Incidental Mutation 'IGL01893:Car9'
ID179294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car9
Ensembl Gene ENSMUSG00000028463
Gene Namecarbonic anhydrase 9
SynonymsCAIX, MN/CA9
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01893
Quality Score
Status
Chromosome4
Chromosomal Location43506966-43513729 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 43510252 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 278 (I278N)
Ref Sequence ENSEMBL: ENSMUSP00000030183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030183] [ENSMUST00000030184] [ENSMUST00000107913] [ENSMUST00000107914]
Predicted Effect probably damaging
Transcript: ENSMUST00000030183
AA Change: I278N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030183
Gene: ENSMUSG00000028463
AA Change: I278N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000138073
AA Change: I192N
SMART Domains Protein: ENSMUSP00000114493
Gene: ENSMUSG00000028463
AA Change: I192N

DomainStartEndE-ValueType
Carb_anhydrase 35 237 6.18e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154251
Coding Region Coverage
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. 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T A 3: 116,788,549 I275F probably damaging Het
Avil G A 10: 127,020,546 E815K possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cast T A 13: 74,727,289 K480* probably null Het
Cenpj A G 14: 56,553,474 F373L probably damaging Het
Cspp1 T C 1: 10,134,141 probably null Het
Diaph3 G A 14: 86,918,852 T675I possibly damaging Het
Dip2b A T 15: 100,171,220 probably benign Het
Dnah1 T C 14: 31,266,470 D3425G probably damaging Het
Dolk A G 2: 30,285,914 Y40H probably benign Het
Drosha T C 15: 12,866,650 probably benign Het
Dusp15 A G 2: 152,949,036 probably null Het
Edrf1 T C 7: 133,657,102 F770L probably benign Het
Gabra1 T C 11: 42,133,759 K363R possibly damaging Het
Glipr1l1 A C 10: 112,076,169 T203P probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
H2-Q10 T C 17: 35,473,271 S270P probably damaging Het
Hipk2 A T 6: 38,818,395 M313K probably benign Het
Htt T A 5: 34,876,830 I1920N probably damaging Het
Lsr A T 7: 30,962,232 V210E possibly damaging Het
Mbtd1 A T 11: 93,921,412 I181L probably null Het
Mettl16 A T 11: 74,805,271 T273S possibly damaging Het
Mlst8 T C 17: 24,477,987 N74D probably benign Het
Nek9 A G 12: 85,336,400 I102T probably damaging Het
Nme7 C T 1: 164,345,281 A187V probably damaging Het
Nphp1 A T 2: 127,769,644 W261R probably damaging Het
Olfr1148 G T 2: 87,833,863 G275* probably null Het
Olfr1306 A T 2: 111,912,244 S229T possibly damaging Het
Olfr90 A G 17: 37,085,868 L99P probably damaging Het
Orc6 A G 8: 85,307,643 D165G probably damaging Het
Ovca2 A G 11: 75,178,307 S89P probably benign Het
Pcdhb12 T G 18: 37,437,210 S470A probably benign Het
Phactr2 T C 10: 13,247,188 T397A probably benign Het
Pms2 T C 5: 143,923,519 L50P probably damaging Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Serpinb11 C A 1: 107,377,657 S254R probably benign Het
Serpinb11 C A 1: 107,377,658 Q255K probably benign Het
Skap2 T C 6: 51,874,576 T79A probably damaging Het
Tbx19 A T 1: 165,140,198 S327T possibly damaging Het
Themis3 A G 17: 66,559,627 L206P possibly damaging Het
Tmem132c T A 5: 127,463,029 L373Q possibly damaging Het
Unc13c G T 9: 73,693,366 N1365K probably benign Het
Vmn2r106 A T 17: 20,277,468 M503K probably benign Het
Vmn2r33 A G 7: 7,563,777 I112T probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13a A C 19: 16,663,775 W2328G probably damaging Het
Other mutations in Car9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01678:Car9 APN 4 43512941 splice site probably benign
IGL02064:Car9 APN 4 43507363 missense probably benign
R0122:Car9 UTSW 4 43512206 missense probably benign 0.05
R0314:Car9 UTSW 4 43509212 critical splice donor site probably null
R0497:Car9 UTSW 4 43511881 missense probably damaging 1.00
R1018:Car9 UTSW 4 43512439 critical splice donor site probably null
R1132:Car9 UTSW 4 43512439 critical splice donor site probably null
R1218:Car9 UTSW 4 43512439 critical splice donor site probably null
R1219:Car9 UTSW 4 43512439 critical splice donor site probably null
R1222:Car9 UTSW 4 43512439 critical splice donor site probably null
R1350:Car9 UTSW 4 43512439 critical splice donor site probably null
R1351:Car9 UTSW 4 43512439 critical splice donor site probably null
R1352:Car9 UTSW 4 43512439 critical splice donor site probably null
R1353:Car9 UTSW 4 43512439 critical splice donor site probably null
R1389:Car9 UTSW 4 43512439 critical splice donor site probably null
R1417:Car9 UTSW 4 43512439 critical splice donor site probably null
R1470:Car9 UTSW 4 43510222 missense probably damaging 1.00
R1470:Car9 UTSW 4 43510222 missense probably damaging 1.00
R1573:Car9 UTSW 4 43512439 critical splice donor site probably null
R1818:Car9 UTSW 4 43512439 critical splice donor site probably null
R1819:Car9 UTSW 4 43512439 critical splice donor site probably null
R4033:Car9 UTSW 4 43508624 missense possibly damaging 0.52
R4597:Car9 UTSW 4 43509138 missense probably damaging 1.00
R4609:Car9 UTSW 4 43507267 missense possibly damaging 0.81
R4719:Car9 UTSW 4 43508616 nonsense probably null
R5402:Car9 UTSW 4 43510213 missense probably damaging 1.00
R5624:Car9 UTSW 4 43509146 missense probably benign 0.03
R6471:Car9 UTSW 4 43511938 missense probably damaging 1.00
R6850:Car9 UTSW 4 43507321 missense probably damaging 0.96
X0067:Car9 UTSW 4 43507198 missense probably benign 0.19
Posted On2014-05-07