Incidental Mutation 'IGL01537:Ptcd2'
ID89985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptcd2
Ensembl Gene ENSMUSG00000021650
Gene Namepentatricopeptide repeat domain 2
Synonyms1190005P08Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.256) question?
Stock #IGL01537
Quality Score
Status
Chromosome13
Chromosomal Location99319647-99344705 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 99330013 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 224 (I224N)
Ref Sequence ENSEMBL: ENSMUSP00000022153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022153]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022153
AA Change: I224N

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022153
Gene: ENSMUSG00000021650
AA Change: I224N

DomainStartEndE-ValueType
Pfam:MRP-S27 20 228 1.2e-15 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit abnormal mitochondrial morphology and physiology, especially in the heart, liver, skeletal muscle and kidney. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn1l T C 8: 109,732,680 R317G probably benign Het
B130006D01Rik T A 11: 95,726,166 probably benign Het
Brinp2 T C 1: 158,246,809 T581A probably damaging Het
Cacna1b A T 2: 24,658,528 I1179N probably damaging Het
Cacnb3 A G 15: 98,643,420 D434G probably damaging Het
Cdh19 T C 1: 110,919,611 T423A possibly damaging Het
Chkb C T 15: 89,427,783 probably benign Het
Cit T C 5: 115,933,854 Y623H probably benign Het
Clstn3 G A 6: 124,431,600 R918C possibly damaging Het
Dnah2 T A 11: 69,516,080 M200L probably benign Het
Dnah9 T A 11: 65,947,680 H3097L probably benign Het
Dst T A 1: 34,275,320 L4217H probably damaging Het
Fam107b T A 2: 3,778,528 L80Q probably damaging Het
Fgfr1 T A 8: 25,555,579 C55S probably damaging Het
Igkv4-71 C A 6: 69,243,280 G78* probably null Het
Igsf10 A G 3: 59,330,031 S910P probably benign Het
Ikzf3 T C 11: 98,516,892 D41G probably damaging Het
Larp1 T A 11: 58,042,822 I358N possibly damaging Het
March5 C T 19: 37,210,668 probably benign Het
Mpdz T C 4: 81,369,658 T455A probably damaging Het
Myo1b A G 1: 51,776,351 V612A possibly damaging Het
Nipbl T C 15: 8,350,539 D923G probably benign Het
Nlrp4b T C 7: 10,714,991 F7L probably damaging Het
Npas4 T C 19: 4,987,327 N313S possibly damaging Het
Nynrin T A 14: 55,872,045 N1536K possibly damaging Het
Olfr1212 T C 2: 88,958,541 V25A probably benign Het
Olfr535 A G 7: 140,492,838 N67D probably damaging Het
Olfr975 T A 9: 39,950,625 T49S probably benign Het
Papd7 A T 13: 69,500,559 S693T probably benign Het
Pclo T C 5: 14,539,633 V649A unknown Het
Pom121 A G 5: 135,392,535 probably benign Het
Rsrp1 C T 4: 134,923,979 P18L unknown Het
Sash1 A T 10: 8,729,658 N989K probably damaging Het
Scn2a T A 2: 65,715,875 H927Q probably benign Het
Selenoi G T 5: 30,256,224 V128F probably damaging Het
Slc25a42 T C 8: 70,189,442 I117V probably benign Het
Spata1 A G 3: 146,489,803 probably benign Het
Sptlc3 A T 2: 139,589,695 Y379F possibly damaging Het
Tinag C T 9: 77,045,603 R33K probably benign Het
Trappc8 T C 18: 20,835,004 D1092G probably benign Het
Xntrpc A G 7: 102,073,194 E22G probably damaging Het
Zbtb7b A G 3: 89,379,971 M397T possibly damaging Het
Zgpat A G 2: 181,378,889 D285G probably benign Het
Other mutations in Ptcd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Ptcd2 APN 13 99330065 missense probably benign 0.11
IGL01819:Ptcd2 APN 13 99326711 missense possibly damaging 0.78
IGL03368:Ptcd2 APN 13 99330069 splice site probably benign
PIT4431001:Ptcd2 UTSW 13 99340019 nonsense probably null
R0276:Ptcd2 UTSW 13 99321596 missense probably benign 0.16
R0411:Ptcd2 UTSW 13 99343391 missense probably damaging 1.00
R1381:Ptcd2 UTSW 13 99344597 missense probably benign 0.01
R2007:Ptcd2 UTSW 13 99320236 missense probably damaging 0.99
R4059:Ptcd2 UTSW 13 99344576 missense probably damaging 0.99
R4094:Ptcd2 UTSW 13 99332449 missense probably damaging 0.99
R7594:Ptcd2 UTSW 13 99320282 missense possibly damaging 0.81
R7616:Ptcd2 UTSW 13 99344699 unclassified probably benign
Posted On2013-12-03