Incidental Mutation 'IGL03217:Ptchd1'
ID 413506
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 # IGL03217
Quality Score
Status
Chromosome X
Chromosomal Location 154356451-154406810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154356955 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q14B62
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

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,258,430 (GRCm39) I29T probably damaging Het
Adam2 G A 14: 66,272,262 (GRCm39) P640L possibly damaging Het
Ccl4 T C 11: 83,553,504 (GRCm39) S6P unknown Het
Cd300lf T A 11: 115,015,117 (GRCm39) T151S possibly damaging Het
Elk4 A G 1: 131,945,778 (GRCm39) T219A probably benign Het
Eml1 G T 12: 108,501,201 (GRCm39) E680D probably benign Het
Gm9755 T C 8: 67,967,035 (GRCm39) noncoding transcript Het
Hmcn1 A T 1: 150,619,418 (GRCm39) I1232N possibly damaging Het
Maml2 T C 9: 13,531,295 (GRCm39) S170P probably damaging Het
Mettl16 T A 11: 74,708,529 (GRCm39) M536K probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nxf2 T C X: 133,856,281 (GRCm39) I287V probably benign Het
Nyap2 A G 1: 81,065,039 (GRCm39) D17G probably damaging Het
Pde6b T C 5: 108,567,432 (GRCm39) C270R probably damaging Het
Rrn3 G A 16: 13,626,875 (GRCm39) E490K possibly damaging Het
Slc27a2 G A 2: 126,428,172 (GRCm39) G519D possibly damaging Het
Sox5 A G 6: 143,853,223 (GRCm39) S352P probably damaging Het
Spart G T 3: 55,035,912 (GRCm39) probably benign Het
Sult1e1 T C 5: 87,737,947 (GRCm39) T45A possibly damaging Het
Tat G A 8: 110,721,818 (GRCm39) V242I probably benign Het
Zfp442 A G 2: 150,251,714 (GRCm39) probably benign Het
Other mutations in Ptchd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Ptchd1 APN X 154,357,820 (GRCm39) missense possibly damaging 0.46
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
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 2016-08-02