Incidental Mutation 'R3111:Car12'
| ID |
263774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Car12
|
| Ensembl Gene |
ENSMUSG00000032373 |
| Gene Name |
carbonic anhydrase 12 |
| Synonyms |
CA XII, 2310047E01Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3111 ()
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
66620968-66674127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66661008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 124
(T124I)
|
| 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: T261I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071786
Gene: ENSMUSG00000032373
AA Change: T261I
| 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: T261I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082541
Gene: ENSMUSG00000032373
AA Change: T261I
| 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 |
probably damaging
Transcript: ENSMUST00000134829
AA Change: T124I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118030
Gene: ENSMUSG00000032373
AA Change: T124I
| 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 |
0.3484 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 98.4%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,069,655 (GRCm39) |
K1554* |
probably null |
Het |
| Ccdc180 |
T |
A |
4: 45,900,470 (GRCm39) |
I278K |
possibly damaging |
Het |
| Disp1 |
A |
T |
1: 182,869,087 (GRCm39) |
M1111K |
probably damaging |
Het |
| Fpr1 |
A |
T |
17: 18,096,897 (GRCm39) |
M364K |
probably benign |
Het |
| Gad1-ps |
A |
G |
10: 99,280,383 (GRCm39) |
|
noncoding transcript |
Het |
| Grn |
A |
G |
11: 102,324,069 (GRCm39) |
T53A |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,280,454 (GRCm39) |
N683S |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Mfap3 |
T |
C |
11: 57,420,406 (GRCm39) |
V129A |
probably damaging |
Het |
| Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
| Myh4 |
T |
A |
11: 67,137,276 (GRCm39) |
L499Q |
possibly damaging |
Het |
| Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
| Nmnat3 |
T |
A |
9: 98,281,533 (GRCm39) |
I45N |
probably damaging |
Het |
| Or1e32 |
T |
C |
11: 73,705,012 (GRCm39) |
R299G |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,940,290 (GRCm39) |
I232V |
probably benign |
Het |
| Pcdha12 |
A |
T |
18: 37,155,243 (GRCm39) |
H654L |
probably damaging |
Het |
| Pcmtd2 |
A |
T |
2: 181,496,922 (GRCm39) |
I300F |
probably damaging |
Het |
| Pds5b |
T |
C |
5: 150,643,372 (GRCm39) |
S65P |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,813,222 (GRCm39) |
T11I |
probably benign |
Het |
| Phf24 |
G |
A |
4: 42,938,316 (GRCm39) |
V226I |
probably benign |
Het |
| Pigo |
T |
C |
4: 43,021,083 (GRCm39) |
T612A |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,054,973 (GRCm39) |
|
probably benign |
Het |
| Ptprf |
T |
C |
4: 118,068,629 (GRCm39) |
D1713G |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,676,069 (GRCm39) |
V6F |
probably benign |
Het |
| Sac3d1 |
T |
C |
19: 6,168,387 (GRCm39) |
K77R |
probably benign |
Het |
| Slc1a6 |
T |
A |
10: 78,624,915 (GRCm39) |
S107T |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,381,579 (GRCm39) |
Q164R |
probably benign |
Het |
| Tgfbi |
T |
C |
13: 56,757,547 (GRCm39) |
Y30H |
probably damaging |
Het |
| Tmem217 |
A |
T |
17: 29,745,532 (GRCm39) |
V66D |
probably damaging |
Het |
| Tnn |
C |
A |
1: 159,934,625 (GRCm39) |
D1263Y |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,076,145 (GRCm39) |
F499L |
probably damaging |
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 |
|
|
R3710:Car12
|
UTSW |
9 |
66,658,260 (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'- CCGACAACAGTACCTAGTGAG -3'
(R):5'- TCTCCAAAGGACACTGTTTCC -3'
Sequencing Primer
(F):5'- CCTAGTGAGACCCTCAGAATAATGG -3'
(R):5'- CCAAAGGACACTGTTTCCTTAGTAGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation