Incidental Mutation 'R0569:Cracr2b'
| ID |
46304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracr2b
|
| Ensembl Gene |
ENSMUSG00000048200 |
| Gene Name |
calcium release activated channel regulator 2B |
| Synonyms |
Efcab4a, 6330520A15Rik |
| MMRRC Submission |
038760-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R0569 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
141041007-141046526 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 141044848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026583]
[ENSMUST00000053670]
[ENSMUST00000058746]
[ENSMUST00000064151]
[ENSMUST00000106000]
[ENSMUST00000170879]
[ENSMUST00000167491]
[ENSMUST00000209892]
[ENSMUST00000165194]
[ENSMUST00000172215]
[ENSMUST00000164016]
[ENSMUST00000177840]
[ENSMUST00000164924]
[ENSMUST00000211071]
[ENSMUST00000209988]
|
| AlphaFold |
Q80ZJ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026583
|
| SMART Domains |
Protein: ENSMUSP00000026583
Gene: ENSMUSG00000025509
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
10 |
69 |
4.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053670
|
| SMART Domains |
Protein: ENSMUSP00000055899
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 |
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 |
probably benign
Transcript: ENSMUST00000064151
|
| SMART Domains |
Protein: ENSMUSP00000065116
Gene: ENSMUSG00000025509
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
10 |
179 |
1.8e-15 |
PFAM |
|
low complexity region
|
409 |
425 |
N/A |
INTRINSIC |
|
| 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 |
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: 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: ENSMUST00000209892
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167572
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209698
|
| 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: ENSMUST00000164016
|
| SMART Domains |
Protein: ENSMUSP00000127149
Gene: ENSMUSG00000025509
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
10 |
179 |
3.3e-15 |
PFAM |
|
low complexity region
|
243 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
481 |
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: ENSMUST00000164924
|
| SMART Domains |
Protein: ENSMUSP00000129632
Gene: ENSMUSG00000025509
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
10 |
69 |
4.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211564
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210058
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
97% (56/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,621,016 (GRCm39) |
I572M |
possibly damaging |
Het |
| 4930447A16Rik |
T |
C |
15: 37,425,863 (GRCm39) |
M1T |
probably null |
Het |
| 4930590J08Rik |
C |
A |
6: 91,919,559 (GRCm39) |
C739* |
probably null |
Het |
| Adcy1 |
T |
A |
11: 7,096,514 (GRCm39) |
V634E |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,644,434 (GRCm39) |
H710Q |
possibly damaging |
Het |
| Ankrd60 |
C |
T |
2: 173,412,859 (GRCm39) |
V90M |
probably damaging |
Het |
| Asgr2 |
A |
T |
11: 69,988,703 (GRCm39) |
Q132L |
probably benign |
Het |
| Cchcr1 |
T |
A |
17: 35,839,865 (GRCm39) |
|
probably null |
Het |
| Ces1h |
T |
C |
8: 94,078,774 (GRCm39) |
K523E |
unknown |
Het |
| Clec3a |
G |
T |
8: 115,152,476 (GRCm39) |
G161C |
probably damaging |
Het |
| Cyp2b10 |
A |
T |
7: 25,597,160 (GRCm39) |
L17F |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,084,748 (GRCm39) |
N655K |
probably benign |
Het |
| Dst |
C |
A |
1: 34,332,508 (GRCm39) |
L4748I |
probably damaging |
Het |
| Eif2b5 |
G |
C |
16: 20,321,303 (GRCm39) |
L285F |
probably benign |
Het |
| Enox1 |
T |
A |
14: 77,875,117 (GRCm39) |
D441E |
probably damaging |
Het |
| Fam110a |
T |
C |
2: 151,812,404 (GRCm39) |
E122G |
probably damaging |
Het |
| Fam161b |
T |
A |
12: 84,395,413 (GRCm39) |
E510V |
probably damaging |
Het |
| Gabrd |
T |
C |
4: 155,469,880 (GRCm39) |
Y443C |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,733,118 (GRCm39) |
S1052A |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,264,419 (GRCm39) |
E279G |
possibly damaging |
Het |
| Hoxa6 |
T |
A |
6: 52,185,163 (GRCm39) |
|
probably null |
Het |
| Ibtk |
T |
A |
9: 85,590,234 (GRCm39) |
|
probably benign |
Het |
| Il6ra |
A |
T |
3: 89,785,149 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
C |
T |
3: 87,998,032 (GRCm39) |
|
probably benign |
Het |
| Kcnk2 |
A |
C |
1: 189,071,998 (GRCm39) |
L110R |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,927,916 (GRCm39) |
V1919D |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,779,251 (GRCm39) |
L2597Q |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,923,358 (GRCm39) |
S1120P |
probably benign |
Het |
| Map3k8 |
T |
C |
18: 4,349,162 (GRCm39) |
D52G |
probably benign |
Het |
| Mcat |
C |
T |
15: 83,433,449 (GRCm39) |
R198H |
probably benign |
Het |
| Mnd1 |
A |
G |
3: 84,012,286 (GRCm39) |
V141A |
probably benign |
Het |
| Morc1 |
T |
C |
16: 48,407,485 (GRCm39) |
L667P |
probably benign |
Het |
| Mrps6 |
A |
G |
16: 91,908,808 (GRCm39) |
K125E |
possibly damaging |
Het |
| Mst1 |
T |
C |
9: 107,959,500 (GRCm39) |
F262S |
probably damaging |
Het |
| Or5j3 |
T |
G |
2: 86,128,941 (GRCm39) |
I260M |
probably damaging |
Het |
| Or7e178 |
T |
A |
9: 20,225,875 (GRCm39) |
I114F |
probably damaging |
Het |
| Pbsn |
C |
G |
X: 76,897,046 (GRCm39) |
G15A |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,038,804 (GRCm39) |
I2023T |
probably benign |
Het |
| Pds5a |
T |
G |
5: 65,813,744 (GRCm39) |
N247T |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,167,373 (GRCm39) |
Y185C |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,744,031 (GRCm39) |
I560N |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,658 (GRCm39) |
I160V |
probably damaging |
Het |
| Rabgap1 |
T |
G |
2: 37,379,729 (GRCm39) |
|
probably benign |
Het |
| Rdh10 |
T |
G |
1: 16,199,517 (GRCm39) |
V241G |
probably damaging |
Het |
| Selenow |
A |
T |
7: 15,654,042 (GRCm39) |
C37S |
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,403,872 (GRCm39) |
|
probably null |
Het |
| Slc12a3 |
T |
C |
8: 95,057,153 (GRCm39) |
|
probably null |
Het |
| Slc22a21 |
T |
G |
11: 53,842,636 (GRCm39) |
M498L |
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,122,486 (GRCm39) |
N317I |
probably damaging |
Het |
| Srek1 |
A |
G |
13: 103,885,370 (GRCm39) |
|
probably benign |
Het |
| Syt11 |
A |
G |
3: 88,655,230 (GRCm39) |
V357A |
probably benign |
Het |
| Tcof1 |
T |
A |
18: 60,962,107 (GRCm39) |
K707N |
possibly damaging |
Het |
| Tfip11 |
C |
T |
5: 112,475,960 (GRCm39) |
R42C |
probably damaging |
Het |
| Trim39 |
T |
C |
17: 36,574,623 (GRCm39) |
K260E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,553,663 (GRCm39) |
T22658A |
possibly damaging |
Het |
| Unc45b |
C |
T |
11: 82,827,638 (GRCm39) |
|
probably benign |
Het |
| Vmn1r236 |
A |
G |
17: 21,507,172 (GRCm39) |
I97V |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,881,001 (GRCm39) |
V657A |
probably damaging |
Het |
| Zkscan2 |
A |
G |
7: 123,097,898 (GRCm39) |
V166A |
probably benign |
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 |
|
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 |
|
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'- CGCAATGGGGAGATAAACCCTCAC -3'
(R):5'- TGCGAGGACACCAACTTGAACTC -3'
Sequencing Primer
(F):5'- AATGGGCTGTGAGAACCCTC -3'
(R):5'- AGCAGAGTTCCCTGGACTTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation