Incidental Mutation 'R4527:Car2'
| ID |
334471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Car2
|
| Ensembl Gene |
ENSMUSG00000027562 |
| Gene Name |
carbonic anhydrase 2 |
| Synonyms |
CAII, Car-2, CA II, Ltw-5, Lvtw-5 |
| MMRRC Submission |
041768-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.467)
|
| Stock # |
R4527 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
14951333-14965830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 14963065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 200
(P200L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029078]
[ENSMUST00000192609]
|
| AlphaFold |
P00920 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029078
AA Change: P200L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029078
Gene: ENSMUSG00000027562
AA Change: P200L
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
5 |
259 |
1.2e-136 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192609
|
| SMART Domains |
Protein: ENSMUSP00000141876
Gene: ENSMUSG00000027562
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
5 |
115 |
8.2e-13 |
SMART |
|
| Meta Mutation Damage Score |
0.9749 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygous mutant mice are growth retarded, display renal tubular acidosis, but mutants have not been recovered that display osteopetrosis as found in human CA-II deficiency. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg2 |
A |
G |
5: 137,682,798 (GRCm39) |
V15A |
unknown |
Het |
| Asb3 |
A |
G |
11: 31,008,933 (GRCm39) |
D278G |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,815,424 (GRCm39) |
I780T |
probably benign |
Het |
| Cars1 |
A |
T |
7: 143,118,786 (GRCm39) |
M668K |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cer1 |
A |
G |
4: 82,802,906 (GRCm39) |
F139L |
possibly damaging |
Het |
| Crhr2 |
T |
A |
6: 55,109,838 (GRCm39) |
|
probably benign |
Het |
| Dnah7c |
G |
A |
1: 46,572,091 (GRCm39) |
E855K |
probably benign |
Het |
| Espn |
C |
T |
4: 152,220,106 (GRCm39) |
R339Q |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,293,163 (GRCm39) |
E481V |
probably benign |
Het |
| Gorab |
T |
G |
1: 163,224,705 (GRCm39) |
K32T |
possibly damaging |
Het |
| Mak16 |
G |
A |
8: 31,656,205 (GRCm39) |
Q93* |
probably null |
Het |
| Muc4 |
T |
C |
16: 32,576,217 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
T |
2: 52,083,249 (GRCm39) |
I5409N |
probably benign |
Het |
| Olfm4 |
C |
T |
14: 80,258,664 (GRCm39) |
S304F |
probably benign |
Het |
| Pask |
A |
G |
1: 93,248,224 (GRCm39) |
F1026L |
probably benign |
Het |
| Rab11a |
A |
G |
9: 64,632,850 (GRCm39) |
S19P |
probably benign |
Het |
| Rab11fip3 |
T |
C |
17: 26,255,631 (GRCm39) |
D541G |
probably damaging |
Het |
| Rnf10 |
T |
C |
5: 115,398,210 (GRCm39) |
S108G |
probably damaging |
Het |
| Rps4l-ps |
C |
T |
7: 114,526,403 (GRCm39) |
|
noncoding transcript |
Het |
| Shank1 |
A |
T |
7: 44,004,014 (GRCm39) |
H1902L |
possibly damaging |
Het |
| Slc8a3 |
T |
C |
12: 81,362,627 (GRCm39) |
Y64C |
probably damaging |
Het |
| Sorbs3 |
A |
C |
14: 70,445,066 (GRCm39) |
I4S |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,925,647 (GRCm39) |
N935S |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,954,499 (GRCm39) |
V525A |
probably damaging |
Het |
| Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
| Ttyh1 |
A |
T |
7: 4,122,763 (GRCm39) |
D4V |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,371,257 (GRCm39) |
L53Q |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,208,787 (GRCm39) |
N563K |
probably damaging |
Het |
| Xrcc5 |
C |
A |
1: 72,351,659 (GRCm39) |
N76K |
probably damaging |
Het |
| Zscan25 |
T |
C |
5: 145,220,268 (GRCm39) |
V21A |
probably damaging |
Het |
|
| Other mutations in Car2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01759:Car2
|
APN |
3 |
14,960,688 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02618:Car2
|
APN |
3 |
14,963,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03247:Car2
|
APN |
3 |
14,952,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Car2
|
APN |
3 |
14,960,629 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0257:Car2
|
UTSW |
3 |
14,965,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1260:Car2
|
UTSW |
3 |
14,960,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4409:Car2
|
UTSW |
3 |
14,960,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4681:Car2
|
UTSW |
3 |
14,960,624 (GRCm39) |
nonsense |
probably null |
|
|
R5677:Car2
|
UTSW |
3 |
14,963,115 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6343:Car2
|
UTSW |
3 |
14,953,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6530:Car2
|
UTSW |
3 |
14,961,791 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6786:Car2
|
UTSW |
3 |
14,951,710 (GRCm39) |
start gained |
probably benign |
|
|
R7010:Car2
|
UTSW |
3 |
14,965,113 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7682:Car2
|
UTSW |
3 |
14,953,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7805:Car2
|
UTSW |
3 |
14,965,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9086:Car2
|
UTSW |
3 |
14,952,968 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCTGCACAAAAGCCTTGC -3'
(R):5'- GGCTAATACCAGCAAATCTTTACTGC -3'
Sequencing Primer
(F):5'- CTTGCAATAAGAGCTGACTAGACCTG -3'
(R):5'- TTTACTGCCAAACACTCTGTGACAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation