Incidental Mutation 'R5401:Cracr2b'
| ID |
429991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracr2b
|
| Ensembl Gene |
ENSMUSG00000048200 |
| Gene Name |
calcium release activated channel regulator 2B |
| Synonyms |
Efcab4a, 6330520A15Rik |
| MMRRC Submission |
042972-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5401 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
141041007-141046526 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 141046136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 395
(*395W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053670]
[ENSMUST00000058746]
[ENSMUST00000106000]
[ENSMUST00000211071]
[ENSMUST00000209988]
[ENSMUST00000209892]
[ENSMUST00000170879]
[ENSMUST00000165194]
[ENSMUST00000172215]
[ENSMUST00000177840]
[ENSMUST00000167491]
|
| AlphaFold |
Q80ZJ8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053670
AA Change: *395W
|
| SMART Domains |
Protein: ENSMUSP00000055899
Gene: ENSMUSG00000048200
AA Change: *395W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
EFh
|
32 |
60 |
2.71e0 |
SMART |
|
EFh
|
66 |
94 |
2.63e0 |
SMART |
|
low complexity region
|
108 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
167 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
346 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058746
|
| SMART Domains |
Protein: ENSMUSP00000061636
Gene: ENSMUSG00000025510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
15 |
248 |
1.7e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097947
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106000
|
| SMART Domains |
Protein: ENSMUSP00000101622
Gene: ENSMUSG00000025510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
15 |
248 |
1.5e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116247
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210058
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209698
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211071
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167572
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209892
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167900
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170879
|
| SMART Domains |
Protein: ENSMUSP00000129946
Gene: ENSMUSG00000048200
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
EFh
|
32 |
60 |
2.71e0 |
SMART |
|
EFh
|
66 |
94 |
2.63e0 |
SMART |
|
low complexity region
|
108 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
167 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
287 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165194
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172215
|
| SMART Domains |
Protein: ENSMUSP00000132793
Gene: ENSMUSG00000048200
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
EFh
|
32 |
60 |
2.71e0 |
SMART |
|
EFh
|
66 |
94 |
2.63e0 |
SMART |
|
low complexity region
|
108 |
126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177840
|
| SMART Domains |
Protein: ENSMUSP00000136331
Gene: ENSMUSG00000025510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
15 |
248 |
1.5e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167491
|
| SMART Domains |
Protein: ENSMUSP00000127957
Gene: ENSMUSG00000048200
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
EFh
|
32 |
60 |
2.71e0 |
SMART |
|
EFh
|
66 |
94 |
2.63e0 |
SMART |
|
low complexity region
|
108 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
167 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211564
|
| Meta Mutation Damage Score |
0.8396 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J11Rik |
A |
G |
9: 39,962,338 (GRCm39) |
|
noncoding transcript |
Het |
| 1700025H01Rik |
G |
T |
16: 30,018,801 (GRCm39) |
|
noncoding transcript |
Het |
| 9330159F19Rik |
T |
C |
10: 29,101,136 (GRCm39) |
V503A |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,347,914 (GRCm39) |
N995S |
possibly damaging |
Het |
| Anapc4 |
A |
G |
5: 53,020,991 (GRCm39) |
K630R |
probably benign |
Het |
| Ankrd13a |
A |
C |
5: 114,930,234 (GRCm39) |
Q206H |
probably damaging |
Het |
| Ano10 |
A |
T |
9: 122,090,356 (GRCm39) |
L319Q |
probably damaging |
Het |
| Camkk2 |
T |
A |
5: 122,884,398 (GRCm39) |
D341V |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,413,279 (GRCm39) |
I606V |
probably benign |
Het |
| Cdv3 |
G |
T |
9: 103,242,316 (GRCm39) |
|
probably benign |
Het |
| Cep97 |
A |
G |
16: 55,745,315 (GRCm39) |
V155A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,228,476 (GRCm39) |
E2204G |
probably damaging |
Het |
| Defa27 |
A |
G |
8: 21,805,710 (GRCm39) |
E50G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,670,812 (GRCm39) |
I480T |
probably benign |
Het |
| Ep400 |
C |
A |
5: 110,831,037 (GRCm39) |
D2210Y |
unknown |
Het |
| Fam170a |
T |
A |
18: 50,413,618 (GRCm39) |
S28T |
probably benign |
Het |
| Fancc |
C |
A |
13: 63,550,767 (GRCm39) |
K18N |
probably damaging |
Het |
| Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
| Fndc8 |
T |
G |
11: 82,788,676 (GRCm39) |
S169A |
possibly damaging |
Het |
| Get3 |
A |
T |
8: 85,745,173 (GRCm39) |
I298N |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,409,338 (GRCm39) |
Y4688H |
probably damaging |
Het |
| Ighv11-2 |
A |
T |
12: 114,011,959 (GRCm39) |
D85E |
possibly damaging |
Het |
| Kat14 |
T |
C |
2: 144,231,180 (GRCm39) |
F196L |
possibly damaging |
Het |
| Kctd19 |
C |
T |
8: 106,109,617 (GRCm39) |
V942I |
probably benign |
Het |
| Llgl1 |
A |
G |
11: 60,597,297 (GRCm39) |
S249G |
probably benign |
Het |
| Map1a |
T |
C |
2: 121,130,153 (GRCm39) |
V323A |
probably damaging |
Het |
| Or4m1 |
C |
A |
14: 50,557,566 (GRCm39) |
C242F |
probably damaging |
Het |
| Phf21a |
C |
A |
2: 92,182,097 (GRCm39) |
T342K |
possibly damaging |
Het |
| Piezo2 |
T |
A |
18: 63,217,811 (GRCm39) |
D1122V |
possibly damaging |
Het |
| Pklr |
A |
G |
3: 89,049,173 (GRCm39) |
Y173C |
probably damaging |
Het |
| Plcz1 |
G |
T |
6: 139,938,778 (GRCm39) |
|
probably null |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Prom1 |
A |
T |
5: 44,158,147 (GRCm39) |
Y845N |
probably damaging |
Het |
| Qng1 |
C |
A |
13: 58,530,405 (GRCm39) |
A202S |
probably benign |
Het |
| Ret |
A |
T |
6: 118,158,936 (GRCm39) |
S159T |
probably benign |
Het |
| Rfx1 |
C |
A |
8: 84,793,005 (GRCm39) |
|
probably null |
Het |
| Scp2 |
A |
T |
4: 108,001,976 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Smad5 |
T |
C |
13: 56,875,282 (GRCm39) |
F157L |
probably benign |
Het |
| Smarcc2 |
C |
A |
10: 128,301,373 (GRCm39) |
D210E |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,478,643 (GRCm39) |
L534P |
possibly damaging |
Het |
| Srrm1 |
A |
G |
4: 135,051,380 (GRCm39) |
|
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Sugct |
T |
A |
13: 17,032,455 (GRCm39) |
Q432H |
probably damaging |
Het |
| Tex9 |
A |
T |
9: 72,394,060 (GRCm39) |
|
probably null |
Het |
| Tsc1 |
C |
A |
2: 28,576,920 (GRCm39) |
S1073* |
probably null |
Het |
| Vmn1r72 |
T |
C |
7: 11,403,843 (GRCm39) |
S202G |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,385,871 (GRCm39) |
V703A |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,785,765 (GRCm39) |
Y747N |
probably damaging |
Het |
| Zcchc4 |
A |
G |
5: 52,964,419 (GRCm39) |
I292V |
probably benign |
Het |
| Zfp998 |
T |
C |
13: 66,579,722 (GRCm39) |
R254G |
probably benign |
Het |
| Zswim2 |
C |
T |
2: 83,755,589 (GRCm39) |
G104E |
possibly damaging |
Het |
|
| Other mutations in Cracr2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00519:Cracr2b
|
APN |
7 |
141,045,670 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02092:Cracr2b
|
APN |
7 |
141,044,869 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0009:Cracr2b
|
UTSW |
7 |
141,043,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Cracr2b
|
UTSW |
7 |
141,043,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0324:Cracr2b
|
UTSW |
7 |
141,043,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Cracr2b
|
UTSW |
7 |
141,044,176 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0569:Cracr2b
|
UTSW |
7 |
141,044,848 (GRCm39) |
unclassified |
probably benign |
|
|
R1386:Cracr2b
|
UTSW |
7 |
141,043,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Cracr2b
|
UTSW |
7 |
141,045,193 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3605:Cracr2b
|
UTSW |
7 |
141,046,059 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3607:Cracr2b
|
UTSW |
7 |
141,046,059 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4674:Cracr2b
|
UTSW |
7 |
141,043,451 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4675:Cracr2b
|
UTSW |
7 |
141,043,451 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6174:Cracr2b
|
UTSW |
7 |
141,044,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7127:Cracr2b
|
UTSW |
7 |
141,045,695 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7132:Cracr2b
|
UTSW |
7 |
141,043,651 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7303:Cracr2b
|
UTSW |
7 |
141,043,115 (GRCm39) |
unclassified |
probably benign |
|
|
R7448:Cracr2b
|
UTSW |
7 |
141,044,118 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7965:Cracr2b
|
UTSW |
7 |
141,044,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCTGAATCTGAGGCTTCG -3'
(R):5'- GGCCTTTATTGGTCCTTCAGAC -3'
Sequencing Primer
(F):5'- CTGAATCTGAGGCTTCGAGATGAG -3'
(R):5'- CTTAGCAAGTATCCGCCA -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation