Incidental Mutation 'R5108:Slc4a2'
ID 393660
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 042696-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.505) question?
Stock # R5108 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 24628939-24645945 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24644331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 976 (M976I)
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 possibly damaging
Transcript: ENSMUST00000080067
AA Change: M990I

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078972
Gene: ENSMUSG00000028962
AA Change: M990I

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: M976I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110699
Gene: ENSMUSG00000028962
AA Change: M976I

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 benign
Transcript: ENSMUST00000115049
AA Change: M981I

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000110701
Gene: ENSMUSG00000028962
AA Change: M981I

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: ENSMUST00000123144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132109
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130577
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146765
Predicted Effect probably benign
Transcript: ENSMUST00000144389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151900
Meta Mutation Damage Score 0.1485 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 99% (79/80)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,094,207 (GRCm39) N94Y probably damaging Het
Ak2 A G 4: 128,896,034 (GRCm39) T104A probably damaging Het
Alox12b G T 11: 69,048,208 (GRCm39) A46S probably benign Het
Ank1 G T 8: 23,622,571 (GRCm39) V1662F probably benign Het
Anxa3 T C 5: 96,978,273 (GRCm39) I219T possibly damaging Het
Aoc1l3 C T 6: 48,965,504 (GRCm39) T504I probably damaging Het
Arhgap40 G A 2: 158,389,599 (GRCm39) V588M probably damaging Het
Arhgef38 T C 3: 132,843,029 (GRCm39) T514A probably benign Het
Ascl4 C A 10: 85,764,422 (GRCm39) A23E probably benign Het
Bcl11b T C 12: 107,931,985 (GRCm39) T196A probably benign Het
C1ra A T 6: 124,499,881 (GRCm39) Y689F probably damaging Het
Ccr3 A G 9: 123,828,968 (GRCm39) N101S probably benign Het
Cep70 A T 9: 99,145,865 (GRCm39) probably null Het
Ces1b A G 8: 93,798,541 (GRCm39) V215A probably damaging Het
Cndp1 A T 18: 84,650,186 (GRCm39) I169N probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbxo2 A G 4: 148,250,486 (GRCm39) Q275R probably damaging Het
Fbxo44 T C 4: 148,243,020 (GRCm39) N133S probably damaging Het
Fzr1 C T 10: 81,205,284 (GRCm39) probably benign Het
Grn T C 11: 102,325,228 (GRCm39) S213P probably benign Het
Ifi203 A T 1: 173,751,580 (GRCm39) C414S probably damaging Het
Igfn1 C T 1: 135,910,179 (GRCm39) R135H probably benign Het
Kcnk10 T C 12: 98,401,560 (GRCm39) M358V probably benign Het
Kcnn2 A T 18: 45,725,122 (GRCm39) Y471F probably damaging Het
Klhl20 A T 1: 160,926,820 (GRCm39) V391E probably damaging Het
Krt1c C T 15: 101,721,721 (GRCm39) G440D possibly damaging Het
Lpin1 A T 12: 16,623,716 (GRCm39) Y223N probably benign Het
Luzp2 G A 7: 54,915,038 (GRCm39) C321Y probably damaging Het
Mcm3ap T C 10: 76,338,536 (GRCm39) V1388A probably benign Het
Mdga2 A T 12: 66,533,515 (GRCm39) H223Q probably benign Het
Mgat4e G T 1: 134,468,961 (GRCm39) P361Q probably benign Het
Mylk3 A T 8: 86,085,721 (GRCm39) I208N possibly damaging Het
Myom2 T A 8: 15,182,667 (GRCm39) V1368E probably damaging Het
Mypn C T 10: 62,972,073 (GRCm39) D656N probably damaging Het
Nat10 C A 2: 103,562,548 (GRCm39) R596L probably damaging Het
Nek8 T C 11: 78,063,353 (GRCm39) D137G probably damaging Het
Neurl1a A G 19: 47,246,074 (GRCm39) K552E probably damaging Het
Npdc1 C T 2: 25,298,667 (GRCm39) H260Y probably damaging Het
Nuggc A T 14: 65,876,129 (GRCm39) I581F probably damaging Het
Or8d23 T A 9: 38,842,151 (GRCm39) I228N probably damaging Het
P2rx6 T C 16: 17,380,037 (GRCm39) Y54H probably damaging Het
Pcmtd2 A G 2: 181,486,216 (GRCm39) E112G probably damaging Het
Pcnx4 G A 12: 72,620,855 (GRCm39) V892I probably benign Het
Pdss1 T A 2: 22,796,895 (GRCm39) V136E possibly damaging Het
Pias3 T C 3: 96,612,253 (GRCm39) L561P possibly damaging Het
Pomgnt1 G A 4: 116,013,453 (GRCm39) probably benign Het
Scn2a C T 2: 65,518,974 (GRCm39) T400I probably damaging Het
Sec24d T A 3: 123,099,434 (GRCm39) probably null Het
Sftpb T G 6: 72,281,640 (GRCm39) L11R probably damaging Het
Slc22a19 A G 19: 7,688,536 (GRCm39) I8T probably benign Het
Slc22a30 A G 19: 8,363,790 (GRCm39) S266P probably damaging Het
Slc36a2 C A 11: 55,050,214 (GRCm39) G465W probably damaging Het
Smcr8 C T 11: 60,670,696 (GRCm39) Q615* probably null Het
Sobp T C 10: 43,036,815 (GRCm39) E41G probably damaging Het
Spopfm1 C T 3: 94,173,142 (GRCm39) S50L probably damaging Het
Spz1 A T 13: 92,711,554 (GRCm39) C307* probably null Het
Sult1d1 C T 5: 87,711,728 (GRCm39) probably null Het
Tas2r110 T C 6: 132,845,668 (GRCm39) M233T probably damaging Het
Tmc3 C A 7: 83,269,156 (GRCm39) S781R probably damaging Het
Tmem234 G T 4: 129,495,730 (GRCm39) probably benign Het
Trpm3 A T 19: 22,882,078 (GRCm39) Q645L probably benign Het
Ttn C A 2: 76,565,055 (GRCm39) V28391F probably damaging Het
Txnrd3 G T 6: 89,650,016 (GRCm39) A425S probably benign Het
Ubr1 C T 2: 120,793,903 (GRCm39) G94R probably benign Het
Ufl1 A G 4: 25,269,026 (GRCm39) probably null Het
Utp20 T C 10: 88,604,735 (GRCm39) D1720G probably benign Het
Vmn1r13 T A 6: 57,186,901 (GRCm39) M20K probably benign Het
Vmn1r61 A G 7: 5,613,519 (GRCm39) I265T probably benign Het
Zfp120 T C 2: 149,961,862 (GRCm39) T29A 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
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
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'- CCAGCTAACATCAGTGACGTTTC -3'

Sequencing Primer
(F):5'- AAGGCATGGGCTGTTTCCAC -3'
(R):5'- GACGTTTCTGTTACCTGGAAAAG -3'
Posted On 2016-06-15