Incidental Mutation 'IGL02136:Cracr2a'
| ID |
281346 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cracr2a
|
| Ensembl Gene |
ENSMUSG00000061414 |
| Gene Name |
calcium release activated channel regulator 2A |
| Synonyms |
LOC243645, Efcab4b, LOC381812 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02136
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
127538299-127651197 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 127606893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071563]
[ENSMUST00000212051]
|
| AlphaFold |
Q3UP38 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071563
|
| SMART Domains |
Protein: ENSMUSP00000071494
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 |
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 benign
Transcript: ENSMUST00000212051
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,286,301 (GRCm39) |
T2511K |
probably damaging |
Het |
| Acta2 |
T |
A |
19: 34,229,230 (GRCm39) |
D53V |
probably damaging |
Het |
| Banf1 |
G |
A |
19: 5,415,098 (GRCm39) |
A71V |
probably benign |
Het |
| Cacng5 |
A |
T |
11: 107,772,557 (GRCm39) |
I97N |
probably benign |
Het |
| Clec14a |
T |
A |
12: 58,315,415 (GRCm39) |
E69V |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,085,149 (GRCm39) |
R845G |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,747,945 (GRCm39) |
N949S |
possibly damaging |
Het |
| Eprs1 |
T |
G |
1: 185,117,180 (GRCm39) |
W408G |
probably damaging |
Het |
| Fgf14 |
G |
A |
14: 124,217,784 (GRCm39) |
P240S |
possibly damaging |
Het |
| Fpgt |
G |
T |
3: 154,798,989 (GRCm39) |
A2E |
probably benign |
Het |
| Galntl5 |
T |
A |
5: 25,425,060 (GRCm39) |
S392R |
probably benign |
Het |
| Gatd1 |
A |
G |
7: 140,988,873 (GRCm39) |
*221Q |
probably null |
Het |
| Gcsam |
T |
A |
16: 45,430,896 (GRCm39) |
M1K |
probably null |
Het |
| Ksr2 |
A |
G |
5: 117,754,959 (GRCm39) |
N351S |
possibly damaging |
Het |
| Map1a |
T |
C |
2: 121,130,693 (GRCm39) |
V503A |
probably damaging |
Het |
| Myl12a |
T |
A |
17: 71,303,851 (GRCm39) |
K9* |
probably null |
Het |
| Ncapg2 |
A |
T |
12: 116,424,203 (GRCm39) |
M1129L |
probably benign |
Het |
| Or11g2 |
T |
C |
14: 50,855,708 (GRCm39) |
S10P |
possibly damaging |
Het |
| Or8k41 |
T |
C |
2: 86,313,809 (GRCm39) |
I92M |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,531,336 (GRCm39) |
K1691E |
possibly damaging |
Het |
| Pdk4 |
A |
T |
6: 5,486,715 (GRCm39) |
M353K |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,345,839 (GRCm39) |
W2730R |
probably damaging |
Het |
| Pkn2 |
T |
A |
3: 142,559,351 (GRCm39) |
K58I |
probably damaging |
Het |
| Plk5 |
T |
C |
10: 80,199,001 (GRCm39) |
|
probably null |
Het |
| Prkcq |
T |
C |
2: 11,265,479 (GRCm39) |
F399L |
probably benign |
Het |
| Ptprz1 |
G |
A |
6: 22,972,821 (GRCm39) |
V244M |
probably damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,868,659 (GRCm39) |
F361L |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,064,252 (GRCm39) |
L1168I |
possibly damaging |
Het |
| S100a9 |
T |
C |
3: 90,600,075 (GRCm39) |
H107R |
probably benign |
Het |
| Serpinb3a |
T |
A |
1: 106,974,015 (GRCm39) |
M299L |
probably benign |
Het |
| Slfn8 |
G |
A |
11: 82,894,291 (GRCm39) |
Q783* |
probably null |
Het |
| Smc3 |
T |
C |
19: 53,624,147 (GRCm39) |
I721T |
probably benign |
Het |
| Top2b |
C |
A |
14: 16,407,103 (GRCm38) |
|
probably benign |
Het |
| Uvssa |
T |
A |
5: 33,549,192 (GRCm39) |
W351R |
probably damaging |
Het |
| Vmn2r107 |
G |
T |
17: 20,595,168 (GRCm39) |
V574L |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,046,041 (GRCm39) |
R931* |
probably null |
Het |
|
| Other mutations in Cracr2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation