Incidental Mutation 'R3931:Cbarp'
| ID |
308472 |
| 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 |
040918-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3931 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79966268-79976189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79971348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 159
(L159P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003152]
[ENSMUST00000105369]
[ENSMUST00000105370]
[ENSMUST00000123967]
[ENSMUST00000169546]
[ENSMUST00000170219]
[ENSMUST00000132523]
[ENSMUST00000147778]
[ENSMUST00000142853]
|
| 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 damaging
Transcript: ENSMUST00000105369
AA Change: L159P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101008
Gene: ENSMUSG00000035640
AA Change: L159P
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000128488
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169546
AA Change: L166P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132978
Gene: ENSMUSG00000035640
AA Change: L166P
| 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 damaging
Transcript: ENSMUST00000170219
AA Change: L159P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131487
Gene: ENSMUSG00000035640
AA Change: L159P
| 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: ENSMUST00000149242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146180
|
| 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: 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 benign
Transcript: ENSMUST00000142853
|
| Meta Mutation Damage Score |
0.5363 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
A |
C |
6: 92,811,420 (GRCm39) |
|
probably benign |
Het |
| Ccnd2 |
A |
G |
6: 127,107,422 (GRCm39) |
I249T |
probably damaging |
Het |
| Cerk |
G |
T |
15: 86,039,311 (GRCm39) |
C193* |
probably null |
Het |
| Chrna2 |
A |
G |
14: 66,387,216 (GRCm39) |
E454G |
probably benign |
Het |
| Clnk |
T |
C |
5: 38,925,412 (GRCm39) |
T130A |
probably benign |
Het |
| Dcbld2 |
T |
C |
16: 58,285,701 (GRCm39) |
L620P |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,095,499 (GRCm39) |
V942E |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Dnai1 |
G |
A |
4: 41,604,229 (GRCm39) |
C212Y |
probably damaging |
Het |
| Dpep1 |
A |
G |
8: 123,925,518 (GRCm39) |
D57G |
possibly damaging |
Het |
| Gfm2 |
G |
A |
13: 97,311,532 (GRCm39) |
V701I |
probably benign |
Het |
| Grm1 |
C |
T |
10: 10,595,622 (GRCm39) |
A669T |
probably benign |
Het |
| Hsd3b3 |
C |
T |
3: 98,649,492 (GRCm39) |
G277D |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,522,508 (GRCm39) |
Y367C |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lipo4 |
C |
T |
19: 33,480,619 (GRCm39) |
V250I |
probably benign |
Het |
| Lrrc14 |
T |
C |
15: 76,597,765 (GRCm39) |
V165A |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,819,691 (GRCm39) |
F188L |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,691,866 (GRCm39) |
Y433C |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,003,461 (GRCm39) |
K185E |
probably benign |
Het |
| Or6n2 |
T |
A |
1: 173,897,147 (GRCm39) |
F94L |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,066,601 (GRCm39) |
N72K |
possibly damaging |
Het |
| Ptpn12 |
A |
G |
5: 21,206,321 (GRCm39) |
I324T |
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,311,655 (GRCm39) |
V1811E |
probably damaging |
Het |
| Trpc4 |
A |
G |
3: 54,225,516 (GRCm39) |
D871G |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,051,821 (GRCm39) |
E1161G |
unknown |
Het |
| Zp2 |
T |
C |
7: 119,731,580 (GRCm39) |
|
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 |
|
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 |
|
|
R6112:Cbarp
|
UTSW |
10 |
79,971,205 (GRCm39) |
splice site |
probably null |
|
|
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'- CACAGGCAGCTGTAACCTTG -3'
(R):5'- CATGGGTGTATTTCAAAGACCTGC -3'
Sequencing Primer
(F):5'- AGGCAGCTGTAACCTTGACCTC -3'
(R):5'- TTGCTGCAAAGTTCAAGGCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation