Mutagenetix > Incidental Mutation

Incidental Mutation 'R1733:Slc4a2'

199470

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

039765-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.505) question?

Stock #

R1733 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24628939-24645945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24634565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 68 (E68G)

Ref Sequence

ENSEMBL: ENSMUSP00000117215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080067] [ENSMUST00000115047] [ENSMUST00000115049] [ENSMUST00000141966] [ENSMUST00000155598] [ENSMUST00000153274]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000080067
AA Change: E68G

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000078972
Gene: ENSMUSG00000028962
AA Change: E68G

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: ENSMUST00000115047
AA Change: E54G

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110699
Gene: ENSMUSG00000028962
AA Change: E54G

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: E59G

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110701
Gene: ENSMUSG00000028962
AA Change: E59G

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: ENSMUST00000136440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139081

Predicted Effect

probably damaging
Transcript: ENSMUST00000141966
AA Change: E68G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117215
Gene: ENSMUSG00000028962
AA Change: E68G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000155598
AA Change: E68G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118473
Gene: ENSMUSG00000028962
AA Change: E68G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155636

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146765

Predicted Effect

probably benign
Transcript: ENSMUST00000153274

Meta Mutation Damage Score

0.0918

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

95% (95/100)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	G	18: 59,165,001 (GRCm39)	C1034W	probably damaging	Het
Agbl2	G	T	2: 90,641,089 (GRCm39)	K737N	probably damaging	Het
Aqp9	T	A	9: 71,019,624 (GRCm39)	I279F	possibly damaging	Het
Aspm	T	A	1: 139,384,855 (GRCm39)	N166K	probably benign	Het
Atp13a3	A	T	16: 30,176,084 (GRCm39)	I186N	probably benign	Het
Btaf1	A	T	19: 36,972,362 (GRCm39)	I1366L	probably benign	Het
Camk4	A	C	18: 33,211,074 (GRCm39)	K60Q	possibly damaging	Het
Card11	G	T	5: 140,892,388 (GRCm39)	Q226K	possibly damaging	Het
Ccdc187	T	C	2: 26,183,670 (GRCm39)	D110G	possibly damaging	Het
Col5a2	C	T	1: 45,446,192 (GRCm39)	R462Q	possibly damaging	Het
Cp	A	T	3: 20,022,383 (GRCm39)		probably benign	Het
Cpz	A	T	5: 35,675,102 (GRCm39)	V38E	probably damaging	Het
Cxcr6	G	A	9: 123,639,181 (GRCm39)	V68I	probably damaging	Het
Cyp2a22	C	A	7: 26,634,187 (GRCm39)	E322D	possibly damaging	Het
D130052B06Rik	C	T	11: 33,573,784 (GRCm39)	T127I	probably benign	Het
Daam2	T	A	17: 49,797,231 (GRCm39)	M185L	possibly damaging	Het
Dnaja3	G	A	16: 4,502,029 (GRCm39)	R11K	probably null	Het
Dnttip2	T	A	3: 122,070,397 (GRCm39)	S537R	probably benign	Het
Dock9	G	T	14: 121,864,292 (GRCm39)	H572Q	probably benign	Het
Dpp4	T	A	2: 62,203,213 (GRCm39)		probably null	Het
Enc1	T	G	13: 97,381,550 (GRCm39)	I20S	possibly damaging	Het
Ephb6	T	A	6: 41,596,654 (GRCm39)	H900Q	probably benign	Het
Ercc3	T	C	18: 32,400,218 (GRCm39)	V690A	possibly damaging	Het
Fam90a1a	C	T	8: 22,453,385 (GRCm39)	Q247*	probably null	Het
Fkbp10	G	A	11: 100,314,757 (GRCm39)	R423H	probably benign	Het
Fus	A	G	7: 127,580,717 (GRCm39)	M265V	probably benign	Het
Gas2l3	T	A	10: 89,250,127 (GRCm39)	K330N	probably damaging	Het
Gpam	T	G	19: 55,069,901 (GRCm39)	L410F	probably damaging	Het
Gpr37l1	A	T	1: 135,089,273 (GRCm39)	V264E	possibly damaging	Het
Grk6	A	T	13: 55,600,979 (GRCm39)		probably benign	Het
Gsto1	G	T	19: 47,843,674 (GRCm39)	V19F	probably damaging	Het
H1f7	G	T	15: 98,154,016 (GRCm39)	Q378K	unknown	Het
Hgfac	G	A	5: 35,201,018 (GRCm39)	C194Y	probably damaging	Het
Hivep1	A	G	13: 42,311,407 (GRCm39)	N1216D	probably damaging	Het
Hrg	C	T	16: 22,769,997 (GRCm39)	A42V	probably damaging	Het
Irx4	A	G	13: 73,414,824 (GRCm39)	D136G	probably benign	Het
Kcnn3	G	T	3: 89,559,397 (GRCm39)	V556L	probably benign	Het
Klk1b8	T	C	7: 43,451,545 (GRCm39)	Y179H	possibly damaging	Het
Klrb1f	T	A	6: 129,031,322 (GRCm39)	L173*	probably null	Het
Kremen2	A	T	17: 23,962,373 (GRCm39)		probably null	Het
Krt25	A	T	11: 99,207,378 (GRCm39)	Y400*	probably null	Het
Lingo4	A	T	3: 94,310,485 (GRCm39)	R474S	probably benign	Het
Lnpep	T	C	17: 17,773,575 (GRCm39)	K599E	probably benign	Het
Mapk8ip3	A	T	17: 25,155,824 (GRCm39)	M2K	possibly damaging	Het
Mat2b	A	T	11: 40,570,904 (GRCm39)	S307T	probably benign	Het
Mcph1	C	A	8: 18,681,979 (GRCm39)	A372D	probably benign	Het
Mfsd6	T	A	1: 52,748,524 (GRCm39)	I114F	probably damaging	Het
Mlkl	A	G	8: 112,049,380 (GRCm39)	S248P	probably damaging	Het
Mmrn1	A	T	6: 60,954,085 (GRCm39)	T789S	probably benign	Het
Mphosph8	A	G	14: 56,930,916 (GRCm39)	Y735C	probably damaging	Het
Mrc1	T	A	2: 14,261,910 (GRCm39)	Y300N	probably damaging	Het
Mrps11	A	G	7: 78,442,460 (GRCm39)	H180R	probably damaging	Het
Msh4	T	C	3: 153,573,404 (GRCm39)	D556G	probably damaging	Het
Myh10	C	A	11: 68,693,122 (GRCm39)	D1472E	probably benign	Het
Myo16	T	C	8: 10,492,283 (GRCm39)	S742P	probably damaging	Het
Nlrp5-ps	C	T	7: 14,316,978 (GRCm39)		noncoding transcript	Het
Nrp1	C	T	8: 129,194,974 (GRCm39)	P477S	probably benign	Het
Oplah	G	T	15: 76,186,683 (GRCm39)	C665*	probably null	Het
Or4f14b	T	A	2: 111,775,625 (GRCm39)	M59L	probably benign	Het
Or4f54	T	C	2: 111,123,210 (GRCm39)	V199A	probably damaging	Het
Or51b17	T	C	7: 103,542,118 (GRCm39)	S275G	probably benign	Het
Or8g22	G	T	9: 38,958,678 (GRCm39)	H57N	unknown	Het
Otogl	T	C	10: 107,619,573 (GRCm39)	T1696A	possibly damaging	Het
Pdzrn4	A	G	15: 92,299,855 (GRCm39)	I242V	probably benign	Het
Phgdh	G	A	3: 98,235,451 (GRCm39)	T141I	probably benign	Het
Pigv	T	C	4: 133,392,237 (GRCm39)	Y311C	probably damaging	Het
Pik3c2a	T	G	7: 116,017,755 (GRCm39)	M1L	possibly damaging	Het
Pitpnm1	A	T	19: 4,159,960 (GRCm39)	K760*	probably null	Het
Pnrc1	G	A	4: 33,246,438 (GRCm39)	H174Y	probably damaging	Het
Ptgis	A	G	2: 167,033,888 (GRCm39)		probably benign	Het
Ptpn4	T	C	1: 119,643,773 (GRCm39)		probably null	Het
Rin3	T	A	12: 102,335,589 (GRCm39)	L420*	probably null	Het
Sacs	T	G	14: 61,442,903 (GRCm39)	F1650V	probably damaging	Het
Sbno2	T	A	10: 79,894,342 (GRCm39)	N1081Y	possibly damaging	Het
Sema5b	C	T	16: 35,466,737 (GRCm39)	P213L	probably damaging	Het
Sharpin	T	C	15: 76,232,136 (GRCm39)	K240R	probably benign	Het
Skint6	T	A	4: 113,034,234 (GRCm39)		probably benign	Het
Srcin1	C	T	11: 97,424,327 (GRCm39)	V634I	probably benign	Het
Srsf10	T	A	4: 135,590,476 (GRCm39)	F134I	possibly damaging	Het
Stab1	C	A	14: 30,867,260 (GRCm39)	G1700V	probably damaging	Het
Sun1	T	G	5: 139,216,544 (GRCm39)	C290W	possibly damaging	Het
Svs6	T	A	2: 164,159,577 (GRCm39)		probably benign	Het
Tmem8b	G	A	4: 43,690,228 (GRCm39)		probably null	Het
Usp49	A	G	17: 47,983,238 (GRCm39)	D81G	probably damaging	Het
Vmn1r215	T	A	13: 23,260,848 (GRCm39)	V296D	probably benign	Het
Vmn1r6	T	A	6: 56,979,607 (GRCm39)	S90T	probably damaging	Het
Wbp2	A	G	11: 115,974,709 (GRCm39)	F42L	probably benign	Het
Wdr20rt	C	T	12: 65,274,055 (GRCm39)	T333I	possibly damaging	Het
Zfp341	C	T	2: 154,483,298 (GRCm39)	A552V	probably benign	Het
Zfp607b	A	T	7: 27,391,949 (GRCm39)	H8L	possibly damaging	Het
Zfp758	G	T	17: 22,594,830 (GRCm39)	D439Y	probably damaging	Het
Zfp946	T	C	17: 22,672,538 (GRCm39)	Y46H	probably damaging	Het
Zic2	G	A	14: 122,716,359 (GRCm39)	E432K	probably 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
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
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'- CAGCGAACCCCATGTGTTCTATCC -3'
(R):5'- TCATCCTCTTGGAGAAAGAACTGCAAC -3'

Sequencing Primer
(F):5'- CACGCTTTCTTCTCAGCCAG -3'
(R):5'- CCTTCCTCAATAGTGGGGGTC -3'

Posted On

2014-05-23