Incidental Mutation 'IGL01286:Ptchd1'
ID 72724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptchd1
Ensembl Gene ENSMUSG00000041552
Gene Name patched domain containing 1
Synonyms 9630036J22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01286
Quality Score
Status
Chromosome X
Chromosomal Location 154356451-154406810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154357820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 462 (T462A)
Ref Sequence ENSEMBL: ENSMUSP00000039443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038665] [ENSMUST00000170236]
AlphaFold Q14B62
Predicted Effect possibly damaging
Transcript: ENSMUST00000038665
AA Change: T462A

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000039443
Gene: ENSMUSG00000041552
AA Change: T462A

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Patched 50 851 1.2e-103 PFAM
Pfam:Sterol-sensing 292 444 3.1e-24 PFAM
low complexity region 853 867 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170236
SMART Domains Protein: ENSMUSP00000132293
Gene: ENSMUSG00000041552

DomainStartEndE-ValueType
low complexity region 86 102 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011]
PHENOTYPE: Male mice hemizygous for a knock-out allele exhibit impaired thalamic reticular neuron electrophysiology, highly fragmented sleep patterns, hyperactivity, impaired contextual and cued behavior, impaired avoidance learning, abnormal gait, hypotonia and hyperaggression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,629,578 (GRCm39) C214S possibly damaging Het
Ankrd26 A T 6: 118,536,068 (GRCm39) V122E probably damaging Het
Blnk T C 19: 40,922,950 (GRCm39) K389R probably benign Het
Cdcp3 A T 7: 130,848,432 (GRCm39) N862I probably damaging Het
Cdh11 T A 8: 103,391,261 (GRCm39) Q325L probably damaging Het
Cep112 T C 11: 108,750,235 (GRCm39) probably null Het
Cmtr2 T A 8: 110,949,484 (GRCm39) I598N possibly damaging Het
Col1a2 A C 6: 4,533,891 (GRCm39) E857D unknown Het
Col2a1 G A 15: 97,892,759 (GRCm39) P237L unknown Het
Commd2 G A 3: 57,558,143 (GRCm39) T66M probably benign Het
Cyp2c50 A T 19: 40,080,728 (GRCm39) K241N probably benign Het
Fbxo2 A G 4: 148,250,163 (GRCm39) N231S probably benign Het
Grm5 T C 7: 87,251,773 (GRCm39) S8P probably benign Het
Ip6k1 A G 9: 107,923,082 (GRCm39) T405A probably benign Het
Kel G T 6: 41,665,051 (GRCm39) probably null Het
Lin54 T C 5: 100,633,466 (GRCm39) T73A probably benign Het
Nek1 T A 8: 61,577,250 (GRCm39) V1052D possibly damaging Het
Or4p22 T A 2: 88,317,592 (GRCm39) I172K probably damaging Het
Or6c6 T A 10: 129,186,519 (GRCm39) L29H probably damaging Het
Pcid2 T C 8: 13,140,660 (GRCm39) D155G probably damaging Het
Pxdn A G 12: 30,032,753 (GRCm39) E179G probably benign Het
Rfc2 T C 5: 134,618,243 (GRCm39) L82P probably damaging Het
Sh3rf2 T C 18: 42,272,676 (GRCm39) probably null Het
Sis A T 3: 72,848,358 (GRCm39) W639R probably damaging Het
Tbcd T C 11: 121,384,719 (GRCm39) probably null Het
Tert G A 13: 73,776,416 (GRCm39) R389H possibly damaging Het
Tns3 C T 11: 8,442,617 (GRCm39) S582N probably benign Het
Tssk2 C T 16: 17,716,822 (GRCm39) T75I probably benign Het
Txnl4a C T 18: 80,261,956 (GRCm39) T64I probably benign Het
Xpot T C 10: 121,438,243 (GRCm39) D782G probably benign Het
Other mutations in Ptchd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02108:Ptchd1 APN X 154,356,548 (GRCm39) missense probably damaging 0.99
IGL02214:Ptchd1 APN X 154,356,706 (GRCm39) missense possibly damaging 0.46
IGL03217:Ptchd1 APN X 154,356,955 (GRCm39) missense probably damaging 1.00
R6979:Ptchd1 UTSW X 154,357,708 (GRCm39) missense probably damaging 1.00
R7035:Ptchd1 UTSW X 154,357,708 (GRCm39) missense probably damaging 1.00
R7036:Ptchd1 UTSW X 154,357,708 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07