Mutagenetix > Incidental Mutation

Incidental Mutation 'R7528:Ptch1'

583144

Institutional Source

Beutler Lab

Gene Symbol

Ptch1

Ensembl Gene

ENSMUSG00000021466

Gene Name

patched 1

Synonyms

wig, Ptc, Ptc1, A230106A15Rik, Patched 1

MMRRC Submission

045600-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7528 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63656142-63721274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63659528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1375 (R1375H)

Ref Sequence

ENSEMBL: ENSMUSP00000021921 (fasta)

Gene Model

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

AlphaFold

Q61115

Predicted Effect

probably benign
Transcript: ENSMUST00000021921
AA Change: R1375H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021921
Gene: ENSMUSG00000021466
AA Change: R1375H

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: R1238H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141489
Gene: ENSMUSG00000021466
AA Change: R1238H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,767,317 (GRCm39)	E920G	probably damaging	Het
Acss2	A	C	2: 155,399,066 (GRCm39)	N443H	probably damaging	Het
Adam3	C	A	8: 25,167,279 (GRCm39)	A71S	unknown	Het
Agpat3	A	G	10: 78,123,746 (GRCm39)	L38P	probably damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Amtn	C	A	5: 88,526,711 (GRCm39)		probably null	Het
App	T	G	16: 84,775,146 (GRCm39)	Y497S	possibly damaging	Het
Bphl	T	A	13: 34,244,473 (GRCm39)	Y197N	probably damaging	Het
Btrc	T	A	19: 45,491,525 (GRCm39)	M160K	possibly damaging	Het
Ccdc181	A	C	1: 164,107,527 (GRCm39)	N70T	probably benign	Het
Cd55b	T	C	1: 130,347,473 (GRCm39)	N113D	possibly damaging	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Dnah2	T	C	11: 69,391,622 (GRCm39)	H691R	probably damaging	Het
Dnajc13	A	G	9: 104,056,164 (GRCm39)	V1579A	possibly damaging	Het
Dst	T	A	1: 34,333,603 (GRCm39)	F5030I	probably damaging	Het
Eppk1	G	A	15: 76,004,308 (GRCm39)		probably benign	Het
Fbxw4	T	C	19: 45,648,449 (GRCm39)	E7G	unknown	Het
Fos	T	A	12: 85,522,432 (GRCm39)	C154S	probably damaging	Het
Foxh1	A	G	15: 76,553,511 (GRCm39)	V97A	probably benign	Het
Gmeb1	G	A	4: 131,959,361 (GRCm39)	T231I	possibly damaging	Het
Golga3	T	A	5: 110,360,098 (GRCm39)	V1112E	probably damaging	Het
Gprin3	T	C	6: 59,331,017 (GRCm39)	D430G	possibly damaging	Het
Hpse2	T	C	19: 42,801,463 (GRCm39)	D441G	probably damaging	Het
Hydin	G	A	8: 111,107,204 (GRCm39)	W460*	probably null	Het
Ifi204	T	C	1: 173,579,406 (GRCm39)	I480V	probably benign	Het
Impg2	T	C	16: 56,080,743 (GRCm39)	V849A	possibly damaging	Het
Kars1	T	C	8: 112,737,866 (GRCm39)	D12G	probably benign	Het
Klhdc7a	A	T	4: 139,694,828 (GRCm39)	Y40N	probably damaging	Het
Krtap5-3	T	C	7: 141,755,219 (GRCm39)	C19R	unknown	Het
Macf1	G	A	4: 123,325,852 (GRCm39)	A5217V	possibly damaging	Het
Mlc1	A	T	15: 88,858,710 (GRCm39)	I146N	possibly damaging	Het
Myo3a	A	T	2: 22,270,925 (GRCm39)	R129*	probably null	Het
Nsun4	G	T	4: 115,891,391 (GRCm39)	Y329*	probably null	Het
Or4k1	A	G	14: 50,377,277 (GRCm39)	V273A	possibly damaging	Het
Or56a3b	T	C	7: 104,771,071 (GRCm39)	Y136H	probably damaging	Het
Pard3	G	A	8: 128,329,646 (GRCm39)	R1214H	probably damaging	Het
Phf20	T	A	2: 156,144,928 (GRCm39)	Y845*	probably null	Het
Pik3c2a	A	G	7: 115,993,474 (GRCm39)	I431T	probably damaging	Het
Plxna2	A	G	1: 194,494,464 (GRCm39)	S1894G	probably damaging	Het
Ppp1r7	C	T	1: 93,282,123 (GRCm39)	Q225*	probably null	Het
Ppp4r1	C	A	17: 66,120,493 (GRCm39)	T209K	probably damaging	Het
Prc1	T	C	7: 79,950,183 (GRCm39)		probably null	Het
Prex2	T	G	1: 11,274,316 (GRCm39)	D1329E	probably damaging	Het
Rab24	A	T	13: 55,468,921 (GRCm39)	C87S	probably damaging	Het
Rnf43	A	T	11: 87,622,954 (GRCm39)	Y558F	probably benign	Het
Serpinb6e	T	C	13: 34,016,474 (GRCm39)	I420V	possibly damaging	Het
Slain2	C	A	5: 73,072,143 (GRCm39)	S59*	probably null	Het
Slfn3	A	G	11: 83,105,731 (GRCm39)	D576G	probably benign	Het
Sptbn4	A	G	7: 27,141,960 (GRCm39)	M11T	probably benign	Het
Tdh	T	C	14: 63,731,460 (GRCm39)	D238G	probably damaging	Het
Top2b	T	A	14: 16,395,427 (GRCm38)	Y337*	probably null	Het
Trav15-2-dv6-2	A	C	14: 53,887,308 (GRCm39)	Y76S	probably benign	Het
Vmn1r172	G	T	7: 23,359,189 (GRCm39)	G25C	probably damaging	Het
Vmn2r60	AG	A	7: 41,845,158 (GRCm39)		probably null	Het
Vps13d	T	C	4: 144,818,492 (GRCm39)	E3125G		Het
Xkr6	G	T	14: 64,056,610 (GRCm39)	V430F	probably benign	Het
Zfp142	T	C	1: 74,610,061 (GRCm39)	T1245A	probably benign	Het
Zfp960	C	T	17: 17,307,825 (GRCm39)	H180Y	possibly damaging	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
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
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'- ACACACCTCAGTTGGAGCTG -3'
(R):5'- CGCAGAGACGCTTTTGAAATTTC -3'

Sequencing Primer
(F):5'- GAGCTGCTCCCCCACGG -3'
(R):5'- CTACTGAAGGGCATTCTGGC -3'

Posted On

2019-10-17