Incidental Mutation 'R0238:Slc4a2'
ID 66082
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 038476-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.505) question?
Stock # R0238 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 24628939-24645945 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to T at 24641272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110701 (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 null
Transcript: ENSMUST00000080067
SMART Domains Protein: ENSMUSP00000078972
Gene: ENSMUSG00000028962

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 null
Transcript: ENSMUST00000115047
SMART Domains Protein: ENSMUSP00000110699
Gene: ENSMUSG00000028962

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 probably null
Transcript: ENSMUST00000115049
SMART Domains Protein: ENSMUSP00000110701
Gene: ENSMUSG00000028962

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: ENSMUST00000132109
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198786
Predicted Effect probably benign
Transcript: ENSMUST00000144389
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 92.6%
  • 20x: 76.9%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aar2 T G 2: 156,392,893 (GRCm39) V94G probably benign Het
Acp5 A T 9: 22,041,218 (GRCm39) S70T possibly damaging Het
Adcy1 C G 11: 7,089,162 (GRCm39) N525K possibly damaging Het
Aknad1 A G 3: 108,688,555 (GRCm39) M628V probably benign Het
Alg8 A T 7: 97,032,891 (GRCm39) probably null Het
Cacna1d A G 14: 29,845,453 (GRCm39) V572A probably benign Het
Ccdc158 A C 5: 92,809,977 (GRCm39) M177R probably benign Het
Ccdc191 A T 16: 43,767,859 (GRCm39) R678* probably null Het
Cdkn2d C A 9: 21,202,288 (GRCm39) probably benign Het
Cdx2 G T 5: 147,240,097 (GRCm39) T193K probably damaging Het
Cfap44 T A 16: 44,242,681 (GRCm39) M695K probably benign Het
Cfap70 A C 14: 20,498,673 (GRCm39) S5A probably benign Het
Chd9 T C 8: 91,659,456 (GRCm39) S139P probably damaging Het
Chmp7 A G 14: 69,958,446 (GRCm39) V241A probably damaging Het
Cnga1 A G 5: 72,762,374 (GRCm39) I380T probably damaging Het
Cts6 T A 13: 61,349,633 (GRCm39) E53D probably damaging Het
Dclk3 A T 9: 111,311,696 (GRCm39) N646I probably damaging Het
Dnhd1 A G 7: 105,370,738 (GRCm39) S4673G probably benign Het
Dock4 G T 12: 40,787,539 (GRCm39) S818I probably damaging Het
Dysf C T 6: 84,041,461 (GRCm39) Q156* probably null Het
Fam163b T C 2: 27,002,646 (GRCm39) N117S probably damaging Het
Fam89a A G 8: 125,467,971 (GRCm39) Y114H probably damaging Het
Flcn T C 11: 59,691,902 (GRCm39) N249S probably benign Het
Gm20422 T C 8: 70,219,365 (GRCm39) Y53C probably damaging Het
Gnai1 A G 5: 18,478,548 (GRCm39) S206P probably damaging Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Hal T C 10: 93,339,344 (GRCm39) S478P possibly damaging Het
Haus3 G A 5: 34,323,600 (GRCm39) P337S possibly damaging Het
Hectd1 T A 12: 51,816,101 (GRCm39) M1324L possibly damaging Het
Hspa9 A T 18: 35,079,699 (GRCm39) Y243* probably null Het
Htr3a T C 9: 48,817,686 (GRCm39) T96A probably benign Het
Ift140 C A 17: 25,264,497 (GRCm39) C557* probably null Het
Jph3 A G 8: 122,480,459 (GRCm39) Q379R possibly damaging Het
Kcnb1 A G 2: 166,946,889 (GRCm39) V653A probably benign Het
Kif14 A G 1: 136,455,131 (GRCm39) E1551G probably damaging Het
Krt17 G A 11: 100,151,704 (GRCm39) R30* probably null Het
Lamb3 A T 1: 193,003,361 (GRCm39) D100V probably damaging Het
Map2 A G 1: 66,455,265 (GRCm39) D1385G probably damaging Het
Map3k21 A G 8: 126,671,709 (GRCm39) D999G possibly damaging Het
Marf1 T C 16: 13,969,147 (GRCm39) I109V probably benign Het
Mcam T G 9: 44,051,502 (GRCm39) probably null Het
Med18 T C 4: 132,187,337 (GRCm39) H99R probably damaging Het
Mettl25 C T 10: 105,662,386 (GRCm39) V195I probably damaging Het
Myh8 A G 11: 67,192,518 (GRCm39) T1466A probably benign Het
Myo1e A T 9: 70,249,408 (GRCm39) I503F possibly damaging Het
Myo3b T A 2: 69,935,769 (GRCm39) C61S probably benign Het
Myorg A T 4: 41,498,912 (GRCm39) N239K probably benign Het
Nf1 A T 11: 79,309,400 (GRCm39) K438M possibly damaging Het
Nlrp9c A G 7: 26,077,437 (GRCm39) S727P possibly damaging Het
Nmbr C T 10: 14,646,139 (GRCm39) Q338* probably null Het
Nt5e A G 9: 88,249,385 (GRCm39) S440G possibly damaging Het
Nubp2 T C 17: 25,103,445 (GRCm39) E144G probably damaging Het
Or12e7 T C 2: 87,288,381 (GRCm39) F291L probably benign Het
Or2ag1b A G 7: 106,288,462 (GRCm39) Y159H probably benign Het
Or52s1 G A 7: 102,861,933 (GRCm39) V289M possibly damaging Het
Otogl T A 10: 107,642,557 (GRCm39) N1291I probably damaging Het
Pa2g4 T C 10: 128,399,511 (GRCm39) K51R probably benign Het
Pcdhb12 A G 18: 37,569,780 (GRCm39) I309V probably benign Het
Pck1 T G 2: 172,998,861 (GRCm39) I373S possibly damaging Het
Pga5 A G 19: 10,646,817 (GRCm39) Y305H probably damaging Het
Plxnd1 G T 6: 115,945,754 (GRCm39) D906E probably benign Het
Ppfia4 T C 1: 134,256,927 (GRCm39) E98G possibly damaging Het
Rab39 G A 9: 53,617,330 (GRCm39) T29I probably damaging Het
Raet1e C A 10: 22,056,761 (GRCm39) H112Q possibly damaging Het
Rars2 T C 4: 34,645,838 (GRCm39) Y252H probably damaging Het
Rars2 A C 4: 34,656,030 (GRCm39) Q421P probably benign Het
Rasa2 A T 9: 96,450,460 (GRCm39) D479E probably damaging Het
Rbl2 A T 8: 91,833,135 (GRCm39) T689S probably damaging Het
Rims4 C T 2: 163,705,945 (GRCm39) V230M probably benign Het
Skp2 A C 15: 9,127,971 (GRCm39) probably null Het
Slc35f4 A T 14: 49,541,713 (GRCm39) I347N possibly damaging Het
Slc52a3 T C 2: 151,850,076 (GRCm39) *461Q probably null Het
Slc6a1 G A 6: 114,279,761 (GRCm39) V142I probably benign Het
Susd5 A G 9: 113,925,977 (GRCm39) *620W probably null Het
Timm21 T C 18: 84,965,791 (GRCm39) N239S probably damaging Het
Tmem63c T C 12: 87,122,413 (GRCm39) W404R probably damaging Het
Tnrc6b A G 15: 80,772,065 (GRCm39) D1118G probably damaging Het
Traf2 G C 2: 25,427,138 (GRCm39) A71G possibly damaging Het
Trim54 A G 5: 31,291,463 (GRCm39) M195V probably benign Het
Trip11 C T 12: 101,850,987 (GRCm39) E741K probably damaging Het
Trp73 AGCTGCTGCTGCTGCTGCTG AGCTGCTGCTGCTGCTG 4: 154,146,981 (GRCm39) probably benign Het
Trpm5 G T 7: 142,636,695 (GRCm39) T414N probably damaging Het
Vps51 G T 19: 6,121,467 (GRCm39) S185* probably null Het
Zfp329 G T 7: 12,544,756 (GRCm39) T256K probably damaging Het
Zfp729b A G 13: 67,740,022 (GRCm39) Y748H probably damaging Het
Zfp777 T C 6: 48,001,903 (GRCm39) E773G 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
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
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
Posted On 2013-08-19