Incidental Mutation 'R8475:Pjvk'
ID 657206
Institutional Source Beutler Lab
Gene Symbol Pjvk
Ensembl Gene ENSMUSG00000075267
Gene Name pejvakin
Synonyms LOC381375, pejvakin, Dfnb59
MMRRC Submission 067919-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R8475 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 76480617-76488898 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76480901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 40 (F40L)
Ref Sequence ENSEMBL: ENSMUSP00000114409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002808] [ENSMUST00000099986] [ENSMUST00000144817] [ENSMUST00000153471]
AlphaFold Q0ZLH2
Predicted Effect probably benign
Transcript: ENSMUST00000002808
SMART Domains Protein: ENSMUSP00000002808
Gene: ENSMUSG00000002731

DomainStartEndE-ValueType
DSRM 35 100 4.63e-24 SMART
DSRM 127 193 2.23e-17 SMART
DSRM 241 307 1.16e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099986
AA Change: F46L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097566
Gene: ENSMUSG00000075267
AA Change: F46L

DomainStartEndE-ValueType
Pfam:Gasdermin 1 278 7.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144817
AA Change: F46L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119264
Gene: ENSMUSG00000075267
AA Change: F46L

DomainStartEndE-ValueType
Pfam:Gasdermin 1 184 2.2e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153471
AA Change: F40L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114409
Gene: ENSMUSG00000075267
AA Change: F40L

DomainStartEndE-ValueType
Pfam:Gasdermin 1 68 3.1e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a point mutation display increased auditory thresholds. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik G A 5: 138,561,188 (GRCm39) T158M probably benign Het
Adamts14 T C 10: 61,038,666 (GRCm39) E945G probably damaging Het
Adgrl3 T C 5: 81,871,976 (GRCm39) V958A probably benign Het
Adh6a T C 3: 138,030,979 (GRCm39) I156T probably benign Het
Akt1 A G 12: 112,624,863 (GRCm39) V201A possibly damaging Het
Als2cl C G 9: 110,715,484 (GRCm39) A182G possibly damaging Het
Amn T A 12: 111,241,819 (GRCm39) L295Q probably benign Het
Dbf4 A G 5: 8,448,664 (GRCm39) probably benign Het
Depdc7 G A 2: 104,552,314 (GRCm39) R498C probably benign Het
Eogt A T 6: 97,122,327 (GRCm39) Y35* probably null Het
Epb41l1 T G 2: 156,364,150 (GRCm39) S886R probably damaging Het
Fshr A T 17: 89,293,456 (GRCm39) D407E probably damaging Het
Gngt1 C A 6: 3,994,262 (GRCm39) D13E probably benign Het
Grxcr1 T C 5: 68,323,484 (GRCm39) L254P possibly damaging Het
Itga11 A G 9: 62,651,327 (GRCm39) D290G probably damaging Het
Klf16 A G 10: 80,412,719 (GRCm39) S106P probably benign Het
Klk1b5 A G 7: 43,500,204 (GRCm39) D264G possibly damaging Het
Lama2 C T 10: 26,977,369 (GRCm39) V1937M possibly damaging Het
Lipi T A 16: 75,370,862 (GRCm39) K118N probably benign Het
Manba G A 3: 135,217,573 (GRCm39) V130I probably benign Het
Map2 A G 1: 66,453,164 (GRCm39) S527G probably damaging Het
Masp1 C A 16: 23,271,281 (GRCm39) V656L probably damaging Het
Mrpl10 A T 11: 96,938,261 (GRCm39) N137I probably benign Het
Mtfmt C A 9: 65,359,469 (GRCm39) N381K probably benign Het
Myo18b A T 5: 113,021,422 (GRCm39) Y546* probably null Het
Nectin4 C T 1: 171,212,280 (GRCm39) R293* probably null Het
Nudt3 A G 17: 27,799,776 (GRCm39) S136P possibly damaging Het
Or14c39 A C 7: 86,344,361 (GRCm39) R232S probably benign Het
Or1q1 G A 2: 36,887,066 (GRCm39) M81I probably damaging Het
Or4a81 T C 2: 89,619,586 (GRCm39) M37V probably benign Het
Or52h7 A G 7: 104,214,066 (GRCm39) M213V probably benign Het
Or9m2 T C 2: 87,820,536 (GRCm39) L27P probably damaging Het
Oxnad1 A G 14: 31,823,250 (GRCm39) probably null Het
Parn A G 16: 13,425,113 (GRCm39) probably null Het
Pcdha12 T C 18: 37,154,136 (GRCm39) V285A possibly damaging Het
Pfkfb2 G C 1: 130,624,816 (GRCm39) Q515E probably benign Het
Pygo2 A G 3: 89,340,697 (GRCm39) Y328C probably damaging Het
Rapgef5 A C 12: 117,681,965 (GRCm39) K215Q probably damaging Het
Sephs1 T A 2: 4,893,821 (GRCm39) probably null Het
Slc12a9 C A 5: 137,313,737 (GRCm39) V741L probably benign Het
Spmip4 A G 6: 50,566,107 (GRCm39) Y123H probably damaging Het
Tbx21 A T 11: 96,990,808 (GRCm39) V290D possibly damaging Het
Tep1 C A 14: 51,078,712 (GRCm39) G1514W probably damaging Het
Vmn2r16 T C 5: 109,487,073 (GRCm39) M98T probably benign Het
Zfr A G 15: 12,150,455 (GRCm39) N474S probably benign Het
Zpbp T C 11: 11,365,203 (GRCm39) K215E possibly damaging Het
Other mutations in Pjvk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01797:Pjvk APN 2 76,487,883 (GRCm39) unclassified probably benign
IGL01805:Pjvk APN 2 76,487,858 (GRCm39) missense probably benign 0.11
IGL01821:Pjvk APN 2 76,486,259 (GRCm39) missense probably damaging 0.96
IGL02850:Pjvk APN 2 76,488,795 (GRCm39) missense possibly damaging 0.85
R1757:Pjvk UTSW 2 76,486,232 (GRCm39) missense probably benign
R1851:Pjvk UTSW 2 76,487,775 (GRCm39) critical splice acceptor site probably null
R2152:Pjvk UTSW 2 76,488,713 (GRCm39) missense probably benign 0.10
R2265:Pjvk UTSW 2 76,487,797 (GRCm39) missense possibly damaging 0.84
R4439:Pjvk UTSW 2 76,481,750 (GRCm39) missense probably damaging 1.00
R5207:Pjvk UTSW 2 76,480,734 (GRCm39) critical splice acceptor site probably null
R5381:Pjvk UTSW 2 76,481,904 (GRCm39) splice site probably null
R5819:Pjvk UTSW 2 76,488,713 (GRCm39) missense probably benign
R6165:Pjvk UTSW 2 76,480,562 (GRCm39) splice site probably null
R7148:Pjvk UTSW 2 76,488,831 (GRCm39) missense possibly damaging 0.86
R7559:Pjvk UTSW 2 76,486,154 (GRCm39) missense probably benign 0.07
R7573:Pjvk UTSW 2 76,487,809 (GRCm39) missense probably benign 0.03
R7772:Pjvk UTSW 2 76,487,877 (GRCm39) critical splice donor site probably null
R9665:Pjvk UTSW 2 76,487,827 (GRCm39) missense probably benign
X0026:Pjvk UTSW 2 76,480,878 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GGGTCGCAGTTGATGACATC -3'
(R):5'- AAGTTCAATCTTCCAGTGCCCAC -3'

Sequencing Primer
(F):5'- CTTGATATTAATATGTTTGCTGCTGC -3'
(R):5'- AGACACATCATTTTTCTAAGCCC -3'
Posted On 2021-01-18