Mutagenetix > Incidental Mutations

Incidental Mutation 'R4993:Slc4a2'

384993

Institutional Source

Beutler Lab

Gene Symbol

Slc4a2

Ensembl Gene

ENSMUSG00000028962

Gene Name

solute carrier family 4 (anion exchanger), member 2

Synonyms

B3RP, Ae2

MMRRC Submission

042587-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.533) question?

Stock #

R4993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24423837-24440950 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24434869 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 521 (F521S)

Ref Sequence

ENSEMBL: ENSMUSP00000110701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080067] [ENSMUST00000115043] [ENSMUST00000115047] [ENSMUST00000115049] [ENSMUST00000141966]

Predicted Effect

probably damaging
Transcript: ENSMUST00000080067
AA Change: F530S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078972
Gene: ENSMUSG00000028962
AA Change: F530S

Domain	Start	End	E-Value	Type
low complexity region	93	110	N/A	INTRINSIC
low complexity region	112	135	N/A	INTRINSIC
low complexity region	138	151	N/A	INTRINSIC
low complexity region	169	178	N/A	INTRINSIC
low complexity region	200	216	N/A	INTRINSIC
low complexity region	296	313	N/A	INTRINSIC
Pfam:Band_3_cyto	348	616	4.7e-111	PFAM
Pfam:HCO3_cotransp	671	1165	1.7e-217	PFAM
transmembrane domain	1183	1200	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115043

SMART Domains

Protein: ENSMUSP00000110695
Gene: ENSMUSG00000028959

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
low complexity region	180	194	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
Pfam:FAST_1	273	341	7.6e-24	PFAM
Pfam:FAST_2	349	440	6.9e-26	PFAM
Pfam:RAP	475	513	1.4e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115047
AA Change: F516S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110699
Gene: ENSMUSG00000028962
AA Change: F516S

Domain	Start	End	E-Value	Type
low complexity region	79	96	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
low complexity region	124	137	N/A	INTRINSIC
low complexity region	155	164	N/A	INTRINSIC
low complexity region	186	202	N/A	INTRINSIC
low complexity region	282	299	N/A	INTRINSIC
Pfam:Band_3_cyto	334	602	7.2e-108	PFAM
Pfam:HCO3_cotransp	656	1151	1e-244	PFAM
transmembrane domain	1169	1186	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115049
AA Change: F521S

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

SMART Domains

Protein: ENSMUSP00000110701
Gene: ENSMUSG00000028962
AA Change: F521S

Domain	Start	End	E-Value	Type
low complexity region	84	101	N/A	INTRINSIC
low complexity region	103	126	N/A	INTRINSIC
low complexity region	129	142	N/A	INTRINSIC
low complexity region	160	169	N/A	INTRINSIC
low complexity region	191	207	N/A	INTRINSIC
low complexity region	287	304	N/A	INTRINSIC
Pfam:Band_3_cyto	339	607	7.3e-108	PFAM
Pfam:HCO3_cotransp	661	1156	1e-244	PFAM
transmembrane domain	1174	1191	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140722

Predicted Effect

probably benign
Transcript: ENSMUST00000141966

SMART Domains

Protein: ENSMUSP00000117215
Gene: ENSMUSG00000028962

Domain	Start	End	E-Value	Type
low complexity region	93	110	N/A	INTRINSIC
low complexity region	113	129	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198786

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced expression of this gene may be associated with primary biliary cirrhosis (PBC) in human patients, while differential expression of this gene may be associated with malignant hepatocellular carcinoma, colon and gastric cancers. [provided by RefSeq, Nov 2016]
PHENOTYPE: Mice carrying an isoform-specific allele display male infertility associated with disrupted spermiogenesis and germ cell apoptosis. Mice homozygous for a null allele display perinatal and postnatal lethality, loss of gastric acid secretion, failure of tooth eruption, aphagia, and deafness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
9130008F23Rik	G	T	17: 40,880,161	Q126K	probably benign	Het
Abca15	C	A	7: 120,401,718	N1492K	probably damaging	Het
Afap1l2	C	T	19: 56,918,040	D402N	probably damaging	Het
Akap11	A	G	14: 78,512,968	F660L	probably damaging	Het
Bcl3	T	C	7: 19,820,177	T89A	probably benign	Het
Bub1b	T	C	2: 118,636,770	I858T	possibly damaging	Het
Cdk19	A	G	10: 40,476,218	D288G	possibly damaging	Het
Cyp2d34	T	A	15: 82,618,329	D202V	probably damaging	Het
Dip2c	T	G	13: 9,575,223	Y584*	probably null	Het
Dpf3	A	T	12: 83,331,861		probably null	Het
Drp2	G	A	X: 134,441,316	R567H	probably damaging	Homo
Emid1	G	T	11: 5,131,512	Q212K	probably benign	Het
Esm1	C	T	13: 113,213,399	Q118*	probably null	Het
Fahd2a	T	G	2: 127,436,364	I308L	probably benign	Het
Fam208a	T	A	14: 27,429,114	W16R	possibly damaging	Het
Fanci	T	C	7: 79,435,378	*851Q	probably null	Het
Fastkd1	C	A	2: 69,702,740	V428F	probably damaging	Het
Fat2	A	T	11: 55,283,092	I2265N	probably damaging	Het
Gale	C	A	4: 135,966,860	H191Q	probably damaging	Het
Ghsr	T	A	3: 27,372,254	V153E	possibly damaging	Het
Gm10696	C	T	3: 94,176,316	G63R	probably damaging	Het
Gpc6	A	G	14: 117,624,539	N289S	possibly damaging	Het
Hoxb6	A	T	11: 96,300,711	Y153F	probably damaging	Het
Ints3	T	C	3: 90,415,507	T139A	probably benign	Het
Irf2bp2	A	G	8: 126,592,671	S256P	probably benign	Het
Klf4	G	T	4: 55,530,640	P148Q	probably damaging	Het
Loxl1	T	G	9: 58,312,537	H117P	probably damaging	Het
Lpl	A	G	8: 68,895,793	K225E	probably benign	Het
Lrba	T	A	3: 86,360,037	V1678D	probably damaging	Het
Med1	A	T	11: 98,163,904	F398Y	probably damaging	Het
Mfap2	T	C	4: 141,015,578	*186Q	probably null	Het
Mfsd3	T	C	15: 76,701,982	L105P	probably damaging	Het
Mlxip	T	G	5: 123,395,294	I122S	probably damaging	Het
Mmrn2	A	T	14: 34,396,398	Y107F	probably damaging	Het
Mtg1	G	T	7: 140,140,283	D88Y	probably null	Het
Mutyh	T	A	4: 116,817,935	S426R	probably benign	Het
Myo16	C	T	8: 10,476,094	T878I	probably damaging	Het
Myo9a	T	A	9: 59,861,472	Y912*	probably null	Het
Ncor1	A	C	11: 62,343,341	I669R	probably damaging	Het
Ndufs1	T	C	1: 63,163,776	I210V	probably benign	Het
Nek9	A	G	12: 85,310,420	C657R	probably damaging	Het
Noct	C	T	3: 51,250,021	T260I	probably damaging	Het
Nr1h4	A	T	10: 89,498,180	M102K	probably benign	Het
Obscn	G	A	11: 59,124,761	R1054C	possibly damaging	Het
Olfr1124	T	A	2: 87,435,152	F222I	probably benign	Het
Olfr352	C	A	2: 36,869,988	Q141K	probably benign	Het
Olfr47	A	G	6: 43,236,456	M283V	possibly damaging	Het
Olfr501-ps1	G	A	7: 108,508,243	M62I	probably damaging	Het
Olfr615	T	A	7: 103,561,317	I280N	possibly damaging	Het
Olfr619	A	T	7: 103,603,656	M1L	probably benign	Het
Otol1	C	A	3: 70,018,878	Q129K	probably benign	Het
Otx1	A	T	11: 21,998,532		probably null	Het
Pcdhac2	C	A	18: 37,146,251	N761K	probably damaging	Het
Pde1c	A	T	6: 56,150,624	M452K	probably damaging	Het
Phkg2	T	C	7: 127,573,941	Y24H	probably damaging	Het
Pigr	G	A	1: 130,841,817	D122N	probably benign	Het
Prg4	C	T	1: 150,460,681	C97Y	probably damaging	Het
Ptdss1	T	C	13: 66,945,288	V64A	probably benign	Het
Ralgapa2	T	C	2: 146,447,311	K324E	probably damaging	Het
Rfx5	G	A	3: 94,955,815	V73I	probably benign	Het
Riiad1	T	C	3: 94,472,863	T42A	probably benign	Het
Rims2	T	C	15: 39,454,445	V640A	possibly damaging	Het
Rnpep	G	T	1: 135,263,032	S592Y	possibly damaging	Het
Scap	T	C	9: 110,378,390	L431P	probably damaging	Het
Siglec1	T	A	2: 131,073,361	I1437F	possibly damaging	Het
Skint1	T	C	4: 112,028,333		probably null	Het
Slc44a1	A	G	4: 53,543,644	E396G	probably damaging	Het
Smarcc1	T	A	9: 110,175,061	S394R	probably damaging	Het
Socs1	A	G	16: 10,784,685	S63P	probably benign	Het
Sun1	T	G	5: 139,225,333	S20A	possibly damaging	Het
Tac4	A	T	11: 95,265,242	K50*	probably null	Het
Tcaf2	A	G	6: 42,642,640	I151T	probably damaging	Het
Tcf4	T	C	18: 69,681,769	V587A	probably damaging	Het
Ttc37	T	A	13: 76,182,936	M1495K	probably damaging	Het
Ttn	T	A	2: 76,740,909	K24801*	probably null	Het
Tuba3b	G	T	6: 145,621,273	M413I	possibly damaging	Het
Ufl1	C	T	4: 25,267,832	A280T	possibly damaging	Het
Ugt2b5	T	A	5: 87,139,673	I212L	probably benign	Het
Umodl1	A	G	17: 30,986,485	T685A	probably benign	Het
Uqcrc1	T	A	9: 108,944,810	V183D	probably damaging	Het
Ush2a	A	G	1: 188,910,720	N4093S	probably benign	Het
Vmn1r167	C	T	7: 23,505,228	S121N	probably damaging	Het
Vmn1r47	A	G	6: 90,022,758	S291G	possibly damaging	Het
Vmn2r108	A	G	17: 20,481,187	V17A	probably benign	Het
Vmn2r58	T	A	7: 41,837,752	H573L	probably benign	Het
Xirp1	C	T	9: 120,018,792	V342I	probably damaging	Het
Zfp462	A	G	4: 55,051,204	M2226V	possibly damaging	Het
Zfp467	G	A	6: 48,439,029	H230Y	probably damaging	Het
Zfp595	T	A	13: 67,316,401	K599N	probably damaging	Het
Zfp819	C	A	7: 43,617,296	T401K	probably benign	Het

Other mutations in Slc4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Slc4a2	APN	5	24439068	missense	probably damaging	1.00
IGL00772:Slc4a2	APN	5	24435196	missense	probably damaging	1.00
IGL00897:Slc4a2	APN	5	24429559	nonsense	probably null
IGL01477:Slc4a2	APN	5	24430156	unclassified	probably benign
IGL01680:Slc4a2	APN	5	24432930	missense	probably benign	0.23
IGL01681:Slc4a2	APN	5	24434187	missense	probably damaging	1.00
IGL01808:Slc4a2	APN	5	24440207	missense	probably damaging	1.00
IGL02399:Slc4a2	APN	5	24434713	missense	probably damaging	1.00
IGL02501:Slc4a2	APN	5	24429434	missense	probably benign	0.00
IGL03214:Slc4a2	APN	5	24434881	missense	probably benign	0.01
R0238:Slc4a2	UTSW	5	24436274	splice site	probably null
R0238:Slc4a2	UTSW	5	24436274	splice site	probably null
R0309:Slc4a2	UTSW	5	24434346	missense	probably damaging	1.00
R0325:Slc4a2	UTSW	5	24435943	missense	probably damaging	1.00
R0656:Slc4a2	UTSW	5	24431259	missense	probably benign	0.05
R0755:Slc4a2	UTSW	5	24435577	missense	probably benign	0.07
R0946:Slc4a2	UTSW	5	24435886	missense	probably damaging	1.00
R1075:Slc4a2	UTSW	5	24439057	missense	possibly damaging	0.85
R1733:Slc4a2	UTSW	5	24429567	missense	probably damaging	1.00
R1794:Slc4a2	UTSW	5	24439328	missense	probably damaging	1.00
R1823:Slc4a2	UTSW	5	24427620	missense	probably damaging	0.99
R2048:Slc4a2	UTSW	5	24431559	missense	probably damaging	1.00
R2165:Slc4a2	UTSW	5	24431316	missense	probably damaging	1.00
R2181:Slc4a2	UTSW	5	24435653	missense	possibly damaging	0.80
R2405:Slc4a2	UTSW	5	24435601	missense	probably damaging	1.00
R3551:Slc4a2	UTSW	5	24430101	missense	probably benign	0.01
R4423:Slc4a2	UTSW	5	24439848	nonsense	probably null
R4457:Slc4a2	UTSW	5	24434330	unclassified	probably benign
R4678:Slc4a2	UTSW	5	24434240	critical splice donor site	probably null
R4730:Slc4a2	UTSW	5	24434880	missense	probably damaging	1.00
R4824:Slc4a2	UTSW	5	24440143	missense	probably damaging	1.00
R4928:Slc4a2	UTSW	5	24435342	critical splice donor site	probably null
R5071:Slc4a2	UTSW	5	24438762	missense	probably benign
R5072:Slc4a2	UTSW	5	24438762	missense	probably benign
R5073:Slc4a2	UTSW	5	24438762	missense	probably benign
R5074:Slc4a2	UTSW	5	24438762	missense	probably benign
R5108:Slc4a2	UTSW	5	24439333	missense	probably damaging	1.00
R5135:Slc4a2	UTSW	5	24430127	missense	possibly damaging	0.78
R5349:Slc4a2	UTSW	5	24435635	missense	possibly damaging	0.74
R5601:Slc4a2	UTSW	5	24438774	missense	probably benign	0.07
R5666:Slc4a2	UTSW	5	24434838	missense	probably damaging	1.00
R5670:Slc4a2	UTSW	5	24434838	missense	probably damaging	1.00
R6256:Slc4a2	UTSW	5	24435890	missense	probably damaging	1.00
R6861:Slc4a2	UTSW	5	24435009	missense	probably damaging	1.00
R7360:Slc4a2	UTSW	5	24429715	missense	probably benign	0.11
R7494:Slc4a2	UTSW	5	24432864	missense	possibly damaging	0.91
R7740:Slc4a2	UTSW	5	24431668	splice site	probably null
R8087:Slc4a2	UTSW	5	24438749	unclassified	probably benign
X0027:Slc4a2	UTSW	5	24435914	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGAAGCTGCTGGAGAAGATC -3'
(R):5'- TGCCCAAGCAGATAGGGATC -3'

Sequencing Primer
(F):5'- ATCCCTGAGAATGCGGAGGC -3'
(R):5'- CTGGGAACTGGGGCAGGTAC -3'

Posted On

2016-05-10