Incidental Mutation 'R5046:Car12'
| ID |
453413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Car12
|
| Ensembl Gene |
ENSMUSG00000032373 |
| Gene Name |
carbonic anhydrase 12 |
| Synonyms |
CA XII, 2310047E01Rik |
| MMRRC Submission |
042636-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5046 (G1)
|
| Quality Score |
57 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
66620968-66674127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 66653895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 84
(E84K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071889]
[ENSMUST00000085420]
[ENSMUST00000134829]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071889
AA Change: E84K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071786
Gene: ENSMUSG00000032373
AA Change: E84K
| 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 benign
Transcript: ENSMUST00000085420
AA Change: E84K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082541
Gene: ENSMUSG00000032373
AA Change: E84K
| 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 benign
Transcript: ENSMUST00000134829
|
| SMART Domains |
Protein: ENSMUSP00000118030
Gene: ENSMUSG00000032373
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (52/52) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
C |
A |
7: 119,302,597 (GRCm39) |
H241N |
probably damaging |
Het |
| Arhgap32 |
G |
A |
9: 32,168,095 (GRCm39) |
A693T |
probably damaging |
Het |
| B4galnt3 |
G |
T |
6: 120,191,759 (GRCm39) |
A658D |
probably damaging |
Het |
| Crocc2 |
T |
A |
1: 93,133,624 (GRCm39) |
S969T |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,794,667 (GRCm39) |
V184A |
possibly damaging |
Het |
| Cryzl2 |
T |
C |
1: 157,292,583 (GRCm39) |
C122R |
probably damaging |
Het |
| Defb30 |
T |
C |
14: 63,273,463 (GRCm39) |
E49G |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,550,803 (GRCm39) |
L3161P |
probably damaging |
Het |
| Dnajc5g |
A |
G |
5: 31,267,036 (GRCm39) |
N104S |
probably benign |
Het |
| Fcgr1 |
T |
G |
3: 96,194,302 (GRCm39) |
K195T |
probably damaging |
Het |
| Gal |
C |
T |
19: 3,461,167 (GRCm39) |
R89H |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,925,316 (GRCm39) |
A577V |
probably benign |
Het |
| Gm5116 |
A |
C |
7: 32,195,379 (GRCm39) |
|
noncoding transcript |
Het |
| Golga3 |
A |
T |
5: 110,340,806 (GRCm39) |
Q540L |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,797,171 (GRCm39) |
E2184G |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,787,977 (GRCm39) |
D615G |
probably damaging |
Het |
| Igkv14-130 |
A |
T |
6: 67,768,465 (GRCm39) |
Y107F |
probably damaging |
Het |
| Ldlr |
T |
A |
9: 21,657,203 (GRCm39) |
|
probably null |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrrc37a |
A |
T |
11: 103,389,066 (GRCm39) |
S2120T |
unknown |
Het |
| Mtfmt |
G |
T |
9: 65,346,897 (GRCm39) |
V164F |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,883,037 (GRCm39) |
V74A |
probably damaging |
Het |
| Ndufc2 |
G |
T |
7: 97,056,871 (GRCm39) |
R120L |
probably damaging |
Het |
| Neo1 |
A |
T |
9: 58,801,194 (GRCm39) |
V1156D |
possibly damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,050,898 (GRCm39) |
P1065S |
possibly damaging |
Het |
| Nop9 |
A |
G |
14: 55,983,397 (GRCm39) |
H56R |
possibly damaging |
Het |
| Or4k41 |
A |
T |
2: 111,279,934 (GRCm39) |
T150S |
probably benign |
Het |
| Or6c75 |
A |
T |
10: 129,337,178 (GRCm39) |
M142L |
possibly damaging |
Het |
| Pign |
A |
T |
1: 105,449,798 (GRCm39) |
N909K |
possibly damaging |
Het |
| Prex1 |
A |
G |
2: 166,414,883 (GRCm39) |
V304A |
probably benign |
Het |
| Racgap1 |
G |
A |
15: 99,526,643 (GRCm39) |
R307W |
probably damaging |
Het |
| Rap1gds1 |
C |
A |
3: 138,661,181 (GRCm39) |
E399* |
probably null |
Het |
| Rwdd4a |
G |
A |
8: 47,995,837 (GRCm39) |
|
probably null |
Het |
| Sanbr |
A |
C |
11: 23,570,354 (GRCm39) |
M182R |
probably benign |
Het |
| Scp2 |
T |
C |
4: 107,928,488 (GRCm39) |
T401A |
probably benign |
Het |
| Sdha |
A |
G |
13: 74,475,452 (GRCm39) |
F526S |
probably damaging |
Het |
| Shroom1 |
T |
A |
11: 53,354,872 (GRCm39) |
L264Q |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,907,590 (GRCm39) |
T1466A |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,801,852 (GRCm39) |
C71Y |
probably damaging |
Het |
| Ugt2b34 |
G |
A |
5: 87,052,246 (GRCm39) |
S250L |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,650,638 (GRCm39) |
D117G |
probably benign |
Het |
| Wdr73 |
A |
T |
7: 80,542,173 (GRCm39) |
|
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 |
|
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 |
|
|
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'- TTGTGGAAAACTGAGCTTGAGTC -3'
(R):5'- GTTTTGAGATGTGCTACCCAC -3'
Sequencing Primer
(F):5'- GGAAAACTGAGCTTGAGTCTCTCC -3'
(R):5'- AATCACTGGAGCCAGGGC -3'
|
| Posted On |
2017-02-03 |
Incidental Mutation