Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01084:Ptch1'

52547

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptch1

Ensembl Gene

ENSMUSG00000021466

Gene Name

patched 1

Synonyms

wig, Ptc, Ptc1, A230106A15Rik, Patched 1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01084

Quality Score

Status

Chromosome

Chromosomal Location

63656142-63721274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63691451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 267 (E267D)

Ref Sequence

ENSEMBL: ENSMUSP00000141298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021921] [ENSMUST00000192155] [ENSMUST00000193953] [ENSMUST00000194663] [ENSMUST00000195106] [ENSMUST00000195258] [ENSMUST00000195756]

AlphaFold

Q61115

Predicted Effect

probably benign
Transcript: ENSMUST00000021921
AA Change: E252D

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000021921
Gene: ENSMUSG00000021466
AA Change: E252D

Domain	Start	End	E-Value	Type
low complexity region	4	30	N/A	INTRINSIC
Pfam:Patched	351	871	7.6e-47	PFAM
Pfam:Sterol-sensing	448	602	1.5e-45	PFAM
Pfam:Patched	952	1166	9.8e-33	PFAM
low complexity region	1180	1189	N/A	INTRINSIC
low complexity region	1204	1213	N/A	INTRINSIC
low complexity region	1281	1296	N/A	INTRINSIC
low complexity region	1355	1367	N/A	INTRINSIC
low complexity region	1369	1384	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192155
AA Change: E115D

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000141489
Gene: ENSMUSG00000021466
AA Change: E115D

Domain	Start	End	E-Value	Type
Pfam:Patched	214	733	3.1e-44	PFAM
Pfam:Sterol-sensing	311	465	2.8e-46	PFAM
Pfam:Patched	814	1029	3.1e-30	PFAM
low complexity region	1043	1052	N/A	INTRINSIC
low complexity region	1067	1076	N/A	INTRINSIC
low complexity region	1144	1159	N/A	INTRINSIC
low complexity region	1218	1230	N/A	INTRINSIC
low complexity region	1232	1247	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193953
AA Change: E115D

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194663
AA Change: E200D

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141766
Gene: ENSMUSG00000021466
AA Change: E200D

Domain	Start	End	E-Value	Type
Pfam:Patched	298	569	4.7e-34	PFAM
Pfam:Sterol-sensing	396	550	7.9e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000195106
AA Change: E267D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141298
Gene: ENSMUSG00000021466
AA Change: E267D

Domain	Start	End	E-Value	Type
low complexity region	38	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195258
AA Change: E145D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000141309
Gene: ENSMUSG00000021466
AA Change: E145D

Domain	Start	End	E-Value	Type
Pfam:Patched	212	426	7.8e-28	PFAM
Pfam:Sterol-sensing	311	426	8e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195756
AA Change: E115D

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223515

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 member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos die by day 10 with neural tube defects. Heterozygotes are large with excess cerebellar granule cell proliferation and sometimes, hindlimb defects and medulloblastomas. Hypomorphic and spontaneous mutants have reproductive defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,546,901 (GRCm39)	Q284K	probably damaging	Het
Adgrd1	A	T	5: 129,216,656 (GRCm39)	N341I	probably benign	Het
Arhgap40	T	C	2: 158,385,138 (GRCm39)	F457S	probably damaging	Het
Cacng5	C	T	11: 107,772,531 (GRCm39)	V106I	probably benign	Het
Catsper1	G	A	19: 5,387,800 (GRCm39)	V360M	probably damaging	Het
Cdc42bpa	T	A	1: 179,969,839 (GRCm39)		probably benign	Het
Cep250	C	T	2: 155,840,313 (GRCm39)	H2424Y	probably benign	Het
Cln3	T	C	7: 126,174,426 (GRCm39)	E304G	probably damaging	Het
Eml2	T	A	7: 18,924,663 (GRCm39)	C177*	probably null	Het
Epha5	G	A	5: 84,218,946 (GRCm39)	R917*	probably null	Het
Gabra2	A	G	5: 71,163,576 (GRCm39)	F244L	probably damaging	Het
Gars1	C	A	6: 55,032,812 (GRCm39)	D261E	probably benign	Het
Gata3os	A	G	2: 9,887,884 (GRCm39)		probably benign	Het
Keg1	A	G	19: 12,691,976 (GRCm39)	K98E	probably damaging	Het
Kif13a	A	G	13: 46,904,110 (GRCm39)		probably benign	Het
Matn1	A	G	4: 130,679,245 (GRCm39)	K300E	probably benign	Het
Mesp1	A	G	7: 79,442,831 (GRCm39)	S149P	probably benign	Het
Mmp10	T	C	9: 7,505,651 (GRCm39)	V305A	possibly damaging	Het
Muc5b	T	C	7: 141,397,186 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,924,884 (GRCm39)	T1181A	probably damaging	Het
Or1r1	A	T	11: 73,875,353 (GRCm39)	L27Q	probably damaging	Het
Or5d35	T	C	2: 87,855,347 (GRCm39)	S94P	probably benign	Het
Or9i16	G	T	19: 13,864,866 (GRCm39)	T236N	probably damaging	Het
Osbpl11	T	C	16: 33,047,221 (GRCm39)		probably benign	Het
Prune2	T	C	19: 17,095,573 (GRCm39)	V359A	probably benign	Het
Rbl2	A	G	8: 91,848,941 (GRCm39)	E1049G	probably damaging	Het
Ruvbl2	A	T	7: 45,071,947 (GRCm39)		probably null	Het
Sec23b	A	G	2: 144,406,509 (GRCm39)	I101M	possibly damaging	Het
Srms	A	C	2: 180,848,177 (GRCm39)		probably null	Het
Svep1	T	A	4: 58,111,419 (GRCm39)	T1067S	possibly damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tmem127	T	C	2: 127,099,006 (GRCm39)	V180A	probably damaging	Het
Trpm7	A	G	2: 126,687,992 (GRCm39)		probably null	Het
Trpv3	G	A	11: 73,184,826 (GRCm39)		probably null	Het
Tti1	C	T	2: 157,824,379 (GRCm39)	V1025I	probably damaging	Het
Vmn2r80	A	G	10: 79,030,433 (GRCm39)	Y753C	probably damaging	Het
Vps13d	A	G	4: 144,881,525 (GRCm39)	L1350S	probably benign	Het
Zfp287	G	T	11: 62,604,716 (GRCm39)	Y730*	probably null	Het
Zfp583	A	G	7: 6,320,184 (GRCm39)	F276S	probably damaging	Het
Zfp638	T	C	6: 83,921,780 (GRCm39)	Y636H	probably benign	Het

Other mutations in Ptch1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Ptch1	APN	13	63,674,989 (GRCm39)	missense	probably benign	0.00
IGL01369:Ptch1	APN	13	63,659,495 (GRCm39)	missense	probably benign
IGL02260:Ptch1	APN	13	63,713,166 (GRCm39)	unclassified	probably benign
IGL02439:Ptch1	APN	13	63,692,910 (GRCm39)	missense	probably damaging	1.00
IGL02588:Ptch1	APN	13	63,659,732 (GRCm39)	missense	probably benign	0.13
IGL02797:Ptch1	APN	13	63,681,421 (GRCm39)	missense	probably benign
R0463:Ptch1	UTSW	13	63,668,121 (GRCm39)	missense	probably damaging	0.98
R0539:Ptch1	UTSW	13	63,691,294 (GRCm39)	splice site	probably benign
R0657:Ptch1	UTSW	13	63,661,565 (GRCm39)	missense	possibly damaging	0.90
R0971:Ptch1	UTSW	13	63,687,657 (GRCm39)	missense	probably benign	0.23
R1466:Ptch1	UTSW	13	63,672,783 (GRCm39)	missense	probably benign	0.02
R1466:Ptch1	UTSW	13	63,672,783 (GRCm39)	missense	probably benign	0.02
R1539:Ptch1	UTSW	13	63,689,101 (GRCm39)	missense	probably benign	0.00
R1616:Ptch1	UTSW	13	63,687,656 (GRCm39)	missense	possibly damaging	0.96
R1883:Ptch1	UTSW	13	63,659,841 (GRCm39)	nonsense	probably null
R1985:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R1986:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2024:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2025:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2026:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2027:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2096:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2097:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2100:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2105:Ptch1	UTSW	13	63,693,059 (GRCm39)	missense	probably benign
R2165:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2166:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2167:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2168:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2226:Ptch1	UTSW	13	63,661,485 (GRCm39)	missense	probably damaging	1.00
R2437:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2504:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2507:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2696:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2698:Ptch1	UTSW	13	63,690,038 (GRCm39)	missense	probably damaging	1.00
R2698:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R2971:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R3410:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R3708:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R3744:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R3745:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R3783:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R3784:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R3785:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R3807:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R3950:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R4013:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R4015:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R4016:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R4017:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R4035:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R4083:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R4084:Ptch1	UTSW	13	63,672,773 (GRCm39)	missense	probably benign	0.00
R4179:Ptch1	UTSW	13	63,682,143 (GRCm39)	missense	probably damaging	1.00
R4222:Ptch1	UTSW	13	63,682,143 (GRCm39)	missense	probably damaging	1.00
R4348:Ptch1	UTSW	13	63,682,143 (GRCm39)	missense	probably damaging	1.00
R4349:Ptch1	UTSW	13	63,682,143 (GRCm39)	missense	probably damaging	1.00
R4350:Ptch1	UTSW	13	63,682,143 (GRCm39)	missense	probably damaging	1.00
R4351:Ptch1	UTSW	13	63,682,143 (GRCm39)	missense	probably damaging	1.00
R4353:Ptch1	UTSW	13	63,682,143 (GRCm39)	missense	probably damaging	1.00
R4485:Ptch1	UTSW	13	63,682,143 (GRCm39)	missense	probably damaging	1.00
R4595:Ptch1	UTSW	13	63,691,422 (GRCm39)	missense	possibly damaging	0.68
R4625:Ptch1	UTSW	13	63,670,978 (GRCm39)	missense	probably benign	0.02
R4809:Ptch1	UTSW	13	63,661,522 (GRCm39)	missense	probably damaging	0.98
R4904:Ptch1	UTSW	13	63,670,818 (GRCm39)	missense	probably damaging	1.00
R4911:Ptch1	UTSW	13	63,670,866 (GRCm39)	missense	probably damaging	1.00
R4942:Ptch1	UTSW	13	63,672,884 (GRCm39)	missense	probably benign	0.02
R5386:Ptch1	UTSW	13	63,692,857 (GRCm39)	missense	probably damaging	0.98
R5447:Ptch1	UTSW	13	63,675,059 (GRCm39)	missense	probably benign
R5604:Ptch1	UTSW	13	63,672,936 (GRCm39)	missense	probably benign	0.01
R5846:Ptch1	UTSW	13	63,713,268 (GRCm39)	unclassified	probably benign
R5926:Ptch1	UTSW	13	63,692,869 (GRCm39)	missense	probably benign	0.01
R5945:Ptch1	UTSW	13	63,721,233 (GRCm39)	utr 5 prime	probably benign
R5957:Ptch1	UTSW	13	63,672,929 (GRCm39)	missense	probably damaging	1.00
R6326:Ptch1	UTSW	13	63,691,359 (GRCm39)	missense	probably damaging	1.00
R6358:Ptch1	UTSW	13	63,661,503 (GRCm39)	missense	probably damaging	0.96
R6376:Ptch1	UTSW	13	63,691,422 (GRCm39)	missense	possibly damaging	0.68
R6599:Ptch1	UTSW	13	63,670,918 (GRCm39)	missense	probably damaging	0.98
R6615:Ptch1	UTSW	13	63,687,644 (GRCm39)	missense	possibly damaging	0.46
R6965:Ptch1	UTSW	13	63,672,881 (GRCm39)	missense	possibly damaging	0.63
R7149:Ptch1	UTSW	13	63,659,550 (GRCm39)	missense	probably benign	0.23
R7168:Ptch1	UTSW	13	63,659,874 (GRCm39)	missense	probably benign
R7257:Ptch1	UTSW	13	63,721,108 (GRCm39)	missense	not run
R7258:Ptch1	UTSW	13	63,721,108 (GRCm39)	missense	not run
R7259:Ptch1	UTSW	13	63,721,108 (GRCm39)	missense	not run
R7368:Ptch1	UTSW	13	63,659,798 (GRCm39)	missense	probably benign	0.06
R7525:Ptch1	UTSW	13	63,659,528 (GRCm39)	missense	probably benign	0.00
R7528:Ptch1	UTSW	13	63,659,528 (GRCm39)	missense	probably benign	0.00
R7820:Ptch1	UTSW	13	63,670,875 (GRCm39)	missense	probably damaging	1.00
R8077:Ptch1	UTSW	13	63,688,626 (GRCm39)	missense	probably damaging	0.98
R8373:Ptch1	UTSW	13	63,688,982 (GRCm39)	missense	probably damaging	1.00
R8398:Ptch1	UTSW	13	63,672,939 (GRCm39)	missense	probably benign	0.06
R8407:Ptch1	UTSW	13	63,662,057 (GRCm39)	missense	probably null	1.00
R8839:Ptch1	UTSW	13	63,689,038 (GRCm39)	missense	probably damaging	1.00
R9075:Ptch1	UTSW	13	63,681,335 (GRCm39)	missense	possibly damaging	0.87
R9476:Ptch1	UTSW	13	63,681,448 (GRCm39)	missense	probably benign	0.05
R9514:Ptch1	UTSW	13	63,675,071 (GRCm39)	missense	probably benign
R9528:Ptch1	UTSW	13	63,661,615 (GRCm39)	missense	probably benign	0.00
R9568:Ptch1	UTSW	13	63,689,987 (GRCm39)	missense	probably damaging	0.99
Z1177:Ptch1	UTSW	13	63,668,093 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-06-21