Incidental Mutation 'IGL03217:Ptchd1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptchd1
Ensembl Gene ENSMUSG00000041552
Gene Namepatched domain containing 1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03217
Quality Score
Chromosomal Location155573455-155623814 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 155573959 bp
Amino Acid Change Aspartic acid to Glycine at position 750 (D750G)
Ref Sequence ENSEMBL: ENSMUSP00000039443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038665] [ENSMUST00000170236]
Predicted Effect probably damaging
Transcript: ENSMUST00000038665
AA Change: D750G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039443
Gene: ENSMUSG00000041552
AA Change: D750G

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

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,349,995 I29T probably damaging Het
Adam2 G A 14: 66,034,813 P640L possibly damaging Het
Ccl4 T C 11: 83,662,678 S6P unknown Het
Cd300lf T A 11: 115,124,291 T151S possibly damaging Het
Elk4 A G 1: 132,018,040 T219A probably benign Het
Eml1 G T 12: 108,534,942 E680D probably benign Het
Gm9755 T C 8: 67,514,383 noncoding transcript Het
Hmcn1 A T 1: 150,743,667 I1232N possibly damaging Het
Maml2 T C 9: 13,619,999 S170P probably damaging Het
Mettl16 T A 11: 74,817,703 M536K probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nxf2 T C X: 134,955,532 I287V probably benign Het
Nyap2 A G 1: 81,087,322 D17G probably damaging Het
Pde6b T C 5: 108,419,566 C270R probably damaging Het
Rrn3 G A 16: 13,809,011 E490K possibly damaging Het
Slc27a2 G A 2: 126,586,252 G519D possibly damaging Het
Sox5 A G 6: 143,907,497 S352P probably damaging Het
Spg20 G T 3: 55,128,491 probably benign Het
Sult1e1 T C 5: 87,590,088 T45A possibly damaging Het
Tat G A 8: 109,995,186 V242I probably benign Het
Zfp442 A G 2: 150,409,794 probably benign Het
Other mutations in Ptchd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Ptchd1 APN X 155574824 missense possibly damaging 0.46
IGL02108:Ptchd1 APN X 155573552 missense probably damaging 0.99
IGL02214:Ptchd1 APN X 155573710 missense possibly damaging 0.46
R6979:Ptchd1 UTSW X 155574712 missense probably damaging 1.00
R7035:Ptchd1 UTSW X 155574712 missense probably damaging 1.00
R7036:Ptchd1 UTSW X 155574712 missense probably damaging 1.00
Posted On2016-08-02