Incidental Mutation 'R0309:Slc4a2'
ID 25047
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 038519-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.538) question?
Stock # R0309 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 24628939-24645945 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 24639344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 413 (S413I)
Ref Sequence ENSEMBL: ENSMUSP00000110699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080067] [ENSMUST00000115043] [ENSMUST00000115047] [ENSMUST00000115049] [ENSMUST00000141966] [ENSMUST00000155598]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000080067
AA Change: S427I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000078972
Gene: ENSMUSG00000028962
AA Change: S427I

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: 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: S413I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110699
Gene: ENSMUSG00000028962
AA Change: S413I

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: S418I

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110701
Gene: ENSMUSG00000028962
AA Change: S418I

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: ENSMUST00000127315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155636
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146765
Predicted Effect probably benign
Transcript: ENSMUST00000141966
SMART Domains Protein: ENSMUSP00000117215
Gene: ENSMUSG00000028962

DomainStartEndE-ValueType
low complexity region 93 110 N/A INTRINSIC
low complexity region 113 129 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155598
SMART Domains Protein: ENSMUSP00000118473
Gene: ENSMUSG00000028962

DomainStartEndE-ValueType
low complexity region 93 110 N/A INTRINSIC
Meta Mutation Damage Score 0.1932 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.6%
  • 10x: 94.3%
  • 20x: 86.4%
Validation Efficiency 98% (125/127)
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: 126 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,266,271 (GRCm39) D133G possibly damaging Het
Abcb4 A C 5: 8,989,835 (GRCm39) D796A probably damaging Het
Actg2 A T 6: 83,496,896 (GRCm39) V147E probably damaging Het
Adamts13 A C 2: 26,877,001 (GRCm39) T534P probably damaging Het
Ago1 T C 4: 126,336,959 (GRCm39) T249A probably benign Het
Ahnak T A 19: 8,979,859 (GRCm39) I381N probably damaging Het
Akap9 A G 5: 4,119,038 (GRCm39) D3515G probably benign Het
Angptl3 T C 4: 98,922,706 (GRCm39) V249A probably benign Het
Ank A G 15: 27,567,658 (GRCm39) T294A possibly damaging Het
Ank1 A T 8: 23,594,825 (GRCm39) H204L probably damaging Het
Apbb2 A G 5: 66,468,331 (GRCm39) probably benign Het
Arhgap28 A T 17: 68,208,424 (GRCm39) S15T probably benign Het
Aspm T C 1: 139,410,249 (GRCm39) probably benign Het
Atp1a4 T C 1: 172,062,554 (GRCm39) E651G probably damaging Het
B3gnt2 A T 11: 22,786,860 (GRCm39) F109L probably damaging Het
Bpifb4 T C 2: 153,801,603 (GRCm39) F575L probably damaging Het
Calhm4 A G 10: 33,920,043 (GRCm39) W75R probably damaging Het
Calr C A 8: 85,569,660 (GRCm39) K322N probably benign Het
Ccdc188 T C 16: 18,037,169 (GRCm39) S247P possibly damaging Het
Cdr1 T A X: 60,228,908 (GRCm39) D86V unknown Het
Cep97 C T 16: 55,745,421 (GRCm39) V48I probably damaging Het
Chaf1b T A 16: 93,681,399 (GRCm39) C6S probably damaging Het
Chd3 C T 11: 69,247,844 (GRCm39) D920N probably damaging Het
Clk1 T C 1: 58,452,192 (GRCm39) probably benign Het
Cntnap3 T A 13: 64,905,250 (GRCm39) probably benign Het
Col12a1 T A 9: 79,507,293 (GRCm39) probably null Het
Col17a1 G T 19: 47,659,801 (GRCm39) probably benign Het
Coq7 T A 7: 118,128,940 (GRCm39) I32F possibly damaging Het
Cox6a2 A T 7: 127,805,107 (GRCm39) F59I probably damaging Het
Cpq A G 15: 33,594,297 (GRCm39) D436G probably damaging Het
Ctso G A 3: 81,852,168 (GRCm39) probably null Het
Cxadr A T 16: 78,131,836 (GRCm39) H274L probably benign Het
Cyp2c40 A T 19: 39,766,495 (GRCm39) C367S possibly damaging Het
Cyp2c70 T G 19: 40,149,115 (GRCm39) M344L possibly damaging Het
Defa35 G A 8: 21,555,871 (GRCm39) V77I probably benign Het
Dhx57 A G 17: 80,582,310 (GRCm39) Y432H probably damaging Het
Dhx9 A T 1: 153,341,441 (GRCm39) D601E probably benign Het
Dnah7a C G 1: 53,444,849 (GRCm39) D3952H probably damaging Het
Dnah9 C A 11: 65,917,798 (GRCm39) probably benign Het
Dstyk C A 1: 132,384,602 (GRCm39) probably benign Het
Efcab2 T A 1: 178,303,469 (GRCm39) probably benign Het
Ehbp1l1 T C 19: 5,770,598 (GRCm39) E287G possibly damaging Het
Epgn A G 5: 91,180,073 (GRCm39) T87A probably benign Het
Erc2 A C 14: 27,863,182 (GRCm39) E803A probably damaging Het
Fer A G 17: 64,446,011 (GRCm39) *454W probably null Het
Glyr1 T C 16: 4,849,836 (GRCm39) D179G probably damaging Het
Gm12830 T A 4: 114,702,173 (GRCm39) probably benign Het
Gm9922 C A 14: 101,967,129 (GRCm39) probably benign Het
Gsta3 C T 1: 21,335,118 (GRCm39) P200S possibly damaging Het
Hmgxb3 G A 18: 61,288,200 (GRCm39) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il16 T C 7: 83,371,762 (GRCm39) K15E probably damaging Het
Kcnip2 T A 19: 45,782,514 (GRCm39) probably benign Het
Kdm4c T C 4: 74,263,804 (GRCm39) V696A probably benign Het
Kdr A G 5: 76,107,587 (GRCm39) probably benign Het
Klhl33 T G 14: 51,128,868 (GRCm39) H787P probably damaging Het
Klk14 A T 7: 43,343,769 (GRCm39) T159S probably benign Het
Lancl2 A G 6: 57,680,117 (GRCm39) N16D probably damaging Het
Lemd3 T C 10: 120,773,015 (GRCm39) N583S possibly damaging Het
Map3k4 TGCTGGCTTCAGGGCCACAGTCCGCTG TGCTG 17: 12,489,902 (GRCm39) probably null Het
Mpl T G 4: 118,303,235 (GRCm39) probably benign Het
Myh7b T C 2: 155,472,592 (GRCm39) probably benign Het
Mylk A C 16: 34,732,667 (GRCm39) probably benign Het
Myof A T 19: 37,969,714 (GRCm39) M316K probably benign Het
Nfib T A 4: 82,214,974 (GRCm39) N543I probably damaging Het
Nfix A G 8: 85,448,403 (GRCm39) S375P probably damaging Het
Nkrf T C X: 36,153,769 (GRCm39) Q171R probably damaging Het
Nmnat2 T A 1: 152,952,747 (GRCm39) probably benign Het
Npffr2 G A 5: 89,731,206 (GRCm39) E379K probably benign Het
Npr2 T C 4: 43,640,904 (GRCm39) probably benign Het
Nup98 A C 7: 101,801,635 (GRCm39) D212E probably null Het
Nwd2 T C 5: 63,964,561 (GRCm39) Y1382H probably damaging Het
Ocstamp T C 2: 165,237,912 (GRCm39) R451G possibly damaging Het
Or52s1 T A 7: 102,861,928 (GRCm39) I287K probably damaging Het
Or6c6c A G 10: 129,541,008 (GRCm39) D87G probably benign Het
Pabpc1 C T 15: 36,597,737 (GRCm39) A551T possibly damaging Het
Pard3 A T 8: 128,103,378 (GRCm39) probably benign Het
Pcdhb12 G T 18: 37,569,174 (GRCm39) V107L probably benign Het
Pik3cd A T 4: 149,747,677 (GRCm39) V22D probably damaging Het
Pkd1l2 A G 8: 117,724,315 (GRCm39) V2396A probably damaging Het
Pnpla7 T C 2: 24,877,207 (GRCm39) I167T probably damaging Het
Pphln1 A T 15: 93,339,588 (GRCm39) H114L possibly damaging Het
Ppm1h A G 10: 122,756,687 (GRCm39) N444S probably damaging Het
Prdm9 G A 17: 15,777,646 (GRCm39) T146I probably damaging Het
Prrc2a A G 17: 35,369,891 (GRCm39) probably benign Het
Prrx1 T C 1: 163,140,128 (GRCm39) D26G possibly damaging Het
Ptpn5 T C 7: 46,729,042 (GRCm39) E495G probably damaging Het
Rab23 A C 1: 33,773,942 (GRCm39) probably null Het
Ralgps1 C T 2: 33,047,935 (GRCm39) M348I probably benign Het
Ranbp2 A G 10: 58,315,690 (GRCm39) T2137A probably benign Het
Rapgef4 G T 2: 72,056,374 (GRCm39) G654V probably benign Het
Rc3h2 A T 2: 37,269,020 (GRCm39) probably benign Het
Reg2 G A 6: 78,383,169 (GRCm39) A39T possibly damaging Het
Sema4d C A 13: 51,879,347 (GRCm39) V7F probably benign Het
Sgip1 T C 4: 102,772,354 (GRCm39) probably benign Het
Sgpl1 C T 10: 60,949,216 (GRCm39) probably null Het
Shisa9 G A 16: 11,814,987 (GRCm39) V212M probably damaging Het
Shq1 G A 6: 100,550,588 (GRCm39) P450L probably benign Het
Sin3a A G 9: 57,018,196 (GRCm39) T872A probably benign Het
Sipa1l3 C T 7: 29,047,775 (GRCm39) R1371Q probably benign Het
Skint8 T C 4: 111,796,064 (GRCm39) V246A probably benign Het
Slc22a20 A T 19: 6,022,985 (GRCm39) V386D probably damaging Het
Slc28a2b A T 2: 122,348,034 (GRCm39) T253S probably benign Het
Slc2a7 G A 4: 150,242,528 (GRCm39) probably benign Het
Slc35a2 T A X: 7,755,901 (GRCm39) Y48N probably damaging Het
Sntg2 T C 12: 30,276,772 (GRCm39) T427A probably benign Het
Soat1 T C 1: 156,270,023 (GRCm39) Y132C probably damaging Het
Stn1 G T 19: 47,490,112 (GRCm39) H342N probably benign Het
Tarbp1 T A 8: 127,165,667 (GRCm39) probably benign Het
Tas2r113 A C 6: 132,870,341 (GRCm39) K123T probably damaging Het
Tbck C T 3: 132,440,168 (GRCm39) Q504* probably null Het
Tenm3 C T 8: 48,794,069 (GRCm39) C380Y probably damaging Het
Tent4a A T 13: 69,648,051 (GRCm39) V781E possibly damaging Het
Triobp A G 15: 78,860,740 (GRCm39) D1389G probably damaging Het
Trpm4 A T 7: 44,958,130 (GRCm39) F780I probably damaging Het
Tubb4a G T 17: 57,388,182 (GRCm39) Y281* probably null Het
Txndc15 T C 13: 55,872,395 (GRCm39) F261S probably damaging Het
Ube3b T C 5: 114,557,530 (GRCm39) probably benign Het
Unc5c G C 3: 141,439,694 (GRCm39) V196L probably benign Het
Upf3a G A 8: 13,845,500 (GRCm39) probably null Het
Vmn2r20 T C 6: 123,363,063 (GRCm39) K574E probably benign Het
Vps50 A G 6: 3,536,853 (GRCm39) M275V possibly damaging Het
Xrcc5 A G 1: 72,346,735 (GRCm39) probably benign Het
Zbtb18 T C 1: 177,276,182 (GRCm39) L505S probably damaging Het
Zbtb41 T C 1: 139,366,722 (GRCm39) I567T probably damaging Het
Zfp598 T C 17: 24,897,558 (GRCm39) probably benign 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
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
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'- TGCTCTTAGACCTCGATCAGCAGAC -3'
(R):5'- GCTTGGACTTGGAGCGGGTAATAC -3'

Sequencing Primer
(F):5'- CATCAGGTGGTCGAGCAG -3'
(R):5'- CTAGCTGCATTTCACATTGGG -3'
Posted On 2013-04-16