Incidental Mutation 'R2098:Ptchd3'
ID230387
Institutional Source Beutler Lab
Gene Symbol Ptchd3
Ensembl Gene ENSMUSG00000039198
Gene Namepatched domain containing 3
Synonyms4933440L20Rik, 4930451E13Rik
MMRRC Submission 040102-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2098 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location121830247-121843423 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121842479 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 732 (C732R)
Ref Sequence ENSEMBL: ENSMUSP00000035709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036690]
Predicted Effect probably damaging
Transcript: ENSMUST00000036690
AA Change: C732R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035709
Gene: ENSMUSG00000039198
AA Change: C732R

DomainStartEndE-ValueType
Pfam:Patched 121 906 1.2e-177 PFAM
Pfam:Sterol-sensing 363 508 3.4e-41 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,036,579 E1316G probably damaging Het
Arhgap32 C A 9: 32,259,911 T1329K probably damaging Het
Arhgef10l G C 4: 140,579,432 L104V probably damaging Het
Bend3 T C 10: 43,510,504 S298P probably damaging Het
Cacna1b C T 2: 24,650,546 V1385M probably damaging Het
Camk2d G A 3: 126,780,442 G166D probably damaging Het
Cd84 G A 1: 171,885,581 C291Y probably benign Het
Cdhr2 A G 13: 54,715,644 I113V probably benign Het
Cfap206 G A 4: 34,719,053 Q318* probably null Het
Chd9 C T 8: 91,033,987 P2120L probably benign Het
Cyth1 T A 11: 118,193,653 I25F probably damaging Het
D3Ertd254e T A 3: 36,166,140 S771T probably benign Het
Dock2 A T 11: 34,266,279 N1208K probably benign Het
Dock2 A G 11: 34,719,005 S203P probably damaging Het
Ehbp1l1 G T 19: 5,708,658 T1652K possibly damaging Het
Eps8l2 G A 7: 141,355,792 probably null Het
Gm10250 A G 15: 5,120,814 probably benign Het
Gm9772 T C 17: 22,006,637 H94R probably benign Het
Hspg2 G A 4: 137,520,109 G1184D probably damaging Het
Igfn1 T A 1: 135,978,305 D255V probably damaging Het
Marf1 T C 16: 14,114,200 H1651R probably benign Het
Mllt10 T C 2: 18,162,653 V385A possibly damaging Het
Mmp1b G A 9: 7,386,984 S76L probably benign Het
Mrps2 C A 2: 28,468,315 T39K probably benign Het
Myo6 T C 9: 80,281,526 Y715H probably damaging Het
Nsun7 A G 5: 66,283,712 E392G probably damaging Het
Obscn C T 11: 59,069,991 E3374K probably damaging Het
Oit1 T C 14: 8,361,479 I47V probably benign Het
Olfr1136 A T 2: 87,693,729 M51K probably benign Het
Olfr1206 A T 2: 88,864,871 I89F probably benign Het
Olfr434 G A 6: 43,217,503 V197I probably benign Het
Olfr684 A G 7: 105,157,271 V137A probably benign Het
Pkd2 C T 5: 104,478,902 P317S probably damaging Het
Prl5a1 T C 13: 28,145,505 S56P probably damaging Het
Psmd1 A G 1: 86,082,101 probably null Het
Rad51c A T 11: 87,402,763 V71E probably benign Het
Scn11a A T 9: 119,792,494 I619K possibly damaging Het
Sgpp1 T G 12: 75,716,510 D299A probably damaging Het
Slc16a4 C A 3: 107,300,847 Y224* probably null Het
Slc22a30 G A 19: 8,400,811 S167L probably damaging Het
Slc6a5 T C 7: 49,945,567 I559T probably damaging Het
Spire1 A G 18: 67,503,466 F364L probably damaging Het
Srek1 G A 13: 103,744,855 T421I unknown Het
St8sia4 T C 1: 95,653,528 H163R probably damaging Het
Supt6 A G 11: 78,213,261 probably null Het
Tas2r103 T C 6: 133,036,597 T169A probably benign Het
Thrap3 A G 4: 126,180,030 S308P probably damaging Het
V1rd19 C T 7: 24,003,735 L209F probably damaging Het
Other mutations in Ptchd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Ptchd3 APN 11 121831146 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AATCTCACAGAGTTTTGGTTGGAG -3'
(R):5'- TAGCAAAAGTGACCCACAGG -3'

Sequencing Primer
(F):5'- TAGCAGCGGAAATAATCCTAATGAC -3'
(R):5'- CCACAGGGAACACACTGGATG -3'
Posted On2014-09-18