Incidental Mutation 'IGL00091:Ptchd3'
ID1098
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptchd3
Ensembl Gene ENSMUSG00000039198
Gene Namepatched domain containing 3
Synonyms4933440L20Rik, 4930451E13Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00091
Quality Score
Status
Chromosome11
Chromosomal Location121830247-121843423 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 121831146 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 282 (Y282N)
Ref Sequence ENSEMBL: ENSMUSP00000035709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036690]
Predicted Effect probably damaging
Transcript: ENSMUST00000036690
AA Change: Y282N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035709
Gene: ENSMUSG00000039198
AA Change: Y282N

DomainStartEndE-ValueType
Pfam:Patched 121 906 1.2e-177 PFAM
Pfam:Sterol-sensing 363 508 3.4e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126556
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,883,428 Y400F probably benign Het
Adamts8 C A 9: 30,953,500 T429K probably damaging Het
Adgrv1 C T 13: 81,578,101 D602N probably damaging Het
Ano7 A T 1: 93,402,166 H775L probably benign Het
Apoo-ps A T 13: 107,414,634 noncoding transcript Het
Arid2 T C 15: 96,372,302 V1432A probably benign Het
Atoh1 T C 6: 64,729,584 S88P possibly damaging Het
C130050O18Rik A G 5: 139,414,846 E218G probably damaging Het
Cacna2d1 T A 5: 16,212,944 F155L probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cyp1a2 G T 9: 57,682,069 S154* probably null Het
Cyp3a25 A T 5: 146,001,463 Y68* probably null Het
Dmbt1 C A 7: 131,079,540 probably benign Het
Dnajc22 T A 15: 99,101,178 F81L possibly damaging Het
Eml5 G A 12: 98,873,209 probably benign Het
Fpgs A T 2: 32,686,547 probably benign Het
Gab2 T C 7: 97,302,443 S537P possibly damaging Het
Gmds G A 13: 32,234,390 S37L probably damaging Het
Ipo13 T C 4: 117,903,405 E626G probably benign Het
Kcng1 T C 2: 168,268,764 H160R probably benign Het
Lama3 A G 18: 12,580,292 T1608A probably benign Het
Lama4 A C 10: 39,072,805 S855R probably damaging Het
Ltbp1 C T 17: 75,225,338 H454Y probably damaging Het
Map3k14 C A 11: 103,227,579 G594C probably damaging Het
Mcph1 A G 8: 18,632,620 N591S possibly damaging Het
Moxd1 G A 10: 24,279,864 V289I probably damaging Het
Mptx2 T G 1: 173,274,888 N78T probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Nup50 T A 15: 84,935,404 F293Y probably benign Het
Ogn A G 13: 49,621,038 Y219C probably damaging Het
Pdia3 T C 2: 121,414,178 L47P probably damaging Het
Piwil4 A T 9: 14,703,097 D786E probably damaging Het
Pspc1 A G 14: 56,771,711 L222P probably damaging Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Serpini2 T C 3: 75,249,242 Y327C probably damaging Het
Spire2 A G 8: 123,354,059 D14G probably damaging Het
Stab2 A T 10: 86,869,206 probably null Het
Timeless T C 10: 128,241,708 L219P probably damaging Het
Tmem63a C T 1: 180,963,088 T437M probably damaging Het
Tslp A G 18: 32,815,395 probably benign Het
Ttbk2 C A 2: 120,748,833 G534* probably null Het
Uggt1 T C 1: 36,179,552 probably benign Het
Vmn2r118 T C 17: 55,592,708 E732G probably damaging Het
Zfhx2 G A 14: 55,066,565 P1321S possibly damaging Het
Zfp58 A G 13: 67,490,995 V459A probably benign Het
Zfp831 T C 2: 174,645,658 S709P possibly damaging Het
Other mutations in Ptchd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01459:Ptchd3 APN 11 121830420 missense probably benign 0.00
IGL02815:Ptchd3 APN 11 121841604 missense probably benign 0.03
PIT4418001:Ptchd3 UTSW 11 121841740 nonsense probably null
PIT4791001:Ptchd3 UTSW 11 121832049 missense probably damaging 0.98
R0018:Ptchd3 UTSW 11 121842344 missense probably benign
R0068:Ptchd3 UTSW 11 121842972 missense probably damaging 1.00
R0068:Ptchd3 UTSW 11 121842972 missense probably damaging 1.00
R0316:Ptchd3 UTSW 11 121842090 missense possibly damaging 0.91
R0331:Ptchd3 UTSW 11 121842191 missense probably benign 0.00
R0715:Ptchd3 UTSW 11 121831158 missense possibly damaging 0.90
R1200:Ptchd3 UTSW 11 121831261 critical splice donor site probably null
R1595:Ptchd3 UTSW 11 121830594 missense probably damaging 1.00
R1763:Ptchd3 UTSW 11 121842542 missense probably benign 0.00
R1792:Ptchd3 UTSW 11 121841551 nonsense probably null
R2098:Ptchd3 UTSW 11 121842479 missense probably damaging 1.00
R4120:Ptchd3 UTSW 11 121830746 missense probably damaging 1.00
R4533:Ptchd3 UTSW 11 121836431 missense probably damaging 1.00
R4702:Ptchd3 UTSW 11 121836409 missense probably damaging 1.00
R4761:Ptchd3 UTSW 11 121836398 missense possibly damaging 0.95
R4868:Ptchd3 UTSW 11 121831057 missense possibly damaging 0.85
R4948:Ptchd3 UTSW 11 121842516 missense probably damaging 1.00
R5092:Ptchd3 UTSW 11 121831146 missense probably damaging 1.00
R5954:Ptchd3 UTSW 11 121836587 intron probably benign
R6199:Ptchd3 UTSW 11 121831082 missense probably benign 0.17
R6431:Ptchd3 UTSW 11 121836403 missense probably benign 0.06
R6484:Ptchd3 UTSW 11 121842938 missense possibly damaging 0.91
R7936:Ptchd3 UTSW 11 121831113 nonsense probably null
R8120:Ptchd3 UTSW 11 121842208 missense probably benign 0.00
R8311:Ptchd3 UTSW 11 121836473 missense possibly damaging 0.88
Z1176:Ptchd3 UTSW 11 121836476 missense possibly damaging 0.65
Posted On2011-07-12