Incidental Mutation 'R6508:Car4'
| ID |
524013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Car4
|
| Ensembl Gene |
ENSMUSG00000000805 |
| Gene Name |
carbonic anhydrase 4 |
| Synonyms |
CA IV |
| MMRRC Submission |
044638-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R6508 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
84848612-84856870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 84856469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 252
(D252E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103194]
[ENSMUST00000127827]
[ENSMUST00000150596]
|
| AlphaFold |
Q64444 |
| PDB Structure |
MURINE CARBONIC ANHYDRASE IV [X-RAY DIFFRACTION]
MURINE CARBONIC ANHYDRASE IV COMPLEXED WITH BRINZOLAMIDE [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103194
AA Change: D252E
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099483
Gene: ENSMUSG00000000805
AA Change: D252E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Carb_anhydrase
|
22 |
278 |
2.37e-103 |
SMART |
|
low complexity region
|
283 |
299 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000108076
AA Change: D110E
|
| SMART Domains |
Protein: ENSMUSP00000103711
Gene: ENSMUSG00000000805
AA Change: D110E
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
3 |
137 |
9.49e-7 |
SMART |
|
low complexity region
|
142 |
158 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127827
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139416
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150596
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They 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. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are produced in lower than expected numbers, with females preferentially lost in the fetal or early postnatal period. Surviving homozygotes are healthy and fertile when crossed with wild-type partners; however, homozygous intercrosses yield small litters and pups do not survive. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
G |
A |
4: 144,291,590 (GRCm39) |
R39* |
probably null |
Het |
| Brca2 |
A |
T |
5: 150,460,058 (GRCm39) |
E444D |
possibly damaging |
Het |
| Camkk2 |
G |
T |
5: 122,884,382 (GRCm39) |
N346K |
probably damaging |
Het |
| Chd1 |
A |
G |
17: 15,958,895 (GRCm39) |
K649R |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,557,231 (GRCm39) |
Y1966H |
probably damaging |
Het |
| Crppa |
C |
T |
12: 36,476,298 (GRCm39) |
A180V |
possibly damaging |
Het |
| Cts6 |
T |
A |
13: 61,344,221 (GRCm39) |
H277L |
probably damaging |
Het |
| Dcc |
G |
T |
18: 71,439,144 (GRCm39) |
P1246Q |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,188,774 (GRCm39) |
T1739I |
probably benign |
Het |
| Eci1 |
T |
A |
17: 24,656,283 (GRCm39) |
N164K |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,679,525 (GRCm39) |
R26H |
probably damaging |
Het |
| Fanci |
A |
G |
7: 79,093,516 (GRCm39) |
K1008E |
probably damaging |
Het |
| Htr2b |
T |
C |
1: 86,030,186 (GRCm39) |
T170A |
possibly damaging |
Het |
| Irgm2 |
A |
G |
11: 58,110,327 (GRCm39) |
E18G |
probably benign |
Het |
| Kdm1a |
A |
T |
4: 136,281,621 (GRCm39) |
V630E |
probably damaging |
Het |
| Keap1 |
G |
A |
9: 21,143,010 (GRCm39) |
T501I |
possibly damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,194,325 (GRCm39) |
H424L |
unknown |
Het |
| Lrrc14b |
C |
T |
13: 74,511,337 (GRCm39) |
D248N |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,363,535 (GRCm39) |
D3364V |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,272,253 (GRCm39) |
G794S |
probably benign |
Het |
| Mcat |
T |
C |
15: 83,433,452 (GRCm39) |
Q34R |
probably benign |
Het |
| Mettl4 |
T |
C |
17: 95,051,373 (GRCm39) |
E148G |
probably damaging |
Het |
| Mgat3 |
T |
C |
15: 80,096,225 (GRCm39) |
S351P |
possibly damaging |
Het |
| Mllt1 |
A |
T |
17: 57,234,054 (GRCm39) |
I44N |
probably damaging |
Het |
| Mlxipl |
G |
T |
5: 135,157,474 (GRCm39) |
A337S |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,572,973 (GRCm39) |
F254L |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,944,973 (GRCm39) |
|
probably null |
Het |
| Or10q1 |
C |
T |
19: 13,726,718 (GRCm39) |
P83S |
probably damaging |
Het |
| Pcdh12 |
G |
A |
18: 38,414,390 (GRCm39) |
R912* |
probably null |
Het |
| Pcdh17 |
A |
G |
14: 84,685,419 (GRCm39) |
N629D |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,959,479 (GRCm39) |
I170T |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,956,290 (GRCm39) |
Y746C |
probably damaging |
Het |
| Pramel29 |
A |
T |
4: 143,934,171 (GRCm39) |
L312* |
probably null |
Het |
| Pum2 |
T |
C |
12: 8,798,861 (GRCm39) |
Y991H |
probably benign |
Het |
| Rcc1l |
A |
T |
5: 134,198,077 (GRCm39) |
V185D |
probably damaging |
Het |
| Scarb1 |
A |
T |
5: 125,381,389 (GRCm39) |
S52T |
possibly damaging |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Spata4 |
T |
C |
8: 55,053,887 (GRCm39) |
S18P |
probably benign |
Het |
| Stard13 |
G |
A |
5: 150,986,754 (GRCm39) |
T134I |
probably benign |
Het |
| Tbc1d32 |
C |
T |
10: 56,100,786 (GRCm39) |
C64Y |
probably damaging |
Het |
| Tll1 |
T |
G |
8: 64,551,494 (GRCm39) |
I296L |
probably damaging |
Het |
| Tmem229b |
T |
G |
12: 79,011,680 (GRCm39) |
T84P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,757 (GRCm39) |
T32782A |
possibly damaging |
Het |
| Vmn1r73 |
G |
A |
7: 11,490,631 (GRCm39) |
V150I |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,030,290 (GRCm39) |
F705L |
probably benign |
Het |
|
| Other mutations in Car4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Car4
|
APN |
11 |
84,856,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01121:Car4
|
APN |
11 |
84,855,172 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01828:Car4
|
APN |
11 |
84,855,571 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02340:Car4
|
APN |
11 |
84,856,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02351:Car4
|
APN |
11 |
84,856,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02353:Car4
|
APN |
11 |
84,856,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02358:Car4
|
APN |
11 |
84,856,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02360:Car4
|
APN |
11 |
84,856,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4802001:Car4
|
UTSW |
11 |
84,855,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Car4
|
UTSW |
11 |
84,854,237 (GRCm39) |
unclassified |
probably benign |
|
|
R0501:Car4
|
UTSW |
11 |
84,854,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2124:Car4
|
UTSW |
11 |
84,854,911 (GRCm39) |
splice site |
probably benign |
|
|
R3907:Car4
|
UTSW |
11 |
84,855,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Car4
|
UTSW |
11 |
84,854,193 (GRCm39) |
missense |
probably benign |
|
|
R5268:Car4
|
UTSW |
11 |
84,856,626 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5562:Car4
|
UTSW |
11 |
84,854,924 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7775:Car4
|
UTSW |
11 |
84,856,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Car4
|
UTSW |
11 |
84,855,009 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8956:Car4
|
UTSW |
11 |
84,855,377 (GRCm39) |
missense |
probably null |
1.00 |
|
R9334:Car4
|
UTSW |
11 |
84,855,415 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Car4
|
UTSW |
11 |
84,854,245 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTCAGCTTCCCACAAATG -3'
(R):5'- AGATAAGCCATGTCCTCTAAAGGC -3'
Sequencing Primer
(F):5'- AATGCCACACTTGACACTCTTGG -3'
(R):5'- CATGTCCTCTAAAGGCTGAGGTCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation