Incidental Mutation 'R6112:Cbarp'
| ID |
484915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cbarp
|
| Ensembl Gene |
ENSMUSG00000035640 |
| Gene Name |
calcium channel, voltage-dependent, beta subunit associated regulatory protein |
| Synonyms |
R29144/1, Dos |
| MMRRC Submission |
044261-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6112 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79966268-79976189 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 79971205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003152]
[ENSMUST00000105369]
[ENSMUST00000105369]
[ENSMUST00000105370]
[ENSMUST00000105371]
[ENSMUST00000123967]
[ENSMUST00000147778]
[ENSMUST00000169546]
[ENSMUST00000169546]
[ENSMUST00000170219]
[ENSMUST00000170219]
[ENSMUST00000142853]
[ENSMUST00000144883]
[ENSMUST00000132523]
[ENSMUST00000152592]
|
| AlphaFold |
Q66L44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003152
|
| SMART Domains |
Protein: ENSMUSP00000003152
Gene: ENSMUSG00000003068
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
49 |
309 |
1.28e-80 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105369
|
| SMART Domains |
Protein: ENSMUSP00000101008
Gene: ENSMUSG00000035640
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
41 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
573 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
651 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105369
|
| SMART Domains |
Protein: ENSMUSP00000101008
Gene: ENSMUSG00000035640
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
41 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
573 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
651 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105370
|
| SMART Domains |
Protein: ENSMUSP00000101009
Gene: ENSMUSG00000003068
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
180 |
2.8e-22 |
PFAM |
|
Pfam:Pkinase
|
1 |
183 |
2.8e-40 |
PFAM |
|
Pfam:Kinase-like
|
8 |
171 |
5.7e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105371
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123967
|
| SMART Domains |
Protein: ENSMUSP00000125962
Gene: ENSMUSG00000035640
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128465
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147778
|
| SMART Domains |
Protein: ENSMUSP00000130389
Gene: ENSMUSG00000035640
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169546
|
| SMART Domains |
Protein: ENSMUSP00000132978
Gene: ENSMUSG00000035640
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
658 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169546
|
| SMART Domains |
Protein: ENSMUSP00000132978
Gene: ENSMUSG00000035640
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
658 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170219
|
| SMART Domains |
Protein: ENSMUSP00000131487
Gene: ENSMUSG00000035640
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
41 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
573 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
651 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170219
|
| SMART Domains |
Protein: ENSMUSP00000131487
Gene: ENSMUSG00000035640
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
41 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
573 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
651 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146180
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128488
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142853
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144883
|
| SMART Domains |
Protein: ENSMUSP00000114195
Gene: ENSMUSG00000003068
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
49 |
309 |
1.28e-80 |
SMART |
|
low complexity region
|
396 |
411 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132523
|
| SMART Domains |
Protein: ENSMUSP00000128980
Gene: ENSMUSG00000035640
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152592
|
| SMART Domains |
Protein: ENSMUSP00000118853
Gene: ENSMUSG00000003068
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:S_TKc
|
1 |
53 |
6e-31 |
BLAST |
|
PDB:2WTK|F
|
1 |
74 |
1e-40 |
PDB |
|
SCOP:d1koba_
|
1 |
89 |
1e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,278,780 (GRCm39) |
Y1030C |
probably damaging |
Het |
| Adh5 |
G |
T |
3: 138,157,029 (GRCm39) |
V197F |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,798,684 (GRCm39) |
F936I |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,885,625 (GRCm39) |
D710V |
probably damaging |
Het |
| Aplp1 |
T |
C |
7: 30,134,902 (GRCm39) |
E622G |
probably damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,740,684 (GRCm39) |
Y219H |
probably damaging |
Het |
| Bag3 |
A |
G |
7: 128,143,556 (GRCm39) |
D184G |
probably damaging |
Het |
| Cacna1g |
C |
T |
11: 94,300,072 (GRCm39) |
A2216T |
probably damaging |
Het |
| Cep250 |
C |
A |
2: 155,836,503 (GRCm39) |
L2211I |
possibly damaging |
Het |
| Cfap65 |
A |
G |
1: 74,942,298 (GRCm39) |
I1752T |
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,431,604 (GRCm39) |
V1560A |
unknown |
Het |
| Dapk3 |
A |
T |
10: 81,019,864 (GRCm39) |
Q6L |
probably benign |
Het |
| Dctn5 |
A |
G |
7: 121,732,460 (GRCm39) |
|
probably benign |
Het |
| Eef1akmt1 |
A |
T |
14: 57,787,330 (GRCm39) |
I182N |
possibly damaging |
Het |
| Eef1g |
T |
C |
19: 8,954,955 (GRCm39) |
F346S |
probably damaging |
Het |
| Erap1 |
G |
T |
13: 74,794,398 (GRCm39) |
W19L |
probably benign |
Het |
| Gm10801 |
A |
G |
2: 98,494,409 (GRCm39) |
H162R |
probably benign |
Het |
| Gpm6a |
G |
A |
8: 55,507,845 (GRCm39) |
A194T |
probably benign |
Het |
| Grip1 |
C |
A |
10: 119,829,137 (GRCm39) |
N32K |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,494,687 (GRCm39) |
I4134T |
probably damaging |
Het |
| Hspa14 |
G |
A |
2: 3,499,105 (GRCm39) |
H230Y |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,414,241 (GRCm39) |
T1435A |
probably benign |
Het |
| Igsf3 |
T |
A |
3: 101,358,322 (GRCm39) |
Y738N |
probably damaging |
Het |
| Lcor |
T |
C |
19: 41,547,520 (GRCm39) |
V368A |
possibly damaging |
Het |
| Lmna |
C |
A |
3: 88,393,928 (GRCm39) |
E217* |
probably null |
Het |
| Lrp1b |
C |
T |
2: 41,231,894 (GRCm39) |
G337E |
probably benign |
Het |
| Maf1 |
A |
G |
15: 76,236,312 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,722,571 (GRCm39) |
I436V |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,596,157 (GRCm39) |
T3123I |
possibly damaging |
Het |
| Muc5b |
T |
A |
7: 141,417,042 (GRCm39) |
H3329Q |
probably benign |
Het |
| Noa1 |
C |
T |
5: 77,457,593 (GRCm39) |
R104Q |
probably benign |
Het |
| Odc1 |
T |
G |
12: 17,599,473 (GRCm39) |
S267A |
probably benign |
Het |
| Or5p60 |
T |
A |
7: 107,724,369 (GRCm39) |
I34F |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,193 (GRCm39) |
Y691H |
probably damaging |
Het |
| Pamr1 |
T |
C |
2: 102,441,953 (GRCm39) |
Y181H |
probably damaging |
Het |
| Pcdhga2 |
T |
A |
18: 37,802,612 (GRCm39) |
I152N |
probably damaging |
Het |
| Pigt |
C |
T |
2: 164,348,365 (GRCm39) |
Q437* |
probably null |
Het |
| Prx |
T |
C |
7: 27,215,973 (GRCm39) |
L158P |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,600,922 (GRCm39) |
T152S |
probably benign |
Het |
| Pum1 |
G |
A |
4: 130,457,591 (GRCm39) |
R201H |
probably damaging |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,290 (GRCm39) |
I404T |
probably benign |
Het |
| Radil |
C |
T |
5: 142,529,399 (GRCm39) |
R99H |
probably damaging |
Het |
| Rc3h2 |
C |
T |
2: 37,268,899 (GRCm39) |
V856I |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,664 (GRCm39) |
V115E |
probably damaging |
Het |
| Snx3 |
C |
A |
10: 42,402,042 (GRCm39) |
S85R |
probably benign |
Het |
| Sppl2c |
A |
T |
11: 104,077,963 (GRCm39) |
E254D |
probably benign |
Het |
| Srms |
C |
A |
2: 180,849,780 (GRCm39) |
E237* |
probably null |
Het |
| Tenm1 |
C |
T |
X: 41,916,072 (GRCm39) |
G404E |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,805 (GRCm39) |
L2514P |
probably damaging |
Het |
| Trib1 |
C |
T |
15: 59,523,487 (GRCm39) |
R174* |
probably null |
Het |
| Usp4 |
A |
G |
9: 108,233,703 (GRCm39) |
Y108C |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,847 (GRCm39) |
I737F |
probably damaging |
Het |
| Zfp600 |
A |
T |
4: 146,131,701 (GRCm39) |
H123L |
probably benign |
Het |
| Zfp646 |
G |
T |
7: 127,478,190 (GRCm39) |
R122S |
possibly damaging |
Het |
| Znfx1 |
A |
G |
2: 166,880,126 (GRCm39) |
Y553H |
probably benign |
Het |
|
| Other mutations in Cbarp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02516:Cbarp
|
APN |
10 |
79,971,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1181:Cbarp
|
UTSW |
10 |
79,971,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1189:Cbarp
|
UTSW |
10 |
79,967,630 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2937:Cbarp
|
UTSW |
10 |
79,967,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2938:Cbarp
|
UTSW |
10 |
79,967,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3931:Cbarp
|
UTSW |
10 |
79,971,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4199:Cbarp
|
UTSW |
10 |
79,971,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4573:Cbarp
|
UTSW |
10 |
79,967,245 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5274:Cbarp
|
UTSW |
10 |
79,967,649 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5761:Cbarp
|
UTSW |
10 |
79,968,067 (GRCm39) |
unclassified |
probably benign |
|
|
R6402:Cbarp
|
UTSW |
10 |
79,970,956 (GRCm39) |
missense |
probably benign |
|
|
R7087:Cbarp
|
UTSW |
10 |
79,972,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7270:Cbarp
|
UTSW |
10 |
79,973,151 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7287:Cbarp
|
UTSW |
10 |
79,973,154 (GRCm39) |
missense |
unknown |
|
|
R7427:Cbarp
|
UTSW |
10 |
79,967,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7428:Cbarp
|
UTSW |
10 |
79,967,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8803:Cbarp
|
UTSW |
10 |
79,972,976 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9419:Cbarp
|
UTSW |
10 |
79,967,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0025:Cbarp
|
UTSW |
10 |
79,967,411 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Cbarp
|
UTSW |
10 |
79,968,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cbarp
|
UTSW |
10 |
79,967,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGGCTGATCTCTGAGAAG -3'
(R):5'- TAGGTACACCCTGACAGAAGG -3'
Sequencing Primer
(F):5'- TGATCTCTGAGAAGTCCACGG -3'
(R):5'- CCTGACAGAAGGGGATTTCCATC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation