Incidental Mutation 'R1823:Slc4a2'
ID 206560
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 039851-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.505) question?
Stock # R1823 (G1)
Quality Score 200
Status Validated
Chromosome 5
Chromosomal Location 24628939-24645945 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24632618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 12 (A12V)
Ref Sequence ENSEMBL: ENSMUSP00000117215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030814] [ENSMUST00000080067] [ENSMUST00000115047] [ENSMUST00000115049] [ENSMUST00000155598] [ENSMUST00000141966] [ENSMUST00000153274] [ENSMUST00000198990]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030814
SMART Domains Protein: ENSMUSP00000030814
Gene: ENSMUSG00000028969

DomainStartEndE-ValueType
S_TKc 4 286 6.11e-101 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080067
AA Change: A12V

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000078972
Gene: ENSMUSG00000028962
AA Change: A12V

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: 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 benign
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: ENSMUST00000127315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136440
Predicted Effect possibly damaging
Transcript: ENSMUST00000155598
AA Change: A12V

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118473
Gene: ENSMUSG00000028962
AA Change: A12V

DomainStartEndE-ValueType
low complexity region 93 110 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000141966
AA Change: A12V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117215
Gene: ENSMUSG00000028962
AA Change: A12V

DomainStartEndE-ValueType
low complexity region 93 110 N/A INTRINSIC
low complexity region 113 129 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155636
Predicted Effect probably benign
Transcript: ENSMUST00000153274
Predicted Effect probably benign
Transcript: ENSMUST00000198990
SMART Domains Protein: ENSMUSP00000142413
Gene: ENSMUSG00000028969

DomainStartEndE-ValueType
Pfam:Pkinase 4 101 9.7e-23 PFAM
Pfam:Pkinase_Tyr 4 102 2.7e-13 PFAM
Pfam:Pkinase 97 254 6.6e-30 PFAM
Pfam:Pkinase_Tyr 102 200 9.4e-6 PFAM
Meta Mutation Damage Score 0.0658 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.6%
Validation Efficiency 98% (87/89)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,111,312 (GRCm39) V868I probably benign Het
Ahnak G T 19: 8,982,269 (GRCm39) M1184I probably damaging Het
Akap11 T C 14: 78,748,928 (GRCm39) E1153G probably damaging Het
Amy1 T C 3: 113,356,376 (GRCm39) N260S probably null Het
Ankrd6 A G 4: 32,824,427 (GRCm39) L129P probably damaging Het
Aox1 A T 1: 58,351,518 (GRCm39) T702S probably benign Het
Apobec1 G T 6: 122,555,845 (GRCm39) T204K possibly damaging Het
Arhgef19 A G 4: 140,976,457 (GRCm39) R433G probably benign Het
Atf6b T A 17: 34,867,618 (GRCm39) H110Q possibly damaging Het
Btnl4 C T 17: 34,694,826 (GRCm39) probably null Het
Camsap2 T C 1: 136,201,521 (GRCm39) T662A possibly damaging Het
Cbs G A 17: 31,843,245 (GRCm39) H229Y probably damaging Het
Cct8 G A 16: 87,287,442 (GRCm39) R111* probably null Het
Cdc42bpb C T 12: 111,293,993 (GRCm39) A250T probably damaging Het
Chrd A G 16: 20,560,097 (GRCm39) probably benign Het
Ckap2l A G 2: 129,117,499 (GRCm39) F559L probably damaging Het
Cltrn A G X: 162,901,230 (GRCm39) D184G possibly damaging Het
D630003M21Rik T C 2: 158,059,477 (GRCm39) Y141C probably damaging Het
Dbf4 T C 5: 8,447,539 (GRCm39) N557S probably benign Het
Dct T G 14: 118,273,935 (GRCm39) N324T probably benign Het
Dip2a A T 10: 76,114,336 (GRCm39) L999* probably null Het
Dock10 T A 1: 80,520,814 (GRCm39) probably null Het
Dync2li1 A T 17: 84,957,225 (GRCm39) D330V probably damaging Het
Eif4g3 T A 4: 137,907,802 (GRCm39) D1267E probably benign Het
Enc1 A G 13: 97,382,486 (GRCm39) E332G possibly damaging Het
Fat2 C T 11: 55,147,606 (GRCm39) V3879I probably benign Het
Fh1 A T 1: 175,444,114 (GRCm39) I117K probably damaging Het
Fkbp15 A G 4: 62,255,328 (GRCm39) L227P probably damaging Het
Fpr1 T A 17: 18,097,315 (GRCm39) M225L probably benign Het
Fras1 A T 5: 96,918,547 (GRCm39) I3528F probably damaging Het
Grm7 A G 6: 111,184,730 (GRCm39) T354A probably benign Het
Ift27 T A 15: 78,057,978 (GRCm39) I9F possibly damaging Het
Igf1r A G 7: 67,844,729 (GRCm39) D834G possibly damaging Het
Igsf9b T A 9: 27,243,028 (GRCm39) L738Q probably damaging Het
Itgam A T 7: 127,663,904 (GRCm39) T44S probably benign Het
Ivd T A 2: 118,692,515 (GRCm39) I5N probably benign Het
Jcad T C 18: 4,675,780 (GRCm39) S1181P probably damaging Het
Kctd18 A G 1: 57,995,524 (GRCm39) V251A probably benign Het
Mycbp2 A G 14: 103,489,945 (GRCm39) V953A possibly damaging Het
Myo18a T C 11: 77,715,923 (GRCm39) probably benign Het
Myo3a A T 2: 22,345,091 (GRCm39) Y509F probably damaging Het
Myocd C A 11: 65,069,496 (GRCm39) M909I probably benign Het
Ndufv3 G A 17: 31,750,219 (GRCm39) R467Q probably damaging Het
Nkpd1 G A 7: 19,257,177 (GRCm39) V319M probably damaging Het
Or13p4 T A 4: 118,547,389 (GRCm39) N87Y probably damaging Het
Or1af1 T C 2: 37,110,344 (GRCm39) V281A probably damaging Het
Or1p1c C T 11: 74,161,043 (GRCm39) A276V probably damaging Het
Or2q1 G T 6: 42,795,202 (GRCm39) A266S possibly damaging Het
Or2t1 T A 14: 14,328,774 (GRCm38) L221Q probably damaging Het
Or4c111 A G 2: 88,843,722 (GRCm39) S229P probably benign Het
Or5b101 C A 19: 13,005,181 (GRCm39) V171L probably benign Het
Parp4 T C 14: 56,827,329 (GRCm39) probably benign Het
Pcdhb9 A G 18: 37,535,871 (GRCm39) T622A probably benign Het
Pdpk1 A T 17: 24,317,150 (GRCm39) probably benign Het
Pkhd1 C A 1: 20,417,681 (GRCm39) G2490V probably damaging Het
Plekhg1 G T 10: 3,853,658 (GRCm39) probably null Het
Plekhh2 A G 17: 84,882,617 (GRCm39) Y708C probably damaging Het
Pnp T C 14: 51,187,786 (GRCm39) F107L probably damaging Het
Postn T A 3: 54,292,708 (GRCm39) probably null Het
Prcp A T 7: 92,577,883 (GRCm39) D349V probably damaging Het
Prl3a1 A T 13: 27,454,177 (GRCm39) I52F probably damaging Het
Pym1 G A 10: 128,601,913 (GRCm39) probably benign Het
Rad9a A T 19: 4,247,241 (GRCm39) I248N probably damaging Het
Ror2 T G 13: 53,264,341 (GRCm39) E917A probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Sema6d A G 2: 124,501,476 (GRCm39) probably null Het
Shisal1 T C 15: 84,290,669 (GRCm39) T213A probably benign Het
Slco6b1 T G 1: 96,888,901 (GRCm39) noncoding transcript Het
Slf2 A T 19: 44,923,687 (GRCm39) H167L possibly damaging Het
Snx9 G T 17: 5,970,946 (GRCm39) G429V probably damaging Het
Sod3 G T 5: 52,525,504 (GRCm39) V68L probably benign Het
Spta1 T A 1: 174,074,115 (GRCm39) D2351E probably benign Het
Srpk3 G A X: 72,821,561 (GRCm39) R425Q possibly damaging Het
Tatdn1 C T 15: 58,788,005 (GRCm39) G171E probably damaging Het
Tbc1d22a T C 15: 86,119,770 (GRCm39) V22A possibly damaging Het
Tnfsf9 A G 17: 57,412,738 (GRCm39) T103A probably benign Het
Tpm3-rs7 T C 14: 113,552,595 (GRCm39) L163P possibly damaging Het
Trim52 T A 14: 106,344,401 (GRCm39) C20S probably damaging Het
Ucp1 C T 8: 84,020,661 (GRCm39) T157I probably damaging Het
Uspl1 T A 5: 149,151,224 (GRCm39) L794Q probably benign Het
Vmn1r5 T A 6: 56,962,580 (GRCm39) V85E probably damaging Het
Vmn1r58 A G 7: 5,413,405 (GRCm39) I275T possibly damaging Het
Vmn2r79 A G 7: 86,687,080 (GRCm39) I820M probably damaging Het
Wscd1 C A 11: 71,651,044 (GRCm39) P124T probably benign Het
Zfp780b A T 7: 27,662,525 (GRCm39) C677S possibly 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
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'- AGGCCCTTCAATAGCACAGTC -3'
(R):5'- ACACTCTGCAAAGTCTTGGTG -3'

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