Incidental Mutation 'R7757:Epb42'
ID 597586
Institutional Source Beutler Lab
Gene Symbol Epb42
Ensembl Gene ENSMUSG00000023216
Gene Name erythrocyte membrane protein band 4.2
Synonyms Epb4.2
MMRRC Submission 045813-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7757 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 120848372-120867358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120858200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 253 (R253G)
Ref Sequence ENSEMBL: ENSMUSP00000099548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023987] [ENSMUST00000102490]
AlphaFold P49222
Predicted Effect possibly damaging
Transcript: ENSMUST00000023987
AA Change: R253G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023987
Gene: ENSMUSG00000023216
AA Change: R253G

DomainStartEndE-ValueType
Pfam:Transglut_N 5 126 8.9e-35 PFAM
TGc 260 353 3.52e-27 SMART
low complexity region 442 458 N/A INTRINSIC
Pfam:Transglut_C 475 552 5.1e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102490
AA Change: R253G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216
AA Change: R253G

DomainStartEndE-ValueType
Pfam:Transglut_N 6 124 5.8e-34 PFAM
TGc 260 353 3.52e-27 SMART
low complexity region 442 458 N/A INTRINSIC
Pfam:Transglut_C 475 580 8e-23 PFAM
Pfam:Transglut_C 588 686 8.8e-26 PFAM
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (70/73)
MGI Phenotype FUNCTION: The protein encoded by this gene is the key component of a macromolecular complex involved in the structure of erythrocytes. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit erythrocytic abnormalities including mild spherocytosis, altered ion transport, and dehydration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,236,187 (GRCm39) M1179I probably benign Het
6430550D23Rik T C 2: 155,845,351 (GRCm39) T18A possibly damaging Het
Acox2 T C 14: 8,230,166 (GRCm38) N659S probably damaging Het
Agk T C 6: 40,353,212 (GRCm39) V192A possibly damaging Het
Ap3b1 T A 13: 94,664,666 (GRCm39) probably null Het
Bche T A 3: 73,608,454 (GRCm39) D324V probably damaging Het
Bsn A G 9: 107,991,939 (GRCm39) I1271T possibly damaging Het
Capn12 T C 7: 28,582,246 (GRCm39) L120P probably damaging Het
Cep290 T A 10: 100,399,296 (GRCm39) S2273T probably benign Het
Ckap4 T C 10: 84,364,331 (GRCm39) E244G probably damaging Het
Clcn7 T C 17: 25,375,796 (GRCm39) Y545H probably damaging Het
Cmya5 T A 13: 93,234,780 (GRCm39) T103S possibly damaging Het
Cplane1 A T 15: 8,281,711 (GRCm39) E2850V unknown Het
Cpne9 G A 6: 113,261,406 (GRCm39) V121M possibly damaging Het
Csmd2 T A 4: 128,377,249 (GRCm39) I2043N Het
Disc1 A G 8: 125,814,243 (GRCm39) T36A probably benign Het
Disp2 T C 2: 118,621,391 (GRCm39) Y708H probably damaging Het
Dnah3 A G 7: 119,670,793 (GRCm39) V635A probably benign Het
Dnah3 A T 7: 119,570,438 (GRCm39) probably null Het
Dync1li1 A G 9: 114,538,345 (GRCm39) H234R possibly damaging Het
Egfr T C 11: 16,839,966 (GRCm39) V660A possibly damaging Het
Fat2 T A 11: 55,202,247 (GRCm39) T276S probably benign Het
Fcho2 A G 13: 98,901,011 (GRCm39) probably null Het
Ginm1 A T 10: 7,655,119 (GRCm39) I41N probably damaging Het
Gm4744 A G 6: 40,927,367 (GRCm39) probably benign Het
Gm49368 C T 7: 127,711,398 (GRCm39) R701C probably damaging Het
Gpr37 T A 6: 25,688,207 (GRCm39) I297F probably benign Het
Gprc5a T A 6: 135,056,342 (GRCm39) I263N possibly damaging Het
Gys2 A T 6: 142,400,177 (GRCm39) S345T probably benign Het
Hk2 T C 6: 82,719,896 (GRCm39) M255V possibly damaging Het
Ibtk A C 9: 85,579,290 (GRCm39) S1202A possibly damaging Het
Il23r T G 6: 67,400,965 (GRCm39) D455A probably benign Het
Irs2 T A 8: 11,056,522 (GRCm39) K637* probably null Het
Jak2 T C 19: 29,260,946 (GRCm39) V314A probably benign Het
Mei1 C T 15: 81,966,824 (GRCm39) probably benign Het
Mill1 T C 7: 17,996,391 (GRCm39) M69T probably benign Het
Mms22l T C 4: 24,598,884 (GRCm39) probably null Het
Mup8 C A 4: 60,220,332 (GRCm39) Q133H probably benign Het
Mup8 T A 4: 60,220,333 (GRCm39) Q133L probably benign Het
Mycbp2 A T 14: 103,429,055 (GRCm39) Y2374N probably damaging Het
Nbeal1 A T 1: 60,296,609 (GRCm39) K1166N probably damaging Het
Nlrc4 T A 17: 74,755,191 (GRCm39) R8S probably benign Het
Nrcam C T 12: 44,596,681 (GRCm39) Q25* probably null Het
Nudt16 A C 9: 105,008,760 (GRCm39) M47R probably damaging Het
Nup62 T C 7: 44,478,419 (GRCm39) S145P probably benign Het
Or10d1 A G 9: 39,483,761 (GRCm39) W265R probably benign Het
Or4c117 T C 2: 88,955,333 (GRCm39) I247M possibly damaging Het
Osbpl1a A T 18: 13,066,657 (GRCm39) V34D probably benign Het
Otogl T A 10: 107,712,782 (GRCm39) N521Y probably damaging Het
Pcdhb14 T A 18: 37,582,887 (GRCm39) D664E possibly damaging Het
Pex5l T C 3: 33,136,300 (GRCm39) probably benign Het
Pkhd1 A G 1: 20,632,639 (GRCm39) L592P probably damaging Het
Plxdc2 A G 2: 16,734,187 (GRCm39) H480R probably benign Het
Rnf216 T A 5: 143,065,991 (GRCm39) K532N probably damaging Het
Schip1 C A 3: 68,525,028 (GRCm39) Q358K probably damaging Het
Sdc2 A T 15: 33,028,233 (GRCm39) E117V possibly damaging Het
Septin11 A T 5: 93,319,323 (GRCm39) probably null Het
Shprh A T 10: 11,037,924 (GRCm39) E420V probably benign Het
Ska1 T A 18: 74,330,044 (GRCm39) H232L probably benign Het
Slc36a4 A G 9: 15,630,956 (GRCm39) N25S possibly damaging Het
Slitrk3 G A 3: 72,958,172 (GRCm39) T200M probably damaging Het
Smad2 C T 18: 76,421,084 (GRCm39) H138Y probably benign Het
Snx21 T C 2: 164,628,085 (GRCm39) S34P probably damaging Het
Sos2 A G 12: 69,695,359 (GRCm39) V126A probably damaging Het
Srcap C T 7: 127,129,966 (GRCm39) T596I probably damaging Het
Stk31 T G 6: 49,383,877 (GRCm39) probably null Het
Stox1 T C 10: 62,499,743 (GRCm39) D939G probably damaging Het
Syne2 G T 12: 76,108,553 (GRCm39) C979F possibly damaging Het
Tanc2 C A 11: 105,667,684 (GRCm39) N88K possibly damaging Het
Tll2 A T 19: 41,084,447 (GRCm39) V677E probably damaging Het
Ttn T C 2: 76,748,834 (GRCm39) T4072A probably benign Het
Unc13b CAGAGC CAGAGCGAGAGC 4: 43,177,341 (GRCm39) probably benign Het
Unc13b CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,312 (GRCm39) probably benign Het
Unc13b AGAGCC AGAGCCCGAGCC 4: 43,177,330 (GRCm39) probably benign Het
Vmn2r43 A T 7: 8,258,253 (GRCm39) F320Y possibly damaging Het
Zscan4f G T 7: 11,135,205 (GRCm39) G204* probably null Het
Other mutations in Epb42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01535:Epb42 APN 2 120,858,169 (GRCm39) missense probably damaging 1.00
IGL01627:Epb42 APN 2 120,856,324 (GRCm39) missense probably benign 0.06
IGL02059:Epb42 APN 2 120,855,188 (GRCm39) missense probably damaging 0.96
IGL02869:Epb42 APN 2 120,856,227 (GRCm39) missense probably benign
R0279:Epb42 UTSW 2 120,859,525 (GRCm39) splice site probably benign
R0521:Epb42 UTSW 2 120,859,631 (GRCm39) nonsense probably null
R1457:Epb42 UTSW 2 120,860,448 (GRCm39) critical splice donor site probably null
R2157:Epb42 UTSW 2 120,852,243 (GRCm39) missense probably benign
R2392:Epb42 UTSW 2 120,860,468 (GRCm39) missense possibly damaging 0.85
R2407:Epb42 UTSW 2 120,855,233 (GRCm39) missense probably damaging 1.00
R2866:Epb42 UTSW 2 120,856,402 (GRCm39) missense possibly damaging 0.93
R2993:Epb42 UTSW 2 120,859,525 (GRCm39) splice site probably benign
R3426:Epb42 UTSW 2 120,860,520 (GRCm39) missense probably damaging 1.00
R3427:Epb42 UTSW 2 120,860,520 (GRCm39) missense probably damaging 1.00
R4192:Epb42 UTSW 2 120,860,570 (GRCm39) splice site probably null
R4940:Epb42 UTSW 2 120,864,932 (GRCm39) missense probably damaging 1.00
R5368:Epb42 UTSW 2 120,849,943 (GRCm39) missense probably benign 0.22
R5771:Epb42 UTSW 2 120,852,301 (GRCm39) missense probably damaging 0.99
R6048:Epb42 UTSW 2 120,854,889 (GRCm39) missense probably benign 0.00
R6362:Epb42 UTSW 2 120,856,260 (GRCm39) missense possibly damaging 0.72
R6475:Epb42 UTSW 2 120,857,614 (GRCm39) missense possibly damaging 0.53
R6711:Epb42 UTSW 2 120,854,589 (GRCm39) intron probably benign
R6843:Epb42 UTSW 2 120,858,166 (GRCm39) missense possibly damaging 0.85
R6895:Epb42 UTSW 2 120,867,104 (GRCm39) start gained probably benign
R7154:Epb42 UTSW 2 120,863,843 (GRCm39) missense probably benign 0.01
R7192:Epb42 UTSW 2 120,854,578 (GRCm39) missense unknown
R7600:Epb42 UTSW 2 120,852,307 (GRCm39) missense probably damaging 1.00
R7779:Epb42 UTSW 2 120,864,916 (GRCm39) missense probably benign 0.14
R7781:Epb42 UTSW 2 120,864,916 (GRCm39) missense probably benign 0.14
R7782:Epb42 UTSW 2 120,864,916 (GRCm39) missense probably benign 0.14
R7783:Epb42 UTSW 2 120,864,916 (GRCm39) missense probably benign 0.14
R7784:Epb42 UTSW 2 120,864,916 (GRCm39) missense probably benign 0.14
R8737:Epb42 UTSW 2 120,856,324 (GRCm39) missense possibly damaging 0.75
R8915:Epb42 UTSW 2 120,849,987 (GRCm39) missense possibly damaging 0.92
R8930:Epb42 UTSW 2 120,854,767 (GRCm39) missense probably benign 0.00
R8932:Epb42 UTSW 2 120,854,767 (GRCm39) missense probably benign 0.00
R9746:Epb42 UTSW 2 120,855,091 (GRCm39) missense probably benign 0.00
Z1177:Epb42 UTSW 2 120,858,206 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTTTAAGAGATGTCCCTCCC -3'
(R):5'- CAAAGCTCTGGAGATTGAGTCAC -3'

Sequencing Primer
(F):5'- TTAAGAGATGTCCCTCCCACATGG -3'
(R):5'- CTCTGGAGATTGAGTCACACACTTG -3'
Posted On 2019-11-26