Mutagenetix > Incidental Mutation

Incidental Mutation 'R6358:Ptch1'

513358

Institutional Source

Beutler Lab

Gene Symbol

Ptch1

Ensembl Gene

ENSMUSG00000021466

Gene Name

patched 1

Synonyms

wig, Ptc, Ptc1, A230106A15Rik, Patched 1

MMRRC Submission

044508-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6358 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63656142-63721274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 63661503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1212 (S1212R)

Ref Sequence

ENSEMBL: ENSMUSP00000021921 (fasta)

Gene Model

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

AlphaFold

Q61115

Predicted Effect

probably damaging
Transcript: ENSMUST00000021921
AA Change: S1212R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021921
Gene: ENSMUSG00000021466
AA Change: S1212R

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: S1075R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141489
Gene: ENSMUSG00000021466
AA Change: S1075R

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 benign
Transcript: ENSMUST00000194663

SMART Domains

Protein: ENSMUSP00000141766
Gene: ENSMUSG00000021466

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: ENSMUST00000222040

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 41,279,718 (GRCm39)	V703A	probably benign	Het
Adgrv1	T	A	13: 81,562,702 (GRCm39)	Q5389L	probably damaging	Het
Aldh18a1	A	T	19: 40,566,122 (GRCm39)	I42N	possibly damaging	Het
Ankrd28	A	C	14: 31,432,821 (GRCm39)	C575W	probably damaging	Het
Car14	T	A	3: 95,805,487 (GRCm39)	T329S	possibly damaging	Het
Cdhr2	T	C	13: 54,884,359 (GRCm39)	F1298S	probably damaging	Het
Crhr2	A	G	6: 55,070,028 (GRCm39)	I341T	probably benign	Het
D5Ertd579e	T	A	5: 36,773,580 (GRCm39)		probably null	Het
Eif1ad3	A	G	12: 87,843,770 (GRCm39)	E139G	unknown	Het
Emilin1	A	G	5: 31,075,562 (GRCm39)	E601G	probably damaging	Het
Erbin	T	A	13: 103,982,073 (GRCm39)	Q456L	probably damaging	Het
Glp1r	T	C	17: 31,151,618 (GRCm39)	V405A	probably benign	Het
Gm10220	C	G	5: 26,325,303 (GRCm39)		probably null	Het
Gm527	A	T	12: 64,970,322 (GRCm39)	H219L	possibly damaging	Het
Gorasp2	T	A	2: 70,503,104 (GRCm39)	M1K	probably null	Het
H2-DMa	T	A	17: 34,356,958 (GRCm39)	L152H	probably damaging	Het
Hsd3b7	T	A	7: 127,400,709 (GRCm39)	H54Q	probably damaging	Het
Hspa12b	T	C	2: 130,978,986 (GRCm39)		probably benign	Het
Iars1	C	A	13: 49,880,619 (GRCm39)	T1006K	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,718 (GRCm39)	V1357A	probably benign	Het
Magi3	T	C	3: 103,958,268 (GRCm39)	M606V	probably damaging	Het
Mia	T	C	7: 26,880,403 (GRCm39)	D24G	probably benign	Het
Mon2	A	T	10: 122,849,409 (GRCm39)	L1297Q	probably damaging	Het
Musk	T	A	4: 58,373,171 (GRCm39)	S691T	possibly damaging	Het
Myo5c	A	T	9: 75,203,294 (GRCm39)	E1463D	possibly damaging	Het
Ndufs6	C	T	13: 73,468,438 (GRCm39)	G87D	probably damaging	Het
Npnt	C	T	3: 132,610,479 (GRCm39)	V415I	probably benign	Het
Ntsr2	A	G	12: 16,706,769 (GRCm39)	I266V	probably benign	Het
Or11j4	A	T	14: 50,630,845 (GRCm39)	I211F	possibly damaging	Het
Or5aq7	T	C	2: 86,938,778 (GRCm39)		probably benign	Het
Pkmyt1	T	A	17: 23,952,630 (GRCm39)		probably null	Het
Polr1e	T	C	4: 45,026,813 (GRCm39)	L166P	probably damaging	Het
Ppib	T	G	9: 65,968,756 (GRCm39)	F48C	probably damaging	Het
Ppl	C	A	16: 4,905,793 (GRCm39)	E1501*	probably null	Het
Prpf8	T	C	11: 75,382,321 (GRCm39)	V384A	probably benign	Het
Ralb	C	A	1: 119,403,735 (GRCm39)	D131Y	probably damaging	Het
Rfx4	T	A	10: 84,680,099 (GRCm39)	M141K	probably damaging	Het
Rgl2	T	A	17: 34,156,105 (GRCm39)		probably null	Het
Rpl27	A	G	11: 101,334,782 (GRCm39)		probably benign	Het
Sdc1	A	C	12: 8,841,297 (GRCm39)	T213P	probably damaging	Het
Setx	T	A	2: 29,061,360 (GRCm39)	N2256K	possibly damaging	Het
Shank2	A	G	7: 143,585,034 (GRCm39)	M12V	probably benign	Het
Slc22a28	T	A	19: 8,049,253 (GRCm39)	K332M	probably damaging	Het
Slf2	A	T	19: 44,923,864 (GRCm39)	H226L	probably benign	Het
Tbc1d10b	T	C	7: 126,802,584 (GRCm39)	S362G	probably benign	Het
Tbxas1	G	A	6: 38,929,046 (GRCm39)		probably benign	Het
Tctn1	A	G	5: 122,399,575 (GRCm39)	V83A	probably damaging	Het
Tgm4	A	G	9: 122,885,583 (GRCm39)	E375G	probably damaging	Het
Tmeff2	T	A	1: 51,172,273 (GRCm39)	Y247*	probably null	Het
Tmem167b	C	T	3: 108,466,211 (GRCm39)	R79H	possibly damaging	Het
Tmprss7	T	G	16: 45,489,936 (GRCm39)	M429L	probably benign	Het
Tnfsf18	T	A	1: 161,331,148 (GRCm39)	D99E	probably benign	Het
Tnrc18	A	T	5: 142,713,736 (GRCm39)	S2534T	probably damaging	Het
Tnxb	A	G	17: 34,897,968 (GRCm39)	E872G	probably damaging	Het
Tomm40l	C	T	1: 171,047,206 (GRCm39)	V237I	possibly damaging	Het
Trbv2	A	G	6: 41,024,836 (GRCm39)	Q84R	probably benign	Het
Tspan18	T	C	2: 93,040,219 (GRCm39)	R179G	probably benign	Het
Tspan8	G	T	10: 115,669,132 (GRCm39)	V56L	probably benign	Het
Zbtb22	T	C	17: 34,137,711 (GRCm39)	S619P	probably damaging	Het
Zfp2	A	T	11: 50,791,428 (GRCm39)	I205N	probably damaging	Het
Zfpm1	A	G	8: 123,063,850 (GRCm39)		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
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
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'- AGTACACAAGAGCCTGCTCC -3'
(R):5'- CTGCGGGTCAACAAACGTAAC -3'

Sequencing Primer
(F):5'- TGCCACAGGACAAATGAATCTTC -3'
(R):5'- CGTAACATTTTTAATTGGAAACCTCC -3'

Posted On

2018-04-27