Mutagenetix > Incidental Mutation

Incidental Mutation 'R1573:Car9'

170943

Institutional Source

Beutler Lab

Gene Symbol

Car9

Ensembl Gene

ENSMUSG00000028463

Gene Name

carbonic anhydrase 9

Synonyms

CAIX, MN/CA9

MMRRC Submission

039612-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1573 (G1)

Quality Score

222

Status

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: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.1%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,004,445 (GRCm39)		probably benign	Het
Add1	C	G	5: 34,758,740 (GRCm39)	A18G	possibly damaging	Het
Alk	T	C	17: 72,910,113 (GRCm39)	K198E	possibly damaging	Het
Angptl1	T	A	1: 156,684,740 (GRCm39)	L303Q	possibly damaging	Het
Aox1	A	T	1: 58,348,186 (GRCm39)	I635L	probably benign	Het
Atp5mk	T	A	19: 47,074,634 (GRCm39)	Q9L	possibly damaging	Het
Atp8a2	G	T	14: 60,097,655 (GRCm39)	T791K	probably benign	Het
Auts2	T	C	5: 131,469,325 (GRCm39)	K664R	probably damaging	Het
Birc6	T	A	17: 74,967,685 (GRCm39)		probably benign	Het
Cacna1i	C	A	15: 80,277,869 (GRCm39)		probably null	Het
Cacna2d1	T	C	5: 16,575,625 (GRCm39)	F1077L	probably damaging	Het
Camkk1	C	T	11: 72,918,307 (GRCm39)	R52C	probably damaging	Het
Camkmt	T	A	17: 85,403,958 (GRCm39)	V60E	probably damaging	Het
Cbr2	A	T	11: 120,622,791 (GRCm39)	L3Q	possibly damaging	Het
Ccar1	A	T	10: 62,586,434 (GRCm39)	D920E	unknown	Het
Cdc20b	A	G	13: 113,192,478 (GRCm39)	N57S	probably benign	Het
Cep83	G	A	10: 94,624,525 (GRCm39)	E601K	probably damaging	Het
Cldn10	A	T	14: 119,111,080 (GRCm39)	I176L	probably benign	Het
Cpeb2	T	C	5: 43,441,273 (GRCm39)		probably benign	Het
Crb1	A	G	1: 139,265,344 (GRCm39)	S25P	probably damaging	Het
Cyp3a59	A	T	5: 146,039,684 (GRCm39)	Y319F	probably damaging	Het
Dst	C	T	1: 34,240,312 (GRCm39)	S1561F	probably damaging	Het
Dxo	C	T	17: 35,057,270 (GRCm39)	R221C	probably damaging	Het
Dynlt4	A	T	4: 116,985,191 (GRCm39)	T5S	probably benign	Het
Epc2	A	G	2: 49,439,984 (GRCm39)	T801A	possibly damaging	Het
Fndc3a	C	A	14: 72,806,384 (GRCm39)	C373F	probably damaging	Het
Frmpd1	T	C	4: 45,283,932 (GRCm39)	S918P	probably benign	Het
Fuca2	A	G	10: 13,381,587 (GRCm39)	T84A	possibly damaging	Het
Garin4	G	A	1: 190,896,682 (GRCm39)		probably benign	Het
Gmeb1	A	T	4: 131,979,051 (GRCm39)	N21K	probably benign	Het
Htt	T	C	5: 35,021,718 (GRCm39)		probably benign	Het
Igsf1	T	C	X: 48,880,863 (GRCm39)	R251G	possibly damaging	Het
Itih4	A	T	14: 30,619,504 (GRCm39)	H720L	probably benign	Het
Kank4	A	T	4: 98,663,073 (GRCm39)	L705*	probably null	Het
Krt34	A	T	11: 99,931,854 (GRCm39)	S122T	probably benign	Het
L1td1	A	G	4: 98,625,517 (GRCm39)	T571A	probably benign	Het
Lag3	T	C	6: 124,886,210 (GRCm39)	T248A	possibly damaging	Het
Lgi1	T	A	19: 38,272,629 (GRCm39)	H133Q	probably benign	Het
Map1a	A	T	2: 121,134,607 (GRCm39)	T1808S	probably benign	Het
Mcm9	T	C	10: 53,424,752 (GRCm39)	T613A	probably damaging	Het
Meaf6	A	G	4: 124,983,931 (GRCm39)	I111V	probably benign	Het
Mki67	G	A	7: 135,296,845 (GRCm39)	P2730S	possibly damaging	Het
Mlc1	A	C	15: 88,842,350 (GRCm39)	C337G	probably damaging	Het
Mrc2	T	A	11: 105,227,482 (GRCm39)	Y572N	probably damaging	Het
Mterf3	T	C	13: 67,070,967 (GRCm39)	N172S	possibly damaging	Het
Or3a1c	T	A	11: 74,046,196 (GRCm39)	M72K	probably benign	Het
Or4b1	A	T	2: 89,979,068 (GRCm39)		probably benign	Het
Or4c115	T	A	2: 88,928,064 (GRCm39)	D69V	probably damaging	Het
Or5ak4	A	T	2: 85,161,687 (GRCm39)	L185H	probably damaging	Het
Or6c6c	T	C	10: 129,541,487 (GRCm39)	S247P	probably damaging	Het
Padi4	T	G	4: 140,484,881 (GRCm39)	T327P	possibly damaging	Het
Pga5	T	A	19: 10,651,201 (GRCm39)	I151F	probably benign	Het
Pkdrej	G	T	15: 85,702,275 (GRCm39)	D1220E	probably benign	Het
Prokr2	T	A	2: 132,215,684 (GRCm39)	Q259L	probably damaging	Het
Ptbp2	C	A	3: 119,546,754 (GRCm39)	D43Y	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgps2	C	T	1: 156,660,500 (GRCm39)	R237Q	possibly damaging	Het
Rap1gds1	C	A	3: 138,671,624 (GRCm39)		probably null	Het
Saa2	T	A	7: 46,401,716 (GRCm39)	M1K	probably null	Het
Samd9l	T	C	6: 3,375,426 (GRCm39)	I612V	probably damaging	Het
Scn10a	C	T	9: 119,442,692 (GRCm39)	V1518I	probably benign	Het
Serpina6	T	C	12: 103,618,012 (GRCm39)	D267G	probably damaging	Het
Sh2d4b	A	G	14: 40,564,329 (GRCm39)		probably null	Het
Sh3bp2	T	C	5: 34,718,034 (GRCm39)	V505A	probably benign	Het
Smad2	A	G	18: 76,395,657 (GRCm39)	E32G	possibly damaging	Het
Smn1	T	G	13: 100,263,118 (GRCm39)	D32E	probably damaging	Het
Spata31d1c	T	C	13: 65,182,883 (GRCm39)	S142P	possibly damaging	Het
Stk39	A	T	2: 68,221,293 (GRCm39)	I210N	probably damaging	Het
Tcte2	A	G	17: 13,937,899 (GRCm39)		probably benign	Het
Tctn3	C	A	19: 40,597,361 (GRCm39)	E230*	probably null	Het
Tenm2	A	T	11: 35,937,896 (GRCm39)	H1592Q	probably damaging	Het
Tescl	A	G	7: 24,032,668 (GRCm39)	V219A	probably damaging	Het
Tgm6	C	T	2: 129,993,660 (GRCm39)	S633L	probably benign	Het
Tmcc1	C	T	6: 116,110,924 (GRCm39)	S123N	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ulk2	G	A	11: 61,670,581 (GRCm39)	R992C	probably damaging	Het
Vwa5b1	G	A	4: 138,332,184 (GRCm39)	H278Y	probably damaging	Het
Wwp2	C	T	8: 108,275,121 (GRCm39)	R373W	probably damaging	Het
Zfp24	A	T	18: 24,150,399 (GRCm39)	D170E	possibly damaging	Het
Zfp808	T	C	13: 62,319,311 (GRCm39)	I180T	possibly damaging	Het
Zfp820	T	A	17: 22,037,737 (GRCm39)	Q530H	probably benign	Het
Zfp975	A	T	7: 42,311,507 (GRCm39)	Y369N	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
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'- TCGTGATTCTCGGCTACAACTGAAC -3'
(R):5'- CTTCCAGCAGCTAGGTGAAAGGTG -3'

Sequencing Primer
(F):5'- ACCCTTGAATGGGCGAAC -3'
(R):5'- AGATTTCTGGAGCCTCATTCAGAC -3'

Posted On

2014-04-13