Mutagenetix > Incidental Mutation

Incidental Mutation 'R4719:Car9'

354288

Institutional Source

Beutler Lab

Gene Symbol

Car9

Ensembl Gene

ENSMUSG00000028463

Gene Name

carbonic anhydrase 9

Synonyms

CAIX, MN/CA9

MMRRC Submission

041957-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43507026-43513729 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 43508616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 42 (W42*)

Gene Model

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

AlphaFold

Q8VHB5

Predicted Effect

probably null
Transcript: ENSMUST00000030183
AA Change: W128*

SMART Domains

Protein: ENSMUSP00000030183
Gene: ENSMUSG00000028463
AA Change: W128*

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

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
AA Change: W42*

SMART Domains

Protein: ENSMUSP00000114493
Gene: ENSMUSG00000028463
AA Change: W42*

Domain	Start	End	E-Value	Type
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: ENSMUST00000154251

Meta Mutation Damage Score

0.9700

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (76/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,089,971 (GRCm39)	Y971C	probably damaging	Het
Actr5	T	A	2: 158,468,433 (GRCm39)	S188T	probably damaging	Het
Adamtsl4	A	G	3: 95,586,896 (GRCm39)		probably null	Het
Agbl2	A	G	2: 90,645,733 (GRCm39)	N822S	probably benign	Het
Ankdd1b	T	A	13: 96,554,255 (GRCm39)		probably benign	Het
Arhgef40	C	T	14: 52,242,395 (GRCm39)		probably benign	Het
Art5	A	G	7: 101,747,701 (GRCm39)		probably null	Het
Atpsckmt	T	G	15: 31,608,243 (GRCm39)	V98G	probably damaging	Het
Cacna1s	T	C	1: 136,046,390 (GRCm39)		probably benign	Het
Cdh20	T	C	1: 104,862,035 (GRCm39)	Y72H	probably damaging	Het
Ces1g	T	C	8: 94,043,718 (GRCm39)	D407G	possibly damaging	Het
Cngb3	T	A	4: 19,309,562 (GRCm39)	D73E	probably benign	Het
Col6a4	A	T	9: 105,945,451 (GRCm39)	F888I	probably damaging	Het
Dgat2	T	C	7: 98,807,504 (GRCm39)	D222G	probably benign	Het
Dscaml1	T	C	9: 45,583,993 (GRCm39)	M486T	probably benign	Het
Faim2	C	T	15: 99,425,460 (GRCm39)		probably null	Het
Fance	T	C	17: 28,537,293 (GRCm39)		probably benign	Het
Fancm	G	T	12: 65,168,480 (GRCm39)	M1614I	possibly damaging	Het
Fcrl5	A	T	3: 87,351,496 (GRCm39)	N248I	probably damaging	Het
Foxo3	G	A	10: 42,073,774 (GRCm39)	R29W	probably damaging	Het
Gabbr2	A	G	4: 46,718,797 (GRCm39)	Y74H	probably damaging	Het
Gatd1	A	C	7: 140,990,981 (GRCm39)	D55E	probably benign	Het
Gpr152	C	A	19: 4,193,223 (GRCm39)	Q255K	possibly damaging	Het
Havcr1	A	G	11: 46,643,268 (GRCm39)	T63A	probably benign	Het
Hltf	T	C	3: 20,118,865 (GRCm39)		probably null	Het
Ifit3b	A	T	19: 34,590,030 (GRCm39)	Q402L	probably damaging	Het
Ints3	A	G	3: 90,322,828 (GRCm39)	L134S	probably benign	Het
Kcna10	A	G	3: 107,102,217 (GRCm39)	T283A	probably benign	Het
Kmt2e	A	C	5: 23,697,313 (GRCm39)	R590S	probably damaging	Het
Lefty1	A	T	1: 180,765,277 (GRCm39)	N282Y	probably benign	Het
Loxl4	T	A	19: 42,596,030 (GRCm39)	Y141F	probably benign	Het
Lrrn2	T	C	1: 132,866,915 (GRCm39)	V660A	probably benign	Het
Lyst	T	C	13: 13,824,935 (GRCm39)	S1517P	probably benign	Het
Mcoln2	A	G	3: 145,881,468 (GRCm39)	H208R	probably benign	Het
Mdga2	C	T	12: 66,517,775 (GRCm39)		probably benign	Het
Mpp2	T	A	11: 101,955,259 (GRCm39)	E122V	possibly damaging	Het
Mrgprb5	T	C	7: 47,818,526 (GRCm39)	N70D	probably damaging	Het
Muc5ac	A	T	7: 141,343,500 (GRCm39)	E37D	possibly damaging	Het
Nbeal1	T	A	1: 60,274,722 (GRCm39)		probably null	Het
Ncoa6	T	C	2: 155,233,081 (GRCm39)		probably benign	Het
Nfib	C	A	4: 82,422,967 (GRCm39)		probably null	Het
Nostrin	G	T	2: 68,975,156 (GRCm39)	G24*	probably null	Het
Nudc	A	G	4: 133,260,576 (GRCm39)	Y293H	probably damaging	Het
Or51a42	T	A	7: 103,707,940 (GRCm39)	N290Y	probably damaging	Het
Pcmtd1	T	A	1: 7,225,325 (GRCm39)	Y41*	probably null	Het
Pigt	T	C	2: 164,343,544 (GRCm39)	L340P	probably damaging	Het
Pomgnt1	T	C	4: 116,012,972 (GRCm39)	Y420H	probably damaging	Het
Pramel6	C	T	2: 87,341,096 (GRCm39)	T476I	probably benign	Het
Ptprn2	T	A	12: 116,788,016 (GRCm39)	H118Q	possibly damaging	Het
Rasl10a	G	A	11: 5,008,517 (GRCm39)	S71N	probably benign	Het
Rnf213	A	G	11: 119,310,893 (GRCm39)	I804V	probably benign	Het
Rps4l-ps	T	C	7: 114,526,537 (GRCm39)		noncoding transcript	Het
Sash1	T	A	10: 8,605,477 (GRCm39)	H971L	probably benign	Het
Secisbp2	T	A	13: 51,806,768 (GRCm39)	F54L	possibly damaging	Het
Senp1	A	T	15: 97,954,731 (GRCm39)	H484Q	probably benign	Het
Slc12a1	T	C	2: 124,995,913 (GRCm39)	I22T	possibly damaging	Het
Slc25a36	A	G	9: 96,972,172 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,140,731 (GRCm39)	S1443T	probably benign	Het
Sv2c	T	C	13: 96,123,319 (GRCm39)	T385A	probably benign	Het
Tas2r131	T	A	6: 132,933,936 (GRCm39)	H291L	probably damaging	Het
Thbs3	A	G	3: 89,124,147 (GRCm39)	D80G	probably damaging	Het
Tnxb	C	T	17: 34,908,394 (GRCm39)	S1349L	probably damaging	Het
Toporsl	A	G	4: 52,611,996 (GRCm39)	R630G	probably benign	Het
Vmn1r43	C	A	6: 89,846,837 (GRCm39)	M216I	probably benign	Het
Wdr17	T	A	8: 55,092,911 (GRCm39)	E1068D	probably benign	Het
Wnt10a	G	A	1: 74,842,762 (GRCm39)	V413I	probably damaging	Het
Zfp141	T	C	7: 42,126,111 (GRCm39)		probably null	Het
Zfp169	T	C	13: 48,643,634 (GRCm39)	I498V	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
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
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
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'- ACCCAGGTCCTACTCTATGG -3'
(R):5'- CCAGCAGAACTCCTAAGTGC -3'

Sequencing Primer
(F):5'- AGGTCCTACTCTATGGCCCCC -3'
(R):5'- AAGTGCACAGCTTGATTGCC -3'

Posted On

2015-10-21