Incidental Mutation 'R8375:Mpv17l'
ID 646648
Institutional Source Beutler Lab
Gene Symbol Mpv17l
Ensembl Gene ENSMUSG00000022679
Gene Name Mpv17 transgene, kidney disease mutant-like
Synonyms M-LP
MMRRC Submission 067743-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R8375 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 13721025-13767483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13758863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 96 (I96L)
Ref Sequence ENSEMBL: ENSMUSP00000116298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023360] [ENSMUST00000124947] [ENSMUST00000128757] [ENSMUST00000141971] [ENSMUST00000143697] [ENSMUST00000148966] [ENSMUST00000156143]
AlphaFold Q99MS3
Predicted Effect probably benign
Transcript: ENSMUST00000023360
AA Change: I96L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023360
Gene: ENSMUSG00000022679
AA Change: I96L

DomainStartEndE-ValueType
Pfam:Mpv17_PMP22 106 169 2.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124947
SMART Domains Protein: ENSMUSP00000117826
Gene: ENSMUSG00000022679

DomainStartEndE-ValueType
Pfam:Mpv17_PMP22 1 66 3.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128757
SMART Domains Protein: ENSMUSP00000120169
Gene: ENSMUSG00000022679

DomainStartEndE-ValueType
Pfam:Mpv17_PMP22 7 72 5.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141971
SMART Domains Protein: ENSMUSP00000123424
Gene: ENSMUSG00000022679

DomainStartEndE-ValueType
Pfam:Mpv17_PMP22 15 80 2.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143697
AA Change: I96L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000148966
AA Change: I96L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000156143
SMART Domains Protein: ENSMUSP00000123656
Gene: ENSMUSG00000022679

DomainStartEndE-ValueType
Pfam:Mpv17_PMP22 10 73 1.9e-26 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,265,416 (GRCm39) F3030L probably benign Het
Abca13 A T 11: 9,347,841 (GRCm39) I3565F probably damaging Het
Ak7 A T 12: 105,708,600 (GRCm39) I352F probably damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Anapc7 C T 5: 122,566,342 (GRCm39) P84S probably benign Het
Apol7a A T 15: 77,273,547 (GRCm39) I305N probably damaging Het
Asf1b C T 8: 84,694,559 (GRCm39) R108C probably damaging Het
Bicd1 A T 6: 149,421,989 (GRCm39) E903D probably benign Het
Bpifb3 A T 2: 153,767,715 (GRCm39) I263F probably benign Het
Cavin3 T A 7: 105,130,228 (GRCm39) S195C probably damaging Het
Chsy3 C A 18: 59,312,585 (GRCm39) R353S probably damaging Het
Col5a2 A G 1: 45,481,890 (GRCm39) V78A unknown Het
Cpxm1 C T 2: 130,236,146 (GRCm39) E339K probably damaging Het
Cyp26c1 G T 19: 37,675,660 (GRCm39) A175S probably benign Het
Dnah5 A T 15: 28,327,489 (GRCm39) T2069S probably benign Het
Ednrb A G 14: 104,057,383 (GRCm39) F393S probably damaging Het
Fstl4 T C 11: 53,053,502 (GRCm39) S385P possibly damaging Het
Gabpb2 G A 3: 95,112,109 (GRCm39) S40L probably damaging Het
Gabrb1 T C 5: 72,187,172 (GRCm39) I155T probably damaging Het
Hc T A 2: 34,873,731 (GRCm39) N1668Y probably benign Het
Kcnh1 A G 1: 192,117,124 (GRCm39) H670R probably damaging Het
Krt31 G A 11: 99,938,603 (GRCm39) A330V probably benign Het
Lrfn2 T A 17: 49,403,851 (GRCm39) M658K possibly damaging Het
Lrrc1 T A 9: 77,365,129 (GRCm39) N184I probably damaging Het
Lrrc69 T C 4: 14,795,994 (GRCm39) I18V probably benign Het
Lvrn G A 18: 46,983,289 (GRCm39) V11M probably damaging Het
Map4k4 T C 1: 40,063,801 (GRCm39) S1199P possibly damaging Het
Mib1 T C 18: 10,768,233 (GRCm39) probably null Het
Myo18b C T 5: 112,908,259 (GRCm39) V2005I possibly damaging Het
Myo6 T A 9: 80,162,206 (GRCm39) H314Q unknown Het
Nat8f6 A C 6: 85,785,888 (GRCm39) M87R probably benign Het
Net1 A G 13: 3,943,458 (GRCm39) probably benign Het
Notch4 C T 17: 34,787,228 (GRCm39) T294I possibly damaging Het
Nrros A G 16: 31,966,456 (GRCm39) L36P probably damaging Het
Or8b12i T C 9: 20,082,037 (GRCm39) M277V probably benign Het
Or8c9 G C 9: 38,241,231 (GRCm39) W113S probably benign Het
Padi3 T C 4: 140,525,407 (GRCm39) H202R probably damaging Het
Pik3ap1 A T 19: 41,316,538 (GRCm39) M284K probably damaging Het
Prr27 C A 5: 87,990,710 (GRCm39) Y107* probably null Het
Rab5c G T 11: 100,607,609 (GRCm39) N188K probably damaging Het
Rlf A T 4: 121,005,532 (GRCm39) S1259R probably damaging Het
Rrm2 T C 12: 24,762,751 (GRCm39) V298A probably damaging Het
Rtn4rl2 A T 2: 84,711,033 (GRCm39) L77H possibly damaging Het
Skint4 A G 4: 111,975,173 (GRCm39) I44M probably damaging Het
Spaca7 T C 8: 12,648,998 (GRCm39) I164T probably benign Het
Spg7 A G 8: 123,800,568 (GRCm39) S153G probably damaging Het
Spink5 T C 18: 44,123,786 (GRCm39) S358P probably benign Het
Stx5a T C 19: 8,732,462 (GRCm39) M377T unknown Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Ttc41 A G 10: 86,599,844 (GRCm39) D1048G probably damaging Het
Ttn A T 2: 76,557,509 (GRCm39) W29862R probably damaging Het
Vmn1r203 T G 13: 22,709,154 (GRCm39) *312G probably null Het
Vmn2r74 T G 7: 85,601,914 (GRCm39) T575P possibly damaging Het
Zfp14 A T 7: 29,738,579 (GRCm39) N135K possibly damaging Het
Other mutations in Mpv17l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0314:Mpv17l UTSW 16 13,758,863 (GRCm39) missense probably benign 0.06
R0315:Mpv17l UTSW 16 13,758,863 (GRCm39) missense probably benign 0.06
R0384:Mpv17l UTSW 16 13,758,863 (GRCm39) missense probably benign 0.06
R0385:Mpv17l UTSW 16 13,758,863 (GRCm39) missense probably benign 0.06
R0388:Mpv17l UTSW 16 13,758,863 (GRCm39) missense probably benign 0.06
R0440:Mpv17l UTSW 16 13,762,583 (GRCm39) missense probably damaging 1.00
R1544:Mpv17l UTSW 16 13,764,683 (GRCm39) missense probably damaging 1.00
R5092:Mpv17l UTSW 16 13,758,537 (GRCm39) start codon destroyed probably null
R5721:Mpv17l UTSW 16 13,764,658 (GRCm39) missense probably damaging 1.00
R5805:Mpv17l UTSW 16 13,760,013 (GRCm39) intron probably benign
R6488:Mpv17l UTSW 16 13,764,452 (GRCm39) critical splice donor site probably null
R8271:Mpv17l UTSW 16 13,762,584 (GRCm39) missense probably damaging 1.00
R8447:Mpv17l UTSW 16 13,758,864 (GRCm39) missense probably benign 0.19
R9535:Mpv17l UTSW 16 13,759,149 (GRCm39) missense probably benign
Z1176:Mpv17l UTSW 16 13,758,693 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCACTAACGTGCTGCTCTAC -3'
(R):5'- ATCGCTGCTTCAGAACTTCC -3'

Sequencing Primer
(F):5'- CTTCTCGGCGGGTGATGC -3'
(R):5'- GCTGCTTCAGAACTTCCTTTCAG -3'
Posted On 2020-09-02