Incidental Mutation 'R4934:Cacna1e'
| ID |
380761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1e
|
| Ensembl Gene |
ENSMUSG00000004110 |
| Gene Name |
calcium channel, voltage-dependent, R type, alpha 1E subunit |
| Synonyms |
Cav2.3, Cchra1, alpha1E |
| MMRRC Submission |
042534-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R4934 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
154266477-154760247 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 154357380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 603
(Y603*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004214]
[ENSMUST00000187541]
[ENSMUST00000211821]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004214
AA Change: Y357*
|
| SMART Domains |
Protein: ENSMUSP00000004214
Gene: ENSMUSG00000004110
AA Change: Y357*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
1 |
55 |
6.7e-10 |
PFAM |
|
Pfam:Ion_trans
|
168 |
407 |
3.3e-56 |
PFAM |
|
Pfam:PKD_channel
|
257 |
401 |
3.3e-7 |
PFAM |
|
low complexity region
|
409 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
620 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
640 |
N/A |
INTRINSIC |
|
coiled coil region
|
793 |
823 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
847 |
1128 |
2.3e-63 |
PFAM |
|
Pfam:Ion_trans
|
1172 |
1429 |
2.6e-65 |
PFAM |
|
Pfam:PKD_channel
|
1256 |
1424 |
2.8e-10 |
PFAM |
|
Pfam:GPHH
|
1431 |
1500 |
1.3e-37 |
PFAM |
|
Ca_chan_IQ
|
1555 |
1589 |
5.93e-13 |
SMART |
|
low complexity region
|
1701 |
1717 |
N/A |
INTRINSIC |
|
low complexity region
|
1729 |
1742 |
N/A |
INTRINSIC |
|
low complexity region
|
1764 |
1780 |
N/A |
INTRINSIC |
|
low complexity region
|
1789 |
1804 |
N/A |
INTRINSIC |
|
low complexity region
|
1808 |
1822 |
N/A |
INTRINSIC |
|
low complexity region
|
1832 |
1846 |
N/A |
INTRINSIC |
|
low complexity region
|
1867 |
1878 |
N/A |
INTRINSIC |
|
low complexity region
|
1936 |
1946 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000187541
AA Change: Y665*
|
| SMART Domains |
Protein: ENSMUSP00000140937
Gene: ENSMUSG00000004110
AA Change: Y665*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
128 |
351 |
8.5e-54 |
PFAM |
|
PDB:4DEX|B
|
354 |
462 |
6e-36 |
PDB |
|
Pfam:Ion_trans
|
511 |
703 |
2.2e-46 |
PFAM |
|
Pfam:PKD_channel
|
565 |
710 |
1.4e-6 |
PFAM |
|
low complexity region
|
717 |
722 |
N/A |
INTRINSIC |
|
low complexity region
|
763 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
822 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
934 |
948 |
N/A |
INTRINSIC |
|
coiled coil region
|
1101 |
1131 |
N/A |
INTRINSIC |
|
low complexity region
|
1162 |
1175 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1191 |
1425 |
4.3e-55 |
PFAM |
|
Pfam:Ion_trans
|
1515 |
1725 |
5.3e-60 |
PFAM |
|
Pfam:PKD_channel
|
1565 |
1732 |
4.7e-10 |
PFAM |
|
Ca_chan_IQ
|
1863 |
1897 |
5.93e-13 |
SMART |
|
low complexity region
|
2009 |
2025 |
N/A |
INTRINSIC |
|
low complexity region
|
2037 |
2050 |
N/A |
INTRINSIC |
|
low complexity region
|
2072 |
2088 |
N/A |
INTRINSIC |
|
low complexity region
|
2097 |
2112 |
N/A |
INTRINSIC |
|
low complexity region
|
2116 |
2130 |
N/A |
INTRINSIC |
|
low complexity region
|
2140 |
2154 |
N/A |
INTRINSIC |
|
low complexity region
|
2175 |
2186 |
N/A |
INTRINSIC |
|
low complexity region
|
2244 |
2254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188965
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211821
AA Change: Y603*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.4%
|
| Validation Efficiency |
99% (134/135) |
| MGI Phenotype |
FUNCTION: This gene encodes an integral membrane protein that belongs to the calcium channel alpha-1 subunits family. Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes. Voltage-dependent calcium channels are multi-subunit complexes, comprised of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The isoform alpha-1E gives rise to R-type calcium currents and belongs to the high-voltage activated group. Calcium channels containing the alpha-1E subunit may be involved in the modulation of neuronal firing patterns, an important component of information processing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted, knock-out(3) Targeted, other(3) Gene trapped(1) |
| Other mutations in this stock |
Total: 125 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931428L18Rik |
A |
T |
1: 31,261,580 (GRCm39) |
|
probably benign |
Het |
| Acy1 |
T |
A |
9: 106,312,321 (GRCm39) |
I14F |
probably null |
Het |
| Ago1 |
T |
C |
4: 126,342,652 (GRCm39) |
D193G |
possibly damaging |
Het |
| Arhgap45 |
A |
T |
10: 79,856,791 (GRCm39) |
H201L |
probably damaging |
Het |
| Armc9 |
G |
A |
1: 86,140,801 (GRCm39) |
D63N |
probably damaging |
Het |
| Asb17 |
A |
T |
3: 153,556,336 (GRCm39) |
I148F |
possibly damaging |
Het |
| Atf7ip2 |
A |
G |
16: 10,059,447 (GRCm39) |
E329G |
possibly damaging |
Het |
| Atp2a1 |
T |
A |
7: 126,052,600 (GRCm39) |
D373V |
probably benign |
Het |
| Cbln4 |
G |
A |
2: 171,880,901 (GRCm39) |
T131I |
probably damaging |
Het |
| Ccdc126 |
A |
G |
6: 49,311,181 (GRCm39) |
E63G |
probably damaging |
Het |
| Ccl4 |
T |
A |
11: 83,553,504 (GRCm39) |
S6T |
unknown |
Het |
| Ccnb1 |
A |
T |
13: 100,918,209 (GRCm39) |
I146K |
possibly damaging |
Het |
| Ccr8 |
T |
A |
9: 119,923,815 (GRCm39) |
M310K |
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,875,672 (GRCm39) |
|
probably null |
Het |
| Cd46 |
G |
C |
1: 194,765,107 (GRCm39) |
|
probably benign |
Het |
| Cebpb |
A |
G |
2: 167,531,005 (GRCm39) |
M22V |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,453,016 (GRCm39) |
I352T |
possibly damaging |
Het |
| Cep295 |
T |
G |
9: 15,244,456 (GRCm39) |
E1333D |
probably damaging |
Het |
| Ces4a |
A |
G |
8: 105,864,613 (GRCm39) |
H30R |
probably benign |
Het |
| Chrm3 |
A |
G |
13: 9,927,450 (GRCm39) |
Y529H |
probably damaging |
Het |
| Chrnb4 |
T |
C |
9: 54,942,101 (GRCm39) |
Y391C |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,523,692 (GRCm39) |
Y98H |
probably damaging |
Het |
| Clvs1 |
C |
T |
4: 9,424,216 (GRCm39) |
H221Y |
possibly damaging |
Het |
| Col3a1 |
G |
A |
1: 45,379,112 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
T |
G |
16: 30,079,344 (GRCm39) |
N119T |
probably damaging |
Het |
| Cspg4b |
C |
A |
13: 113,504,882 (GRCm39) |
Q2004K |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,494,721 (GRCm39) |
Q109H |
probably benign |
Het |
| Cyp26b1 |
A |
G |
6: 84,553,954 (GRCm39) |
V221A |
possibly damaging |
Het |
| Cyp2e1 |
T |
G |
7: 140,350,030 (GRCm39) |
N238K |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,247,669 (GRCm39) |
A1693V |
probably damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,956,683 (GRCm39) |
Q281R |
probably benign |
Het |
| Enpp2 |
C |
T |
15: 54,745,543 (GRCm39) |
G318S |
probably damaging |
Het |
| Entrep1 |
T |
C |
19: 23,950,789 (GRCm39) |
*597W |
probably null |
Het |
| F13a1 |
G |
T |
13: 37,061,736 (GRCm39) |
P676T |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,521,262 (GRCm39) |
H267R |
possibly damaging |
Het |
| Fam78a |
G |
A |
2: 31,959,427 (GRCm39) |
R228C |
probably damaging |
Het |
| Fbxw25 |
T |
C |
9: 109,480,705 (GRCm39) |
N325S |
possibly damaging |
Het |
| Foxred1 |
T |
C |
9: 35,121,210 (GRCm39) |
|
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,496,272 (GRCm39) |
V345E |
probably damaging |
Het |
| Fzd8 |
GAAAAACTCA |
GA |
18: 9,214,492 (GRCm39) |
|
probably null |
Het |
| Hand1 |
T |
C |
11: 57,722,078 (GRCm39) |
R179G |
possibly damaging |
Het |
| Hk1 |
G |
T |
10: 62,194,165 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
C |
1: 150,598,286 (GRCm39) |
L1672R |
probably damaging |
Het |
| Hps5 |
G |
A |
7: 46,418,775 (GRCm39) |
Q297* |
probably null |
Het |
| Iars1 |
T |
A |
13: 49,871,460 (GRCm39) |
F699I |
probably benign |
Het |
| Ift140 |
G |
A |
17: 25,267,462 (GRCm39) |
G620E |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Inpp4a |
T |
G |
1: 37,426,922 (GRCm39) |
Y628D |
possibly damaging |
Het |
| Itk |
C |
T |
11: 46,280,152 (GRCm39) |
R29H |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,972,644 (GRCm39) |
F413S |
probably damaging |
Het |
| Klhl3 |
A |
T |
13: 58,250,231 (GRCm39) |
Y4* |
probably null |
Het |
| Lonrf1 |
C |
A |
8: 36,701,103 (GRCm39) |
C369F |
probably damaging |
Het |
| Magohb |
A |
T |
6: 131,261,558 (GRCm39) |
|
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,490,787 (GRCm39) |
R215C |
probably damaging |
Het |
| Map3k8 |
A |
T |
18: 4,339,548 (GRCm39) |
S274R |
possibly damaging |
Het |
| Masp1 |
T |
G |
16: 23,283,826 (GRCm39) |
M470L |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,576,472 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
T |
A |
11: 75,562,676 (GRCm39) |
V981E |
probably damaging |
Het |
| Nedd9 |
A |
T |
13: 41,492,411 (GRCm39) |
I27K |
probably damaging |
Het |
| Nkd2 |
C |
A |
13: 73,970,841 (GRCm39) |
G247V |
probably damaging |
Het |
| Nucb2 |
A |
C |
7: 116,139,199 (GRCm39) |
Q398P |
possibly damaging |
Het |
| Numa1 |
T |
A |
7: 101,660,064 (GRCm39) |
D376E |
probably benign |
Het |
| Or2w1 |
G |
A |
13: 21,317,241 (GRCm39) |
V99I |
probably benign |
Het |
| Or4c101 |
C |
T |
2: 88,389,930 (GRCm39) |
T39I |
probably benign |
Het |
| Or4n5 |
T |
C |
14: 50,133,206 (GRCm39) |
T18A |
probably benign |
Het |
| Or4p23 |
A |
T |
2: 88,576,398 (GRCm39) |
L278* |
probably null |
Het |
| Or4q3 |
C |
T |
14: 50,583,345 (GRCm39) |
V185M |
probably damaging |
Het |
| Or5b119 |
G |
A |
19: 13,456,956 (GRCm39) |
T202I |
possibly damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,896 (GRCm39) |
N170Y |
possibly damaging |
Het |
| Or8d23 |
A |
T |
9: 38,842,129 (GRCm39) |
I221F |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pamr1 |
C |
T |
2: 102,472,549 (GRCm39) |
T616I |
probably benign |
Het |
| Pcnx1 |
G |
A |
12: 82,038,599 (GRCm39) |
V1955I |
possibly damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,676 (GRCm39) |
Y398H |
probably damaging |
Het |
| Plekha3 |
T |
A |
2: 76,510,571 (GRCm39) |
D35E |
possibly damaging |
Het |
| Pnpla2 |
T |
G |
7: 141,038,085 (GRCm39) |
N184K |
probably damaging |
Het |
| Polr3a |
C |
T |
14: 24,502,692 (GRCm39) |
E1216K |
probably benign |
Het |
| Ppp1r21 |
A |
T |
17: 88,852,803 (GRCm39) |
S61C |
probably damaging |
Het |
| Ppp1r21 |
G |
C |
17: 88,852,804 (GRCm39) |
S61T |
probably damaging |
Het |
| Prdm13 |
G |
T |
4: 21,678,223 (GRCm39) |
|
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,487,879 (GRCm39) |
N201S |
probably benign |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,290 (GRCm39) |
L338S |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,575,102 (GRCm39) |
N546S |
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,809,359 (GRCm39) |
D472G |
possibly damaging |
Het |
| Rexo4 |
A |
G |
2: 26,850,346 (GRCm39) |
I277T |
probably damaging |
Het |
| Rimbp2 |
C |
T |
5: 128,865,579 (GRCm39) |
V590I |
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,824,736 (GRCm39) |
V864A |
probably benign |
Het |
| Rnpc3 |
G |
A |
3: 113,418,628 (GRCm39) |
H107Y |
possibly damaging |
Het |
| Ryr1 |
A |
T |
7: 28,767,520 (GRCm39) |
D2927E |
probably damaging |
Het |
| Samd9l |
G |
A |
6: 3,375,621 (GRCm39) |
Q547* |
probably null |
Het |
| Scaper |
T |
C |
9: 55,716,459 (GRCm39) |
E724G |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,409 (GRCm39) |
V1016I |
probably damaging |
Het |
| Selenoo |
T |
A |
15: 88,982,970 (GRCm39) |
M499K |
probably damaging |
Het |
| Sema4a |
T |
A |
3: 88,345,568 (GRCm39) |
D505V |
probably damaging |
Het |
| Sema5a |
T |
C |
15: 32,679,310 (GRCm39) |
M863T |
probably damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,929,940 (GRCm39) |
C414R |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,224,942 (GRCm39) |
D361G |
probably damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,261,858 (GRCm39) |
Y20H |
probably benign |
Het |
| Slx4ip |
A |
T |
2: 136,910,267 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,280,341 (GRCm39) |
E538V |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,442,486 (GRCm39) |
L1994I |
probably damaging |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Stap2 |
A |
G |
17: 56,304,901 (GRCm39) |
S294P |
possibly damaging |
Het |
| Stat1 |
C |
A |
1: 52,193,082 (GRCm39) |
Y651* |
probably null |
Het |
| Syne2 |
A |
G |
12: 75,946,046 (GRCm39) |
T373A |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,330,318 (GRCm39) |
S201G |
probably damaging |
Het |
| Tdpoz3 |
G |
A |
3: 93,734,287 (GRCm39) |
E321K |
probably benign |
Het |
| Thumpd1 |
T |
C |
7: 119,316,002 (GRCm39) |
T316A |
probably benign |
Het |
| Tlr3 |
A |
T |
8: 45,850,072 (GRCm39) |
C866S |
probably benign |
Het |
| Tmprss11g |
T |
A |
5: 86,644,401 (GRCm39) |
I148F |
probably benign |
Het |
| Topbp1 |
T |
A |
9: 103,205,568 (GRCm39) |
|
probably benign |
Het |
| Tpm1 |
T |
C |
9: 66,935,331 (GRCm39) |
|
probably null |
Het |
| Traf3ip2 |
T |
A |
10: 39,502,096 (GRCm39) |
S81R |
probably damaging |
Het |
| Trim29 |
T |
A |
9: 43,222,265 (GRCm39) |
N31K |
probably benign |
Het |
| Ubn2 |
C |
T |
6: 38,467,433 (GRCm39) |
P563S |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,283,743 (GRCm39) |
Y2418H |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,766 (GRCm39) |
D267V |
probably damaging |
Het |
| Wapl |
T |
A |
14: 34,414,052 (GRCm39) |
C305S |
probably benign |
Het |
| Yme1l1 |
C |
A |
2: 23,058,333 (GRCm39) |
S155* |
probably null |
Het |
| Ythdf3 |
T |
A |
3: 16,258,220 (GRCm39) |
H126Q |
probably damaging |
Het |
| Zbtb32 |
A |
T |
7: 30,290,678 (GRCm39) |
C206S |
possibly damaging |
Het |
| Zbtb47 |
T |
C |
9: 121,593,045 (GRCm39) |
V455A |
probably damaging |
Het |
| Zfp518a |
A |
T |
19: 40,902,707 (GRCm39) |
I879F |
probably benign |
Het |
| Zfp938 |
A |
T |
10: 82,062,012 (GRCm39) |
Y203N |
possibly damaging |
Het |
|
| Other mutations in Cacna1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00551:Cacna1e
|
APN |
1 |
154,279,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01086:Cacna1e
|
APN |
1 |
154,347,347 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01302:Cacna1e
|
APN |
1 |
154,319,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01386:Cacna1e
|
APN |
1 |
154,348,123 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01573:Cacna1e
|
APN |
1 |
154,347,113 (GRCm39) |
missense |
probably benign |
|
|
IGL01676:Cacna1e
|
APN |
1 |
154,288,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01676:Cacna1e
|
APN |
1 |
154,274,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01762:Cacna1e
|
APN |
1 |
154,347,119 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01801:Cacna1e
|
APN |
1 |
154,347,086 (GRCm39) |
missense |
probably null |
0.00 |
|
IGL01895:Cacna1e
|
APN |
1 |
154,319,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02391:Cacna1e
|
APN |
1 |
154,296,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:Cacna1e
|
APN |
1 |
154,279,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02659:Cacna1e
|
APN |
1 |
154,302,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02686:Cacna1e
|
APN |
1 |
154,369,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02838:Cacna1e
|
APN |
1 |
154,321,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02958:Cacna1e
|
APN |
1 |
154,341,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02981:Cacna1e
|
APN |
1 |
154,347,171 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03120:Cacna1e
|
APN |
1 |
154,319,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03232:Cacna1e
|
APN |
1 |
154,369,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03310:Cacna1e
|
APN |
1 |
154,317,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Cacna1e
|
APN |
1 |
154,342,690 (GRCm39) |
critical splice donor site |
probably null |
|
|
bezoar
|
UTSW |
1 |
154,312,300 (GRCm39) |
splice site |
probably null |
|
|
hairball
|
UTSW |
1 |
154,355,051 (GRCm39) |
missense |
probably damaging |
0.97 |
|
N/A - 535:Cacna1e
|
UTSW |
1 |
154,341,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0122:Cacna1e
|
UTSW |
1 |
154,319,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0143:Cacna1e
|
UTSW |
1 |
154,324,693 (GRCm39) |
splice site |
probably null |
|
|
R0314:Cacna1e
|
UTSW |
1 |
154,317,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0366:Cacna1e
|
UTSW |
1 |
154,291,884 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0626:Cacna1e
|
UTSW |
1 |
154,364,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0739:Cacna1e
|
UTSW |
1 |
154,318,024 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1272:Cacna1e
|
UTSW |
1 |
154,320,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1300:Cacna1e
|
UTSW |
1 |
154,274,419 (GRCm39) |
missense |
probably benign |
|
|
R1340:Cacna1e
|
UTSW |
1 |
154,348,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1440:Cacna1e
|
UTSW |
1 |
154,437,552 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1449:Cacna1e
|
UTSW |
1 |
154,361,408 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1538:Cacna1e
|
UTSW |
1 |
154,437,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1542:Cacna1e
|
UTSW |
1 |
154,353,525 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1560:Cacna1e
|
UTSW |
1 |
154,296,850 (GRCm39) |
nonsense |
probably null |
|
|
R1748:Cacna1e
|
UTSW |
1 |
154,362,315 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1749:Cacna1e
|
UTSW |
1 |
154,319,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Cacna1e
|
UTSW |
1 |
154,312,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1968:Cacna1e
|
UTSW |
1 |
154,576,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Cacna1e
|
UTSW |
1 |
154,353,563 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1994:Cacna1e
|
UTSW |
1 |
154,353,563 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2191:Cacna1e
|
UTSW |
1 |
154,319,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Cacna1e
|
UTSW |
1 |
154,279,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2417:Cacna1e
|
UTSW |
1 |
154,347,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3608:Cacna1e
|
UTSW |
1 |
154,291,831 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3757:Cacna1e
|
UTSW |
1 |
154,509,442 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3890:Cacna1e
|
UTSW |
1 |
154,359,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4015:Cacna1e
|
UTSW |
1 |
154,358,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Cacna1e
|
UTSW |
1 |
154,287,929 (GRCm39) |
splice site |
probably null |
|
|
R4275:Cacna1e
|
UTSW |
1 |
154,369,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4282:Cacna1e
|
UTSW |
1 |
154,302,296 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4297:Cacna1e
|
UTSW |
1 |
154,274,477 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4356:Cacna1e
|
UTSW |
1 |
154,319,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Cacna1e
|
UTSW |
1 |
154,437,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4511:Cacna1e
|
UTSW |
1 |
154,437,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Cacna1e
|
UTSW |
1 |
154,277,773 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4590:Cacna1e
|
UTSW |
1 |
154,312,265 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4601:Cacna1e
|
UTSW |
1 |
154,347,359 (GRCm39) |
missense |
probably benign |
|
|
R4622:Cacna1e
|
UTSW |
1 |
154,347,311 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4626:Cacna1e
|
UTSW |
1 |
154,358,294 (GRCm39) |
splice site |
probably null |
|
|
R4694:Cacna1e
|
UTSW |
1 |
154,313,012 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4727:Cacna1e
|
UTSW |
1 |
154,312,214 (GRCm39) |
nonsense |
probably null |
|
|
R4839:Cacna1e
|
UTSW |
1 |
154,296,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4851:Cacna1e
|
UTSW |
1 |
154,312,300 (GRCm39) |
splice site |
probably null |
|
|
R4894:Cacna1e
|
UTSW |
1 |
154,364,551 (GRCm39) |
nonsense |
probably null |
|
|
R4979:Cacna1e
|
UTSW |
1 |
154,289,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5077:Cacna1e
|
UTSW |
1 |
154,437,475 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5128:Cacna1e
|
UTSW |
1 |
154,277,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5214:Cacna1e
|
UTSW |
1 |
154,577,110 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5274:Cacna1e
|
UTSW |
1 |
154,576,250 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5388:Cacna1e
|
UTSW |
1 |
154,353,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Cacna1e
|
UTSW |
1 |
154,341,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5469:Cacna1e
|
UTSW |
1 |
154,319,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Cacna1e
|
UTSW |
1 |
154,601,455 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5607:Cacna1e
|
UTSW |
1 |
154,347,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5615:Cacna1e
|
UTSW |
1 |
154,287,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5616:Cacna1e
|
UTSW |
1 |
154,317,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5627:Cacna1e
|
UTSW |
1 |
154,511,604 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5707:Cacna1e
|
UTSW |
1 |
154,509,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5756:Cacna1e
|
UTSW |
1 |
154,347,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5893:Cacna1e
|
UTSW |
1 |
154,313,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6117:Cacna1e
|
UTSW |
1 |
154,437,537 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6134:Cacna1e
|
UTSW |
1 |
154,577,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Cacna1e
|
UTSW |
1 |
154,362,316 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6279:Cacna1e
|
UTSW |
1 |
154,301,678 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6295:Cacna1e
|
UTSW |
1 |
154,317,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6300:Cacna1e
|
UTSW |
1 |
154,301,678 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6320:Cacna1e
|
UTSW |
1 |
154,317,270 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6375:Cacna1e
|
UTSW |
1 |
154,355,051 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6830:Cacna1e
|
UTSW |
1 |
154,289,720 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6842:Cacna1e
|
UTSW |
1 |
154,358,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:Cacna1e
|
UTSW |
1 |
154,601,439 (GRCm39) |
missense |
probably null |
0.85 |
|
R7081:Cacna1e
|
UTSW |
1 |
154,576,129 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7085:Cacna1e
|
UTSW |
1 |
154,349,492 (GRCm39) |
splice site |
probably null |
|
|
R7108:Cacna1e
|
UTSW |
1 |
154,344,741 (GRCm39) |
frame shift |
probably null |
|
|
R7142:Cacna1e
|
UTSW |
1 |
154,288,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Cacna1e
|
UTSW |
1 |
154,576,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7332:Cacna1e
|
UTSW |
1 |
154,601,547 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7410:Cacna1e
|
UTSW |
1 |
154,347,980 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7502:Cacna1e
|
UTSW |
1 |
154,344,734 (GRCm39) |
missense |
probably null |
0.35 |
|
R7556:Cacna1e
|
UTSW |
1 |
154,348,419 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7563:Cacna1e
|
UTSW |
1 |
154,347,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7573:Cacna1e
|
UTSW |
1 |
154,601,911 (GRCm39) |
intron |
probably benign |
|
|
R7689:Cacna1e
|
UTSW |
1 |
154,274,549 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7699:Cacna1e
|
UTSW |
1 |
154,319,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7744:Cacna1e
|
UTSW |
1 |
154,341,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Cacna1e
|
UTSW |
1 |
154,288,863 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7787:Cacna1e
|
UTSW |
1 |
154,358,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7818:Cacna1e
|
UTSW |
1 |
154,274,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7838:Cacna1e
|
UTSW |
1 |
154,347,149 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7849:Cacna1e
|
UTSW |
1 |
154,509,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8011:Cacna1e
|
UTSW |
1 |
154,341,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8094:Cacna1e
|
UTSW |
1 |
154,437,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8162:Cacna1e
|
UTSW |
1 |
154,577,313 (GRCm39) |
splice site |
probably null |
|
|
R8202:Cacna1e
|
UTSW |
1 |
154,274,195 (GRCm39) |
missense |
probably benign |
|
|
R8280:Cacna1e
|
UTSW |
1 |
154,344,839 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8354:Cacna1e
|
UTSW |
1 |
154,274,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8385:Cacna1e
|
UTSW |
1 |
154,319,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8532:Cacna1e
|
UTSW |
1 |
154,341,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Cacna1e
|
UTSW |
1 |
154,349,632 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8926:Cacna1e
|
UTSW |
1 |
154,577,080 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8947:Cacna1e
|
UTSW |
1 |
154,277,896 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9094:Cacna1e
|
UTSW |
1 |
154,355,064 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9126:Cacna1e
|
UTSW |
1 |
154,343,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9175:Cacna1e
|
UTSW |
1 |
154,274,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9286:Cacna1e
|
UTSW |
1 |
154,288,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9377:Cacna1e
|
UTSW |
1 |
154,361,458 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9452:Cacna1e
|
UTSW |
1 |
154,289,720 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9463:Cacna1e
|
UTSW |
1 |
154,357,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9513:Cacna1e
|
UTSW |
1 |
154,318,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9534:Cacna1e
|
UTSW |
1 |
154,320,693 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9562:Cacna1e
|
UTSW |
1 |
154,283,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF008:Cacna1e
|
UTSW |
1 |
154,317,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Cacna1e
|
UTSW |
1 |
154,288,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cacna1e
|
UTSW |
1 |
154,511,596 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Cacna1e
|
UTSW |
1 |
154,318,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTCTCACCTTGCTTATACAAG -3'
(R):5'- GGGAATAGCTTTCTCCTTCACCTTAG -3'
Sequencing Primer
(F):5'- TTATACAAGCCCTATTACTGCCAC -3'
(R):5'- TCCTTCACCTTAGCAGGAAATC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation