Mutagenetix > Incidental Mutation

Incidental Mutation 'R3785:Ptch1'

272230

Institutional Source

Beutler Lab

Gene Symbol

Ptch1

Ensembl Gene

ENSMUSG00000021466

Gene Name

patched 1

Synonyms

wig, Ptc, Ptc1, A230106A15Rik, Patched 1

MMRRC Submission

040752-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3785 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63656142-63721274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 63672773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 944 (E944A)

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: E944A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000021921
Gene: ENSMUSG00000021466
AA Change: E944A

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: E807A

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

SMART Domains

Protein: ENSMUSP00000141489
Gene: ENSMUSG00000021466
AA Change: E807A

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

Meta Mutation Damage Score

0.1368

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

95% (38/40)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
A2ml1	C	T	6: 128,521,887 (GRCm39)		probably null	Het
Aak1	T	C	6: 86,942,560 (GRCm39)	F701S	unknown	Het
Arid2	T	A	15: 96,270,439 (GRCm39)	D1517E	possibly damaging	Het
Cyp2r1	C	T	7: 114,153,931 (GRCm39)	V88I	possibly damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dnah11	G	T	12: 117,981,337 (GRCm39)	Q2610K	probably damaging	Het
Gm5698	T	C	1: 31,016,560 (GRCm39)	T164A	probably benign	Het
Gpt2	G	T	8: 86,252,202 (GRCm39)	V506L	probably benign	Het
Gpx6	A	G	13: 21,497,956 (GRCm39)	T76A	probably benign	Het
Htra3	A	T	5: 35,828,472 (GRCm39)	L136H	probably benign	Het
Ifitm10	G	A	7: 141,882,335 (GRCm39)	T145I	possibly damaging	Het
Inpp5k	T	C	11: 75,538,512 (GRCm39)	L461P	probably damaging	Het
Kcnd3	C	A	3: 105,575,541 (GRCm39)	T555K	possibly damaging	Het
Kif13b	C	T	14: 65,037,849 (GRCm39)	T1505I	probably benign	Het
Mcf2l	G	T	8: 12,930,099 (GRCm39)	G40C	probably damaging	Het
Mettl3	A	T	14: 52,537,363 (GRCm39)	I102N	probably benign	Het
Muc5b	C	T	7: 141,418,853 (GRCm39)	T3933I	possibly damaging	Het
Mus81	G	A	19: 5,535,389 (GRCm39)		probably benign	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Mypn	C	A	10: 63,028,961 (GRCm39)	R34L	probably benign	Het
Neurod1	T	A	2: 79,284,939 (GRCm39)	N148I	probably damaging	Het
Or4f56	T	C	2: 111,703,831 (GRCm39)	Y123C	probably damaging	Het
Or8g32	T	C	9: 39,305,678 (GRCm39)	V197A	probably benign	Het
Or9g3	G	A	2: 85,589,797 (GRCm39)	P308S	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Rnf5	A	G	17: 34,820,906 (GRCm39)		probably null	Het
Sacs	C	A	14: 61,421,410 (GRCm39)	Q116K	probably damaging	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Senp6	T	G	9: 79,999,568 (GRCm39)	I74S	probably benign	Het
Slc13a4	T	A	6: 35,264,827 (GRCm39)	T131S	probably damaging	Het
Slc9a4	C	A	1: 40,623,130 (GRCm39)	P123Q	probably damaging	Het
Stxbp4	T	A	11: 90,426,441 (GRCm39)		probably null	Het
Swt1	T	C	1: 151,255,155 (GRCm39)	D814G	probably benign	Het
Synrg	T	C	11: 83,892,746 (GRCm39)	F613S	probably damaging	Het
Tekt1	A	G	11: 72,235,720 (GRCm39)	I376T	probably damaging	Het
Ttbk2	A	T	2: 120,604,296 (GRCm39)		probably benign	Het
Txnl4b	C	T	8: 110,299,409 (GRCm39)	A123V	probably damaging	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	Het
Zfp26	A	T	9: 20,349,098 (GRCm39)	C489S	probably damaging	Het
Zfp804b	G	A	5: 6,820,153 (GRCm39)	T934M	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
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

Predicted Primers

PCR Primer
(F):5'- AACGCTCACTTCTCAACGTG -3'
(R):5'- TGTAGTTGACTAAACAGCGTCTG -3'

Sequencing Primer
(F):5'- GCAGGGCTGTGTTCCATTACAC -3'
(R):5'- TTGACTAAACAGCGTCTGGTAGAC -3'

Posted On

2015-03-25