Mutagenetix > Incidental Mutation

Incidental Mutation 'R4824:Slc4a2'

374201

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

042440-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.538) question?

Stock #

R4824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24628939-24645945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24645141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1104 (F1104L)

Ref Sequence

ENSEMBL: ENSMUSP00000110699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030800] [ENSMUST00000080067] [ENSMUST00000115041] [ENSMUST00000115043] [ENSMUST00000115047] [ENSMUST00000115049] [ENSMUST00000144389]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030800

SMART Domains

Protein: ENSMUSP00000030800
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	274	340	7.4e-18	PFAM
Pfam:FAST_2	351	440	5e-20	PFAM
RAP	475	532	3.04e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000080067
AA Change: F1118L

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

SMART Domains

Protein: ENSMUSP00000078972
Gene: ENSMUSG00000028962
AA Change: F1118L

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: ENSMUST00000115041

SMART Domains

Protein: ENSMUSP00000110693
Gene: ENSMUSG00000028959

Domain	Start	End	E-Value	Type
low complexity region	43	57	N/A	INTRINSIC
low complexity region	101	112	N/A	INTRINSIC
Pfam:FAST_1	136	204	5.4e-24	PFAM
Pfam:FAST_2	212	303	4.7e-26	PFAM
RAP	338	395	3.04e-10	SMART

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: F1104L

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

SMART Domains

Protein: ENSMUSP00000110699
Gene: ENSMUSG00000028962
AA Change: F1104L

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: F1109L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110701
Gene: ENSMUSG00000028962
AA Change: F1109L

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: ENSMUST00000123144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139307

Predicted Effect

probably benign
Transcript: ENSMUST00000144389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198786

Meta Mutation Damage Score

0.9614

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (123/126)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,437 (GRCm39)	T209A	probably benign	Het
1700086D15Rik	T	C	11: 65,043,441 (GRCm39)		probably benign	Het
A130010J15Rik	G	A	1: 192,856,965 (GRCm39)	V106I	probably benign	Het
Abca16	C	A	7: 120,074,702 (GRCm39)	N580K	possibly damaging	Het
Actrt2	A	T	4: 154,751,344 (GRCm39)	F264Y	probably damaging	Het
Adh4	G	A	3: 138,134,807 (GRCm39)	S327N	possibly damaging	Het
Alkbh5	T	C	11: 60,444,697 (GRCm39)		probably null	Het
Anapc1	T	A	2: 128,470,610 (GRCm39)	T1507S	possibly damaging	Het
Anapc2	A	G	2: 25,167,764 (GRCm39)	R444G	probably damaging	Het
Apoh	G	T	11: 108,305,087 (GRCm39)	W335L	probably benign	Het
B4galt7	A	T	13: 55,752,162 (GRCm39)	H71L	possibly damaging	Het
Bicd2	A	G	13: 49,532,488 (GRCm39)	E358G	probably damaging	Het
Bmper	T	A	9: 23,134,956 (GRCm39)	V7D	possibly damaging	Het
Brca2	T	C	5: 150,463,200 (GRCm39)	F988S	probably damaging	Het
Brix1	A	G	15: 10,485,828 (GRCm39)	V49A	possibly damaging	Het
Brpf3	T	C	17: 29,025,460 (GRCm39)	S178P	probably benign	Het
Btaf1	A	G	19: 36,958,448 (GRCm39)	Y655C	possibly damaging	Het
C1rl	C	G	6: 124,486,040 (GRCm39)	Y470*	probably null	Het
Cacnb4	A	G	2: 52,565,822 (GRCm39)	V21A	probably benign	Het
Caskin1	C	A	17: 24,720,103 (GRCm39)	P437T	probably benign	Het
Casz1	C	A	4: 149,029,028 (GRCm39)	P1158T	probably damaging	Het
Ccdc141	T	A	2: 76,954,680 (GRCm39)	Q189L	probably damaging	Het
Ccr3	T	C	9: 123,828,809 (GRCm39)	V48A	probably damaging	Het
Cebpd	G	A	16: 15,705,978 (GRCm39)	G264S	probably benign	Het
Cert1	C	T	13: 96,752,995 (GRCm39)	P350S	probably benign	Het
Cfap20dc	A	T	14: 8,665,997 (GRCm38)	M1K	probably null	Het
Chd1	C	A	17: 15,953,386 (GRCm39)	S440R	probably damaging	Het
Clip1	T	A	5: 123,769,086 (GRCm39)	E504D	probably damaging	Het
Cmya5	T	C	13: 93,230,082 (GRCm39)	R1669G	probably benign	Het
Col11a2	T	A	17: 34,269,937 (GRCm39)	F456I	probably damaging	Het
Ctnna2	A	T	6: 76,957,764 (GRCm39)	M130K	probably damaging	Het
Elmo2	A	T	2: 165,133,922 (GRCm39)		probably benign	Het
F11	T	C	8: 45,708,379 (GRCm39)	D27G	probably damaging	Het
Faap100	A	T	11: 120,266,412 (GRCm39)		probably null	Het
Fat1	A	G	8: 45,442,151 (GRCm39)	E1151G	probably damaging	Het
Fbll1	T	A	11: 35,688,652 (GRCm39)	I204F	probably damaging	Het
Gle1	T	A	2: 29,830,215 (GRCm39)	V257D	possibly damaging	Het
Hoxc9	T	A	15: 102,890,225 (GRCm39)	C47*	probably null	Het
Hsd17b6	A	G	10: 127,829,524 (GRCm39)	V226A	probably benign	Het
Hsd17b7	C	T	1: 169,788,764 (GRCm39)	R151Q	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ido2	A	G	8: 25,023,875 (GRCm39)	I321T	probably benign	Het
Irf2bp2	T	C	8: 127,318,172 (GRCm39)	T465A	probably benign	Het
Kdm2a	A	G	19: 4,412,815 (GRCm39)	M34T	probably damaging	Het
Klhl6	C	T	16: 19,775,778 (GRCm39)	R260H	probably damaging	Het
Kntc1	T	A	5: 123,928,196 (GRCm39)	L1231*	probably null	Het
Lca5l	A	C	16: 95,963,229 (GRCm39)	Y412*	probably null	Het
Lipt1	T	C	1: 37,914,513 (GRCm39)	S190P	possibly damaging	Het
Ly6f	T	A	15: 75,143,569 (GRCm39)	V92D	probably damaging	Het
Matn4	T	A	2: 164,235,151 (GRCm39)	M433L	probably benign	Het
Mbtd1	C	A	11: 93,816,528 (GRCm39)	P370T	probably benign	Het
Mcph1	T	A	8: 18,682,703 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,417,922 (GRCm39)	C3623S	probably damaging	Het
Myt1l	C	A	12: 29,899,399 (GRCm39)	H134N	probably benign	Het
Nav2	A	T	7: 49,058,749 (GRCm39)		probably benign	Het
Ndufaf8	T	C	11: 119,989,992 (GRCm39)	C35R	probably damaging	Het
Neb	G	A	2: 52,094,891 (GRCm39)	T5130I	possibly damaging	Het
Nlrp9c	T	C	7: 26,079,989 (GRCm39)	N624S	possibly damaging	Het
Nr0b2	C	A	4: 133,283,334 (GRCm39)	H190Q	probably damaging	Het
Nrg4	A	G	9: 55,156,405 (GRCm39)		probably benign	Het
Nup88	A	T	11: 70,852,450 (GRCm39)	V215E	probably benign	Het
Oas2	T	G	5: 120,876,411 (GRCm39)	T511P	probably benign	Het
Or1e25	A	G	11: 73,493,426 (GRCm39)	T7A	possibly damaging	Het
Or2t6	A	G	14: 14,175,885 (GRCm38)	S66P	probably damaging	Het
Or5d14	A	C	2: 87,880,432 (GRCm39)	F179V	probably damaging	Het
Or5w8	T	C	2: 87,687,621 (GRCm39)	V34A	probably benign	Het
Or8g26	A	G	9: 39,095,501 (GRCm39)	N9S	probably benign	Het
Or9q1	A	C	19: 13,805,718 (GRCm39)	L14R	probably damaging	Het
Pcdhgb2	T	A	18: 37,823,502 (GRCm39)	N164K	probably damaging	Het
Pde4d	C	G	13: 109,253,400 (GRCm39)	P76A	probably benign	Het
Phlda1	T	C	10: 111,343,516 (GRCm39)		probably benign	Het
Plekhh1	A	G	12: 79,101,577 (GRCm39)	T216A	probably benign	Het
Plppr3	T	A	10: 79,701,507 (GRCm39)	E445V	possibly damaging	Het
Prom1	A	G	5: 44,191,732 (GRCm39)	V337A	probably damaging	Het
Prr14l	T	C	5: 33,001,743 (GRCm39)		probably benign	Het
Psmd1	A	G	1: 86,064,820 (GRCm39)	I951V	probably benign	Het
Rab35	T	G	5: 115,781,454 (GRCm39)	I85M	possibly damaging	Het
Rad9a	A	T	19: 4,250,536 (GRCm39)	S93T	probably benign	Het
Ric1	G	A	19: 29,563,242 (GRCm39)	C555Y	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ror2	T	A	13: 53,264,719 (GRCm39)	Q791L	probably benign	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Sdr16c5	C	T	4: 4,016,216 (GRCm39)	W70*	probably null	Het
Senp3	A	G	11: 69,568,821 (GRCm39)	V408A	probably benign	Het
Sh2d4b	C	A	14: 40,562,301 (GRCm39)	W288L	probably benign	Het
Slc38a9	A	T	13: 112,859,832 (GRCm39)	D422V	probably damaging	Het
Slc4a3	A	G	1: 75,527,267 (GRCm39)	K113E	possibly damaging	Het
Spata3	G	A	1: 85,952,048 (GRCm39)		probably null	Het
Spata31d1d	A	T	13: 59,877,055 (GRCm39)	V160E	possibly damaging	Het
Sprr2f	A	G	3: 92,273,203 (GRCm39)	M1V	probably null	Het
Sptbn1	A	G	11: 30,068,295 (GRCm39)	V1733A	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tardbp	A	G	4: 148,702,050 (GRCm39)	I295T	probably benign	Het
Tmem212	A	G	3: 27,939,157 (GRCm39)	S110P	probably damaging	Het
Tnc	G	A	4: 63,935,857 (GRCm39)	Q360*	probably null	Het
Tnrc6c	C	A	11: 117,613,731 (GRCm39)	Q630K	probably damaging	Het
Ttc19	G	A	11: 62,199,922 (GRCm39)	R235H	probably benign	Het
Ube3b	T	A	5: 114,553,787 (GRCm39)		probably null	Het
Vmn2r31	C	T	7: 7,390,062 (GRCm39)		probably null	Het
Vmn2r92	T	A	17: 18,372,183 (GRCm39)		probably benign	Het
Washc5	A	T	15: 59,205,485 (GRCm39)	Y685*	probably null	Het
Wdr93	T	A	7: 79,399,817 (GRCm39)	Y135*	probably null	Het
Wdr95	T	A	5: 149,518,797 (GRCm39)	I546K	probably damaging	Het
Zbtb38	T	A	9: 96,570,254 (GRCm39)	T277S	probably benign	Het
Zfp13	T	C	17: 23,795,797 (GRCm39)	D258G	possibly damaging	Het
Zfp397	T	A	18: 24,093,249 (GRCm39)	S245T	probably benign	Het
Zfp646	T	C	7: 127,482,907 (GRCm39)	Y1695H	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
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'- TGTCATGAGCAAGGCTGTGG -3'
(R):5'- GAGAATTTCCAGACCTCCTCTG -3'

Sequencing Primer
(F):5'- TGTGGCACCTGGGGACAAAC -3'
(R):5'- AGACCTCCTCTGTACAGGCTG -3'

Posted On

2016-03-01