Incidental Mutation 'R4445:Epb41l2'
ID 329848
Institutional Source Beutler Lab
Gene Symbol Epb41l2
Ensembl Gene ENSMUSG00000019978
Gene Name erythrocyte membrane protein band 4.1 like 2
Synonyms Epb4.1l2, 4.1G, D10Ertd398e, NBL2
MMRRC Submission 041151-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # R4445 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 25235696-25399417 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25319701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 178 (L178P)
Ref Sequence ENSEMBL: ENSMUSP00000151685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053748] [ENSMUST00000092645] [ENSMUST00000217929] [ENSMUST00000218903] [ENSMUST00000219166] [ENSMUST00000219224] [ENSMUST00000219805] [ENSMUST00000219900] [ENSMUST00000219967]
AlphaFold O70318
Predicted Effect probably benign
Transcript: ENSMUST00000053748
AA Change: L178P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: L178P

DomainStartEndE-ValueType
B41 207 402 3.22e-76 SMART
FERM_C 406 496 2.15e-39 SMART
FA 499 545 1.93e-18 SMART
low complexity region 555 567 N/A INTRINSIC
Pfam:SAB 613 661 1.8e-23 PFAM
low complexity region 717 733 N/A INTRINSIC
low complexity region 751 763 N/A INTRINSIC
Pfam:4_1_CTD 875 981 1.1e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092645
AA Change: L178P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: L178P

DomainStartEndE-ValueType
B41 207 402 3.22e-76 SMART
FERM_C 406 496 2.15e-39 SMART
FA 499 545 1.93e-18 SMART
low complexity region 555 567 N/A INTRINSIC
Pfam:SAB 613 661 6.1e-27 PFAM
low complexity region 717 733 N/A INTRINSIC
low complexity region 751 763 N/A INTRINSIC
Pfam:4_1_CTD 869 982 8.2e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217929
AA Change: L178P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218903
AA Change: L178P

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000219166
Predicted Effect probably benign
Transcript: ENSMUST00000219224
Predicted Effect probably benign
Transcript: ENSMUST00000219805
AA Change: L178P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000219900
AA Change: L178P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000219967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220121
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation. Male mice homozygous for a knock-out allele exhibit normal fertility. Male mice homozygous for a gene trap allele on a mixed background are infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,285,507 (GRCm39) S1160P probably damaging Het
Adgrl1 T C 8: 84,661,489 (GRCm39) L962P probably damaging Het
Arl6 A T 16: 59,444,676 (GRCm39) I51K probably damaging Het
Calcoco1 A G 15: 102,624,175 (GRCm39) probably null Het
Cd59a A G 2: 103,941,163 (GRCm39) Q47R probably benign Het
Cdkl2 G A 5: 92,168,168 (GRCm39) T342I probably benign Het
Cfap45 G A 1: 172,362,794 (GRCm39) V262M probably benign Het
Chd8 A T 14: 52,441,984 (GRCm39) probably null Het
Cntnap2 C T 6: 46,736,785 (GRCm39) T737I probably benign Het
Cplane1 A G 15: 8,281,672 (GRCm39) D2837G unknown Het
Crot T C 5: 9,023,643 (GRCm39) H415R probably damaging Het
Cyp17a1 A G 19: 46,656,462 (GRCm39) F411L probably damaging Het
Cyp4a12a G A 4: 115,183,980 (GRCm39) probably null Het
Cysltr2 G A 14: 73,267,333 (GRCm39) H126Y possibly damaging Het
Ddx56 A T 11: 6,215,770 (GRCm39) probably null Het
Dync2i1 G A 12: 116,171,335 (GRCm39) A967V probably damaging Het
Elmod1 T A 9: 53,841,413 (GRCm39) D93V probably damaging Het
Flacc1 A T 1: 58,706,080 (GRCm39) I263K possibly damaging Het
Galnt10 T A 11: 57,674,517 (GRCm39) V502D probably damaging Het
Gm11735 T C 11: 116,629,888 (GRCm39) noncoding transcript Het
H4c12 T C 13: 21,934,513 (GRCm39) T55A possibly damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Igsf9b A G 9: 27,245,548 (GRCm39) T1172A probably benign Het
Ip6k3 A G 17: 27,364,076 (GRCm39) I324T probably benign Het
Klkb1 C T 8: 45,730,092 (GRCm39) S263N probably benign Het
Lrit3 A T 3: 129,582,180 (GRCm39) C602* probably null Het
Lyst T C 13: 13,884,149 (GRCm39) S2986P probably benign Het
Mapkapk5 T C 5: 121,663,291 (GRCm39) T445A probably benign Het
Mms19 A T 19: 41,952,372 (GRCm39) M119K possibly damaging Het
Myo7a T C 7: 97,715,611 (GRCm39) D63G probably damaging Het
Nscme3l A T 19: 5,553,022 (GRCm39) V253D probably damaging Het
Nsun2 G A 13: 69,777,840 (GRCm39) probably null Het
Or13a24 C A 7: 140,154,302 (GRCm39) P79T probably damaging Het
Or1ak2 T G 2: 36,827,563 (GRCm39) L144R probably damaging Het
Or2ag1b T A 7: 106,288,353 (GRCm39) Y195F possibly damaging Het
Or51t4 T C 7: 102,598,005 (GRCm39) L101P possibly damaging Het
Pabpc2 T C 18: 39,907,253 (GRCm39) F173L probably damaging Het
Rngtt A G 4: 33,499,035 (GRCm39) I531V probably benign Het
Sacs A G 14: 61,442,135 (GRCm39) M1394V probably benign Het
Setd1b G T 5: 123,286,167 (GRCm39) E404D unknown Het
Slc25a54 G A 3: 109,005,984 (GRCm39) R164H probably benign Het
Slc2a13 A G 15: 91,234,223 (GRCm39) V371A possibly damaging Het
Spag9 C G 11: 93,988,079 (GRCm39) L798V possibly damaging Het
Tbce A T 13: 14,172,980 (GRCm39) S484T possibly damaging Het
Tcf12 C T 9: 71,776,345 (GRCm39) R399Q probably damaging Het
Ttn A G 2: 76,615,177 (GRCm39) V16847A probably benign Het
Ttn A G 2: 76,687,210 (GRCm39) probably benign Het
Vmn1r11 T G 6: 57,114,515 (GRCm39) L23V probably benign Het
Vmn2r59 C T 7: 41,691,874 (GRCm39) C541Y probably damaging Het
Vmn2r82 A C 10: 79,214,874 (GRCm39) T286P possibly damaging Het
Vps13c T G 9: 67,889,777 (GRCm39) probably null Het
Ypel1 A T 16: 16,921,464 (GRCm39) Y73* probably null Het
Zdhhc6 T C 19: 55,291,169 (GRCm39) I349V probably benign Het
Other mutations in Epb41l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Epb41l2 APN 10 25,377,734 (GRCm39) missense probably damaging 1.00
IGL00826:Epb41l2 APN 10 25,317,620 (GRCm39) missense probably benign 0.07
IGL01312:Epb41l2 APN 10 25,317,485 (GRCm39) start codon destroyed probably null 1.00
IGL02123:Epb41l2 APN 10 25,336,742 (GRCm39) missense probably damaging 1.00
IGL02448:Epb41l2 APN 10 25,369,493 (GRCm39) missense possibly damaging 0.66
R0365:Epb41l2 UTSW 10 25,345,119 (GRCm39) missense probably damaging 1.00
R0594:Epb41l2 UTSW 10 25,319,668 (GRCm39) missense possibly damaging 0.53
R0826:Epb41l2 UTSW 10 25,380,090 (GRCm39) missense probably damaging 1.00
R0837:Epb41l2 UTSW 10 25,383,714 (GRCm39) missense probably damaging 1.00
R1243:Epb41l2 UTSW 10 25,364,941 (GRCm39) missense possibly damaging 0.81
R1301:Epb41l2 UTSW 10 25,319,800 (GRCm39) missense probably damaging 1.00
R1560:Epb41l2 UTSW 10 25,371,334 (GRCm39) splice site probably null
R1752:Epb41l2 UTSW 10 25,336,690 (GRCm39) missense probably damaging 1.00
R1813:Epb41l2 UTSW 10 25,317,466 (GRCm39) splice site probably null
R1966:Epb41l2 UTSW 10 25,317,666 (GRCm39) missense probably benign 0.01
R2276:Epb41l2 UTSW 10 25,364,842 (GRCm39) unclassified probably benign
R4425:Epb41l2 UTSW 10 25,382,078 (GRCm39) missense possibly damaging 0.81
R4621:Epb41l2 UTSW 10 25,378,038 (GRCm39) critical splice donor site probably null
R4720:Epb41l2 UTSW 10 25,347,524 (GRCm39) missense probably damaging 1.00
R5026:Epb41l2 UTSW 10 25,360,206 (GRCm39) missense possibly damaging 0.94
R5408:Epb41l2 UTSW 10 25,343,992 (GRCm39) critical splice acceptor site probably null
R5703:Epb41l2 UTSW 10 25,317,665 (GRCm39) missense probably damaging 1.00
R5896:Epb41l2 UTSW 10 25,369,494 (GRCm39) missense probably damaging 0.96
R5974:Epb41l2 UTSW 10 25,317,713 (GRCm39) missense possibly damaging 0.79
R6073:Epb41l2 UTSW 10 25,377,730 (GRCm39) missense probably damaging 1.00
R6182:Epb41l2 UTSW 10 25,383,715 (GRCm39) missense probably damaging 1.00
R6229:Epb41l2 UTSW 10 25,375,734 (GRCm39) missense possibly damaging 0.73
R6276:Epb41l2 UTSW 10 25,378,022 (GRCm39) missense probably damaging 0.98
R6321:Epb41l2 UTSW 10 25,344,026 (GRCm39) missense probably damaging 0.98
R6737:Epb41l2 UTSW 10 25,364,916 (GRCm39) splice site probably null
R6766:Epb41l2 UTSW 10 25,348,990 (GRCm39) nonsense probably null
R6834:Epb41l2 UTSW 10 25,369,502 (GRCm39) missense possibly damaging 0.92
R7023:Epb41l2 UTSW 10 25,388,875 (GRCm39) missense probably damaging 1.00
R7258:Epb41l2 UTSW 10 25,360,185 (GRCm39) missense probably damaging 1.00
R7688:Epb41l2 UTSW 10 25,355,036 (GRCm39) missense probably damaging 0.97
R7769:Epb41l2 UTSW 10 25,369,471 (GRCm39) missense probably benign
R7796:Epb41l2 UTSW 10 25,319,727 (GRCm39) missense probably benign 0.15
R8365:Epb41l2 UTSW 10 25,317,584 (GRCm39) missense probably benign 0.21
R8490:Epb41l2 UTSW 10 25,380,128 (GRCm39) missense probably damaging 1.00
R8676:Epb41l2 UTSW 10 25,319,674 (GRCm39) missense probably benign 0.03
R8744:Epb41l2 UTSW 10 25,317,725 (GRCm39) missense probably damaging 1.00
R9288:Epb41l2 UTSW 10 25,355,653 (GRCm39) missense possibly damaging 0.85
R9650:Epb41l2 UTSW 10 25,369,495 (GRCm39) missense probably benign 0.28
R9665:Epb41l2 UTSW 10 25,317,798 (GRCm39) missense probably benign
R9707:Epb41l2 UTSW 10 25,378,235 (GRCm39) missense probably damaging 1.00
Z1176:Epb41l2 UTSW 10 25,375,800 (GRCm39) nonsense probably null
Z1176:Epb41l2 UTSW 10 25,317,618 (GRCm39) missense probably benign 0.03
Z1177:Epb41l2 UTSW 10 25,355,639 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGGGATAAGTTACCAGTCTGC -3'
(R):5'- GCCTGTAGGAACTTGGTGAAAG -3'

Sequencing Primer
(F):5'- GTTACCAGTCTGCTTAGAAAAGTGG -3'
(R):5'- ATTCTGTCACGAGGAGAACTCTCTG -3'
Posted On 2015-07-21