Incidental Mutation 'IGL01480:Ptch2'
ID 88577
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptch2
Ensembl Gene ENSMUSG00000028681
Gene Name patched 2
Synonyms ptc2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01480
Quality Score
Status
Chromosome 4
Chromosomal Location 116953272-116973298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116971279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1062 (V1062A)
Ref Sequence ENSEMBL: ENSMUSP00000030443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030443] [ENSMUST00000144620]
AlphaFold O35595
Predicted Effect probably damaging
Transcript: ENSMUST00000030443
AA Change: V1062A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030443
Gene: ENSMUSG00000028681
AA Change: V1062A

DomainStartEndE-ValueType
low complexity region 58 77 N/A INTRINSIC
low complexity region 251 262 N/A INTRINSIC
Pfam:Patched 338 831 1.6e-42 PFAM
Pfam:Sterol-sensing 418 570 9.5e-49 PFAM
Pfam:Patched 901 1116 2e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135133
Predicted Effect probably benign
Transcript: ENSMUST00000144620
SMART Domains Protein: ENSMUSP00000122548
Gene: ENSMUSG00000028681

DomainStartEndE-ValueType
low complexity region 58 77 N/A INTRINSIC
low complexity region 251 262 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the patched family of transmembrane receptor proteins. The encoded protein may be a functional receptor for the morphogen sonic hedgehog (Shh) and is reportedly involved in limb and skin development. Homozygous mutant mice for this gene exhibit hair loss and epidermal hyperplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Male mice homozygous for a targeted gene disruption display anemia, abnormal red blood cells, enlarged spleens, extramedullary hematopoiesis, and an increased percentage of neutrophils. Most male mice homozygous for another allele display alopecia and skin lesions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 T A 12: 88,423,635 (GRCm39) C379* probably null Het
Ankrd10 A G 8: 11,685,592 (GRCm39) V9A probably benign Het
Ankrd13a A T 5: 114,938,879 (GRCm39) probably benign Het
Bbs1 T C 19: 4,944,421 (GRCm39) K403E probably damaging Het
Ccn3 A G 15: 54,615,687 (GRCm39) Y284C probably damaging Het
Cd200r2 A G 16: 44,729,629 (GRCm39) I95V probably null Het
Cyba T C 8: 123,151,684 (GRCm39) E171G probably benign Het
Dnah2 T A 11: 69,349,197 (GRCm39) M2480L possibly damaging Het
Fxyd7 A T 7: 30,746,799 (GRCm39) Y20* probably null Het
Il22ra1 T C 4: 135,472,112 (GRCm39) V216A probably benign Het
Mapk10 G A 5: 103,074,018 (GRCm39) probably benign Het
Mgat5b C A 11: 116,869,278 (GRCm39) T607K probably benign Het
Optn G A 2: 5,050,829 (GRCm39) S184L probably benign Het
Or10d5 G A 9: 39,861,284 (GRCm39) A261V probably benign Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or1p1c A T 11: 74,160,427 (GRCm39) I71L possibly damaging Het
Or7a42 T C 10: 78,791,978 (GRCm39) probably benign Het
Plxna1 A G 6: 89,321,078 (GRCm39) L462P possibly damaging Het
Prkca C T 11: 108,083,027 (GRCm39) V73M probably damaging Het
Prkca A G 11: 107,877,115 (GRCm39) F339L possibly damaging Het
Serpina11 T A 12: 103,949,110 (GRCm39) K354* probably null Het
Sf1 T C 19: 6,422,052 (GRCm39) probably benign Het
Stam2 A G 2: 52,606,451 (GRCm39) S112P probably benign Het
Tlr5 G A 1: 182,801,064 (GRCm39) E123K probably benign Het
Tpp1 T C 7: 105,398,260 (GRCm39) E301G probably damaging Het
Vmn2r58 T A 7: 41,514,116 (GRCm39) I176F probably benign Het
Other mutations in Ptch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01684:Ptch2 APN 4 116,961,984 (GRCm39) missense probably damaging 1.00
IGL01967:Ptch2 APN 4 116,971,430 (GRCm39) splice site probably benign
IGL02449:Ptch2 APN 4 116,965,380 (GRCm39) missense possibly damaging 0.79
IGL02488:Ptch2 APN 4 116,967,593 (GRCm39) missense probably damaging 0.99
IGL02935:Ptch2 APN 4 116,971,967 (GRCm39) missense probably damaging 1.00
R0103:Ptch2 UTSW 4 116,966,622 (GRCm39) splice site probably benign
R0326:Ptch2 UTSW 4 116,966,081 (GRCm39) missense probably damaging 1.00
R0403:Ptch2 UTSW 4 116,968,036 (GRCm39) nonsense probably null
R0499:Ptch2 UTSW 4 116,968,340 (GRCm39) nonsense probably null
R0550:Ptch2 UTSW 4 116,953,630 (GRCm39) splice site probably benign
R0565:Ptch2 UTSW 4 116,963,340 (GRCm39) splice site probably benign
R1469:Ptch2 UTSW 4 116,965,662 (GRCm39) missense probably benign
R1469:Ptch2 UTSW 4 116,965,662 (GRCm39) missense probably benign
R1484:Ptch2 UTSW 4 116,968,046 (GRCm39) missense probably damaging 0.97
R1920:Ptch2 UTSW 4 116,965,858 (GRCm39) missense probably benign 0.09
R4080:Ptch2 UTSW 4 116,968,403 (GRCm39) missense probably damaging 1.00
R4611:Ptch2 UTSW 4 116,967,575 (GRCm39) missense probably benign 0.24
R5117:Ptch2 UTSW 4 116,963,146 (GRCm39) missense probably damaging 1.00
R5240:Ptch2 UTSW 4 116,963,335 (GRCm39) splice site probably benign
R5936:Ptch2 UTSW 4 116,965,491 (GRCm39) missense probably benign 0.39
R5987:Ptch2 UTSW 4 116,967,254 (GRCm39) missense probably benign 0.13
R6155:Ptch2 UTSW 4 116,954,105 (GRCm39) missense probably damaging 1.00
R7158:Ptch2 UTSW 4 116,971,981 (GRCm39) missense possibly damaging 0.76
R7196:Ptch2 UTSW 4 116,971,946 (GRCm39) missense probably benign 0.23
R7346:Ptch2 UTSW 4 116,971,849 (GRCm39) missense probably benign 0.40
R7380:Ptch2 UTSW 4 116,971,843 (GRCm39) missense possibly damaging 0.92
R7547:Ptch2 UTSW 4 116,967,161 (GRCm39) missense probably damaging 1.00
R7600:Ptch2 UTSW 4 116,953,422 (GRCm39) start gained probably benign
R7731:Ptch2 UTSW 4 116,965,492 (GRCm39) missense probably benign 0.09
R7836:Ptch2 UTSW 4 116,962,224 (GRCm39) splice site probably null
R7874:Ptch2 UTSW 4 116,963,161 (GRCm39) missense possibly damaging 0.83
R7881:Ptch2 UTSW 4 116,967,585 (GRCm39) missense probably benign
R7942:Ptch2 UTSW 4 116,963,198 (GRCm39) missense probably benign 0.01
R8426:Ptch2 UTSW 4 116,965,369 (GRCm39) missense possibly damaging 0.84
R8715:Ptch2 UTSW 4 116,968,719 (GRCm39) missense probably damaging 0.98
R8759:Ptch2 UTSW 4 116,967,630 (GRCm39) missense probably damaging 0.99
R9082:Ptch2 UTSW 4 116,962,297 (GRCm39) critical splice donor site probably null
R9276:Ptch2 UTSW 4 116,967,505 (GRCm39) missense probably damaging 0.97
R9336:Ptch2 UTSW 4 116,966,776 (GRCm39) missense possibly damaging 0.89
R9336:Ptch2 UTSW 4 116,954,197 (GRCm39) missense probably damaging 1.00
R9368:Ptch2 UTSW 4 116,961,969 (GRCm39) missense probably damaging 0.98
X0019:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0024:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0025:Ptch2 UTSW 4 116,954,183 (GRCm39) missense probably damaging 1.00
X0035:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0038:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0039:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0040:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0052:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0053:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0054:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0061:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
Posted On 2013-11-18