Mutagenetix > Incidental Mutation

Incidental Mutation 'R1470:Car9'

165779

Institutional Source

Beutler Lab

Gene Symbol

Car9

Ensembl Gene

ENSMUSG00000028463

Gene Name

carbonic anhydrase 9

Synonyms

CAIX, MN/CA9

MMRRC Submission

039523-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1470 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43507026-43513729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43510222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 268 (Y268C)

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: Y268C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030183
Gene: ENSMUSG00000028463
AA Change: Y268C

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

unknown
Transcript: ENSMUST00000138073
AA Change: Y182C

SMART Domains

Protein: ENSMUSP00000114493
Gene: ENSMUSG00000028463
AA Change: Y182C

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: ENSMUST00000129996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150262

Meta Mutation Damage Score

0.9166

Coding Region Coverage

1x: 99.7%
3x: 98.4%
10x: 90.6%
20x: 68.6%

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,944,337 (GRCm39)	S749T	unknown	Het
Abcb4	A	T	5: 8,990,968 (GRCm39)	I843F	probably damaging	Het
Actr8	T	A	14: 29,708,926 (GRCm39)	H244Q	possibly damaging	Het
Adgrv1	A	G	13: 81,530,417 (GRCm39)	Y5886H	probably benign	Het
Agk	T	A	6: 40,363,751 (GRCm39)	W244R	probably damaging	Het
Ankrd11	C	A	8: 123,626,463 (GRCm39)	V161L	probably damaging	Het
Arap3	T	C	18: 38,122,249 (GRCm39)		probably null	Het
Armc3	A	G	2: 19,243,547 (GRCm39)	M88V	probably benign	Het
Atp13a5	G	T	16: 29,167,833 (GRCm39)	P109T	probably benign	Het
Avpr1b	T	A	1: 131,528,323 (GRCm39)	V282D	probably damaging	Het
Baz2b	T	C	2: 59,808,890 (GRCm39)	K120E	possibly damaging	Het
Bltp1	T	C	3: 37,052,480 (GRCm39)	M3060T	probably benign	Het
Cacng6	G	A	7: 3,473,404 (GRCm39)	C76Y	probably damaging	Het
Cactin	G	T	10: 81,158,985 (GRCm39)	E279*	probably null	Het
Ccdc146	T	A	5: 21,524,564 (GRCm39)	I263F	probably damaging	Het
Cdh16	T	G	8: 105,345,003 (GRCm39)	S429R	probably benign	Het
Cep250	A	G	2: 155,832,995 (GRCm39)	E1639G	probably damaging	Het
Ces1d	A	T	8: 93,921,649 (GRCm39)	V38D	possibly damaging	Het
Chd1	A	T	17: 15,946,545 (GRCm39)	Q97L	possibly damaging	Het
Ciita	G	A	16: 10,332,332 (GRCm39)	D898N	possibly damaging	Het
Clstn1	A	G	4: 149,719,179 (GRCm39)	N336S	possibly damaging	Het
Cntnap5a	A	G	1: 116,187,249 (GRCm39)	D607G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col20a1	C	T	2: 180,636,753 (GRCm39)	H245Y	probably benign	Het
Coq8b	A	T	7: 26,951,734 (GRCm39)	T399S	probably benign	Het
Cpn2	A	G	16: 30,079,003 (GRCm39)	S233P	probably benign	Het
Cryz	G	A	3: 154,312,113 (GRCm39)	G70D	probably damaging	Het
Def6	T	A	17: 28,444,956 (GRCm39)	D451E	possibly damaging	Het
Dnah8	T	A	17: 30,966,251 (GRCm39)	C2480*	probably null	Het
Dnah9	T	C	11: 65,818,648 (GRCm39)	N3230S	probably benign	Het
Dyrk4	G	T	6: 126,893,337 (GRCm39)	S15*	probably null	Het
Erc1	T	C	6: 119,671,563 (GRCm39)	R917G	probably damaging	Het
Frem3	G	T	8: 81,337,820 (GRCm39)	V38L	probably benign	Het
Gas2l3	T	C	10: 89,249,796 (GRCm39)	I441V	probably benign	Het
Gm14393	T	A	2: 174,905,774 (GRCm39)	Y6F	probably damaging	Het
Gm1527	A	G	3: 28,969,417 (GRCm39)	K256E	possibly damaging	Het
Gm21905	G	T	5: 68,103,740 (GRCm39)		probably benign	Het
Gtf2ird1	T	A	5: 134,424,656 (GRCm39)		probably null	Het
Hmces	C	A	6: 87,913,121 (GRCm39)	T292K	probably benign	Het
Hpse2	G	A	19: 43,376,692 (GRCm39)	S20L	probably benign	Het
Ift70b	G	T	2: 75,768,155 (GRCm39)	S199R	probably benign	Het
Ikbke	A	T	1: 131,204,224 (GRCm39)	V23E	probably null	Het
Ino80	A	T	2: 119,210,130 (GRCm39)	V1387E	probably damaging	Het
Islr	G	T	9: 58,064,589 (GRCm39)	A306D	probably damaging	Het
Jakmip1	G	A	5: 37,258,182 (GRCm39)	G276D	probably damaging	Het
Jchain	A	G	5: 88,673,979 (GRCm39)	V55A	probably benign	Het
Kalrn	T	C	16: 34,007,841 (GRCm39)	K1350E	probably damaging	Het
Kansl1l	T	C	1: 66,841,156 (GRCm39)	Q48R	possibly damaging	Het
Kmt5a	T	C	5: 124,585,334 (GRCm39)	L23P	probably damaging	Het
Lrba	C	T	3: 86,644,449 (GRCm39)	H381Y	probably damaging	Het
Lrrc32	T	C	7: 98,148,564 (GRCm39)	V448A	probably benign	Het
Mapkbp1	T	C	2: 119,848,301 (GRCm39)	M617T	probably damaging	Het
Mfap1a	T	C	2: 121,333,282 (GRCm39)	M50V	probably benign	Het
Mgam	G	T	6: 40,736,062 (GRCm39)	A854S	probably damaging	Het
Myo18b	C	A	5: 112,840,899 (GRCm39)	R2298L	probably damaging	Het
Myo1h	T	A	5: 114,457,765 (GRCm39)	M92K	probably damaging	Het
Nlrp2	T	A	7: 5,303,950 (GRCm39)	T192S	probably benign	Het
Nr2f1	A	T	13: 78,346,284 (GRCm39)	Y137N	possibly damaging	Het
Nup98	T	A	7: 101,796,513 (GRCm39)	D841V	probably damaging	Het
Nvl	A	G	1: 180,966,827 (GRCm39)	V59A	probably damaging	Het
Ogdhl	C	A	14: 32,068,745 (GRCm39)	N948K	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or12j3	A	G	7: 139,953,026 (GRCm39)	S166P	probably benign	Het
Or13a24	A	G	7: 140,154,662 (GRCm39)	T199A	probably benign	Het
Or51g1	A	C	7: 102,633,530 (GRCm39)	Y280*	probably null	Het
Osgin1	G	A	8: 120,171,704 (GRCm39)	R166H	probably damaging	Het
Palb2	A	T	7: 121,706,746 (GRCm39)	F741I	probably benign	Het
Palb2	G	T	7: 121,706,747 (GRCm39)	Y740*	probably null	Het
Parvb	G	A	15: 84,155,509 (GRCm39)	D65N	probably benign	Het
Parvb	G	A	15: 84,155,453 (GRCm39)	G46D	probably damaging	Het
Pcsk2	A	T	2: 143,388,438 (GRCm39)	K10*	probably null	Het
Pde3a	C	T	6: 141,411,932 (GRCm39)	A502V	probably benign	Het
Pfas	T	C	11: 68,882,185 (GRCm39)	I893V	probably benign	Het
Pla2g4a	A	T	1: 149,716,471 (GRCm39)	D663E	probably damaging	Het
Prickle2	G	A	6: 92,435,583 (GRCm39)	P6L	probably damaging	Het
Prx	T	A	7: 27,217,026 (GRCm39)	M648K	probably benign	Het
Ptpn21	T	C	12: 98,654,735 (GRCm39)	N744S	probably benign	Het
Ptprq	C	T	10: 107,554,435 (GRCm39)	V97M	probably damaging	Het
Pvr	T	C	7: 19,652,549 (GRCm39)	E122G	possibly damaging	Het
Racgap1	T	C	15: 99,537,656 (GRCm39)	K15E	probably damaging	Het
Rock1	C	T	18: 10,136,091 (GRCm39)		probably null	Het
Rorc	T	A	3: 94,304,609 (GRCm39)	Y331*	probably null	Het
Rpl37	T	C	15: 5,148,096 (GRCm39)	V91A	probably benign	Het
Rrp36	T	A	17: 46,983,306 (GRCm39)	K103*	probably null	Het
Ryr3	T	A	2: 112,483,352 (GRCm39)	M4142L	probably benign	Het
Sash1	A	T	10: 8,665,357 (GRCm39)	L125H	probably damaging	Het
Scn5a	T	C	9: 119,365,541 (GRCm39)	M369V	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sfi1	C	CT	11: 3,096,255 (GRCm39)		probably null	Het
Siglec1	A	T	2: 130,912,307 (GRCm39)	N1678K	probably benign	Het
Slc15a5	A	T	6: 138,049,992 (GRCm39)	V141E	probably benign	Het
Slc8a3	A	T	12: 81,246,484 (GRCm39)	H856Q	probably benign	Het
Sptlc2	T	A	12: 87,402,414 (GRCm39)	M171L	probably benign	Het
Srcap	T	A	7: 127,158,899 (GRCm39)		probably benign	Het
St6gal2	A	G	17: 55,797,944 (GRCm39)	D310G	probably damaging	Het
Susd2	T	A	10: 75,473,888 (GRCm39)	D689V	probably damaging	Het
Suz12	A	T	11: 79,910,558 (GRCm39)	E303V	possibly damaging	Het
Taldo1	C	A	7: 140,978,500 (GRCm39)	T150K	probably damaging	Het
Tg	T	A	15: 66,721,312 (GRCm39)	F274I	possibly damaging	Het
Tmem151b	T	C	17: 45,856,663 (GRCm39)	D259G	probably damaging	Het
Tmem179	G	T	12: 112,468,288 (GRCm39)	H64Q	probably benign	Het
Tmem236	A	G	2: 14,223,732 (GRCm39)	T174A	probably benign	Het
Tnc	A	T	4: 63,884,811 (GRCm39)	N1821K	probably damaging	Het
Tnfrsf11a	A	G	1: 105,752,773 (GRCm39)	N261S	probably damaging	Het
Trank1	C	A	9: 111,172,300 (GRCm39)	F96L	possibly damaging	Het
Trim56	T	A	5: 137,142,017 (GRCm39)	I500F	probably damaging	Het
Ttll5	A	G	12: 85,926,168 (GRCm39)	I321V	possibly damaging	Het
Ttn	C	A	2: 76,608,367 (GRCm39)	W17852L	probably damaging	Het
Twnk	G	A	19: 44,997,820 (GRCm39)	V450M	probably damaging	Het
Uba52	A	G	8: 70,962,206 (GRCm39)	I127T	possibly damaging	Het
Ubr4	T	A	4: 139,148,537 (GRCm39)		probably null	Het
Uggt1	A	T	1: 36,215,877 (GRCm39)	M130K	probably benign	Het
Ulk4	T	A	9: 120,910,722 (GRCm39)	T1101S	probably benign	Het
Urb1	A	G	16: 90,548,902 (GRCm39)	S2269P	probably benign	Het
Ush2a	G	T	1: 188,132,403 (GRCm39)	R875L	probably benign	Het
Usp9y	T	A	Y: 1,332,471 (GRCm39)	H1624L	probably benign	Het
Vipr1	T	C	9: 121,494,586 (GRCm39)	L308S	possibly damaging	Het
Xdh	T	G	17: 74,198,107 (GRCm39)	K1260T	probably damaging	Het
Yipf4	A	G	17: 74,800,963 (GRCm39)	I94V	probably benign	Het
Zfhx4	A	G	3: 5,478,206 (GRCm39)	*3582W	probably null	Het
Zfp58	T	C	13: 67,640,144 (GRCm39)	N116D	possibly damaging	Het
Zfp750	C	A	11: 121,402,819 (GRCm39)	R643L	probably benign	Het
Znfx1	A	G	2: 166,884,507 (GRCm39)	V51A	possibly damaging	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
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'- CCAGTGTGACATTCACAGCACAAAG -3'
(R):5'- TGTGGACAGTAGTTTCCCTATCCCC -3'

Sequencing Primer
(F):5'- Cgagagagagagagagagagagag -3'
(R):5'- ATCCCCTGTGTTTCTCATCAGTTTAG -3'

Posted On

2014-03-28