Mutagenetix > Incidental Mutation

Incidental Mutation 'R4350:Ptch1'

328477

Institutional Source

Beutler Lab

Gene Symbol

Ptch1

Ensembl Gene

ENSMUSG00000021466

Gene Name

patched 1

Synonyms

wig, Ptc, Ptc1, A230106A15Rik, Patched 1

MMRRC Submission

041105-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4350 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63656142-63721274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63682143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 537 (R537H)

Ref Sequence

ENSEMBL: ENSMUSP00000141766 (fasta)

Gene Model

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

AlphaFold

Q61115

Predicted Effect

probably damaging
Transcript: ENSMUST00000021921
AA Change: R589H

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021921
Gene: ENSMUSG00000021466
AA Change: R589H

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

possibly damaging
Transcript: ENSMUST00000192155
AA Change: R452H

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141489
Gene: ENSMUSG00000021466
AA Change: R452H

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

probably damaging
Transcript: ENSMUST00000194663
AA Change: R537H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141766
Gene: ENSMUSG00000021466
AA Change: R537H

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 benign
Transcript: ENSMUST00000195258

SMART Domains

Protein: ENSMUSP00000141309
Gene: ENSMUSG00000021466

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223515

Meta Mutation Damage Score

0.2232

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,498,020 (GRCm39)		probably null	Het
Adamts1	T	A	16: 85,599,234 (GRCm39)	D122V	probably benign	Het
Ap3d1	T	C	10: 80,555,119 (GRCm39)	D402G	probably benign	Het
Ccdc88b	T	C	19: 6,827,640 (GRCm39)	E954G	probably damaging	Het
Cdh20	A	G	1: 104,906,814 (GRCm39)	D547G	probably damaging	Het
Cst13	A	G	2: 148,672,169 (GRCm39)	M115V	probably benign	Het
Ctr9	T	A	7: 110,648,525 (GRCm39)	Y722N	probably damaging	Het
Dvl3	T	C	16: 20,344,394 (GRCm39)	Y257H	possibly damaging	Het
Dzip1	T	C	14: 119,120,938 (GRCm39)	D673G	probably benign	Het
Enah	A	T	1: 181,749,985 (GRCm39)	S266T	possibly damaging	Het
Epha7	T	C	4: 28,950,393 (GRCm39)	V732A	probably damaging	Het
F13b	A	G	1: 139,444,036 (GRCm39)	I457V	probably benign	Het
Fam98a	A	G	17: 75,848,220 (GRCm39)	F165L	probably damaging	Het
Gcn1	G	T	5: 115,741,389 (GRCm39)	R1476L	probably damaging	Het
Gfy	T	C	7: 44,827,040 (GRCm39)	E352G	probably benign	Het
Inava	C	T	1: 136,153,946 (GRCm39)	V180I	probably damaging	Het
Lyn	G	A	4: 3,789,796 (GRCm39)	R443H	probably damaging	Het
Mecom	C	A	3: 30,020,887 (GRCm39)	V452L	possibly damaging	Het
Msh6	A	G	17: 88,292,012 (GRCm39)	S256G	probably damaging	Het
Ncor1	A	G	11: 62,301,644 (GRCm39)		probably null	Het
Pabpc4	C	T	4: 123,184,060 (GRCm39)	T191I	probably damaging	Het
Rchy1	T	C	5: 92,105,813 (GRCm39)	D45G	probably damaging	Het
Rftn2	T	C	1: 55,233,440 (GRCm39)	T372A	probably damaging	Het
Rlf	G	A	4: 121,006,293 (GRCm39)	P896S	probably benign	Het
Rnf31	AAC	A	14: 55,838,555 (GRCm39)		probably null	Het
Rpl7a-ps3	T	C	15: 36,308,283 (GRCm39)		noncoding transcript	Het
Sox7	A	G	14: 64,185,995 (GRCm39)	T344A	probably benign	Het
Sppl2b	T	C	10: 80,698,560 (GRCm39)	Y127H	probably benign	Het
Srsf12	T	C	4: 33,223,612 (GRCm39)	V37A	possibly damaging	Het
Sst	A	G	16: 23,708,565 (GRCm39)	S89P	probably damaging	Het
Svil	T	A	18: 5,118,154 (GRCm39)	C1705S	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubgcp3	T	C	8: 12,691,117 (GRCm39)	T474A	probably benign	Het
Tubgcp6	G	A	15: 88,988,198 (GRCm39)	P925L	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
IGL01084:Ptch1	APN	13	63,691,451 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCCTGCCTGTATCTAAAAC -3'
(R):5'- GAAGAGCCTCCTATCTGCTATCTC -3'

Sequencing Primer
(F):5'- AAAACCTTTGTTTAGTCCCATCACAC -3'
(R):5'- ACGTGATGCACATCCTTTCAGG -3'

Posted On

2015-07-07