Incidental Mutation 'R1794:Slc4a2'
ID 202032
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 039824-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.505) question?
Stock # R1794 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 24628939-24645945 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24644326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 975 (M975V)
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

DomainStartEndE-ValueType
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: M989V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078972
Gene: ENSMUSG00000028962
AA Change: M989V

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: M975V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110699
Gene: ENSMUSG00000028962
AA Change: M975V

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000115049
AA Change: M980V

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110701
Gene: ENSMUSG00000028962
AA Change: M980V

DomainStartEndE-ValueType
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: ENSMUST00000130577
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132109
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140722
Predicted Effect probably benign
Transcript: ENSMUST00000144389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198786
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.8%
  • 20x: 91.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa7 A G 14: 20,521,535 (GRCm39) Y54H unknown Het
Arhgef3 A G 14: 27,119,562 (GRCm39) T331A probably benign Het
Arhgef40 G T 14: 52,227,387 (GRCm39) C477F possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp13a5 C A 16: 29,140,527 (GRCm39) R343L probably damaging Het
Brdt ACAGCAGCAGCAGCAGC ACAGCAGCAGCAGC 5: 107,507,719 (GRCm39) probably benign Het
Btbd2 G T 10: 80,479,747 (GRCm39) D426E probably damaging Het
Cabin1 A C 10: 75,561,579 (GRCm39) I974R possibly damaging Het
Cacna1i G A 15: 80,273,323 (GRCm39) V1670M probably damaging Het
Cc2d2a C A 5: 43,845,594 (GRCm39) Q288K probably damaging Het
Ccl20 T A 1: 83,095,550 (GRCm39) I37K possibly damaging Het
Cdcp1 A G 9: 123,019,159 (GRCm39) V40A probably benign Het
Cdcp1 T C 9: 123,044,896 (GRCm39) T27A probably benign Het
Cdh4 C T 2: 179,528,635 (GRCm39) T581I probably damaging Het
Cgn A G 3: 94,669,864 (GRCm39) probably null Het
Col7a1 G A 9: 108,794,996 (GRCm39) G1493D unknown Het
Creb3 A G 4: 43,563,302 (GRCm39) E133G probably benign Het
Dchs1 T C 7: 105,420,927 (GRCm39) T498A probably benign Het
Dis3l A C 9: 64,225,058 (GRCm39) V413G possibly damaging Het
Dnah6 T C 6: 73,001,941 (GRCm39) E3865G probably damaging Het
Fam219b A G 9: 57,446,564 (GRCm39) Y139C probably damaging Het
Fat3 A T 9: 15,908,432 (GRCm39) Y2523* probably null Het
Fat3 A T 9: 15,908,434 (GRCm39) Y2523N probably benign Het
Fmnl1 T C 11: 103,087,973 (GRCm39) S40P probably benign Het
Gm4792 T C 10: 94,134,352 (GRCm39) D6G unknown Het
Hhat G T 1: 192,376,214 (GRCm39) Y306* probably null Het
Hmcn1 A G 1: 150,474,036 (GRCm39) I4802T probably benign Het
Hmcn1 G A 1: 150,502,903 (GRCm39) T3908I probably damaging Het
Hsph1 A T 5: 149,554,238 (GRCm39) N79K probably damaging Het
Ikbke T A 1: 131,186,955 (GRCm39) Y579F probably damaging Het
Jak2 A G 19: 29,276,957 (GRCm39) D838G probably benign Het
Klhdc7b T C 15: 89,271,223 (GRCm39) S702P probably benign Het
Lingo3 C A 10: 80,671,432 (GRCm39) R166L probably benign Het
Lins1 T C 7: 66,361,657 (GRCm39) F436S probably damaging Het
Lman1 T C 18: 66,124,755 (GRCm39) D328G probably benign Het
Lox A G 18: 52,661,379 (GRCm39) C232R probably damaging Het
Lrrc59 T C 11: 94,529,421 (GRCm39) V165A probably benign Het
Map9 A G 3: 82,287,528 (GRCm39) D50G probably damaging Het
Marchf1 T A 8: 66,839,594 (GRCm39) Y126N possibly damaging Het
Mcf2l T C 8: 12,965,982 (GRCm39) F3L probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nin G A 12: 70,090,569 (GRCm39) Q949* probably null Het
Nlgn3 A G X: 100,363,639 (GRCm39) H636R probably benign Het
Notch2 A G 3: 98,006,863 (GRCm39) D411G possibly damaging Het
Or4c52 A G 2: 89,845,364 (GRCm39) Y30C probably damaging Het
Or5b24 G C 19: 12,912,332 (GRCm39) A77P probably damaging Het
Pate7 T A 9: 35,688,418 (GRCm39) I56F probably benign Het
Plekha7 A G 7: 115,739,916 (GRCm39) V579A probably damaging Het
Prrc2c T C 1: 162,533,528 (GRCm39) probably benign Het
Rab7b T C 1: 131,624,806 (GRCm39) probably null Het
Reg3b G T 6: 78,349,197 (GRCm39) probably null Het
Rgs20 A G 1: 4,980,795 (GRCm39) Y177H probably damaging Het
Ripk3 G T 14: 56,022,786 (GRCm39) N379K probably benign Het
Rnf220 G T 4: 117,164,765 (GRCm39) Q7K probably benign Het
Ros1 T A 10: 52,000,199 (GRCm39) K1109* probably null Het
Slc22a7 T G 17: 46,744,079 (GRCm39) R460S probably damaging Het
Slc4a3 A T 1: 75,533,952 (GRCm39) I1100F probably damaging Het
Smco1 A G 16: 32,092,950 (GRCm39) E207G probably benign Het
Snrnp200 A G 2: 127,058,656 (GRCm39) E369G probably benign Het
Spata31d1e T C 13: 59,890,434 (GRCm39) E44G probably benign Het
Tcf4 T A 18: 69,790,924 (GRCm39) M178K probably benign Het
Tex2 T C 11: 106,458,728 (GRCm39) probably benign Het
Tjp1 A T 7: 64,972,877 (GRCm39) I521N probably damaging Het
Tmem203 A G 2: 25,146,006 (GRCm39) T109A probably benign Het
Tmem50b T C 16: 91,374,917 (GRCm39) I126V probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a T C 1: 188,595,006 (GRCm39) F3813L probably benign Het
Vmn1r203 C T 13: 22,708,521 (GRCm39) R101W probably damaging Het
Vmn2r79 G A 7: 86,650,621 (GRCm39) V136I probably benign Het
Wdr38 A G 2: 38,890,741 (GRCm39) Y205C probably damaging Het
Zfp248 A G 6: 118,406,264 (GRCm39) F442L probably damaging Het
Znrf4 A G 17: 56,818,599 (GRCm39) I236T probably damaging Het
Other mutations in Slc4a2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTGAGGACACCTACACCCAG -3'
(R):5'- GCTAACATCAGTGACGTTTCTG -3'

Sequencing Primer
(F):5'- TAAGGCATGGGCTGTTTCCAC -3'
(R):5'- GACGTTTCTGTTACCTGGAAAAG -3'
Posted On 2014-06-23