Mutagenetix > Incidental Mutation

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

Ae2, B3RP

MMRRC Submission

042587-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.538) question?

Stock #

R4993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24628939-24645945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24639867 bp (GRCm39)

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]

AlphaFold

no structure available at present

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

noncoding transcript
Transcript: ENSMUST00000146765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149537

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

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: 30,376,349 (GRCm39)	V173M	probably damaging	Het
9130008F23Rik	G	T	17: 41,191,052 (GRCm39)	Q126K	probably benign	Het
Abca15	C	A	7: 120,000,941 (GRCm39)	N1492K	probably damaging	Het
Afap1l2	C	T	19: 56,906,472 (GRCm39)	D402N	probably damaging	Het
Akap11	A	G	14: 78,750,408 (GRCm39)	F660L	probably damaging	Het
Bcl3	T	C	7: 19,554,102 (GRCm39)	T89A	probably benign	Het
Bub1b	T	C	2: 118,467,251 (GRCm39)	I858T	possibly damaging	Het
Cdk19	A	G	10: 40,352,214 (GRCm39)	D288G	possibly damaging	Het
Cyp2d34	T	A	15: 82,502,530 (GRCm39)	D202V	probably damaging	Het
Dip2c	T	G	13: 9,625,259 (GRCm39)	Y584*	probably null	Het
Dpf3	A	T	12: 83,378,635 (GRCm39)		probably null	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Emid1	G	T	11: 5,081,512 (GRCm39)	Q212K	probably benign	Het
Esm1	C	T	13: 113,349,933 (GRCm39)	Q118*	probably null	Het
Fahd2a	T	G	2: 127,278,284 (GRCm39)	I308L	probably benign	Het
Fanci	T	C	7: 79,085,126 (GRCm39)	*851Q	probably null	Het
Fastkd1	C	A	2: 69,533,084 (GRCm39)	V428F	probably damaging	Het
Fat2	A	T	11: 55,173,918 (GRCm39)	I2265N	probably damaging	Het
Gale	C	A	4: 135,694,171 (GRCm39)	H191Q	probably damaging	Het
Ghsr	T	A	3: 27,426,403 (GRCm39)	V153E	possibly damaging	Het
Gpc6	A	G	14: 117,861,951 (GRCm39)	N289S	possibly damaging	Het
Hoxb6	A	T	11: 96,191,537 (GRCm39)	Y153F	probably damaging	Het
Ints3	T	C	3: 90,322,814 (GRCm39)	T139A	probably benign	Het
Irf2bp2	A	G	8: 127,319,410 (GRCm39)	S256P	probably benign	Het
Klf4	G	T	4: 55,530,640 (GRCm39)	P148Q	probably damaging	Het
Loxl1	T	G	9: 58,219,820 (GRCm39)	H117P	probably damaging	Het
Lpl	A	G	8: 69,348,445 (GRCm39)	K225E	probably benign	Het
Lrba	T	A	3: 86,267,344 (GRCm39)	V1678D	probably damaging	Het
Med1	A	T	11: 98,054,730 (GRCm39)	F398Y	probably damaging	Het
Mfap2	T	C	4: 140,742,889 (GRCm39)	*186Q	probably null	Het
Mfsd3	T	C	15: 76,586,182 (GRCm39)	L105P	probably damaging	Het
Mlxip	T	G	5: 123,533,357 (GRCm39)	I122S	probably damaging	Het
Mmrn2	A	T	14: 34,118,355 (GRCm39)	Y107F	probably damaging	Het
Mtg1	G	T	7: 139,720,196 (GRCm39)	D88Y	probably null	Het
Mutyh	T	A	4: 116,675,132 (GRCm39)	S426R	probably benign	Het
Myo16	C	T	8: 10,526,094 (GRCm39)	T878I	probably damaging	Het
Myo9a	T	A	9: 59,768,755 (GRCm39)	Y912*	probably null	Het
Ncor1	A	C	11: 62,234,167 (GRCm39)	I669R	probably damaging	Het
Ndufs1	T	C	1: 63,202,935 (GRCm39)	I210V	probably benign	Het
Nek9	A	G	12: 85,357,194 (GRCm39)	C657R	probably damaging	Het
Noct	C	T	3: 51,157,442 (GRCm39)	T260I	probably damaging	Het
Nr1h4	A	T	10: 89,334,042 (GRCm39)	M102K	probably benign	Het
Obscn	G	A	11: 59,015,587 (GRCm39)	R1054C	possibly damaging	Het
Or10ag58	T	A	2: 87,265,496 (GRCm39)	F222I	probably benign	Het
Or1j20	C	A	2: 36,760,000 (GRCm39)	Q141K	probably benign	Het
Or2a57	A	G	6: 43,213,390 (GRCm39)	M283V	possibly damaging	Het
Or51ah3	T	A	7: 103,210,524 (GRCm39)	I280N	possibly damaging	Het
Or52z14	A	T	7: 103,252,863 (GRCm39)	M1L	probably benign	Het
Or5p75-ps1	G	A	7: 108,107,450 (GRCm39)	M62I	probably damaging	Het
Otol1	C	A	3: 69,926,211 (GRCm39)	Q129K	probably benign	Het
Otx1	A	T	11: 21,948,532 (GRCm39)		probably null	Het
Pcdhac2	C	A	18: 37,279,304 (GRCm39)	N761K	probably damaging	Het
Pde1c	A	T	6: 56,127,609 (GRCm39)	M452K	probably damaging	Het
Phkg2	T	C	7: 127,173,113 (GRCm39)	Y24H	probably damaging	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prg4	C	T	1: 150,336,432 (GRCm39)	C97Y	probably damaging	Het
Ptdss1	T	C	13: 67,093,352 (GRCm39)	V64A	probably benign	Het
Ralgapa2	T	C	2: 146,289,231 (GRCm39)	K324E	probably damaging	Het
Rfx5	G	A	3: 94,863,126 (GRCm39)	V73I	probably benign	Het
Riiad1	T	C	3: 94,380,170 (GRCm39)	T42A	probably benign	Het
Rims2	T	C	15: 39,317,841 (GRCm39)	V640A	possibly damaging	Het
Rnpep	G	T	1: 135,190,770 (GRCm39)	S592Y	possibly damaging	Het
Scap	T	C	9: 110,207,458 (GRCm39)	L431P	probably damaging	Het
Siglec1	T	A	2: 130,915,281 (GRCm39)	I1437F	possibly damaging	Het
Skic3	T	A	13: 76,331,055 (GRCm39)	M1495K	probably damaging	Het
Skint1	T	C	4: 111,885,530 (GRCm39)		probably null	Het
Slc44a1	A	G	4: 53,543,644 (GRCm39)	E396G	probably damaging	Het
Smarcc1	T	A	9: 110,004,129 (GRCm39)	S394R	probably damaging	Het
Socs1	A	G	16: 10,602,549 (GRCm39)	S63P	probably benign	Het
Spopfm2	C	T	3: 94,083,623 (GRCm39)	G63R	probably damaging	Het
Sun1	T	G	5: 139,211,088 (GRCm39)	S20A	possibly damaging	Het
Tac4	A	T	11: 95,156,068 (GRCm39)	K50*	probably null	Het
Tasor	T	A	14: 27,151,071 (GRCm39)	W16R	possibly damaging	Het
Tcaf2	A	G	6: 42,619,574 (GRCm39)	I151T	probably damaging	Het
Tcf4	T	C	18: 69,814,840 (GRCm39)	V587A	probably damaging	Het
Ttn	T	A	2: 76,571,253 (GRCm39)	K24801*	probably null	Het
Tuba3b	G	T	6: 145,566,999 (GRCm39)	M413I	possibly damaging	Het
Ufl1	C	T	4: 25,267,832 (GRCm39)	A280T	possibly damaging	Het
Ugt2b5	T	A	5: 87,287,532 (GRCm39)	I212L	probably benign	Het
Umodl1	A	G	17: 31,205,459 (GRCm39)	T685A	probably benign	Het
Uqcrc1	T	A	9: 108,773,878 (GRCm39)	V183D	probably damaging	Het
Ush2a	A	G	1: 188,642,917 (GRCm39)	N4093S	probably benign	Het
Vmn1r167	C	T	7: 23,204,653 (GRCm39)	S121N	probably damaging	Het
Vmn1r47	A	G	6: 89,999,740 (GRCm39)	S291G	possibly damaging	Het
Vmn2r108	A	G	17: 20,701,449 (GRCm39)	V17A	probably benign	Het
Vmn2r58	T	A	7: 41,487,176 (GRCm39)	H573L	probably benign	Het
Xirp1	C	T	9: 119,847,858 (GRCm39)	V342I	probably damaging	Het
Zfp462	A	G	4: 55,051,204 (GRCm39)	M2226V	possibly damaging	Het
Zfp467	G	A	6: 48,415,963 (GRCm39)	H230Y	probably damaging	Het
Zfp595	T	A	13: 67,464,465 (GRCm39)	K599N	probably damaging	Het
Zfp819	C	A	7: 43,266,720 (GRCm39)	T401K	probably benign	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
R0755:Slc4a2	UTSW	5	24,640,575 (GRCm39)	missense	probably benign	0.07
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
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'- TGAAGCTGCTGGAGAAGATC -3'
(R):5'- TGCCCAAGCAGATAGGGATC -3'

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

Posted On

2016-05-10