Incidental Mutation 'R7191:Mpzl3'
ID 559602
Institutional Source Beutler Lab
Gene Symbol Mpzl3
Ensembl Gene ENSMUSG00000070305
Gene Name myelin protein zero-like 3
Synonyms rc, 5430427F17Rik, ruf, A530065I17Rik
MMRRC Submission 045274-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R7191 (G1)
Quality Score 207.009
Status Validated
Chromosome 9
Chromosomal Location 44966484-44988734 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to G at 44966542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 1 (M1R)
Ref Sequence ENSEMBL: ENSMUSP00000110312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034600] [ENSMUST00000114663] [ENSMUST00000114664]
AlphaFold Q3V3F6
Predicted Effect probably benign
Transcript: ENSMUST00000034600
SMART Domains Protein: ENSMUSP00000034600
Gene: ENSMUSG00000032092

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IGv 42 125 9.05e-11 SMART
transmembrane domain 153 175 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000114663
AA Change: M1R

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000110311
Gene: ENSMUSG00000070305
AA Change: M1R

DomainStartEndE-ValueType
IG 38 149 3.35e-5 SMART
Blast:IG_like 150 230 6e-26 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000114664
AA Change: M1R

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000110312
Gene: ENSMUSG00000070305
AA Change: M1R

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IG 38 149 3.35e-5 SMART
Blast:IG_like 150 229 3e-25 BLAST
Meta Mutation Damage Score 0.9538 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (52/52)
MGI Phenotype PHENOTYPE: Mice homozygous for a spontaneous allele have a rough coat that becomes brittle and oily with age, and display stunted growth, cyclic and progressive hair loss, hyperplastic epidermis, abnormal hair follicles, myocardial degeneration, and reduced collagen and elastin content in the skin and heart. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T A 16: 21,472,314 (GRCm39) I129F probably benign Het
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Ank2 T A 3: 126,740,041 (GRCm39) T1948S unknown Het
Arap1 T C 7: 101,034,199 (GRCm39) C214R probably benign Het
Ccdc82 C T 9: 13,252,097 (GRCm39) Q130* probably null Het
Cfh A C 1: 140,040,305 (GRCm39) V597G probably benign Het
Clp1 A T 2: 84,554,490 (GRCm39) C226* probably null Het
Cyp39a1 G A 17: 44,041,910 (GRCm39) W372* probably null Het
Dchs1 G A 7: 105,414,646 (GRCm39) P799S possibly damaging Het
Dmbt1 A T 7: 130,646,250 (GRCm39) N167I unknown Het
Dock10 A G 1: 80,518,048 (GRCm39) S1310P possibly damaging Het
Fam83h C T 15: 75,874,886 (GRCm39) G817D probably damaging Het
Fras1 A G 5: 96,762,771 (GRCm39) T758A probably benign Het
Fryl T C 5: 73,230,255 (GRCm39) H1634R probably damaging Het
Gcg C G 2: 62,307,183 (GRCm39) G126A probably damaging Het
Get1 A G 16: 95,953,145 (GRCm39) I79V possibly damaging Het
Gne T C 4: 44,040,266 (GRCm39) K633E probably benign Het
Gpr4 T C 7: 18,957,155 (GRCm39) V359A probably benign Het
Gprc5c C T 11: 114,759,443 (GRCm39) T422M possibly damaging Het
Gria2 C A 3: 80,639,392 (GRCm39) V207L probably benign Het
Hid1 T C 11: 115,239,295 (GRCm39) *789W probably null Het
Iigp1c A T 18: 60,379,329 (GRCm39) D288V probably benign Het
Jakmip3 G A 7: 138,591,257 (GRCm39) probably null Het
Kin G A 2: 10,096,604 (GRCm39) R151Q probably benign Het
Krt16 T C 11: 100,137,484 (GRCm39) E407G probably damaging Het
Krt81 T C 15: 101,358,110 (GRCm39) D381G probably damaging Het
Lrrc34 C T 3: 30,679,027 (GRCm39) G357S possibly damaging Het
Lypd11 C T 7: 24,422,759 (GRCm39) V105I possibly damaging Het
Mipol1 A G 12: 57,503,852 (GRCm39) Q340R probably benign Het
Nrcam A G 12: 44,619,027 (GRCm39) N852S probably benign Het
Nudcd2 C T 11: 40,627,430 (GRCm39) Q117* probably null Het
Nup35 A T 2: 80,488,723 (GRCm39) E320V probably damaging Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or5p56 G A 7: 107,589,853 (GRCm39) V94M possibly damaging Het
Pkhd1 T C 1: 20,628,943 (GRCm39) H668R probably benign Het
Ptprc T A 1: 138,028,782 (GRCm39) D333V probably benign Het
Rdh16 A G 10: 127,649,287 (GRCm39) K248E probably benign Het
Samd4b C A 7: 28,113,686 (GRCm39) G93V probably benign Het
Scgn A G 13: 24,165,476 (GRCm39) I78T probably benign Het
Slfn14 T C 11: 83,167,575 (GRCm39) I647V probably benign Het
Smyd5 T C 6: 85,417,093 (GRCm39) V157A probably benign Het
Syde2 T C 3: 145,708,113 (GRCm39) M951T probably benign Het
Tas2r105 T C 6: 131,663,945 (GRCm39) N161S probably damaging Het
Tbck T C 3: 132,443,316 (GRCm39) F581L probably damaging Het
Traip A G 9: 107,847,216 (GRCm39) N352D probably benign Het
Trim29 A G 9: 43,222,906 (GRCm39) Y245C probably damaging Het
Trpv4 T C 5: 114,771,201 (GRCm39) I443V probably benign Het
Usp36 C T 11: 118,159,660 (GRCm39) E595K probably benign Het
Vmn2r51 T A 7: 9,834,480 (GRCm39) Y186F probably null Het
Vmn2r97 A G 17: 19,150,548 (GRCm39) Y465C probably damaging Het
Zfp277 A T 12: 40,379,561 (GRCm39) H324Q probably damaging Het
Zfp987 A G 4: 146,058,473 (GRCm39) D17G probably damaging Het
Other mutations in Mpzl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02420:Mpzl3 APN 9 44,977,815 (GRCm39) missense possibly damaging 0.95
IGL02969:Mpzl3 APN 9 44,979,514 (GRCm39) missense probably benign 0.00
mausolus UTSW 9 44,979,550 (GRCm39) missense probably damaging 1.00
satrap UTSW 9 44,966,542 (GRCm39) start codon destroyed probably null 0.06
R0069:Mpzl3 UTSW 9 44,979,550 (GRCm39) missense probably damaging 1.00
R0196:Mpzl3 UTSW 9 44,973,458 (GRCm39) missense probably damaging 0.98
R0557:Mpzl3 UTSW 9 44,977,806 (GRCm39) missense probably damaging 1.00
R1511:Mpzl3 UTSW 9 44,977,827 (GRCm39) missense probably damaging 0.99
R4580:Mpzl3 UTSW 9 44,979,529 (GRCm39) missense possibly damaging 0.94
R4775:Mpzl3 UTSW 9 44,977,730 (GRCm39) missense probably damaging 1.00
R4825:Mpzl3 UTSW 9 44,979,627 (GRCm39) missense probably benign 0.00
R4972:Mpzl3 UTSW 9 44,973,554 (GRCm39) intron probably benign
R5189:Mpzl3 UTSW 9 44,973,408 (GRCm39) missense possibly damaging 0.95
R5371:Mpzl3 UTSW 9 44,966,510 (GRCm39) utr 5 prime probably benign
R5925:Mpzl3 UTSW 9 44,973,412 (GRCm39) missense probably damaging 1.00
R7561:Mpzl3 UTSW 9 44,966,610 (GRCm39) missense probably benign
R7570:Mpzl3 UTSW 9 44,981,985 (GRCm39) missense probably benign
R9057:Mpzl3 UTSW 9 44,979,592 (GRCm39) missense probably damaging 1.00
R9101:Mpzl3 UTSW 9 44,981,983 (GRCm39) missense possibly damaging 0.65
R9400:Mpzl3 UTSW 9 44,986,077 (GRCm39) missense possibly damaging 0.59
R9579:Mpzl3 UTSW 9 44,973,350 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GAACCGCTGATGAGGGTAAC -3'
(R):5'- AAGTCTCACAAGGTGGTCGG -3'

Sequencing Primer
(F):5'- CCGGGTACGATTCTAGTAACAATC -3'
(R):5'- GGAACCAACTCTCCGCAGTG -3'
Posted On 2019-06-26