Mutagenetix > Incidental Mutation

Incidental Mutation 'R1818:Car9'

204575

Institutional Source

Beutler Lab

Gene Symbol

Car9

Ensembl Gene

ENSMUSG00000028463

Gene Name

carbonic anhydrase 9

Synonyms

CAIX, MN/CA9

MMRRC Submission

039846-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1818 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43507026-43513729 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 43512439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030183] [ENSMUST00000030184] [ENSMUST00000107913] [ENSMUST00000107914]

AlphaFold

Q8VHB5

Predicted Effect

probably null
Transcript: ENSMUST00000030183

SMART Domains

Protein: ENSMUSP00000030183
Gene: ENSMUSG00000028463

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

probably null
Transcript: ENSMUST00000138073

SMART Domains

Protein: ENSMUSP00000114493
Gene: ENSMUSG00000028463

Domain	Start	End	E-Value	Type
Carb_anhydrase	35	237	6.18e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150262

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 97.3%
3x: 96.6%
10x: 94.5%
20x: 90.4%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,857 (GRCm39)		probably null	Het
Adam6b	T	A	12: 113,454,876 (GRCm39)	N564K	probably benign	Het
Ahi1	A	G	10: 20,864,461 (GRCm39)	Y731C	probably damaging	Het
Ankk1	A	G	9: 49,331,725 (GRCm39)	Y190H	probably benign	Het
Ankmy1	T	A	1: 92,814,553 (GRCm39)	D318V	probably benign	Het
Ankrd33b	G	A	15: 31,367,267 (GRCm39)	A91V	probably damaging	Het
Ap3b1	A	G	13: 94,608,212 (GRCm39)	N561S	possibly damaging	Het
Apob	A	G	12: 8,056,834 (GRCm39)	N1739S	probably damaging	Het
Apob	A	G	12: 8,063,064 (GRCm39)	T236A	possibly damaging	Het
Birc6	G	A	17: 74,956,844 (GRCm39)	A3593T	probably damaging	Het
Bnc2	A	G	4: 84,210,111 (GRCm39)	F778L	possibly damaging	Het
Capn2	T	A	1: 182,300,162 (GRCm39)	K609N	probably benign	Het
Card11	A	T	5: 140,871,315 (GRCm39)	D729E	probably benign	Het
Ccl20	A	G	1: 83,095,529 (GRCm39)	Y30C	probably damaging	Het
Cd209a	G	A	8: 3,795,576 (GRCm39)	T106I	probably damaging	Het
Cebpz	A	G	17: 79,242,805 (GRCm39)	L283P	probably damaging	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Clec4e	T	A	6: 123,262,452 (GRCm39)	D155V	possibly damaging	Het
Col25a1	G	A	3: 130,379,386 (GRCm39)		probably null	Het
Cyp2j11	A	T	4: 96,185,976 (GRCm39)	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,768,673 (GRCm39)	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Denr	T	A	5: 124,055,283 (GRCm39)	D49E	probably benign	Het
Dnaaf3	A	T	7: 4,526,568 (GRCm39)		probably null	Het
Dnaaf3	G	T	7: 4,526,569 (GRCm39)	L503M	probably benign	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dnai4	A	G	4: 102,929,854 (GRCm39)	V56A	possibly damaging	Het
Efcab3	T	A	11: 104,612,333 (GRCm39)	L652Q	probably benign	Het
Ehd4	C	T	2: 119,932,885 (GRCm39)	W180*	probably null	Het
Ephb2	A	G	4: 136,382,647 (GRCm39)	S984P	probably benign	Het
Eva1a	T	C	6: 82,048,125 (GRCm39)	M1T	probably null	Het
Fam90a1a	C	G	8: 22,453,787 (GRCm39)	P381A	possibly damaging	Het
Fam90a1a	C	A	8: 22,453,788 (GRCm39)	P381Q	probably damaging	Het
Flnc	T	C	6: 29,457,447 (GRCm39)	Y2382H	probably damaging	Het
Flrt1	A	T	19: 7,072,711 (GRCm39)	L612Q	probably damaging	Het
Fubp1	T	A	3: 151,927,806 (GRCm39)	N419K	probably damaging	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Gm4847	T	A	1: 166,465,788 (GRCm39)	H267L	probably damaging	Het
Golga4	T	G	9: 118,402,055 (GRCm39)	V91G	probably damaging	Het
Hip1r	T	C	5: 124,134,018 (GRCm39)		probably null	Het
Ice2	A	G	9: 69,339,383 (GRCm39)	S967G	probably benign	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Impdh2	T	G	9: 108,440,411 (GRCm39)		probably null	Het
Inmt	C	A	6: 55,150,404 (GRCm39)	V78F	possibly damaging	Het
Inpp5e	T	C	2: 26,287,886 (GRCm39)	S637G	probably benign	Het
Kansl1	T	C	11: 104,233,283 (GRCm39)	H748R	possibly damaging	Het
Kif28	T	C	1: 179,533,319 (GRCm39)	K541E	possibly damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Kifc2	T	C	15: 76,550,281 (GRCm39)	V480A	probably damaging	Het
Lrrc74a	T	C	12: 86,784,484 (GRCm39)	Y71H	probably damaging	Het
Ly75	T	G	2: 60,142,121 (GRCm39)	T1330P	probably damaging	Het
Macf1	A	G	4: 123,270,210 (GRCm39)	V6647A	probably damaging	Het
Mgat1	T	C	11: 49,152,111 (GRCm39)	I198T	possibly damaging	Het
Morc3	A	G	16: 93,652,398 (GRCm39)	Y367C	probably damaging	Het
Mtfr1	A	G	3: 19,269,837 (GRCm39)	T162A	probably damaging	Het
Myrip	C	T	9: 120,217,228 (GRCm39)	S49L	probably damaging	Het
Nup153	A	T	13: 46,835,113 (GRCm39)	N1397K	possibly damaging	Het
Or5h26	T	C	16: 58,988,243 (GRCm39)	K88E	probably benign	Het
Or6x1	T	C	9: 40,098,558 (GRCm39)	V49A	probably benign	Het
Or8b36	T	C	9: 37,937,803 (GRCm39)	S234P	probably damaging	Het
Or8g21	T	C	9: 38,905,902 (GRCm39)	I276M	possibly damaging	Het
Pabpc2	G	T	18: 39,907,163 (GRCm39)	V143L	probably damaging	Het
Pals2	T	G	6: 50,140,411 (GRCm39)	F144V	probably benign	Het
Panx3	T	C	9: 37,575,322 (GRCm39)	K180R	probably benign	Het
Patj	G	A	4: 98,511,885 (GRCm39)	V144M	possibly damaging	Het
Pde1c	T	A	6: 56,103,877 (GRCm39)	K651*	probably null	Het
Pde4c	A	G	8: 71,179,638 (GRCm39)	H63R	probably benign	Het
Pdha2	T	A	3: 140,916,960 (GRCm39)	K183*	probably null	Het
Pkd1l3	T	A	8: 110,375,038 (GRCm39)	C1504S	probably benign	Het
Plbd2	A	T	5: 120,625,574 (GRCm39)		probably null	Het
Poteg	G	A	8: 27,940,195 (GRCm39)	W121*	probably null	Het
Prf1	C	A	10: 61,138,762 (GRCm39)	T240N	probably damaging	Het
Ptprf	A	G	4: 118,067,068 (GRCm39)	Y1883H	probably damaging	Het
Puf60	T	C	15: 75,943,323 (GRCm39)	T322A	possibly damaging	Het
Rev3l	A	G	10: 39,704,420 (GRCm39)	I281M	probably benign	Het
Rufy1	T	C	11: 50,305,399 (GRCm39)	I305V	probably benign	Het
Shisa9	A	C	16: 12,085,426 (GRCm39)	Q329P	probably damaging	Het
Siglech	G	A	7: 55,418,332 (GRCm39)	R100Q	probably damaging	Het
Slc13a5	T	A	11: 72,144,169 (GRCm39)	Y303F	probably benign	Het
Snx6	C	T	12: 54,830,259 (GRCm39)	V67I	possibly damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Tecpr2	A	G	12: 110,892,888 (GRCm39)	Y310C	probably damaging	Het
Top1	T	A	2: 160,557,643 (GRCm39)	L575Q	probably damaging	Het
Usp16	C	T	16: 87,276,020 (GRCm39)	R452*	probably null	Het
Utrn	A	G	10: 12,585,708 (GRCm39)		probably null	Het
Vps13b	G	A	15: 35,877,723 (GRCm39)	G2899E	probably benign	Het
Wipi2	T	A	5: 142,643,963 (GRCm39)	L115Q	probably damaging	Het
Zbtb7c	A	C	18: 76,270,596 (GRCm39)	E228A	probably damaging	Het
Zfp26	T	C	9: 20,353,487 (GRCm39)	T101A	probably benign	Het
Zfp593	A	T	4: 133,972,394 (GRCm39)		probably null	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfp948	G	A	17: 21,805,069 (GRCm39)	V20M	probably damaging	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	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
R0497:Car9	UTSW	4	43,511,881 (GRCm39)	missense	probably damaging	1.00
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
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'- AACGATTGAGGCTTCCTTCC -3'
(R):5'- TCACAGGAGATTTCTGGAGCC -3'

Sequencing Primer
(F):5'- TTCCCTGCTGCAGAGGATAG -3'
(R):5'- GAGATTTCTGGAGCCTCATTCAGAC -3'

Posted On

2014-06-23