Incidental Mutation 'R3710:Car12'
ID |
259552 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Car12
|
Ensembl Gene |
ENSMUSG00000032373 |
Gene Name |
carbonic anhydrase 12 |
Synonyms |
CA XII, 2310047E01Rik |
MMRRC Submission |
040703-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3710 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
66620968-66674127 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 66658260 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 21
(A21S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071889]
[ENSMUST00000085420]
[ENSMUST00000134829]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071889
AA Change: A161S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000071786 Gene: ENSMUSG00000032373 AA Change: A161S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Carb_anhydrase
|
32 |
290 |
8.86e-126 |
SMART |
transmembrane domain
|
305 |
327 |
N/A |
INTRINSIC |
low complexity region
|
328 |
338 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085420
AA Change: A161S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082541 Gene: ENSMUSG00000032373 AA Change: A161S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Carb_anhydrase
|
32 |
290 |
8.86e-126 |
SMART |
transmembrane domain
|
295 |
317 |
N/A |
INTRINSIC |
low complexity region
|
318 |
328 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123195
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134829
AA Change: A21S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118030 Gene: ENSMUSG00000032373 AA Change: A21S
Domain | Start | End | E-Value | Type |
Carb_anhydrase
|
1 |
153 |
3.06e-15 |
SMART |
transmembrane domain
|
168 |
190 |
N/A |
INTRINSIC |
low complexity region
|
191 |
201 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152011
|
Meta Mutation Damage Score |
0.4596 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
98% (55/56) |
MGI Phenotype |
FUNCTION: This gene encodes a membrane-bound member of the alpha carbonic anhydrase family of enzymes that catalyze the reversible hydration of carbon dioxide to bicarbonate. These proteins participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] PHENOTYPE: Mice homozygous for a transposon-induced mutation that inactivates this gene display reduced fitness. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
T |
C |
15: 64,597,384 (GRCm39) |
|
probably benign |
Het |
Agbl2 |
G |
A |
2: 90,636,152 (GRCm39) |
D563N |
probably benign |
Het |
Aida |
C |
A |
1: 183,085,610 (GRCm39) |
|
probably null |
Het |
Ank1 |
A |
G |
8: 23,577,095 (GRCm39) |
D200G |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,470,808 (GRCm39) |
|
probably benign |
Het |
Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
Atrnl1 |
C |
A |
19: 57,645,546 (GRCm39) |
H469N |
probably damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bud23 |
A |
C |
5: 135,085,204 (GRCm39) |
S41A |
possibly damaging |
Het |
Cav3 |
T |
A |
6: 112,436,774 (GRCm39) |
M1K |
probably null |
Het |
Cdc42bpa |
A |
G |
1: 179,892,628 (GRCm39) |
D264G |
probably damaging |
Het |
Cic |
A |
G |
7: 24,986,406 (GRCm39) |
D1276G |
probably damaging |
Het |
Col2a1 |
A |
G |
15: 97,888,788 (GRCm39) |
|
probably benign |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Csn3 |
C |
A |
5: 88,077,882 (GRCm39) |
N129K |
possibly damaging |
Het |
Diaph1 |
C |
A |
18: 37,978,537 (GRCm39) |
G1209W |
probably damaging |
Het |
Dsg2 |
A |
G |
18: 20,735,174 (GRCm39) |
T1051A |
probably damaging |
Het |
Gm1965 |
A |
T |
6: 89,122,407 (GRCm39) |
|
noncoding transcript |
Het |
Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
Gsto1 |
T |
C |
19: 47,847,971 (GRCm39) |
|
probably null |
Het |
Il15ra |
G |
T |
2: 11,735,458 (GRCm39) |
|
probably null |
Het |
Ipo8 |
A |
T |
6: 148,707,842 (GRCm39) |
|
probably null |
Het |
Lsm14a |
T |
A |
7: 34,053,204 (GRCm39) |
I283F |
probably damaging |
Het |
Mael |
T |
C |
1: 166,066,135 (GRCm39) |
D34G |
probably damaging |
Het |
Marchf6 |
A |
T |
15: 31,509,972 (GRCm39) |
|
probably benign |
Het |
Mtmr10 |
C |
A |
7: 63,976,433 (GRCm39) |
A410D |
possibly damaging |
Het |
Myh9 |
T |
C |
15: 77,657,547 (GRCm39) |
E1066G |
possibly damaging |
Het |
Nim1k |
A |
G |
13: 120,173,635 (GRCm39) |
S420P |
probably benign |
Het |
Nlrp4c |
T |
A |
7: 6,068,627 (GRCm39) |
V176E |
probably damaging |
Het |
Ogfod1 |
A |
T |
8: 94,784,380 (GRCm39) |
K313* |
probably null |
Het |
Or5an1 |
T |
G |
19: 12,260,450 (GRCm39) |
F13V |
probably damaging |
Het |
Osbpl10 |
C |
A |
9: 115,036,655 (GRCm39) |
P253Q |
probably benign |
Het |
Otof |
A |
T |
5: 30,542,610 (GRCm39) |
M661K |
probably benign |
Het |
Rbms2 |
C |
T |
10: 127,979,312 (GRCm39) |
R139Q |
probably damaging |
Het |
Rimbp2 |
G |
A |
5: 128,866,795 (GRCm39) |
T508I |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,037,991 (GRCm39) |
C393* |
probably null |
Het |
Rps17 |
T |
A |
7: 80,994,672 (GRCm39) |
T30S |
probably benign |
Het |
Rps3 |
T |
C |
7: 99,128,626 (GRCm39) |
K197R |
probably benign |
Het |
Samd11 |
G |
A |
4: 156,334,952 (GRCm39) |
L109F |
probably damaging |
Het |
Smarca2 |
T |
G |
19: 26,646,290 (GRCm39) |
|
probably benign |
Het |
Sprr2g |
C |
A |
3: 92,282,036 (GRCm39) |
P30Q |
unknown |
Het |
Spz1 |
G |
A |
13: 92,711,631 (GRCm39) |
Q282* |
probably null |
Het |
Syne3 |
A |
G |
12: 104,909,697 (GRCm39) |
L713P |
possibly damaging |
Het |
Tgm1 |
C |
A |
14: 55,950,052 (GRCm39) |
|
probably benign |
Het |
Tomm22 |
T |
C |
15: 79,555,419 (GRCm39) |
F55L |
probably damaging |
Het |
Tph2 |
T |
A |
10: 115,009,963 (GRCm39) |
Y199F |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,682,932 (GRCm39) |
F757L |
probably benign |
Het |
Vmn2r69 |
T |
A |
7: 85,055,601 (GRCm39) |
T846S |
probably benign |
Het |
Was |
G |
T |
X: 7,952,927 (GRCm39) |
S271R |
probably benign |
Het |
Zc3hav1 |
A |
C |
6: 38,309,097 (GRCm39) |
M575R |
probably benign |
Het |
|
Other mutations in Car12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01915:Car12
|
APN |
9 |
66,670,552 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02280:Car12
|
APN |
9 |
66,653,857 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02347:Car12
|
APN |
9 |
66,671,629 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL02582:Car12
|
APN |
9 |
66,621,159 (GRCm39) |
missense |
probably benign |
|
IGL02612:Car12
|
APN |
9 |
66,669,706 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02645:Car12
|
APN |
9 |
66,654,961 (GRCm39) |
missense |
probably benign |
0.42 |
LCD18:Car12
|
UTSW |
9 |
66,668,958 (GRCm39) |
intron |
probably benign |
|
R2033:Car12
|
UTSW |
9 |
66,624,840 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2118:Car12
|
UTSW |
9 |
66,621,174 (GRCm39) |
missense |
probably benign |
0.05 |
R2263:Car12
|
UTSW |
9 |
66,654,913 (GRCm39) |
nonsense |
probably null |
|
R3111:Car12
|
UTSW |
9 |
66,661,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R3872:Car12
|
UTSW |
9 |
66,624,834 (GRCm39) |
splice site |
probably benign |
|
R3875:Car12
|
UTSW |
9 |
66,624,834 (GRCm39) |
splice site |
probably benign |
|
R4898:Car12
|
UTSW |
9 |
66,671,600 (GRCm39) |
nonsense |
probably null |
|
R5046:Car12
|
UTSW |
9 |
66,653,895 (GRCm39) |
missense |
probably benign |
|
R6238:Car12
|
UTSW |
9 |
66,661,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R6788:Car12
|
UTSW |
9 |
66,659,244 (GRCm39) |
missense |
probably damaging |
0.98 |
R7105:Car12
|
UTSW |
9 |
66,659,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R7231:Car12
|
UTSW |
9 |
66,659,599 (GRCm39) |
missense |
probably damaging |
0.99 |
R7380:Car12
|
UTSW |
9 |
66,654,945 (GRCm39) |
missense |
probably benign |
0.03 |
R8302:Car12
|
UTSW |
9 |
66,654,879 (GRCm39) |
missense |
probably benign |
|
R9781:Car12
|
UTSW |
9 |
66,624,844 (GRCm39) |
missense |
probably benign |
0.06 |
X0019:Car12
|
UTSW |
9 |
66,659,239 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Car12
|
UTSW |
9 |
66,659,236 (GRCm39) |
missense |
probably benign |
0.31 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGTTTGCAGGTAGAGAGGAC -3'
(R):5'- AAGCCTTATGAGGGCCACAC -3'
Sequencing Primer
(F):5'- TGGTAAAGGTAGGGGATCAGTTC -3'
(R):5'- ACCCTGCTCTGGAGGCAATG -3'
|
Posted On |
2015-01-23 |