Mutagenetix > Incidental Mutation

Incidental Mutation 'R7775:Car4'

598843

Institutional Source

Beutler Lab

Gene Symbol

Car4

Ensembl Gene

ENSMUSG00000000805

Gene Name

carbonic anhydrase 4

Synonyms

CA IV

MMRRC Submission

045831-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R7775 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84848612-84856870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84856449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 246 (S246P)

Ref Sequence

ENSEMBL: ENSMUSP00000099483 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103194] [ENSMUST00000127827] [ENSMUST00000150596]

AlphaFold

Q64444

PDB Structure

MURINE CARBONIC ANHYDRASE IV [X-RAY DIFFRACTION]
MURINE CARBONIC ANHYDRASE IV COMPLEXED WITH BRINZOLAMIDE [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000103194
AA Change: S246P

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

SMART Domains

Protein: ENSMUSP00000099483
Gene: ENSMUSG00000000805
AA Change: S246P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Carb_anhydrase	22	278	2.37e-103	SMART
low complexity region	283	299	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000103711
Gene: ENSMUSG00000000805
AA Change: S104P

Domain	Start	End	E-Value	Type
Carb_anhydrase	3	137	9.49e-7	SMART
low complexity region	142	158	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127827

Predicted Effect

probably benign
Transcript: ENSMUST00000150596

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

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. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are produced in lower than expected numbers, with females preferentially lost in the fetal or early postnatal period. Surviving homozygotes are healthy and fertile when crossed with wild-type partners; however, homozygous intercrosses yield small litters and pups do not survive. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	T	C	7: 16,296,573 (GRCm39)	K831E	probably benign	Het
Arpc1a	C	T	5: 145,041,622 (GRCm39)	R302C	probably benign	Het
Asb5	A	C	8: 55,037,827 (GRCm39)	H173P		Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Capn7	A	G	14: 31,074,367 (GRCm39)	T257A	probably benign	Het
Chrm5	A	G	2: 112,310,301 (GRCm39)	S272P	probably benign	Het
Chrna6	T	C	8: 27,897,392 (GRCm39)	I162V	probably damaging	Het
Chst12	T	A	5: 140,509,376 (GRCm39)	M1K	probably null	Het
Cldn6	T	A	17: 23,900,581 (GRCm39)	C182S	probably damaging	Het
Coro6	T	G	11: 77,356,599 (GRCm39)	D102E	probably benign	Het
Cysltr2	A	G	14: 73,267,203 (GRCm39)	I169T	probably benign	Het
Dtx4	G	T	19: 12,469,374 (GRCm39)	P251Q	probably benign	Het
Dyrk3	C	T	1: 131,057,364 (GRCm39)	V270I	possibly damaging	Het
Efhc1	A	T	1: 21,049,685 (GRCm39)	Y515F	probably damaging	Het
Ep300	T	C	15: 81,470,887 (GRCm39)	S20P	unknown	Het
Fmnl2	C	T	2: 52,963,692 (GRCm39)	L275F	unknown	Het
Fstl4	C	T	11: 53,067,798 (GRCm39)	Q554*	probably null	Het
Gal3st2b	G	T	1: 93,868,506 (GRCm39)	D246Y	probably damaging	Het
Gkap1	A	T	13: 58,398,966 (GRCm39)	D188E	probably benign	Het
Gm14226	T	A	2: 154,866,630 (GRCm39)	C196S	possibly damaging	Het
Gm8297	A	G	14: 16,167,939 (GRCm39)	N193S	possibly damaging	Het
Grm8	T	C	6: 27,363,671 (GRCm39)	R615G	possibly damaging	Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Kansl3	A	T	1: 36,387,758 (GRCm39)	L530H	probably damaging	Het
Kcna5	A	T	6: 126,511,768 (GRCm39)	L120*	probably null	Het
Kif26b	T	A	1: 178,692,441 (GRCm39)	S461T	probably benign	Het
L3mbtl3	A	T	10: 26,228,215 (GRCm39)	V15E	unknown	Het
Lama4	A	T	10: 38,954,843 (GRCm39)	H1132L	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Ldlrad4	T	C	18: 68,368,827 (GRCm39)	S95P	probably damaging	Het
Liph	G	T	16: 21,777,664 (GRCm39)	L379I	probably damaging	Het
Lrp2	T	A	2: 69,331,883 (GRCm39)	E1624V	possibly damaging	Het
Matn2	A	T	15: 34,399,223 (GRCm39)	H370L	possibly damaging	Het
Mettl23	T	G	11: 116,740,096 (GRCm39)	V189G	probably benign	Het
Mpp4	G	A	1: 59,162,672 (GRCm39)	T543M	not run	Het
Mrps15	A	T	4: 125,945,170 (GRCm39)	N119I	probably damaging	Het
Or10d4	C	A	9: 39,580,534 (GRCm39)	F60L	possibly damaging	Het
Or5ac21	A	T	16: 59,123,614 (GRCm39)	I33F	probably damaging	Het
Or7d9	A	G	9: 20,193,708 (GRCm39)		probably benign	Het
Or8b36	T	A	9: 37,937,963 (GRCm39)	I287N	probably damaging	Het
Or8g21	T	A	9: 38,906,203 (GRCm39)	H176L	probably damaging	Het
Pax8	A	G	2: 24,325,913 (GRCm39)	S324P	possibly damaging	Het
Pcdha11	A	T	18: 37,145,733 (GRCm39)	Y608F	possibly damaging	Het
Pcdhga5	A	G	18: 37,828,578 (GRCm39)	D342G	probably damaging	Het
Pde6d	A	G	1: 86,471,250 (GRCm39)	S143P	probably damaging	Het
Plau	A	G	14: 20,892,393 (GRCm39)	S393G	probably benign	Het
Plec	A	T	15: 76,061,135 (GRCm39)	I2934N	probably damaging	Het
Primpol	G	T	8: 47,039,459 (GRCm39)	P387Q	probably damaging	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Prrt4	A	G	6: 29,177,718 (GRCm39)	L17P	probably damaging	Het
Pycr3	T	C	15: 75,790,138 (GRCm39)	D171G	probably damaging	Het
Rapgefl1	A	G	11: 98,741,980 (GRCm39)	N648S	probably damaging	Het
Rapsn	A	G	2: 90,875,293 (GRCm39)	T359A	probably benign	Het
Sap25	C	T	5: 137,640,186 (GRCm39)	R66W	probably benign	Het
Setd6	A	T	8: 96,442,866 (GRCm39)	H101L	probably benign	Het
Slc22a3	G	T	17: 12,683,350 (GRCm39)	A171E	probably damaging	Het
Tbc1d2	C	T	4: 46,637,746 (GRCm39)		probably null	Het
Tfap2b	G	A	1: 19,304,531 (GRCm39)	G447D	probably damaging	Het
Txndc2	A	G	17: 65,945,238 (GRCm39)	V313A	probably benign	Het
Uevld	A	T	7: 46,576,100 (GRCm39)	I462N	probably damaging	Het
Vmn2r120	T	C	17: 57,832,942 (GRCm39)	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,275,587 (GRCm39)	V790A	probably benign	Het
Zfp936	A	G	7: 42,839,720 (GRCm39)	T396A	possibly damaging	Het

Other mutations in Car4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Car4	APN	11	84,856,593 (GRCm39)	missense	probably damaging	1.00
IGL01121:Car4	APN	11	84,855,172 (GRCm39)	critical splice acceptor site	probably null
IGL01828:Car4	APN	11	84,855,571 (GRCm39)	missense	probably benign	0.19
IGL02340:Car4	APN	11	84,856,593 (GRCm39)	missense	probably damaging	1.00
IGL02351:Car4	APN	11	84,856,593 (GRCm39)	missense	probably damaging	1.00
IGL02353:Car4	APN	11	84,856,593 (GRCm39)	missense	probably damaging	1.00
IGL02358:Car4	APN	11	84,856,593 (GRCm39)	missense	probably damaging	1.00
IGL02360:Car4	APN	11	84,856,593 (GRCm39)	missense	probably damaging	1.00
PIT4802001:Car4	UTSW	11	84,855,231 (GRCm39)	missense	probably damaging	1.00
R0008:Car4	UTSW	11	84,854,237 (GRCm39)	unclassified	probably benign
R0501:Car4	UTSW	11	84,854,268 (GRCm39)	missense	probably benign	0.01
R2124:Car4	UTSW	11	84,854,911 (GRCm39)	splice site	probably benign
R3907:Car4	UTSW	11	84,855,183 (GRCm39)	missense	probably damaging	1.00
R5072:Car4	UTSW	11	84,854,193 (GRCm39)	missense	probably benign
R5268:Car4	UTSW	11	84,856,626 (GRCm39)	missense	probably benign	0.28
R5562:Car4	UTSW	11	84,854,924 (GRCm39)	missense	probably benign	0.05
R6508:Car4	UTSW	11	84,856,469 (GRCm39)	missense	possibly damaging	0.64
R8698:Car4	UTSW	11	84,855,009 (GRCm39)	missense	probably benign	0.20
R8956:Car4	UTSW	11	84,855,377 (GRCm39)	missense	probably null	1.00
R9334:Car4	UTSW	11	84,855,415 (GRCm39)	missense	probably benign	0.01
Z1177:Car4	UTSW	11	84,854,245 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CAGAGGACCAAACTCCCTTG -3'
(R):5'- TGGAGGAAGTTGGCTACCAG -3'

Sequencing Primer
(F):5'- CTATCGAATCAGATATCCTGGGGC -3'
(R):5'- CCAGGCAGGTGAGTGTG -3'

Posted On

2019-11-26