Incidental Mutation 'R5657:Cracr2a'
ID |
442378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cracr2a
|
Ensembl Gene |
ENSMUSG00000061414 |
Gene Name |
calcium release activated channel regulator 2A |
Synonyms |
LOC243645, Efcab4b, LOC381812 |
MMRRC Submission |
043171-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5657 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
127538299-127651197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 127580970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 49
(A49T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148569
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071563]
[ENSMUST00000212051]
|
AlphaFold |
Q3UP38 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071563
AA Change: A49T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000071494 Gene: ENSMUSG00000061414 AA Change: A49T
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 |
noncoding transcript
Transcript: ENSMUST00000201303
|
SMART Domains |
Protein: ENSMUSP00000143930 Gene: ENSMUSG00000061414
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: A49T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl5 |
A |
G |
5: 31,051,390 (GRCm39) |
Y533C |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,991,979 (GRCm39) |
V4421A |
probably damaging |
Het |
Bach1 |
A |
G |
16: 87,516,173 (GRCm39) |
K238R |
probably benign |
Het |
Bloc1s6 |
T |
A |
2: 122,580,577 (GRCm39) |
V12D |
probably benign |
Het |
Clca3b |
C |
A |
3: 144,533,144 (GRCm39) |
L629F |
probably benign |
Het |
Clhc1 |
A |
G |
11: 29,511,431 (GRCm39) |
I292V |
probably benign |
Het |
Col27a1 |
T |
C |
4: 63,143,547 (GRCm39) |
S412P |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,949,397 (GRCm39) |
I746T |
probably damaging |
Het |
Cyb561d1 |
A |
G |
3: 108,108,008 (GRCm39) |
I28T |
possibly damaging |
Het |
Dnah11 |
T |
A |
12: 117,847,352 (GRCm39) |
M4264L |
probably damaging |
Het |
Dnajc13 |
A |
G |
9: 104,105,736 (GRCm39) |
L412S |
probably damaging |
Het |
Dpf3 |
T |
C |
12: 83,371,785 (GRCm39) |
N150S |
probably damaging |
Het |
Epha2 |
T |
C |
4: 141,050,805 (GRCm39) |
C854R |
probably damaging |
Het |
Fat2 |
G |
T |
11: 55,201,507 (GRCm39) |
Y522* |
probably null |
Het |
Foxm1 |
A |
T |
6: 128,350,351 (GRCm39) |
S551C |
possibly damaging |
Het |
Galnt12 |
T |
C |
4: 47,104,150 (GRCm39) |
V136A |
possibly damaging |
Het |
Gm6647 |
T |
G |
5: 13,818,835 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
A |
6: 135,710,085 (GRCm39) |
I1154F |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,534,313 (GRCm39) |
V2987A |
probably benign |
Het |
Jade2 |
A |
G |
11: 51,707,814 (GRCm39) |
S800P |
probably damaging |
Het |
Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
Or1e33 |
T |
C |
11: 73,738,366 (GRCm39) |
N195S |
probably damaging |
Het |
Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
Plod1 |
T |
C |
4: 148,003,238 (GRCm39) |
E529G |
possibly damaging |
Het |
Plppr2 |
T |
C |
9: 21,858,911 (GRCm39) |
C343R |
probably damaging |
Het |
Prpf38a |
T |
C |
4: 108,425,621 (GRCm39) |
D219G |
probably damaging |
Het |
Ptpra |
G |
A |
2: 130,346,204 (GRCm39) |
E122K |
probably benign |
Het |
Rabl2 |
T |
C |
15: 89,472,416 (GRCm39) |
M38V |
probably benign |
Het |
Reep1 |
A |
G |
6: 71,738,358 (GRCm39) |
M39V |
possibly damaging |
Het |
Rsf1 |
GC |
GCGGCGGCGTC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
Slc26a10 |
T |
C |
10: 127,010,833 (GRCm39) |
|
probably benign |
Het |
Sun2 |
C |
A |
15: 79,612,150 (GRCm39) |
E510* |
probably null |
Het |
Tanc1 |
A |
G |
2: 59,665,051 (GRCm39) |
|
probably null |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Tor1aip1 |
G |
T |
1: 155,883,234 (GRCm39) |
H205N |
probably damaging |
Het |
Trpc6 |
C |
T |
9: 8,609,808 (GRCm39) |
T92I |
probably benign |
Het |
Vmn2r100 |
T |
A |
17: 19,725,178 (GRCm39) |
F36I |
probably benign |
Het |
Zfp787 |
T |
C |
7: 6,136,053 (GRCm39) |
Y66C |
probably damaging |
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 |
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 |
|
R6851:Cracr2a
|
UTSW |
6 |
127,585,679 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGTCAGGACATGCCAGTGG -3'
(R):5'- CAGTTCATGCTGACAACCCC -3'
Sequencing Primer
(F):5'- CCTGTCCAGGTTCTGAAAATAAC -3'
(R):5'- TTCATGCTGACAACCCCTCCAG -3'
|
Posted On |
2016-11-09 |