Mutagenetix > Incidental Mutation

Incidental Mutation 'R9430:Slc4a2'

712869

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.505) question?

Stock #

R9430 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24628939-24645945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24636317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 230 (N230S)

Ref Sequence

ENSEMBL: ENSMUSP00000078972 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000080067
AA Change: N230S

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000078972
Gene: ENSMUSG00000028962
AA Change: N230S

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: N216S

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110699
Gene: ENSMUSG00000028962
AA Change: N216S

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: N221S

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110701
Gene: ENSMUSG00000028962
AA Change: N221S

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

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

probably benign
Transcript: ENSMUST00000153274

Predicted Effect

probably benign
Transcript: ENSMUST00000155598

SMART Domains

Protein: ENSMUSP00000118473
Gene: ENSMUSG00000028962

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	C	1: 59,231,198 (GRCm39)	N804K	probably benign	Het
Arid5b	C	A	10: 68,022,087 (GRCm39)		probably null	Het
Brd2	T	C	17: 34,331,610 (GRCm39)	D779G	unknown	Het
Brox	A	T	1: 183,069,353 (GRCm39)	V118E	probably damaging	Het
Ccdc137	A	T	11: 120,349,530 (GRCm39)	E76V	probably damaging	Het
Ccdc150	A	G	1: 54,320,930 (GRCm39)	K327E	probably damaging	Het
Ccdc171	A	G	4: 83,522,362 (GRCm39)	E342G	probably damaging	Het
Cd109	G	A	9: 78,574,698 (GRCm39)		probably null	Het
Cep85	C	A	4: 133,894,665 (GRCm39)	R47L	probably damaging	Het
Cgrrf1	T	A	14: 47,091,331 (GRCm39)	V285E	probably damaging	Het
Ctu1	T	C	7: 43,326,042 (GRCm39)	S234P	probably damaging	Het
Dnah3	G	A	7: 119,628,205 (GRCm39)	T1484I	probably damaging	Het
Dusp16	G	T	6: 134,737,829 (GRCm39)	Q70K	probably damaging	Het
Eri3	T	G	4: 117,439,868 (GRCm39)	Y187*	probably null	Het
Evi2a	T	A	11: 79,418,523 (GRCm39)	Y29F	possibly damaging	Het
Ext2	A	G	2: 93,592,999 (GRCm39)	S402P	possibly damaging	Het
Fam76a	T	A	4: 132,645,055 (GRCm39)	Q60L	probably damaging	Het
Fat3	T	C	9: 16,287,381 (GRCm39)	N714S	probably damaging	Het
Fbxw24	T	A	9: 109,439,038 (GRCm39)	N179I	probably damaging	Het
Fras1	A	G	5: 96,929,251 (GRCm39)	N3885S	probably benign	Het
Grip2	A	T	6: 91,784,265 (GRCm39)	V12E	probably benign	Het
Gse1	A	T	8: 121,299,049 (GRCm39)	Y766F	unknown	Het
Herc1	C	T	9: 66,325,785 (GRCm39)	Q1420*	probably null	Het
Htr1f	T	A	16: 64,746,831 (GRCm39)	I154F	probably damaging	Het
Hus1b	G	T	13: 31,131,587 (GRCm39)	A24E	probably damaging	Het
Igkv17-127	A	G	6: 67,838,441 (GRCm39)	I51V	probably damaging	Het
Ilk	G	T	7: 105,390,072 (GRCm39)	R149L	probably benign	Het
Inpp5b	T	A	4: 124,636,340 (GRCm39)	V5E	possibly damaging	Het
Jak2	A	T	19: 29,265,367 (GRCm39)	S465C	possibly damaging	Het
Kif23	T	C	9: 61,834,722 (GRCm39)	T394A	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,921,802 (GRCm39)	D441G	probably null	Het
Ldhd	A	G	8: 112,356,680 (GRCm39)	L27P	possibly damaging	Het
Lingo1	A	G	9: 56,527,512 (GRCm39)	I365T	probably benign	Het
Lyz2	C	A	10: 117,118,077 (GRCm39)	C24F	possibly damaging	Het
Map1b	T	A	13: 99,570,616 (GRCm39)	T702S	unknown	Het
Map4	T	A	9: 109,863,760 (GRCm39)	D328E	probably benign	Het
Matn1	C	T	4: 130,673,278 (GRCm39)	T82M	probably damaging	Het
Mfrp	T	C	9: 44,014,570 (GRCm39)	V239A	probably damaging	Het
Misp	G	T	10: 79,661,675 (GRCm39)	V31F	probably benign	Het
Muc5ac	C	T	7: 141,362,569 (GRCm39)	T1960I	unknown	Het
Myh2	T	A	11: 67,070,359 (GRCm39)	M434K	probably benign	Het
Myh3	T	A	11: 66,982,726 (GRCm39)	I815N	possibly damaging	Het
Myo18a	A	G	11: 77,709,410 (GRCm39)	M507V	possibly damaging	Het
Nbas	T	A	12: 13,371,654 (GRCm39)	S385T	probably benign	Het
Nepro	G	A	16: 44,552,460 (GRCm39)	R319K	possibly damaging	Het
Nlrc3	A	T	16: 3,783,396 (GRCm39)	C53S	probably benign	Het
Nudt17	A	G	3: 96,614,224 (GRCm39)		probably null	Het
Nwd2	T	G	5: 63,964,665 (GRCm39)	C1416W	probably damaging	Het
Ocln	A	C	13: 100,676,356 (GRCm39)	F46V	possibly damaging	Het
Or52n3	A	T	7: 104,530,204 (GRCm39)	N97Y	possibly damaging	Het
Or5be3	A	T	2: 86,864,253 (GRCm39)	V104D	probably damaging	Het
Osbpl5	T	C	7: 143,263,526 (GRCm39)	K119R	probably benign	Het
Paf1	T	G	7: 28,096,331 (GRCm39)	F315V	possibly damaging	Het
Parp4	T	A	14: 56,866,673 (GRCm39)	V1079D	probably damaging	Het
Pcgf6	C	T	19: 47,039,219 (GRCm39)	A14T	unknown	Het
Plcxd1	A	G	5: 110,251,368 (GRCm39)	T315A	probably benign	Het
Plxnc1	A	G	10: 94,758,544 (GRCm39)	V384A	probably benign	Het
Polm	G	A	11: 5,784,749 (GRCm39)	T236I	probably damaging	Het
Prl7d1	T	C	13: 27,898,360 (GRCm39)	T50A	possibly damaging	Het
Reln	T	C	5: 22,120,105 (GRCm39)	D2849G	probably damaging	Het
Sec16b	C	T	1: 157,394,894 (GRCm39)	R1045C	probably damaging	Het
Six4	A	G	12: 73,150,719 (GRCm39)	S609P	possibly damaging	Het
Slc25a31	A	T	3: 40,679,297 (GRCm39)		probably null	Het
Sorcs1	T	C	19: 50,199,208 (GRCm39)	Y785C	probably damaging	Het
Styxl1	A	G	5: 135,784,259 (GRCm39)		probably null	Het
Synm	C	T	7: 67,383,181 (GRCm39)	V1494M	possibly damaging	Het
Taf7l2	A	T	10: 115,949,282 (GRCm39)	D81E	probably damaging	Het
Tamm41	A	G	6: 114,993,063 (GRCm39)	M230T	probably benign	Het
Tbc1d12	T	G	19: 38,884,490 (GRCm39)	M347R	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tm4sf1	A	C	3: 57,197,214 (GRCm39)	S164A	probably damaging	Het
Trim67	A	G	8: 125,552,956 (GRCm39)	H686R	probably damaging	Het
Trpm1	T	C	7: 63,873,446 (GRCm39)	L567P	probably benign	Het
Tsfm	A	G	10: 126,858,771 (GRCm39)	L198P	probably damaging	Het
Ttc6	A	T	12: 57,733,193 (GRCm39)	D1112V	probably damaging	Het
Ttn	A	G	2: 76,601,922 (GRCm39)	V18580A	probably benign	Het
Ubr1	C	A	2: 120,734,506 (GRCm39)	Q1131H	possibly damaging	Het
Uhrf2	C	T	19: 30,016,659 (GRCm39)	R117C	probably benign	Het
Vmn2r70	A	G	7: 85,215,240 (GRCm39)	V98A	probably benign	Het
Zfp799	T	C	17: 33,039,186 (GRCm39)	E360G	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
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
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'- TTCAGATACTGGCTGTGGGC -3'
(R):5'- TCATCCTGTGTCCCACCAAG -3'

Sequencing Primer
(F):5'- GTCAGAGCCTGTCTTCCCATATG -3'
(R):5'- TGTGTCCCACCAAGGATGAG -3'

Posted On

2022-05-16