Incidental Mutation 'R2318:Car15'
| ID |
245571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Car15
|
| Ensembl Gene |
ENSMUSG00000090236 |
| Gene Name |
carbonic anhydrase 15 |
| Synonyms |
Cals2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R2318 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17653140-17656050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17654463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 158
(M158V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012152]
[ENSMUST00000066127]
[ENSMUST00000117082]
[ENSMUST00000117945]
[ENSMUST00000118960]
[ENSMUST00000150068]
|
| AlphaFold |
Q99N23 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012152
|
| SMART Domains |
Protein: ENSMUSP00000012152
Gene: ENSMUSG00000003166
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
29 |
68 |
6.28e-11 |
SMART |
|
CLECT
|
114 |
265 |
1.06e-14 |
SMART |
|
VWC
|
270 |
331 |
1.42e-9 |
SMART |
|
transmembrane domain
|
345 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066127
|
| SMART Domains |
Protein: ENSMUSP00000064603
Gene: ENSMUSG00000003166
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
29 |
68 |
6.28e-11 |
SMART |
|
CLECT
|
111 |
262 |
1.06e-14 |
SMART |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117082
|
| SMART Domains |
Protein: ENSMUSP00000113506
Gene: ENSMUSG00000003166
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
29 |
68 |
5.86e-11 |
SMART |
|
CLECT
|
113 |
264 |
1.06e-14 |
SMART |
|
VWC
|
269 |
330 |
1.42e-9 |
SMART |
|
transmembrane domain
|
344 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117945
|
| SMART Domains |
Protein: ENSMUSP00000112783
Gene: ENSMUSG00000003166
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
29 |
68 |
6.28e-11 |
SMART |
|
CLECT
|
111 |
262 |
1.06e-14 |
SMART |
|
VWC
|
267 |
328 |
1.42e-9 |
SMART |
|
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118960
AA Change: M158V
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000113400
Gene: ENSMUSG00000090236
AA Change: M158V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Carb_anhydrase
|
25 |
293 |
2.31e-106 |
SMART |
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135229
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150068
|
| SMART Domains |
Protein: ENSMUSP00000115071
Gene: ENSMUSG00000092470
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
29 |
68 |
6.28e-11 |
SMART |
|
CLECT
|
114 |
265 |
1.06e-14 |
SMART |
|
VWC
|
270 |
331 |
1.42e-9 |
SMART |
|
transmembrane domain
|
345 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232529
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10 |
G |
A |
8: 14,978,855 (GRCm39) |
A41T |
probably damaging |
Het |
| Cinp |
C |
A |
12: 110,840,443 (GRCm39) |
W113L |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,626,290 (GRCm39) |
|
probably null |
Het |
| Csnk2b |
T |
C |
17: 35,337,037 (GRCm39) |
Y101C |
possibly damaging |
Het |
| Ddb1 |
C |
T |
19: 10,603,992 (GRCm39) |
R900C |
probably damaging |
Het |
| Eif4g2 |
A |
G |
7: 110,673,065 (GRCm39) |
F876L |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| H4c4 |
A |
G |
13: 23,765,739 (GRCm39) |
Y52C |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,647,754 (GRCm39) |
D540G |
probably damaging |
Het |
| Mis18bp1 |
C |
T |
12: 65,187,617 (GRCm39) |
V829M |
possibly damaging |
Het |
| Mtus2 |
C |
T |
5: 148,043,892 (GRCm39) |
R827* |
probably null |
Het |
| Nlrp9a |
G |
A |
7: 26,273,277 (GRCm39) |
V860M |
probably damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,987,422 (GRCm39) |
E691G |
probably benign |
Het |
| Rad1 |
A |
G |
15: 10,490,495 (GRCm39) |
N154S |
probably benign |
Het |
| Sanbr |
A |
G |
11: 23,538,701 (GRCm39) |
Y66H |
probably damaging |
Het |
| Slc10a4-ps |
T |
C |
5: 72,743,638 (GRCm39) |
T27A |
probably benign |
Het |
| Smc2 |
T |
C |
4: 52,446,030 (GRCm39) |
S133P |
probably damaging |
Het |
| Sstr1 |
T |
A |
12: 58,259,562 (GRCm39) |
S62T |
possibly damaging |
Het |
| Thsd7a |
T |
C |
6: 12,405,146 (GRCm39) |
Y766C |
probably damaging |
Het |
| Timm44 |
A |
G |
8: 4,318,307 (GRCm39) |
V129A |
probably benign |
Het |
| Tinag |
T |
C |
9: 76,952,693 (GRCm39) |
Y97C |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ubap2 |
A |
G |
4: 41,251,542 (GRCm39) |
V30A |
probably damaging |
Het |
|
| Other mutations in Car15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00822:Car15
|
APN |
16 |
17,654,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01292:Car15
|
APN |
16 |
17,653,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01361:Car15
|
APN |
16 |
17,655,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03061:Car15
|
APN |
16 |
17,653,249 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0383:Car15
|
UTSW |
16 |
17,654,617 (GRCm39) |
nonsense |
probably null |
|
|
R0544:Car15
|
UTSW |
16 |
17,653,680 (GRCm39) |
splice site |
probably benign |
|
|
R1771:Car15
|
UTSW |
16 |
17,654,730 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1951:Car15
|
UTSW |
16 |
17,655,269 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2910:Car15
|
UTSW |
16 |
17,656,006 (GRCm39) |
unclassified |
probably benign |
|
|
R4370:Car15
|
UTSW |
16 |
17,653,299 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4843:Car15
|
UTSW |
16 |
17,654,472 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5110:Car15
|
UTSW |
16 |
17,653,211 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6251:Car15
|
UTSW |
16 |
17,655,227 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6360:Car15
|
UTSW |
16 |
17,655,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6699:Car15
|
UTSW |
16 |
17,654,438 (GRCm39) |
missense |
probably null |
0.43 |
|
R7127:Car15
|
UTSW |
16 |
17,656,060 (GRCm39) |
unclassified |
probably benign |
|
|
R7567:Car15
|
UTSW |
16 |
17,654,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8289:Car15
|
UTSW |
16 |
17,654,580 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8543:Car15
|
UTSW |
16 |
17,654,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9252:Car15
|
UTSW |
16 |
17,653,246 (GRCm39) |
nonsense |
probably null |
|
|
X0026:Car15
|
UTSW |
16 |
17,653,396 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTGAGCTCTTCTGAGTTC -3'
(R):5'- CTTCGAGTAAATTCCTGTCAGCAG -3'
Sequencing Primer
(F):5'- CAGTGAGCTCTTCTGAGTTCTCTAAG -3'
(R):5'- TCACCAGAGTACCGGCTACTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation