Incidental Mutation 'R6851:Cracr2a'
| ID |
534965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracr2a
|
| Ensembl Gene |
ENSMUSG00000061414 |
| Gene Name |
calcium release activated channel regulator 2A |
| Synonyms |
LOC243645, Efcab4b, LOC381812 |
| MMRRC Submission |
044955-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6851 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
127538299-127651197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127585679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 159
(D159V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071563]
[ENSMUST00000212051]
|
| AlphaFold |
Q3UP38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071563
AA Change: D159V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000071494
Gene: ENSMUSG00000061414
AA Change: D159V
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
48 |
76 |
2.82e1 |
SMART |
|
EFh
|
82 |
110 |
2.09e-4 |
SMART |
|
coiled coil region
|
192 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212051
AA Change: D159V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,623,345 (GRCm39) |
C856S |
probably benign |
Het |
| Arrdc2 |
T |
C |
8: 71,291,369 (GRCm39) |
E153G |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,764,739 (GRCm39) |
D2033G |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Defa35 |
T |
C |
8: 21,555,146 (GRCm39) |
I22T |
possibly damaging |
Het |
| Dgke |
T |
C |
11: 88,943,309 (GRCm39) |
T227A |
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,896,521 (GRCm39) |
R4290K |
probably benign |
Het |
| Firrm |
G |
A |
1: 163,792,336 (GRCm39) |
R554C |
probably damaging |
Het |
| Galnt10 |
G |
A |
11: 57,656,458 (GRCm39) |
R214Q |
probably damaging |
Het |
| Gpr180 |
T |
C |
14: 118,391,037 (GRCm39) |
Y189H |
probably damaging |
Het |
| Hadh |
A |
G |
3: 131,065,620 (GRCm39) |
S13P |
possibly damaging |
Het |
| Hcn2 |
T |
A |
10: 79,564,947 (GRCm39) |
|
probably null |
Het |
| Irgm2 |
T |
C |
11: 58,110,641 (GRCm39) |
S123P |
possibly damaging |
Het |
| Kcnv1 |
T |
A |
15: 44,972,594 (GRCm39) |
I430F |
probably damaging |
Het |
| Kif13b |
G |
A |
14: 65,010,514 (GRCm39) |
C1271Y |
probably damaging |
Het |
| Klhdc3 |
A |
T |
17: 46,989,218 (GRCm39) |
I48N |
possibly damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,649,841 (GRCm39) |
W1182R |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,497,630 (GRCm39) |
|
probably null |
Het |
| Or12e1 |
T |
A |
2: 87,022,813 (GRCm39) |
S261T |
probably benign |
Het |
| Or1j11 |
T |
A |
2: 36,311,832 (GRCm39) |
C141S |
probably damaging |
Het |
| Or8b51 |
A |
G |
9: 38,569,481 (GRCm39) |
V69A |
probably benign |
Het |
| Or8h9 |
T |
C |
2: 86,789,611 (GRCm39) |
T64A |
possibly damaging |
Het |
| Or9m1b |
T |
A |
2: 87,836,300 (GRCm39) |
H265L |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,106,479 (GRCm39) |
Y295* |
probably null |
Het |
| Pex5 |
A |
G |
6: 124,380,113 (GRCm39) |
S275P |
possibly damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Sele |
G |
T |
1: 163,881,521 (GRCm39) |
G543C |
probably damaging |
Het |
| Serpina3k |
A |
C |
12: 104,311,625 (GRCm39) |
Y401S |
probably benign |
Het |
| Slc13a4 |
A |
G |
6: 35,278,668 (GRCm39) |
S74P |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,851,725 (GRCm39) |
L114P |
unknown |
Het |
| Syne1 |
G |
T |
10: 5,212,703 (GRCm39) |
C3295* |
probably null |
Het |
| Tepsin |
G |
T |
11: 119,987,787 (GRCm39) |
H44N |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,398,919 (GRCm39) |
V170E |
probably damaging |
Het |
| Trav3-1 |
T |
C |
14: 52,818,428 (GRCm39) |
V34A |
probably damaging |
Het |
| Tsbp1 |
A |
T |
17: 34,679,146 (GRCm39) |
Y303F |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,265,402 (GRCm39) |
V1642A |
probably benign |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,845 (GRCm39) |
I70T |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,802,800 (GRCm39) |
M237V |
possibly damaging |
Het |
| Wdr75 |
A |
G |
1: 45,862,587 (GRCm39) |
E802G |
probably benign |
Het |
| Zan |
G |
A |
5: 137,394,453 (GRCm39) |
T4462I |
unknown |
Het |
|
| Other mutations in Cracr2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02136:Cracr2a
|
APN |
6 |
127,606,893 (GRCm39) |
intron |
probably benign |
|
|
PIT4812001:Cracr2a
|
UTSW |
6 |
127,602,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0111:Cracr2a
|
UTSW |
6 |
127,581,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0180:Cracr2a
|
UTSW |
6 |
127,581,037 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1612:Cracr2a
|
UTSW |
6 |
127,580,892 (GRCm39) |
nonsense |
probably null |
|
|
R1929:Cracr2a
|
UTSW |
6 |
127,584,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2055:Cracr2a
|
UTSW |
6 |
127,585,564 (GRCm39) |
nonsense |
probably null |
|
|
R2270:Cracr2a
|
UTSW |
6 |
127,584,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2272:Cracr2a
|
UTSW |
6 |
127,584,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2915:Cracr2a
|
UTSW |
6 |
127,588,468 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4476:Cracr2a
|
UTSW |
6 |
127,606,782 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4600:Cracr2a
|
UTSW |
6 |
127,580,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4767:Cracr2a
|
UTSW |
6 |
127,588,470 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5256:Cracr2a
|
UTSW |
6 |
127,580,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5657:Cracr2a
|
UTSW |
6 |
127,580,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Cracr2a
|
UTSW |
6 |
127,584,199 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6437:Cracr2a
|
UTSW |
6 |
127,608,794 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6572:Cracr2a
|
UTSW |
6 |
127,585,715 (GRCm39) |
splice site |
probably null |
|
|
R7177:Cracr2a
|
UTSW |
6 |
127,585,669 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7616:Cracr2a
|
UTSW |
6 |
127,585,660 (GRCm39) |
nonsense |
probably null |
|
|
R7809:Cracr2a
|
UTSW |
6 |
127,626,925 (GRCm39) |
missense |
probably benign |
|
|
R8030:Cracr2a
|
UTSW |
6 |
127,588,386 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8084:Cracr2a
|
UTSW |
6 |
127,616,135 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8731:Cracr2a
|
UTSW |
6 |
127,602,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8867:Cracr2a
|
UTSW |
6 |
127,606,736 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Cracr2a
|
UTSW |
6 |
127,646,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cracr2a
|
UTSW |
6 |
127,584,207 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCCCTGAGACAGCGGAAG -3'
(R):5'- TCCAAGCTGCCTCCAATGAG -3'
Sequencing Primer
(F):5'- AAGCCAAGTCCTCCCTGG -3'
(R):5'- CTCCAATGAGGGGCATCC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation