Incidental Mutation 'R2265:Pjvk'
ID 244044
Institutional Source Beutler Lab
Gene Symbol Pjvk
Ensembl Gene ENSMUSG00000075267
Gene Name pejvakin
Synonyms LOC381375, pejvakin, Dfnb59
MMRRC Submission 040265-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R2265 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 76480617-76488898 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 76487797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 230 (S230A)
Ref Sequence ENSEMBL: ENSMUSP00000097566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099986] [ENSMUST00000144817]
AlphaFold Q0ZLH2
Predicted Effect possibly damaging
Transcript: ENSMUST00000099986
AA Change: S230A

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097566
Gene: ENSMUSG00000075267
AA Change: S230A

DomainStartEndE-ValueType
Pfam:Gasdermin 1 278 7.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144817
SMART Domains Protein: ENSMUSP00000119264
Gene: ENSMUSG00000075267

DomainStartEndE-ValueType
Pfam:Gasdermin 1 184 2.2e-34 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T C 1: 12,042,328 (GRCm39) probably null Het
Aadac T A 3: 59,944,737 (GRCm39) D136E probably damaging Het
Abca16 A G 7: 120,030,383 (GRCm39) D165G probably benign Het
Adam24 T A 8: 41,133,110 (GRCm39) S193T possibly damaging Het
Adra2b T C 2: 127,205,791 (GRCm39) S103P probably damaging Het
Agrn C T 4: 156,263,675 (GRCm39) G173R probably damaging Het
Alg11 T A 8: 22,555,630 (GRCm39) V255E probably benign Het
Aox1 C A 1: 58,120,679 (GRCm39) D857E probably damaging Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Bdkrb2 A G 12: 105,558,484 (GRCm39) T242A probably benign Het
Cdca7 T C 2: 72,312,834 (GRCm39) L190P probably benign Het
Cenpe A G 3: 134,967,397 (GRCm39) T2180A probably benign Het
Cep41 T A 6: 30,660,915 (GRCm39) I126F possibly damaging Het
Col16a1 C A 4: 129,946,711 (GRCm39) H111Q probably benign Het
Cops3 T C 11: 59,718,716 (GRCm39) T193A probably benign Het
Dbr1 G A 9: 99,461,463 (GRCm39) V153M probably damaging Het
Ddx4 A G 13: 112,757,810 (GRCm39) Y290H probably benign Het
Dgkb T A 12: 38,240,107 (GRCm39) S461R possibly damaging Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dnajc28 T C 16: 91,413,200 (GRCm39) N372S probably benign Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Dock3 C A 9: 106,818,525 (GRCm39) V1190F probably damaging Het
Exosc1 A G 19: 41,919,857 (GRCm39) S54P probably damaging Het
Fbxw22 C T 9: 109,213,062 (GRCm39) R295K probably benign Het
Foxo1 T C 3: 52,253,333 (GRCm39) S499P probably benign Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hspa2 T G 12: 76,452,962 (GRCm39) I552S probably benign Het
Imp4 T A 1: 34,482,928 (GRCm39) I173N probably damaging Het
Itgal A G 7: 126,905,873 (GRCm39) I352V possibly damaging Het
Kcnh6 G A 11: 105,924,643 (GRCm39) R816Q probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kcnip3 G T 2: 127,306,981 (GRCm39) A173D probably benign Het
Kir3dl1 A G X: 135,425,784 (GRCm39) R53G probably benign Het
Klhl31 A G 9: 77,557,440 (GRCm39) D52G possibly damaging Het
Klk1b21 T C 7: 43,753,863 (GRCm39) I49T possibly damaging Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lilrb4a T A 10: 51,367,633 (GRCm39) Y58* probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mpdz A G 4: 81,301,628 (GRCm39) S266P probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mroh7 T C 4: 106,578,124 (GRCm39) N185D probably benign Het
Mybphl A G 3: 108,272,317 (GRCm39) E2G probably damaging Het
Mycbp2 T C 14: 103,500,185 (GRCm39) D937G probably benign Het
Myo18b A G 5: 112,930,539 (GRCm39) M1799T probably damaging Het
Nr4a2 T A 2: 57,002,018 (GRCm39) D145V possibly damaging Het
Ntmt1 C A 2: 30,710,472 (GRCm39) N58K probably benign Het
Or10ak16 A T 4: 118,751,071 (GRCm39) R264W probably damaging Het
Or2m12 A G 16: 19,105,305 (GRCm39) Y63H probably damaging Het
Or4f54 A G 2: 111,123,524 (GRCm39) T304A probably benign Het
Or51f1d G A 7: 102,701,344 (GRCm39) V280I probably benign Het
Or52n20 T C 7: 104,320,067 (GRCm39) F53L probably benign Het
Or8k28 T C 2: 86,286,558 (GRCm39) Y19C possibly damaging Het
Ovch2 A T 7: 107,383,782 (GRCm39) M521K probably damaging Het
P2ry13 T C 3: 59,117,449 (GRCm39) M110V probably damaging Het
P2ry14 T C 3: 59,022,992 (GRCm39) N165S probably damaging Het
Pcdhb19 A T 18: 37,630,736 (GRCm39) H177L probably damaging Het
Phf8 T C X: 150,355,597 (GRCm39) L520S possibly damaging Het
Plch2 T C 4: 155,077,461 (GRCm39) E423G probably benign Het
Rad9b T C 5: 122,489,405 (GRCm39) Y41C probably damaging Het
Ranbp3l A T 15: 9,057,194 (GRCm39) I286F probably damaging Het
Rtel1 T A 2: 180,996,161 (GRCm39) V739D probably damaging Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Spg11 A T 2: 121,938,788 (GRCm39) C389S possibly damaging Het
Srsf4 T C 4: 131,624,993 (GRCm39) V130A probably damaging Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Tas2r117 T A 6: 132,780,188 (GRCm39) C109S probably benign Het
Tlr5 T A 1: 182,802,600 (GRCm39) S635T possibly damaging Het
Ttc21a G T 9: 119,788,074 (GRCm39) C833F possibly damaging Het
Vash2 T C 1: 190,682,410 (GRCm39) N347D probably damaging Het
Vcp G A 4: 42,980,833 (GRCm39) A759V possibly damaging Het
Vmn2r18 T C 5: 151,510,127 (GRCm39) E82G probably damaging Het
Vps13c T C 9: 67,828,229 (GRCm39) V1461A possibly damaging Het
Zfp616 T C 11: 73,976,289 (GRCm39) Y853H 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
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
R8475:Pjvk UTSW 2 76,480,901 (GRCm39) missense probably benign
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'- CACTGTGTGGCTTTAATCTCTGAA -3'
(R):5'- AAGGGAGAAGAATGCATTCCC -3'

Sequencing Primer
(F):5'- GTGGCTTTAATCTCTGAATTTTGTAC -3'
(R):5'- CTTGGGAATAGTTCTACCCAGGAC -3'
Posted On 2014-10-16