Incidental Mutation 'R0497:Car9'
| ID |
40519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Car9
|
| Ensembl Gene |
ENSMUSG00000028463 |
| Gene Name |
carbonic anhydrase 9 |
| Synonyms |
CAIX, MN/CA9 |
| MMRRC Submission |
038693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0497 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43507026-43513729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43511881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 300
(L300H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030183]
[ENSMUST00000030184]
[ENSMUST00000107913]
[ENSMUST00000107914]
|
| AlphaFold |
Q8VHB5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030183
AA Change: L300H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030183
Gene: ENSMUSG00000028463
AA Change: L300H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
80 |
N/A |
INTRINSIC |
|
Carb_anhydrase
|
120 |
369 |
2.72e-103 |
SMART |
|
Blast:Carb_anhydrase
|
378 |
427 |
7e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030184
|
| SMART Domains |
Protein: ENSMUSP00000030184
Gene: ENSMUSG00000028464
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
3.3e-39 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
1.5e-97 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107913
|
| SMART Domains |
Protein: ENSMUSP00000103546
Gene: ENSMUSG00000028464
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
6.5e-36 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
4.8e-98 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107914
|
| SMART Domains |
Protein: ENSMUSP00000103547
Gene: ENSMUSG00000028464
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
7.2e-39 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
6.3e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124114
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126750
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129996
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150262
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133355
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139119
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149817
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154251
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138073
|
| SMART Domains |
Protein: ENSMUSP00000114493
Gene: ENSMUSG00000028463
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
35 |
237 |
6.18e-43 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
100% (68/68) |
| 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 IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a targeted mutation are viable and fertile but develop hyperplasia of the glandular gastric epithelium with numerous cysts. Mice homozygous for a different mutation show an increased mean percentage of mature B cells in bone marrow. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
C |
11: 119,909,606 (GRCm39) |
V110G |
probably damaging |
Het |
| Adcy6 |
A |
C |
15: 98,495,606 (GRCm39) |
|
probably null |
Het |
| Adm |
A |
G |
7: 110,228,328 (GRCm39) |
T170A |
probably benign |
Het |
| Afap1l2 |
G |
T |
19: 56,918,641 (GRCm39) |
N171K |
probably benign |
Het |
| Aph1b |
G |
T |
9: 66,697,900 (GRCm39) |
S112* |
probably null |
Het |
| Arhgap23 |
A |
G |
11: 97,342,989 (GRCm39) |
S424G |
probably damaging |
Het |
| Asah2 |
T |
A |
19: 32,032,031 (GRCm39) |
N46I |
probably benign |
Het |
| Braf |
G |
A |
6: 39,617,483 (GRCm39) |
|
probably benign |
Het |
| Brd2 |
C |
T |
17: 34,333,334 (GRCm39) |
R47Q |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,957,819 (GRCm39) |
V972A |
probably benign |
Het |
| Chmp3 |
T |
C |
6: 71,529,395 (GRCm39) |
S20P |
probably damaging |
Het |
| Chp1 |
A |
G |
2: 119,402,263 (GRCm39) |
N79S |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,334,260 (GRCm39) |
I335N |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,296,783 (GRCm39) |
V6A |
probably benign |
Het |
| Ctcf |
T |
A |
8: 106,401,672 (GRCm39) |
|
probably benign |
Het |
| Dennd1b |
A |
G |
1: 138,967,724 (GRCm39) |
|
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,845,079 (GRCm39) |
|
probably benign |
Het |
| Eef2 |
T |
C |
10: 81,017,420 (GRCm39) |
F782L |
probably benign |
Het |
| Eogt |
T |
A |
6: 97,112,194 (GRCm39) |
Y153F |
probably benign |
Het |
| Fam81a |
G |
T |
9: 70,003,401 (GRCm39) |
Q237K |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,174,228 (GRCm39) |
T2162S |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,846,890 (GRCm39) |
C1158S |
probably damaging |
Het |
| Gas6 |
T |
C |
8: 13,520,387 (GRCm39) |
I434V |
possibly damaging |
Het |
| Gm42417 |
A |
T |
1: 36,571,248 (GRCm39) |
L77Q |
probably damaging |
Het |
| Grik3 |
A |
T |
4: 125,517,303 (GRCm39) |
N49Y |
possibly damaging |
Het |
| Gucy2e |
A |
T |
11: 69,114,985 (GRCm39) |
V974E |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,871,449 (GRCm39) |
V2721A |
probably damaging |
Het |
| Klhl6 |
GT |
G |
16: 19,775,716 (GRCm39) |
279 |
probably null |
Het |
| Krt73 |
A |
G |
15: 101,710,665 (GRCm39) |
L23P |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,158,772 (GRCm39) |
|
probably benign |
Het |
| Lrrc15 |
A |
T |
16: 30,091,710 (GRCm39) |
V543E |
probably damaging |
Het |
| Med13 |
G |
A |
11: 86,167,809 (GRCm39) |
|
probably benign |
Het |
| Med25 |
T |
C |
7: 44,541,524 (GRCm39) |
D60G |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,641,826 (GRCm39) |
Y560N |
probably damaging |
Het |
| Mlkl |
A |
G |
8: 112,054,505 (GRCm39) |
Y211H |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,978,493 (GRCm39) |
N289S |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,963,686 (GRCm39) |
W1090L |
probably damaging |
Het |
| Omt2b |
T |
C |
9: 78,235,513 (GRCm39) |
|
probably benign |
Het |
| Or4k37 |
A |
G |
2: 111,159,175 (GRCm39) |
D137G |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,177,094 (GRCm39) |
L652P |
probably damaging |
Het |
| Pard3b |
T |
A |
1: 62,479,167 (GRCm39) |
|
probably null |
Het |
| Prdm15 |
G |
A |
16: 97,595,534 (GRCm39) |
T1098I |
possibly damaging |
Het |
| Rock2 |
A |
G |
12: 17,004,954 (GRCm39) |
T436A |
probably benign |
Het |
| Sema4c |
A |
T |
1: 36,588,689 (GRCm39) |
D812E |
probably benign |
Het |
| Sla |
A |
T |
15: 66,664,098 (GRCm39) |
I91K |
probably benign |
Het |
| Slc22a16 |
T |
G |
10: 40,460,963 (GRCm39) |
M255R |
probably damaging |
Het |
| Slc49a4 |
A |
T |
16: 35,555,974 (GRCm39) |
V162D |
probably benign |
Het |
| Smg8 |
C |
T |
11: 86,976,910 (GRCm39) |
D224N |
possibly damaging |
Het |
| Spdef |
A |
T |
17: 27,937,032 (GRCm39) |
D190E |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,464,630 (GRCm39) |
I152T |
probably damaging |
Het |
| Tmem220 |
A |
G |
11: 66,916,748 (GRCm39) |
D36G |
probably damaging |
Het |
| Tmem235 |
A |
C |
11: 117,755,177 (GRCm39) |
I210L |
probably benign |
Het |
| Tmem266 |
C |
T |
9: 55,288,168 (GRCm39) |
|
probably null |
Het |
| Tmprss12 |
A |
G |
15: 100,178,920 (GRCm39) |
|
probably benign |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 81,711,053 (GRCm39) |
|
probably benign |
Het |
| Usp44 |
C |
T |
10: 93,682,668 (GRCm39) |
P373S |
possibly damaging |
Het |
| Vmn1r209 |
G |
T |
13: 22,990,118 (GRCm39) |
Q191K |
probably damaging |
Het |
| Vmn1r70 |
T |
C |
7: 10,367,953 (GRCm39) |
I147T |
probably benign |
Het |
| Vmn2r107 |
T |
A |
17: 20,595,394 (GRCm39) |
I649N |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,755 (GRCm39) |
Y269* |
probably null |
Het |
| Zan |
C |
T |
5: 137,410,938 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
G |
T |
11: 73,974,306 (GRCm39) |
V192L |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,786,199 (GRCm39) |
V116D |
probably damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,378,299 (GRCm39) |
|
probably benign |
Het |
| Zhx3 |
A |
T |
2: 160,621,914 (GRCm39) |
L751* |
probably null |
Het |
| Znfx1 |
T |
A |
2: 166,897,331 (GRCm39) |
Q531L |
probably benign |
Het |
|
| Other mutations in Car9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01678:Car9
|
APN |
4 |
43,512,941 (GRCm39) |
splice site |
probably benign |
|
|
IGL01893:Car9
|
APN |
4 |
43,510,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02064:Car9
|
APN |
4 |
43,507,363 (GRCm39) |
missense |
probably benign |
|
|
R0122:Car9
|
UTSW |
4 |
43,512,206 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0314:Car9
|
UTSW |
4 |
43,509,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1018:Car9
|
UTSW |
4 |
43,512,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1132:Car9
|
UTSW |
4 |
43,512,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1218:Car9
|
UTSW |
4 |
43,512,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1219:Car9
|
UTSW |
4 |
43,512,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1222:Car9
|
UTSW |
4 |
43,512,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1350:Car9
|
UTSW |
4 |
43,512,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1351:Car9
|
UTSW |
4 |
43,512,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1352:Car9
|
UTSW |
4 |
43,512,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1353:Car9
|
UTSW |
4 |
43,512,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1389:Car9
|
UTSW |
4 |
43,512,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1417:Car9
|
UTSW |
4 |
43,512,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1470:Car9
|
UTSW |
4 |
43,510,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Car9
|
UTSW |
4 |
43,510,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Car9
|
UTSW |
4 |
43,512,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1818:Car9
|
UTSW |
4 |
43,512,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1819:Car9
|
UTSW |
4 |
43,512,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4033:Car9
|
UTSW |
4 |
43,508,624 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4597:Car9
|
UTSW |
4 |
43,509,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Car9
|
UTSW |
4 |
43,507,267 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4719:Car9
|
UTSW |
4 |
43,508,616 (GRCm39) |
nonsense |
probably null |
|
|
R5402:Car9
|
UTSW |
4 |
43,510,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5624:Car9
|
UTSW |
4 |
43,509,146 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6471:Car9
|
UTSW |
4 |
43,511,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6850:Car9
|
UTSW |
4 |
43,507,321 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7318:Car9
|
UTSW |
4 |
43,513,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7680:Car9
|
UTSW |
4 |
43,507,250 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8378:Car9
|
UTSW |
4 |
43,509,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9313:Car9
|
UTSW |
4 |
43,507,180 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0067:Car9
|
UTSW |
4 |
43,507,198 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTATGCTTGTCCCGAAAGCTTCC -3'
(R):5'- TTGTAGCCGAGAATCACGAGGTCC -3'
Sequencing Primer
(F):5'- TTCCAAGGGGCAGCAGTG -3'
(R):5'- GTCGATGGATAGTACAGGCTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation