Incidental Mutation 'R6174:Cracr2b'
| ID |
488198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracr2b
|
| Ensembl Gene |
ENSMUSG00000048200 |
| Gene Name |
calcium release activated channel regulator 2B |
| Synonyms |
Efcab4a, 6330520A15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R6174 (G1)
|
| Quality Score |
186.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
141041007-141046526 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 141044749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 193
(L193Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026583]
[ENSMUST00000053670]
[ENSMUST00000058746]
[ENSMUST00000064151]
[ENSMUST00000106000]
[ENSMUST00000170879]
[ENSMUST00000167491]
[ENSMUST00000209892]
[ENSMUST00000172215]
[ENSMUST00000165194]
[ENSMUST00000177840]
[ENSMUST00000164924]
[ENSMUST00000164016]
[ENSMUST00000209988]
[ENSMUST00000211071]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000053670
AA Change: L193Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000055899
Gene: ENSMUSG00000048200
AA Change: L193Q
| 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 damaging
Transcript: ENSMUST00000170879
AA Change: L193Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129946
Gene: ENSMUSG00000048200
AA Change: L193Q
| 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 |
unknown
Transcript: ENSMUST00000167491
AA Change: L193Q
|
| SMART Domains |
Protein: ENSMUSP00000127957
Gene: ENSMUSG00000048200
AA Change: L193Q
| 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: ENSMUST00000163833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171994
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209892
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167572
|
| 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: ENSMUST00000165194
|
| 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: 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: ENSMUST00000209988
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211564
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210058
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
A |
6: 91,919,517 (GRCm39) |
D725E |
probably damaging |
Het |
| Bco1 |
T |
A |
8: 117,840,273 (GRCm39) |
Y264N |
probably damaging |
Het |
| Cd109 |
G |
A |
9: 78,572,828 (GRCm39) |
|
probably null |
Het |
| Cdc45 |
T |
C |
16: 18,613,454 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
A |
G |
2: 91,398,564 (GRCm39) |
E578G |
probably benign |
Het |
| Dmxl2 |
G |
A |
9: 54,301,011 (GRCm39) |
L2367F |
probably damaging |
Het |
| Dop1b |
T |
G |
16: 93,563,110 (GRCm39) |
D871E |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,093,842 (GRCm39) |
Y651H |
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,745,627 (GRCm39) |
S41P |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,839,384 (GRCm39) |
Y399C |
probably damaging |
Het |
| Foxa1 |
A |
G |
12: 57,589,686 (GRCm39) |
L178P |
probably damaging |
Het |
| Gm57859 |
C |
A |
11: 113,579,801 (GRCm39) |
H399N |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 111,223,258 (GRCm39) |
Y433N |
probably benign |
Het |
| Gsta5 |
T |
A |
9: 78,211,737 (GRCm39) |
Y166* |
probably null |
Het |
| Gtf3c2 |
G |
A |
5: 31,315,555 (GRCm39) |
R813C |
probably damaging |
Het |
| H4c9 |
T |
A |
13: 22,225,247 (GRCm39) |
T83S |
probably benign |
Het |
| Hacd3 |
T |
C |
9: 64,912,909 (GRCm39) |
E117G |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,522,535 (GRCm39) |
T3455M |
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,664,053 (GRCm39) |
I61V |
possibly damaging |
Het |
| Jaml |
T |
C |
9: 45,000,071 (GRCm39) |
L81P |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,499,874 (GRCm39) |
F782S |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,339,275 (GRCm39) |
H742R |
probably benign |
Het |
| Macrod2 |
G |
T |
2: 140,242,895 (GRCm39) |
M1I |
probably null |
Het |
| Mcf2l |
G |
A |
8: 13,063,849 (GRCm39) |
W1020* |
probably null |
Het |
| Msgn1 |
A |
G |
12: 11,258,924 (GRCm39) |
L9P |
probably damaging |
Het |
| Ngdn |
C |
A |
14: 55,259,556 (GRCm39) |
S202R |
probably benign |
Het |
| Notch1 |
C |
T |
2: 26,375,454 (GRCm39) |
G50R |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,009 (GRCm39) |
D329E |
probably benign |
Het |
| Or1a1b |
A |
T |
11: 74,097,466 (GRCm39) |
I192N |
probably damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,714 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,646 (GRCm39) |
C107* |
probably null |
Het |
| Osbpl10 |
A |
G |
9: 114,938,555 (GRCm39) |
S211G |
probably benign |
Het |
| Pabpc6 |
G |
A |
17: 9,887,084 (GRCm39) |
A489V |
probably benign |
Het |
| Pcdhb13 |
A |
T |
18: 37,576,474 (GRCm39) |
D284V |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,128,677 (GRCm39) |
S214P |
possibly damaging |
Het |
| Pofut1 |
C |
T |
2: 153,101,536 (GRCm39) |
H192Y |
probably damaging |
Het |
| Pou3f2 |
T |
C |
4: 22,486,960 (GRCm39) |
D391G |
possibly damaging |
Het |
| Prc1 |
G |
A |
7: 79,954,544 (GRCm39) |
S165N |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,414,883 (GRCm39) |
V304A |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,513,065 (GRCm39) |
I881V |
probably benign |
Het |
| Radil |
A |
G |
5: 142,472,870 (GRCm39) |
S847P |
probably benign |
Het |
| Rimklb |
A |
G |
6: 122,433,371 (GRCm39) |
S317P |
probably damaging |
Het |
| Sdhc |
A |
T |
1: 170,966,271 (GRCm39) |
L78* |
probably null |
Het |
| Skint6 |
T |
A |
4: 112,696,510 (GRCm39) |
I1042F |
possibly damaging |
Het |
| Slc1a6 |
T |
A |
10: 78,637,741 (GRCm39) |
D422E |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,900,854 (GRCm39) |
H71Q |
probably damaging |
Het |
| Slfn14 |
A |
T |
11: 83,167,429 (GRCm39) |
D695E |
probably damaging |
Het |
| Spg11 |
A |
T |
2: 121,917,286 (GRCm39) |
|
probably null |
Het |
| Srgap2 |
A |
G |
1: 131,217,354 (GRCm39) |
V986A |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,884,476 (GRCm39) |
C172* |
probably null |
Het |
| Tigd4 |
A |
G |
3: 84,502,574 (GRCm39) |
H497R |
probably benign |
Het |
| Ubn2 |
G |
A |
6: 38,438,471 (GRCm39) |
G60D |
probably damaging |
Het |
| Uckl1 |
C |
T |
2: 181,214,866 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
A |
T |
6: 123,793,236 (GRCm39) |
K854N |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,701,763 (GRCm39) |
Q3193* |
probably null |
Het |
| Wdr26 |
G |
A |
1: 181,019,433 (GRCm39) |
L315F |
probably damaging |
Het |
| Zc3h8 |
C |
A |
2: 128,785,775 (GRCm39) |
E24* |
probably null |
Het |
| Zfp39 |
A |
G |
11: 58,782,213 (GRCm39) |
V183A |
probably benign |
Het |
| Zfp608 |
C |
A |
18: 55,121,616 (GRCm39) |
|
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 |
|
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 |
|
R5401:Cracr2b
|
UTSW |
7 |
141,046,136 (GRCm39) |
makesense |
probably null |
|
|
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'- CTGTCCGCAATGGGGAGATAAAC -3'
(R):5'- TCTGGGGAGGAACCAATTCG -3'
Sequencing Primer
(F):5'- GGGGAGATAAACCCTCACCC -3'
(R):5'- CCAATTCGGGGAAGGCG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation