Incidental Mutation 'R5805:Mpv17l'
ID 448470
Institutional Source Beutler Lab
Gene Symbol Mpv17l
Ensembl Gene ENSMUSG00000022679
Gene Name Mpv17 transgene, kidney disease mutant-like
Synonyms M-LP
MMRRC Submission 043212-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R5805 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 13721025-13767483 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 13760013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023360] [ENSMUST00000124947] [ENSMUST00000128757] [ENSMUST00000141971] [ENSMUST00000143697] [ENSMUST00000148966] [ENSMUST00000156143]
AlphaFold Q99MS3
Predicted Effect probably benign
Transcript: ENSMUST00000023360
SMART Domains Protein: ENSMUSP00000023360
Gene: ENSMUSG00000022679

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
Predicted Effect unknown
Transcript: ENSMUST00000148966
AA Change: S114G
Predicted Effect probably benign
Transcript: ENSMUST00000156143
SMART Domains Protein: ENSMUSP00000123656
Gene: ENSMUSG00000022679

DomainStartEndE-ValueType
Pfam:Mpv17_PMP22 10 73 1.9e-26 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 C T 11: 110,170,216 (GRCm39) C1293Y probably benign Het
Adam8 T A 7: 139,565,794 (GRCm39) D611V probably damaging Het
Arhgap33 T C 7: 30,225,839 (GRCm39) T576A probably benign Het
Atf7 A T 15: 102,466,022 (GRCm39) probably null Het
Baiap3 T A 17: 25,466,489 (GRCm39) T464S probably benign Het
Ccdc40 T C 11: 119,136,906 (GRCm39) probably null Het
Celf2 T C 2: 6,558,598 (GRCm39) E430G probably damaging Het
Chia1 A G 3: 106,035,792 (GRCm39) T211A probably damaging Het
Ciz1 T C 2: 32,257,408 (GRCm39) F151S probably damaging Het
Dnm2 A G 9: 21,378,965 (GRCm39) T175A probably damaging Het
Doc2b A G 11: 75,663,364 (GRCm39) S363P probably damaging Het
Garem1 C T 18: 21,281,492 (GRCm39) R288H probably benign Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Helz2 C A 2: 180,882,301 (GRCm39) C164F probably damaging Het
Itfg1 A T 8: 86,493,601 (GRCm39) S293T probably benign Het
Kcnn2 T A 18: 45,816,198 (GRCm39) D336E probably damaging Het
Kifc2 C T 15: 76,546,353 (GRCm39) A245V probably benign Het
Krt18 T A 15: 101,939,735 (GRCm39) I311N probably benign Het
Lypla1 T C 1: 4,900,517 (GRCm39) M7T possibly damaging Het
Mef2a T C 7: 66,901,416 (GRCm39) M285V possibly damaging Het
Micu1 A C 10: 59,663,128 (GRCm39) K353Q possibly damaging Het
Ntrk1 G A 3: 87,687,479 (GRCm39) R652W probably damaging Het
Or13a28 T A 7: 140,218,384 (GRCm39) F257I probably benign Het
Or13c7 T C 4: 43,855,152 (GRCm39) I281T probably benign Het
Or4c107 G A 2: 88,788,985 (GRCm39) M58I possibly damaging Het
Pcdh15 C A 10: 74,066,091 (GRCm39) T252K probably damaging Het
Pcsk5 T C 19: 17,434,193 (GRCm39) M1392V probably benign Het
Phf20 T A 2: 156,149,214 (GRCm39) V964E probably damaging Het
Pira13 G A 7: 3,825,622 (GRCm39) L416F probably benign Het
Plcg2 T C 8: 118,325,234 (GRCm39) probably null Het
Rnf10 A T 5: 115,382,127 (GRCm39) C693S probably benign Het
Rnf19b A G 4: 128,952,617 (GRCm39) Y185C probably damaging Het
Ros1 G T 10: 51,999,385 (GRCm39) D1167E probably damaging Het
Sidt2 G A 9: 45,853,497 (GRCm39) S701L probably damaging Het
Slc66a2 C T 18: 80,306,658 (GRCm39) P76L probably damaging Het
Spag1 T C 15: 36,200,430 (GRCm39) I345T probably damaging Het
Srcap T A 7: 127,141,211 (GRCm39) S1603T possibly damaging Het
Stag1 T A 9: 100,678,831 (GRCm39) Y251N probably damaging Het
Stxbp5 T C 10: 9,776,330 (GRCm39) N33S probably benign Het
Tnrc6a T C 7: 122,769,299 (GRCm39) L363P probably damaging Het
U2surp C T 9: 95,361,357 (GRCm39) R591H possibly damaging Het
Usf3 A G 16: 44,041,109 (GRCm39) N1863S possibly damaging Het
Vmn2r15 T C 5: 109,434,806 (GRCm39) I633V possibly damaging Het
Zfp979 T C 4: 147,698,067 (GRCm39) D214G probably 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
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
R8375:Mpv17l UTSW 16 13,758,863 (GRCm39) missense probably benign 0.06
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'- GTGCCAACTGAACTATATTTGCAG -3'
(R):5'- TAAGTCCTGGCTCCTAACCC -3'

Sequencing Primer
(F):5'- TTAATTCTGAGACAGGGGCTCAC -3'
(R):5'- GGCTCCTAACCCCCTCATCAC -3'
Posted On 2016-12-15