Incidental Mutation 'R1181:Cbarp'
ID |
101586 |
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 |
039253-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1181 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79966268-79976189 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 79971328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 166
(H166N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003152]
[ENSMUST00000105369]
[ENSMUST00000105370]
[ENSMUST00000123967]
[ENSMUST00000169546]
[ENSMUST00000170219]
[ENSMUST00000147778]
[ENSMUST00000142853]
[ENSMUST00000132523]
|
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: H166N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101008 Gene: ENSMUSG00000035640 AA Change: H166N
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: H173N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000132978 Gene: ENSMUSG00000035640 AA Change: H173N
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: H166N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131487 Gene: ENSMUSG00000035640 AA Change: H166N
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: ENSMUST00000150347
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149242
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136260
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138776
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132317
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146180
|
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
|
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 |
|
Meta Mutation Damage Score |
0.3326 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.9%
- 10x: 93.9%
- 20x: 84.2%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn3 |
T |
A |
19: 4,922,638 (GRCm39) |
Q64L |
probably benign |
Het |
Ankrd12 |
T |
C |
17: 66,349,569 (GRCm39) |
N88S |
probably benign |
Het |
Apcdd1 |
A |
T |
18: 63,070,168 (GRCm39) |
Y145F |
probably damaging |
Het |
Bnipl |
C |
A |
3: 95,152,960 (GRCm39) |
|
probably null |
Het |
Bod1 |
T |
C |
11: 31,616,943 (GRCm39) |
|
probably benign |
Het |
Cdr2l |
T |
A |
11: 115,285,005 (GRCm39) |
I447N |
probably damaging |
Het |
Cped1 |
T |
G |
6: 22,215,561 (GRCm39) |
I698M |
probably damaging |
Het |
Ecm1 |
G |
A |
3: 95,642,662 (GRCm39) |
H404Y |
possibly damaging |
Het |
Ehbp1 |
C |
T |
11: 22,012,831 (GRCm39) |
V902I |
probably benign |
Het |
Eps8 |
T |
C |
6: 137,499,852 (GRCm39) |
Q209R |
possibly damaging |
Het |
Fastk |
C |
T |
5: 24,646,729 (GRCm39) |
|
probably null |
Het |
Gm6797 |
T |
A |
X: 8,508,004 (GRCm39) |
|
noncoding transcript |
Het |
Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
Gstm1 |
A |
G |
3: 107,922,127 (GRCm39) |
F170S |
probably damaging |
Het |
Hgf |
G |
C |
5: 16,823,923 (GRCm39) |
G707R |
probably damaging |
Het |
Klhl5 |
T |
C |
5: 65,320,228 (GRCm39) |
M594T |
probably damaging |
Het |
Kyat3 |
A |
C |
3: 142,443,531 (GRCm39) |
|
probably null |
Het |
Mettl14 |
C |
T |
3: 123,167,651 (GRCm39) |
G236S |
probably damaging |
Het |
Nob1 |
G |
A |
8: 108,148,122 (GRCm39) |
P107S |
probably damaging |
Het |
Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
Or2a56 |
T |
A |
6: 42,932,492 (GRCm39) |
L20Q |
probably benign |
Het |
Or52e7 |
T |
A |
7: 104,685,021 (GRCm39) |
N205K |
probably damaging |
Het |
Or52n4b |
C |
A |
7: 108,144,509 (GRCm39) |
T257N |
probably benign |
Het |
Or5b109 |
C |
A |
19: 13,212,195 (GRCm39) |
H194N |
probably benign |
Het |
Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
Or6c65 |
A |
G |
10: 129,604,033 (GRCm39) |
I223V |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,183,366 (GRCm39) |
|
probably benign |
Het |
Pds5a |
A |
T |
5: 65,784,545 (GRCm39) |
|
probably null |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Plekha2 |
A |
C |
8: 25,549,218 (GRCm39) |
S189A |
probably benign |
Het |
Prune2 |
T |
C |
19: 17,100,469 (GRCm39) |
V1991A |
probably benign |
Het |
Sec61g |
A |
C |
11: 16,454,722 (GRCm39) |
|
probably benign |
Het |
Serinc3 |
T |
C |
2: 163,467,446 (GRCm39) |
K445R |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Slfn8 |
T |
C |
11: 82,907,571 (GRCm39) |
E324G |
probably benign |
Het |
Spink13 |
A |
G |
18: 62,741,241 (GRCm39) |
|
probably benign |
Het |
Tas2r121 |
A |
T |
6: 132,677,132 (GRCm39) |
I280N |
probably damaging |
Het |
Tbc1d7 |
T |
C |
13: 43,306,615 (GRCm39) |
I242M |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tnni3k |
A |
T |
3: 154,581,150 (GRCm39) |
H600Q |
probably damaging |
Het |
Trim66 |
C |
T |
7: 109,083,784 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
Tulp3 |
A |
T |
6: 128,302,915 (GRCm39) |
H301Q |
possibly damaging |
Het |
Ubqln5 |
T |
A |
7: 103,777,948 (GRCm39) |
Q292L |
probably damaging |
Het |
Zfp454 |
T |
C |
11: 50,764,413 (GRCm39) |
K229E |
probably damaging |
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 |
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 |
|
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'- AGCCTTCCAAGACCTGCTGAAGAC -3'
(R):5'- TGCTACAAATTTCAGACCCCGACTG -3'
Sequencing Primer
(F):5'- CTGCTGAAGACCACAGGC -3'
(R):5'- atggtgggcagagccag -3'
|
Posted On |
2014-01-15 |