Mutagenetix > Incidental Mutation

Incidental Mutation 'R0755:Slc4a2'

70402

Institutional Source

Beutler Lab

Gene Symbol

Slc4a2

Ensembl Gene

ENSMUSG00000028962

Gene Name

solute carrier family 4 (anion exchanger), member 2

Synonyms

Ae2, B3RP

MMRRC Submission

038935-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.538) question?

Stock #

R0755 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

24628939-24645945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24640575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 652 (A652T)

Ref Sequence

ENSEMBL: ENSMUSP00000110699 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000080067
AA Change: A666T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000078972
Gene: ENSMUSG00000028962
AA Change: A666T

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 benign
Transcript: ENSMUST00000115047
AA Change: A652T

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110699
Gene: ENSMUSG00000028962
AA Change: A652T

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 benign
Transcript: ENSMUST00000115049
AA Change: A657T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110701
Gene: ENSMUSG00000028962
AA Change: A657T

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: ENSMUST00000132505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158071

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 93.8%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	T	14: 55,797,638 (GRCm39)		probably benign	Het
Acin1	A	G	14: 54,889,292 (GRCm39)	M1T	probably null	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Aldh1a1	A	G	19: 20,595,358 (GRCm39)	M96V	probably benign	Het
Ankfn1	T	A	11: 89,282,913 (GRCm39)	M245L	probably benign	Het
Arhgap19	T	C	19: 41,769,614 (GRCm39)	K54E	probably damaging	Het
Atp1a2	T	C	1: 172,116,948 (GRCm39)	Q223R	probably benign	Het
Atp8a2	C	T	14: 60,247,330 (GRCm39)	V557I	possibly damaging	Het
AU041133	A	T	10: 81,986,724 (GRCm39)	K126*	probably null	Het
Axin1	T	A	17: 26,401,480 (GRCm39)	Y351N	possibly damaging	Het
Baiap2l1	T	C	5: 144,221,367 (GRCm39)	K176E	probably damaging	Het
Baz2a	C	T	10: 127,955,560 (GRCm39)	T848I	possibly damaging	Het
Bbs2	A	C	8: 94,808,708 (GRCm39)	V333G	probably benign	Het
BC051019	G	A	7: 109,315,302 (GRCm39)	Q318*	probably null	Het
Bltp1	T	C	3: 37,000,513 (GRCm39)	S1231P	probably damaging	Het
Cdc37	C	T	9: 21,051,160 (GRCm39)	D362N	probably damaging	Het
Cep170	A	T	1: 176,583,319 (GRCm39)	V1020E	probably damaging	Het
Chrm4	T	C	2: 91,758,747 (GRCm39)	V385A	probably benign	Het
Cntrl	G	A	2: 35,035,151 (GRCm39)	S373N	probably damaging	Het
Col23a1	G	A	11: 51,467,706 (GRCm39)	G19D	probably damaging	Het
Cyb5r4	G	T	9: 86,911,625 (GRCm39)	A100S	probably damaging	Het
Dctn1	C	T	6: 83,166,059 (GRCm39)	P115S	probably damaging	Het
Dhrs2	C	T	14: 55,472,247 (GRCm39)	T46M	probably damaging	Het
Disp2	T	C	2: 118,620,243 (GRCm39)	F325S	probably benign	Het
Dnah11	T	G	12: 117,918,564 (GRCm39)	T3456P	possibly damaging	Het
Dnah11	C	A	12: 118,162,360 (GRCm39)	V70F	probably benign	Het
Duoxa1	T	A	2: 122,135,161 (GRCm39)	T195S	probably benign	Het
Dync2i1	T	C	12: 116,175,412 (GRCm39)	I922V	probably benign	Het
Eif2ak1	T	A	5: 143,821,742 (GRCm39)	F353I	possibly damaging	Het
Esam	A	G	9: 37,447,998 (GRCm39)	T211A	probably damaging	Het
Faf1	A	G	4: 109,819,036 (GRCm39)	N636S	probably benign	Het
Fbxo25	A	G	8: 13,985,219 (GRCm39)	Y305C	probably benign	Het
Fchsd1	C	T	18: 38,101,803 (GRCm39)		probably null	Het
Fdxacb1	T	A	9: 50,683,025 (GRCm39)	D329E	possibly damaging	Het
Gvin2	A	T	7: 105,545,892 (GRCm39)	F2387I	possibly damaging	Het
Hbq1b	A	T	11: 32,237,104 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,343,172 (GRCm39)	V4566E	probably damaging	Het
Igkv6-29	G	A	6: 70,116,053 (GRCm39)	T5I	probably benign	Het
Itfg1	A	T	8: 86,452,834 (GRCm39)	D511E	possibly damaging	Het
Jmjd1c	C	T	10: 66,932,378 (GRCm39)		probably benign	Het
Kat6b	T	A	14: 21,687,661 (GRCm39)	M570K	probably damaging	Het
Kdm4d	T	A	9: 14,375,591 (GRCm39)	K89M	probably damaging	Het
Krt19	A	T	11: 100,032,965 (GRCm39)	D194E	possibly damaging	Het
Lamc1	A	T	1: 153,123,196 (GRCm39)	Y665N	possibly damaging	Het
Lct	A	T	1: 128,221,872 (GRCm39)	S1556T	possibly damaging	Het
Macf1	A	G	4: 123,263,719 (GRCm39)	L4924P	probably damaging	Het
Mef2c	G	A	13: 83,804,472 (GRCm39)		probably null	Het
Mff	G	A	1: 82,728,326 (GRCm39)		probably null	Het
Mycbp2	A	T	14: 103,412,230 (GRCm39)	L2581Q	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nos3	T	A	5: 24,572,295 (GRCm39)	L123M	probably damaging	Het
Ntn5	C	T	7: 45,335,952 (GRCm39)	P128S	probably benign	Het
Nudt9	T	C	5: 104,212,920 (GRCm39)	V331A	probably damaging	Het
Or2y3	A	T	17: 38,393,085 (GRCm39)	Y261*	probably null	Het
Or7g34	T	C	9: 19,478,415 (GRCm39)	I88M	possibly damaging	Het
Pcdh7	A	T	5: 57,877,664 (GRCm39)	K406N	possibly damaging	Het
Pkdrej	T	A	15: 85,700,336 (GRCm39)	I1867L	probably benign	Het
Plppr4	C	T	3: 117,116,319 (GRCm39)	G455R	possibly damaging	Het
Pramel11	A	G	4: 143,624,299 (GRCm39)	V66A	probably damaging	Het
Prkag2	G	C	5: 25,152,629 (GRCm39)	S158R	probably benign	Het
Ptprq	T	G	10: 107,418,400 (GRCm39)	T1659P	probably benign	Het
Rasl12	A	G	9: 65,318,241 (GRCm39)	K202E	probably benign	Het
Rb1	A	C	14: 73,434,653 (GRCm39)	*922G	probably null	Het
Rsf1	C	T	7: 97,229,174 (GRCm39)	P22S	probably damaging	Het
Scn1a	T	G	2: 66,151,379 (GRCm39)	T797P	probably damaging	Het
Sgsm2	A	G	11: 74,756,323 (GRCm39)	V342A	probably damaging	Het
Slc22a7	T	G	17: 46,749,113 (GRCm39)	H68P	possibly damaging	Het
Slc5a1	T	A	5: 33,290,733 (GRCm39)	L106M	probably benign	Het
Slco1c1	C	T	6: 141,477,258 (GRCm39)	P19S	probably damaging	Het
Snx1	A	G	9: 66,005,738 (GRCm39)	F127S	probably damaging	Het
Snx31	A	T	15: 36,534,576 (GRCm39)	I199N	probably damaging	Het
Snx33	T	C	9: 56,832,741 (GRCm39)	I443V	possibly damaging	Het
Sptbn1	A	G	11: 30,089,016 (GRCm39)	F749L	probably damaging	Het
Stoml3	T	A	3: 53,405,559 (GRCm39)	Y53*	probably null	Het
Stxbp2	A	G	8: 3,692,019 (GRCm39)	T554A	probably benign	Het
Tal1	T	C	4: 114,925,573 (GRCm39)	I214T	probably damaging	Het
Tas2r140	T	A	6: 40,468,344 (GRCm39)	I58N	probably damaging	Het
Thap1	A	G	8: 26,648,501 (GRCm39)	Y8C	probably damaging	Het
Thsd7a	A	T	6: 12,555,368 (GRCm39)	L172Q	probably damaging	Het
Ube3c	T	A	5: 29,842,740 (GRCm39)	D735E	probably damaging	Het
Unc80	G	A	1: 66,544,082 (GRCm39)	D402N	probably damaging	Het
Upf1	G	T	8: 70,786,779 (GRCm39)	R902S	probably benign	Het
Urb1	A	G	16: 90,570,982 (GRCm39)	Y1276H	probably damaging	Het
Urb1	A	T	16: 90,576,026 (GRCm39)	F843L	probably benign	Het
Vmn1r198	C	T	13: 22,539,402 (GRCm39)	T296I	probably benign	Het
Vmn1r33	A	T	6: 66,588,892 (GRCm39)	S221T	probably damaging	Het
Vmn2r103	A	G	17: 19,993,830 (GRCm39)	D69G	probably benign	Het
Vmn2r14	T	G	5: 109,364,226 (GRCm39)	L563F	possibly damaging	Het
Vmn2r60	G	A	7: 41,844,869 (GRCm39)	G744D	probably damaging	Het
Vstm4	T	C	14: 32,614,601 (GRCm39)	V181A	probably damaging	Het
Wdr72	G	A	9: 74,052,376 (GRCm39)	V136I	probably benign	Het
Zfp236	T	A	18: 82,638,457 (GRCm39)	N1388Y	probably damaging	Het
Zfp53	T	A	17: 21,728,839 (GRCm39)	F291I	probably damaging	Het
Zfp944	A	T	17: 22,558,889 (GRCm39)	H119Q	possibly damaging	Het

Other mutations in Slc4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Slc4a2	APN	5	24,644,066 (GRCm39)	missense	probably damaging	1.00
IGL00772:Slc4a2	APN	5	24,640,194 (GRCm39)	missense	probably damaging	1.00
IGL00897:Slc4a2	APN	5	24,634,557 (GRCm39)	nonsense	probably null
IGL01477:Slc4a2	APN	5	24,635,154 (GRCm39)	unclassified	probably benign
IGL01680:Slc4a2	APN	5	24,637,928 (GRCm39)	missense	probably benign	0.23
IGL01681:Slc4a2	APN	5	24,639,185 (GRCm39)	missense	probably damaging	1.00
IGL01808:Slc4a2	APN	5	24,645,205 (GRCm39)	missense	probably damaging	1.00
IGL02399:Slc4a2	APN	5	24,639,711 (GRCm39)	missense	probably damaging	1.00
IGL02501:Slc4a2	APN	5	24,634,432 (GRCm39)	missense	probably benign	0.00
IGL03214:Slc4a2	APN	5	24,639,879 (GRCm39)	missense	probably benign	0.01
R0238:Slc4a2	UTSW	5	24,641,272 (GRCm39)	splice site	probably null
R0238:Slc4a2	UTSW	5	24,641,272 (GRCm39)	splice site	probably null
R0309:Slc4a2	UTSW	5	24,639,344 (GRCm39)	missense	probably damaging	1.00
R0325:Slc4a2	UTSW	5	24,640,941 (GRCm39)	missense	probably damaging	1.00
R0656:Slc4a2	UTSW	5	24,636,257 (GRCm39)	missense	probably benign	0.05
R0946:Slc4a2	UTSW	5	24,640,884 (GRCm39)	missense	probably damaging	1.00
R1075:Slc4a2	UTSW	5	24,644,055 (GRCm39)	missense	possibly damaging	0.85
R1733:Slc4a2	UTSW	5	24,634,565 (GRCm39)	missense	probably damaging	1.00
R1794:Slc4a2	UTSW	5	24,644,326 (GRCm39)	missense	probably damaging	1.00
R1823:Slc4a2	UTSW	5	24,632,618 (GRCm39)	missense	probably damaging	0.99
R2048:Slc4a2	UTSW	5	24,636,557 (GRCm39)	missense	probably damaging	1.00
R2165:Slc4a2	UTSW	5	24,636,314 (GRCm39)	missense	probably damaging	1.00
R2181:Slc4a2	UTSW	5	24,640,651 (GRCm39)	missense	possibly damaging	0.80
R2405:Slc4a2	UTSW	5	24,640,599 (GRCm39)	missense	probably damaging	1.00
R3551:Slc4a2	UTSW	5	24,635,099 (GRCm39)	missense	probably benign	0.01
R4423:Slc4a2	UTSW	5	24,644,846 (GRCm39)	nonsense	probably null
R4457:Slc4a2	UTSW	5	24,639,328 (GRCm39)	unclassified	probably benign
R4678:Slc4a2	UTSW	5	24,639,238 (GRCm39)	critical splice donor site	probably null
R4730:Slc4a2	UTSW	5	24,639,878 (GRCm39)	missense	probably damaging	1.00
R4824:Slc4a2	UTSW	5	24,645,141 (GRCm39)	missense	probably damaging	1.00
R4928:Slc4a2	UTSW	5	24,640,340 (GRCm39)	critical splice donor site	probably null
R4993:Slc4a2	UTSW	5	24,639,867 (GRCm39)	missense	probably damaging	1.00
R5071:Slc4a2	UTSW	5	24,643,760 (GRCm39)	missense	probably benign
R5072:Slc4a2	UTSW	5	24,643,760 (GRCm39)	missense	probably benign
R5073:Slc4a2	UTSW	5	24,643,760 (GRCm39)	missense	probably benign
R5074:Slc4a2	UTSW	5	24,643,760 (GRCm39)	missense	probably benign
R5108:Slc4a2	UTSW	5	24,644,331 (GRCm39)	missense	probably damaging	1.00
R5135:Slc4a2	UTSW	5	24,635,125 (GRCm39)	missense	possibly damaging	0.78
R5349:Slc4a2	UTSW	5	24,640,633 (GRCm39)	missense	possibly damaging	0.74
R5601:Slc4a2	UTSW	5	24,643,772 (GRCm39)	missense	probably benign	0.07
R5666:Slc4a2	UTSW	5	24,639,836 (GRCm39)	missense	probably damaging	1.00
R5670:Slc4a2	UTSW	5	24,639,836 (GRCm39)	missense	probably damaging	1.00
R6256:Slc4a2	UTSW	5	24,640,888 (GRCm39)	missense	probably damaging	1.00
R6861:Slc4a2	UTSW	5	24,640,007 (GRCm39)	missense	probably damaging	1.00
R7360:Slc4a2	UTSW	5	24,634,713 (GRCm39)	missense	probably benign	0.11
R7494:Slc4a2	UTSW	5	24,637,862 (GRCm39)	missense	possibly damaging	0.91
R7740:Slc4a2	UTSW	5	24,636,666 (GRCm39)	splice site	probably null
R8087:Slc4a2	UTSW	5	24,643,747 (GRCm39)	unclassified	probably benign
R8966:Slc4a2	UTSW	5	24,635,092 (GRCm39)	missense	probably benign
R9236:Slc4a2	UTSW	5	24,644,308 (GRCm39)	missense	probably benign
R9287:Slc4a2	UTSW	5	24,639,123 (GRCm39)	missense	probably damaging	1.00
R9430:Slc4a2	UTSW	5	24,636,317 (GRCm39)	missense	probably benign	0.09
R9492:Slc4a2	UTSW	5	24,644,761 (GRCm39)	missense	probably benign	0.11
R9661:Slc4a2	UTSW	5	24,640,005 (GRCm39)	missense	probably damaging	1.00
X0027:Slc4a2	UTSW	5	24,640,912 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GACCAGAAGCCGACTACATTGTCTC -3'
(R):5'- GTGGACATGATCAGCTCTGACACTC -3'

Sequencing Primer
(F):5'- ACATTGTCTCTGTCTGTAGTCAG -3'
(R):5'- CAAGCTCAGTACCTGGTGG -3'

Posted On

2013-09-30