Incidental Mutation 'R7217:Car14'
| ID |
561525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Car14
|
| Ensembl Gene |
ENSMUSG00000038526 |
| Gene Name |
carbonic anhydrase 14 |
| Synonyms |
CA XIV |
| MMRRC Submission |
045289-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7217 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95805080-95812003 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95806629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 250
(S250P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015894]
[ENSMUST00000036181]
[ENSMUST00000056710]
[ENSMUST00000147962]
[ENSMUST00000197081]
|
| AlphaFold |
Q9WVT6 |
| PDB Structure |
Crystal Structure of the Extracellular Domain of Murine Carbonic Anhydrase XIV [X-RAY DIFFRACTION]
Crystal Structure of the Extracellular Domain of Murine Carbonic Anhydrase XIV in Complex with Acetazolamide [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015894
|
| SMART Domains |
Protein: ENSMUSP00000015894
Gene: ENSMUSG00000015750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aph-1
|
2 |
246 |
7.3e-98 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036181
AA Change: S250P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036983
Gene: ENSMUSG00000038526
AA Change: S250P
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
22 |
278 |
2.43e-123 |
SMART |
|
transmembrane domain
|
290 |
312 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056710
|
| SMART Domains |
Protein: ENSMUSP00000058846
Gene: ENSMUSG00000015750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aph-1
|
2 |
239 |
1.2e-96 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147962
|
| SMART Domains |
Protein: ENSMUSP00000117464
Gene: ENSMUSG00000038526
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
8 |
171 |
1.79e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197081
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
91% (40/44) |
| 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 XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and display normal growth, health and fertility. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted, knock-out(1) Gene trapped(4) |
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
C |
A |
5: 138,645,188 (GRCm39) |
H358N |
probably benign |
Het |
| Abcg3 |
A |
G |
5: 105,087,094 (GRCm39) |
F543L |
possibly damaging |
Het |
| Asnsd1 |
T |
C |
1: 53,387,352 (GRCm39) |
T92A |
probably damaging |
Het |
| Atg2a |
G |
T |
19: 6,303,471 (GRCm39) |
|
probably null |
Het |
| Aven |
T |
A |
2: 112,461,191 (GRCm39) |
N327K |
possibly damaging |
Het |
| Brd9 |
T |
C |
13: 74,087,063 (GRCm39) |
V116A |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,345,422 (GRCm39) |
I138T |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,938 (GRCm39) |
Y2717H |
probably damaging |
Het |
| Eno1b |
C |
A |
18: 48,180,746 (GRCm39) |
T308K |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,372,857 (GRCm39) |
T949A |
probably benign |
Het |
| Fcrl5 |
C |
T |
3: 87,351,081 (GRCm39) |
T197M |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,416,023 (GRCm39) |
Q664L |
unknown |
Het |
| Fsip2 |
A |
T |
2: 82,819,412 (GRCm39) |
K5048N |
possibly damaging |
Het |
| Gcnt4 |
T |
C |
13: 97,082,818 (GRCm39) |
L38P |
probably damaging |
Het |
| Gpr68 |
A |
G |
12: 100,845,058 (GRCm39) |
V162A |
possibly damaging |
Het |
| Grin3a |
A |
T |
4: 49,770,741 (GRCm39) |
M677K |
possibly damaging |
Het |
| Grm7 |
A |
G |
6: 111,335,785 (GRCm39) |
Y732C |
probably damaging |
Het |
| H2-T15 |
A |
C |
17: 36,367,235 (GRCm39) |
M329R |
probably benign |
Het |
| Hoxb4 |
A |
G |
11: 96,209,906 (GRCm39) |
E104G |
probably benign |
Het |
| Kat7 |
A |
G |
11: 95,182,390 (GRCm39) |
S237P |
possibly damaging |
Het |
| Kif13b |
T |
C |
14: 65,010,517 (GRCm39) |
V1272A |
probably damaging |
Het |
| Kif20a |
T |
A |
18: 34,762,613 (GRCm39) |
H495Q |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,071,668 (GRCm39) |
T852S |
|
Het |
| Mep1b |
T |
A |
18: 21,226,600 (GRCm39) |
D487E |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,305,911 (GRCm39) |
T656A |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,313,481 (GRCm39) |
W902R |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,555,372 (GRCm39) |
Y3640* |
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,722,536 (GRCm39) |
I2424T |
probably benign |
Het |
| Prl8a2 |
A |
G |
13: 27,534,998 (GRCm39) |
E91G |
possibly damaging |
Het |
| Prpf18 |
A |
G |
2: 4,650,435 (GRCm39) |
V65A |
probably benign |
Het |
| Pxmp2 |
A |
G |
5: 110,433,771 (GRCm39) |
V34A |
probably damaging |
Het |
| Ranbp2 |
T |
G |
10: 58,287,839 (GRCm39) |
Y36D |
probably damaging |
Het |
| Rbm25 |
G |
A |
12: 83,710,991 (GRCm39) |
R368Q |
unknown |
Het |
| Rims2 |
C |
A |
15: 39,339,885 (GRCm39) |
L860M |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,868,108 (GRCm39) |
M318L |
probably benign |
Het |
| Slc35b2 |
A |
G |
17: 45,875,955 (GRCm39) |
T55A |
probably benign |
Het |
| Trnp1 |
T |
C |
4: 133,225,416 (GRCm39) |
E118G |
possibly damaging |
Het |
| Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,049,785 (GRCm39) |
H1680Q |
probably damaging |
Het |
| Zfp131 |
A |
G |
13: 120,237,377 (GRCm39) |
I327T |
probably damaging |
Het |
| Zfp729b |
A |
G |
13: 67,743,367 (GRCm39) |
V66A |
probably damaging |
Het |
|
| Other mutations in Car14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Car14
|
APN |
3 |
95,806,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01287:Car14
|
APN |
3 |
95,806,871 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01900:Car14
|
APN |
3 |
95,808,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02402:Car14
|
APN |
3 |
95,806,870 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03152:Car14
|
APN |
3 |
95,806,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Car14
|
UTSW |
3 |
95,806,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Car14
|
UTSW |
3 |
95,808,560 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4521:Car14
|
UTSW |
3 |
95,811,690 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4776:Car14
|
UTSW |
3 |
95,806,185 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5709:Car14
|
UTSW |
3 |
95,806,300 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6358:Car14
|
UTSW |
3 |
95,805,487 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6895:Car14
|
UTSW |
3 |
95,805,472 (GRCm39) |
missense |
probably benign |
|
|
R7648:Car14
|
UTSW |
3 |
95,805,507 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7763:Car14
|
UTSW |
3 |
95,811,684 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R8530:Car14
|
UTSW |
3 |
95,807,670 (GRCm39) |
missense |
probably benign |
|
|
X0026:Car14
|
UTSW |
3 |
95,806,521 (GRCm39) |
unclassified |
probably benign |
|
|
X0064:Car14
|
UTSW |
3 |
95,808,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTCCTGGGGATGATTCC -3'
(R):5'- GAGCAATTCTTCCGCTACAAC -3'
Sequencing Primer
(F):5'- ATTCCCGGTCCAGAGGTGTAC -3'
(R):5'- CGCTACAACGGCTCACTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation