Incidental Mutation 'R3607:Cracr2b'
| ID |
269115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracr2b
|
| Ensembl Gene |
ENSMUSG00000048200 |
| Gene Name |
calcium release activated channel regulator 2B |
| Synonyms |
Efcab4a, 6330520A15Rik |
| MMRRC Submission |
040671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R3607 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
141041007-141046526 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 141046059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 370
(P370S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053670]
[ENSMUST00000058746]
[ENSMUST00000106000]
[ENSMUST00000209892]
[ENSMUST00000211071]
[ENSMUST00000209988]
[ENSMUST00000170879]
[ENSMUST00000172215]
[ENSMUST00000177840]
[ENSMUST00000167491]
[ENSMUST00000165194]
|
| AlphaFold |
Q80ZJ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053670
AA Change: P370S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000055899
Gene: ENSMUSG00000048200
AA Change: P370S
| 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: ENSMUST00000167900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209698
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209892
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167572
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210058
|
| 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: 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 |
probably benign
Transcript: ENSMUST00000165194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211564
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211522
|
| Meta Mutation Damage Score |
0.1172 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.3%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930510E17Rik |
C |
A |
9: 53,191,083 (GRCm39) |
|
noncoding transcript |
Het |
| Adnp2 |
A |
T |
18: 80,172,284 (GRCm39) |
N708K |
probably damaging |
Het |
| Arhgef17 |
C |
A |
7: 100,580,379 (GRCm39) |
G190W |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,408,406 (GRCm39) |
M2431K |
probably benign |
Het |
| Aurkc |
A |
G |
7: 7,005,859 (GRCm39) |
Y157C |
probably damaging |
Het |
| Bpifb1 |
T |
A |
2: 154,053,485 (GRCm39) |
N242K |
possibly damaging |
Het |
| Etv1 |
A |
G |
12: 38,881,085 (GRCm39) |
Y66C |
probably damaging |
Het |
| F830016B08Rik |
A |
T |
18: 60,433,780 (GRCm39) |
K288* |
probably null |
Het |
| Fam131a |
C |
T |
16: 20,520,345 (GRCm39) |
P181L |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,172,511 (GRCm39) |
E2734V |
probably damaging |
Het |
| Fgfrl1 |
C |
A |
5: 108,853,289 (GRCm39) |
T213K |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gmfg |
T |
A |
7: 28,140,961 (GRCm39) |
|
probably null |
Het |
| Gtpbp8 |
T |
C |
16: 44,564,119 (GRCm39) |
Y184C |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,141,646 (GRCm39) |
E2G |
probably damaging |
Het |
| Itpr2 |
T |
G |
6: 146,129,099 (GRCm39) |
T2005P |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,760,493 (GRCm39) |
T485M |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,886,552 (GRCm39) |
F112L |
probably damaging |
Het |
| Kprp |
C |
A |
3: 92,731,588 (GRCm39) |
Q487H |
unknown |
Het |
| Lctl |
T |
C |
9: 64,040,475 (GRCm39) |
Y473H |
probably damaging |
Het |
| Lpin2 |
T |
A |
17: 71,536,387 (GRCm39) |
D225E |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,119,775 (GRCm39) |
V177A |
probably damaging |
Het |
| Nkrf |
T |
G |
X: 36,153,730 (GRCm39) |
N184T |
probably benign |
Het |
| Nt5c1b |
A |
G |
12: 10,427,236 (GRCm39) |
N329D |
probably damaging |
Het |
| Ogdhl |
T |
A |
14: 32,057,318 (GRCm39) |
V308E |
probably damaging |
Het |
| Or14a258 |
A |
G |
7: 86,034,903 (GRCm39) |
C322R |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,975,066 (GRCm39) |
F791I |
probably damaging |
Het |
| Prkg2 |
G |
T |
5: 99,095,236 (GRCm39) |
T616K |
probably damaging |
Het |
| Psmd3 |
C |
T |
11: 98,581,780 (GRCm39) |
R302W |
probably damaging |
Het |
| Ptpn1 |
A |
G |
2: 167,817,427 (GRCm39) |
S355G |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,040,917 (GRCm39) |
N398D |
probably benign |
Het |
| Ranbp10 |
A |
G |
8: 106,502,667 (GRCm39) |
S300P |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,019,153 (GRCm39) |
F531I |
probably damaging |
Het |
| Rgl3 |
A |
G |
9: 21,898,987 (GRCm39) |
S151P |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,332,802 (GRCm39) |
C2670* |
probably null |
Het |
| Tex16 |
T |
A |
X: 111,003,667 (GRCm39) |
S159T |
probably damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,881,350 (GRCm39) |
I312T |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,420,427 (GRCm39) |
T141A |
probably benign |
Het |
| Trpm7 |
T |
C |
2: 126,638,348 (GRCm39) |
|
probably benign |
Het |
| Usp11 |
T |
G |
X: 20,580,871 (GRCm39) |
F426L |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,851,420 (GRCm39) |
T1180K |
probably damaging |
Het |
| Wasf1 |
G |
C |
10: 40,812,380 (GRCm39) |
A390P |
unknown |
Het |
| Yif1b |
C |
T |
7: 28,937,835 (GRCm39) |
A7V |
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 |
|
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 |
|
R5401:Cracr2b
|
UTSW |
7 |
141,046,136 (GRCm39) |
makesense |
probably null |
|
|
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'- TTGACTCAGGGAAGGCATCTC -3'
(R):5'- GGCCTTGACTACTCTGAGGTTAG -3'
Sequencing Primer
(F):5'- GAAGGCATCTCCCCCATG -3'
(R):5'- ACTCTGAGGTTAGCTCCTTCAGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation