Incidental Mutation 'R4942:Clca3a2'
| ID |
383168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca3a2
|
| Ensembl Gene |
ENSMUSG00000028262 |
| Gene Name |
chloride channel accessory 3A2 |
| Synonyms |
Clca2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4942 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144796559-144819494 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144806502 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 491
(E491V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029929]
[ENSMUST00000199029]
|
| AlphaFold |
Q9EQR4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029929
AA Change: E491V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: E491V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
VWA
|
306 |
478 |
1.5e-21 |
SMART |
|
FN3
|
758 |
857 |
5.49e0 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000197013
AA Change: E51V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198543
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199029
|
| SMART Domains |
Protein: ENSMUSP00000143543
Gene: ENSMUSG00000028262
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLCA
|
1 |
188 |
6.5e-77 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
A |
G |
11: 25,770,472 (GRCm38) |
|
probably null |
Het |
| Adamts7 |
T |
C |
9: 90,163,311 (GRCm38) |
S23P |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,341,214 (GRCm38) |
C824* |
probably null |
Het |
| Adgre1 |
A |
G |
17: 57,406,903 (GRCm38) |
Y196C |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,401,802 (GRCm38) |
D542G |
possibly damaging |
Het |
| B3gat1 |
A |
G |
9: 26,755,598 (GRCm38) |
D42G |
probably benign |
Het |
| Birc6 |
G |
A |
17: 74,623,050 (GRCm38) |
A2412T |
probably damaging |
Het |
| Bnip5 |
T |
C |
17: 28,903,258 (GRCm38) |
R420G |
probably benign |
Het |
| Bsn |
A |
G |
9: 108,106,479 (GRCm38) |
Y3459H |
unknown |
Het |
| Cacnb1 |
T |
C |
11: 98,002,983 (GRCm38) |
Y571C |
probably damaging |
Het |
| Cdk2ap2 |
G |
A |
19: 4,097,508 (GRCm38) |
|
probably null |
Het |
| Cep57 |
A |
G |
9: 13,813,427 (GRCm38) |
S265P |
probably damaging |
Het |
| Clca1 |
A |
G |
3: 145,004,763 (GRCm38) |
I893T |
probably benign |
Het |
| Cldn10 |
G |
A |
14: 118,788,313 (GRCm38) |
G53S |
possibly damaging |
Het |
| Cobl |
A |
T |
11: 12,254,185 (GRCm38) |
I832N |
probably damaging |
Het |
| Col9a2 |
T |
C |
4: 121,053,119 (GRCm38) |
V487A |
possibly damaging |
Het |
| Cse1l |
C |
T |
2: 166,929,794 (GRCm38) |
T325I |
probably damaging |
Het |
| Dlx6 |
A |
G |
6: 6,863,468 (GRCm38) |
Q30R |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,729,142 (GRCm38) |
V1902A |
probably benign |
Het |
| Dusp8 |
A |
G |
7: 142,082,228 (GRCm38) |
F542L |
possibly damaging |
Het |
| Emid1 |
T |
G |
11: 5,129,430 (GRCm38) |
M323L |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,175,965 (GRCm38) |
D886G |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,573,307 (GRCm38) |
E461G |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,383,616 (GRCm38) |
C572F |
possibly damaging |
Het |
| Gigyf1 |
G |
T |
5: 137,525,690 (GRCm38) |
V1041L |
possibly damaging |
Het |
| Grin3b |
A |
G |
10: 79,975,722 (GRCm38) |
H714R |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,413,510 (GRCm38) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,692,077 (GRCm38) |
C51Y |
probably damaging |
Het |
| Llgl1 |
C |
T |
11: 60,709,568 (GRCm38) |
P581L |
probably benign |
Het |
| Lypd6b |
C |
A |
2: 49,946,120 (GRCm38) |
H104Q |
probably benign |
Het |
| Man1a |
A |
T |
10: 53,933,490 (GRCm38) |
|
probably null |
Het |
| Megf6 |
A |
T |
4: 154,253,820 (GRCm38) |
D449V |
probably damaging |
Het |
| Mtor |
T |
C |
4: 148,472,142 (GRCm38) |
V1003A |
probably benign |
Het |
| Ncan |
C |
A |
8: 70,100,294 (GRCm38) |
W1096L |
probably damaging |
Het |
| Ndor1 |
C |
T |
2: 25,248,121 (GRCm38) |
|
probably null |
Het |
| Ndufaf1 |
T |
C |
2: 119,660,066 (GRCm38) |
E171G |
possibly damaging |
Het |
| Nell1 |
T |
C |
7: 50,120,649 (GRCm38) |
V152A |
possibly damaging |
Het |
| Nherf4 |
C |
A |
9: 44,248,618 (GRCm38) |
G402* |
probably null |
Het |
| Nt5dc1 |
A |
T |
10: 34,322,677 (GRCm38) |
V255E |
probably damaging |
Het |
| Or2a20 |
T |
A |
6: 43,216,994 (GRCm38) |
F27Y |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,317,548 (GRCm38) |
M1L |
probably null |
Het |
| Or52h7 |
A |
G |
7: 104,565,005 (GRCm38) |
I261M |
probably benign |
Het |
| Or52z14 |
G |
A |
7: 103,604,194 (GRCm38) |
R180H |
probably benign |
Het |
| Otud7a |
T |
C |
7: 63,757,423 (GRCm38) |
I50T |
probably damaging |
Het |
| P2ry13 |
G |
A |
3: 59,209,562 (GRCm38) |
T265I |
probably benign |
Het |
| Pde4d |
A |
G |
13: 108,860,199 (GRCm38) |
S12G |
probably benign |
Het |
| Pigk |
C |
A |
3: 152,744,517 (GRCm38) |
N219K |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,753,589 (GRCm38) |
|
probably null |
Het |
| Psd2 |
A |
T |
18: 35,978,664 (GRCm38) |
D114V |
probably damaging |
Het |
| Ptch1 |
A |
T |
13: 63,525,070 (GRCm38) |
I770N |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,688,429 (GRCm38) |
M481K |
probably benign |
Het |
| Rnf216 |
A |
C |
5: 143,093,059 (GRCm38) |
M45R |
probably damaging |
Het |
| Rpsa |
T |
A |
9: 120,131,063 (GRCm38) |
W231R |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 29,069,573 (GRCm38) |
T2797N |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,836,257 (GRCm38) |
M1468K |
probably damaging |
Het |
| Slc6a7 |
A |
G |
18: 61,004,517 (GRCm38) |
Y244H |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,081,324 (GRCm38) |
D462V |
probably damaging |
Het |
| Spata31d1b |
A |
T |
13: 59,717,103 (GRCm38) |
E688D |
possibly damaging |
Het |
| Srpra |
G |
A |
9: 35,215,470 (GRCm38) |
R508H |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,787,982 (GRCm38) |
I181N |
unknown |
Het |
| Tnrc6a |
T |
C |
7: 123,192,613 (GRCm38) |
F1785L |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,752,725 (GRCm38) |
D2174E |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,793,256 (GRCm38) |
V15326I |
probably damaging |
Het |
| Ubap2 |
T |
A |
4: 41,245,461 (GRCm38) |
|
probably benign |
Het |
| Vmn2r113 |
C |
T |
17: 22,958,347 (GRCm38) |
P702S |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 85,007,772 (GRCm38) |
W142R |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,870,374 (GRCm38) |
Y459H |
probably damaging |
Het |
| Wsb2 |
C |
T |
5: 117,377,485 (GRCm38) |
T385M |
probably damaging |
Het |
|
| Other mutations in Clca3a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Clca3a2
|
APN |
3 |
144,813,627 (GRCm38) |
nonsense |
probably null |
|
|
IGL01663:Clca3a2
|
APN |
3 |
144,817,155 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01779:Clca3a2
|
APN |
3 |
144,819,378 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL02066:Clca3a2
|
APN |
3 |
144,813,455 (GRCm38) |
missense |
probably benign |
|
|
IGL02301:Clca3a2
|
APN |
3 |
144,806,372 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02619:Clca3a2
|
APN |
3 |
144,806,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02852:Clca3a2
|
APN |
3 |
144,806,343 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02901:Clca3a2
|
APN |
3 |
144,816,768 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03162:Clca3a2
|
APN |
3 |
144,806,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0032:Clca3a2
|
UTSW |
3 |
144,816,733 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0244:Clca3a2
|
UTSW |
3 |
144,813,898 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1249:Clca3a2
|
UTSW |
3 |
144,803,004 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R1370:Clca3a2
|
UTSW |
3 |
144,813,863 (GRCm38) |
splice site |
probably benign |
|
|
R1586:Clca3a2
|
UTSW |
3 |
144,810,716 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1776:Clca3a2
|
UTSW |
3 |
144,813,920 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1797:Clca3a2
|
UTSW |
3 |
144,797,637 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1869:Clca3a2
|
UTSW |
3 |
144,806,403 (GRCm38) |
missense |
probably benign |
0.44 |
|
R1871:Clca3a2
|
UTSW |
3 |
144,797,637 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1919:Clca3a2
|
UTSW |
3 |
144,810,696 (GRCm38) |
missense |
probably benign |
|
|
R1923:Clca3a2
|
UTSW |
3 |
144,805,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2200:Clca3a2
|
UTSW |
3 |
144,813,924 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2324:Clca3a2
|
UTSW |
3 |
144,806,280 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2937:Clca3a2
|
UTSW |
3 |
144,813,918 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3429:Clca3a2
|
UTSW |
3 |
144,806,327 (GRCm38) |
missense |
probably benign |
0.07 |
|
R3434:Clca3a2
|
UTSW |
3 |
144,808,761 (GRCm38) |
unclassified |
probably benign |
|
|
R3551:Clca3a2
|
UTSW |
3 |
144,803,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3952:Clca3a2
|
UTSW |
3 |
144,803,061 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4120:Clca3a2
|
UTSW |
3 |
144,810,852 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4383:Clca3a2
|
UTSW |
3 |
144,806,320 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4518:Clca3a2
|
UTSW |
3 |
144,808,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4598:Clca3a2
|
UTSW |
3 |
144,805,683 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4801:Clca3a2
|
UTSW |
3 |
144,807,351 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4802:Clca3a2
|
UTSW |
3 |
144,807,351 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4816:Clca3a2
|
UTSW |
3 |
144,810,852 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4934:Clca3a2
|
UTSW |
3 |
144,817,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5123:Clca3a2
|
UTSW |
3 |
144,806,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5156:Clca3a2
|
UTSW |
3 |
144,805,838 (GRCm38) |
missense |
probably benign |
0.26 |
|
R5275:Clca3a2
|
UTSW |
3 |
144,813,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5372:Clca3a2
|
UTSW |
3 |
144,797,525 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5656:Clca3a2
|
UTSW |
3 |
144,797,632 (GRCm38) |
missense |
probably benign |
0.26 |
|
R6059:Clca3a2
|
UTSW |
3 |
144,810,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6155:Clca3a2
|
UTSW |
3 |
144,819,357 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6254:Clca3a2
|
UTSW |
3 |
144,802,134 (GRCm38) |
missense |
probably benign |
|
|
R6336:Clca3a2
|
UTSW |
3 |
144,806,478 (GRCm38) |
missense |
probably benign |
|
|
R6470:Clca3a2
|
UTSW |
3 |
144,804,263 (GRCm38) |
splice site |
probably null |
|
|
R6593:Clca3a2
|
UTSW |
3 |
144,808,577 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6631:Clca3a2
|
UTSW |
3 |
144,813,644 (GRCm38) |
missense |
probably benign |
|
|
R6826:Clca3a2
|
UTSW |
3 |
144,818,054 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R6836:Clca3a2
|
UTSW |
3 |
144,806,383 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6896:Clca3a2
|
UTSW |
3 |
144,808,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7211:Clca3a2
|
UTSW |
3 |
144,814,014 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7324:Clca3a2
|
UTSW |
3 |
144,808,611 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7411:Clca3a2
|
UTSW |
3 |
144,802,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7486:Clca3a2
|
UTSW |
3 |
144,797,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7491:Clca3a2
|
UTSW |
3 |
144,813,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7521:Clca3a2
|
UTSW |
3 |
144,801,913 (GRCm38) |
makesense |
probably null |
|
|
R7889:Clca3a2
|
UTSW |
3 |
144,810,813 (GRCm38) |
nonsense |
probably null |
|
|
R7946:Clca3a2
|
UTSW |
3 |
144,807,314 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7991:Clca3a2
|
UTSW |
3 |
144,813,995 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8022:Clca3a2
|
UTSW |
3 |
144,805,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8344:Clca3a2
|
UTSW |
3 |
144,805,942 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8367:Clca3a2
|
UTSW |
3 |
144,817,747 (GRCm38) |
splice site |
probably null |
|
|
R8371:Clca3a2
|
UTSW |
3 |
144,807,353 (GRCm38) |
nonsense |
probably null |
|
|
R8814:Clca3a2
|
UTSW |
3 |
144,797,764 (GRCm38) |
missense |
probably benign |
0.18 |
|
R9031:Clca3a2
|
UTSW |
3 |
144,805,714 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9069:Clca3a2
|
UTSW |
3 |
144,813,686 (GRCm38) |
splice site |
probably benign |
|
|
R9201:Clca3a2
|
UTSW |
3 |
144,813,923 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9261:Clca3a2
|
UTSW |
3 |
144,819,397 (GRCm38) |
missense |
probably benign |
|
|
R9469:Clca3a2
|
UTSW |
3 |
144,802,177 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9515:Clca3a2
|
UTSW |
3 |
144,803,047 (GRCm38) |
nonsense |
probably null |
|
|
R9569:Clca3a2
|
UTSW |
3 |
144,807,314 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9664:Clca3a2
|
UTSW |
3 |
144,797,814 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGCAGACCGGATGTTTAG -3'
(R):5'- TCAGTACATGCACAGGAGGG -3'
Sequencing Primer
(F):5'- GCAGACCGGATGTTTAGTTCATCATC -3'
(R):5'- TACATGCACAGGAGGGGAGAG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation