Incidental Mutation 'R4199:Cbarp'
| ID |
318683 |
| 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 |
041029-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4199 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79966268-79976189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 79971326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 173
(H173Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003152]
[ENSMUST00000105369]
[ENSMUST00000105370]
[ENSMUST00000123967]
[ENSMUST00000170219]
[ENSMUST00000169546]
[ENSMUST00000142853]
[ENSMUST00000147778]
[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: H166Q
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101008
Gene: ENSMUSG00000035640
AA Change: H166Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000132317
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170219
AA Change: H166Q
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131487
Gene: ENSMUSG00000035640
AA Change: H166Q
| 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 damaging
Transcript: ENSMUST00000169546
AA Change: H173Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132978
Gene: ENSMUSG00000035640
AA Change: H173Q
| 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 |
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: ENSMUST00000146180
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142853
|
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
C |
G |
18: 36,794,101 (GRCm39) |
|
probably benign |
Het |
| Ccna1 |
G |
A |
3: 54,954,736 (GRCm39) |
A177V |
possibly damaging |
Het |
| Ces1f |
A |
G |
8: 93,983,517 (GRCm39) |
F497L |
probably benign |
Het |
| Cic |
TCCCCC |
TCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably null |
Het |
| Disc1 |
C |
T |
8: 125,875,198 (GRCm39) |
T556I |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,849,414 (GRCm39) |
S63P |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,913,364 (GRCm39) |
A121T |
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,491,325 (GRCm39) |
N351S |
probably damaging |
Het |
| Fbxo34 |
T |
A |
14: 47,768,454 (GRCm39) |
W605R |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,082 (GRCm39) |
S272T |
possibly damaging |
Het |
| Gal3st3 |
T |
A |
19: 5,357,808 (GRCm39) |
Y394* |
probably null |
Het |
| Gga1 |
A |
G |
15: 78,773,275 (GRCm39) |
E301G |
probably damaging |
Het |
| Ifitm5 |
T |
A |
7: 140,529,149 (GRCm39) |
*153Y |
probably null |
Het |
| Ighg2b |
G |
T |
12: 113,270,907 (GRCm39) |
P110Q |
probably damaging |
Het |
| Il17rb |
C |
T |
14: 29,718,601 (GRCm39) |
D494N |
probably benign |
Het |
| Irf2bp2 |
C |
A |
8: 127,318,313 (GRCm39) |
A418S |
probably damaging |
Het |
| Lcn9 |
A |
G |
2: 25,714,773 (GRCm39) |
T171A |
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,891,130 (GRCm39) |
K408E |
possibly damaging |
Het |
| Myh14 |
T |
A |
7: 44,264,927 (GRCm39) |
R1653* |
probably null |
Het |
| Naa16 |
A |
T |
14: 79,593,311 (GRCm39) |
H420Q |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,815,224 (GRCm39) |
V426E |
possibly damaging |
Het |
| Or1i2 |
A |
T |
10: 78,447,901 (GRCm39) |
D191E |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Papln |
C |
T |
12: 83,830,166 (GRCm39) |
T1012I |
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,789,004 (GRCm39) |
T921A |
probably benign |
Het |
| Pknox1 |
C |
A |
17: 31,821,790 (GRCm39) |
Q294K |
probably damaging |
Het |
| Ppp2ca |
A |
G |
11: 51,989,928 (GRCm39) |
N18S |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,386,657 (GRCm39) |
|
probably null |
Het |
| Sfxn5 |
T |
A |
6: 85,192,724 (GRCm39) |
E319V |
probably benign |
Het |
| Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
| Spef2 |
A |
G |
15: 9,667,366 (GRCm39) |
F774S |
probably damaging |
Het |
| Syp |
A |
G |
X: 7,506,166 (GRCm39) |
|
probably null |
Het |
| Zfp276 |
A |
G |
8: 123,994,564 (GRCm39) |
T544A |
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 |
|
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 |
|
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'- CCTTCCAAGACCTGCTGAAG -3'
(R):5'- CATGGGTGTATTTCAAAGACCTGC -3'
Sequencing Primer
(F):5'- GACCTGCTGAAGACCACAGG -3'
(R):5'- TTGCTGCAAAGTTCAAGGCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation