Incidental Mutation 'R6388:Car5a'
| ID |
515636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Car5a
|
| Ensembl Gene |
ENSMUSG00000025317 |
| Gene Name |
carbonic anhydrase 5a, mitochondrial |
| Synonyms |
Car5 |
| MMRRC Submission |
044537-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R6388 (G1)
|
| Quality Score |
177.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
122642874-122671651 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122653910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 118
(Y118C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057653]
[ENSMUST00000127664]
|
| AlphaFold |
P23589 |
| PDB Structure |
MURINE MITOCHONDRIAL CARBONIC ANYHDRASE V AT 2.45 ANGSTROMS RESOLUTION [X-RAY DIFFRACTION]
COMPLEX BETWEEN MURINE MITOCHONDRIAL CARBONIC ANYHDRASE V AND THE TRANSITION STATE ANALOGUE ACETAZOLAMIDE [X-RAY DIFFRACTION]
Crystal Structure of F65A/Y131C Carbonic Anhydrase V, covalently modified with 4-chloromethylimidazole [X-RAY DIFFRACTION]
MURINE CARBONIC ANHYDRASE V [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057653
AA Change: Y118C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060457
Gene: ENSMUSG00000025317
AA Change: Y118C
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
27 |
290 |
6.61e-125 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151462
|
| Meta Mutation Damage Score |
0.9576 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
100% (35/35) |
| 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. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, hyperammonemia, and increased levels of urinary metabolites. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,410,230 (GRCm39) |
R560W |
probably benign |
Het |
| Abi3 |
A |
G |
11: 95,724,464 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
T |
C |
11: 4,976,319 (GRCm39) |
I449T |
probably damaging |
Het |
| Atpaf2 |
C |
A |
11: 60,307,833 (GRCm39) |
|
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Ciao1 |
A |
T |
2: 127,088,396 (GRCm39) |
C142* |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,314,243 (GRCm39) |
*460R |
probably null |
Het |
| Defb30 |
T |
A |
14: 63,287,213 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,906,710 (GRCm39) |
K4247R |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,058,081 (GRCm39) |
A128T |
unknown |
Het |
| Fam3b |
T |
C |
16: 97,279,591 (GRCm39) |
T113A |
probably benign |
Het |
| Fam98c |
C |
T |
7: 28,854,728 (GRCm39) |
R126Q |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,738,319 (GRCm39) |
L623F |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,913,183 (GRCm39) |
D543G |
probably benign |
Het |
| Gpatch8 |
A |
T |
11: 102,369,314 (GRCm39) |
V1408E |
probably damaging |
Het |
| Icosl |
T |
A |
10: 77,905,366 (GRCm39) |
L3Q |
possibly damaging |
Homo |
| Igf2r |
A |
G |
17: 12,902,787 (GRCm39) |
V2421A |
probably benign |
Het |
| Iglon5 |
T |
C |
7: 43,127,556 (GRCm39) |
T165A |
possibly damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,279 (GRCm39) |
E2G |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,330,268 (GRCm39) |
C2386S |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,052,501 (GRCm39) |
E837G |
possibly damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,174,145 (GRCm39) |
E720G |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,118 (GRCm39) |
S67P |
probably damaging |
Het |
| Pla1a |
T |
A |
16: 38,217,834 (GRCm39) |
M385L |
probably benign |
Het |
| Saxo4 |
A |
G |
19: 10,459,665 (GRCm39) |
V14A |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,662,146 (GRCm39) |
T82A |
probably benign |
Het |
| Smarcd3 |
A |
G |
5: 24,801,024 (GRCm39) |
F128L |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Syvn1 |
T |
A |
19: 6,102,381 (GRCm39) |
V483E |
probably damaging |
Het |
| Timm22 |
G |
A |
11: 76,297,945 (GRCm39) |
V19I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,621,189 (GRCm39) |
D15716Y |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,954,669 (GRCm39) |
|
probably null |
Het |
| Ugp2 |
A |
G |
11: 21,272,051 (GRCm39) |
|
probably null |
Het |
| Vmn1r13 |
T |
A |
6: 57,186,903 (GRCm39) |
F21I |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,882,144 (GRCm39) |
S1150G |
probably benign |
Het |
| Zp3 |
T |
C |
5: 136,011,548 (GRCm39) |
V122A |
probably benign |
Het |
|
| Other mutations in Car5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01890:Car5a
|
APN |
8 |
122,650,349 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01972:Car5a
|
APN |
8 |
122,653,821 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0152:Car5a
|
UTSW |
8 |
122,643,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0562:Car5a
|
UTSW |
8 |
122,671,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0699:Car5a
|
UTSW |
8 |
122,671,555 (GRCm39) |
unclassified |
probably benign |
|
|
R1827:Car5a
|
UTSW |
8 |
122,650,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2274:Car5a
|
UTSW |
8 |
122,671,408 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4261:Car5a
|
UTSW |
8 |
122,671,488 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5436:Car5a
|
UTSW |
8 |
122,643,981 (GRCm39) |
intron |
probably benign |
|
|
R5869:Car5a
|
UTSW |
8 |
122,643,119 (GRCm39) |
missense |
probably benign |
|
|
R5937:Car5a
|
UTSW |
8 |
122,666,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6803:Car5a
|
UTSW |
8 |
122,650,504 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7369:Car5a
|
UTSW |
8 |
122,650,573 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8919:Car5a
|
UTSW |
8 |
122,671,519 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Car5a
|
UTSW |
8 |
122,643,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCGACAGTGAGGTCTAGTC -3'
(R):5'- TTTTGCAGCACAGCGATCG -3'
Sequencing Primer
(F):5'- ACAGTGAGGTCTAGTCACCCTGTAG -3'
(R):5'- TGTGTAGAAGGTTGCCCCCATC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation