Mutagenetix > Incidental Mutation

Incidental Mutation 'R3950:Ptch1'

307893

Institutional Source

Beutler Lab

Gene Symbol

Ptch1

Ensembl Gene

ENSMUSG00000021466

Gene Name

patched 1

Synonyms

A230106A15Rik, Patched 1, Ptc1, Ptc

MMRRC Submission

040930-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63508328-63573598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 63524959 bp (GRCm38)

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,664,403 (GRCm38)		probably null	Het
Ahnak2	A	T	12: 112,785,789 (GRCm38)	I186N	probably damaging	Het
Appbp2	A	G	11: 85,194,706 (GRCm38)	I458T	probably damaging	Het
Arhgef25	T	C	10: 127,185,144 (GRCm38)	Y291C	probably damaging	Het
Ate1	T	C	7: 130,467,292 (GRCm38)	Y415C	probably damaging	Het
B4galt4	G	T	16: 38,768,022 (GRCm38)	A72S	probably benign	Het
C3	T	C	17: 57,225,286 (GRCm38)	R178G	probably benign	Het
Cdh23	T	C	10: 60,657,326 (GRCm38)	Y3C	probably benign	Het
Col11a1	T	C	3: 114,121,445 (GRCm38)		probably null	Het
Col22a1	A	G	15: 71,977,358 (GRCm38)	F294L	possibly damaging	Het
Dera	A	G	6: 137,837,120 (GRCm38)	Y100C	probably damaging	Het
Dync2h1	A	T	9: 7,112,061 (GRCm38)	Y276*	probably null	Het
Eea1	A	T	10: 96,042,134 (GRCm38)	N1389I	probably damaging	Het
Epha4	A	T	1: 77,399,716 (GRCm38)	Y509N	probably damaging	Het
Fat3	G	A	9: 15,998,271 (GRCm38)	S2145F	probably damaging	Het
Fezf1	T	A	6: 23,247,420 (GRCm38)	K219*	probably null	Het
Fsd1	G	A	17: 55,995,517 (GRCm38)		probably null	Het
Haspin	A	G	11: 73,136,395 (GRCm38)	Y623H	probably damaging	Het
Hsd3b1	C	T	3: 98,856,138 (GRCm38)	V56M	possibly damaging	Het
Hyou1	C	T	9: 44,385,227 (GRCm38)	T483I	probably damaging	Het
Kdm2a	A	G	19: 4,343,232 (GRCm38)	L365S	possibly damaging	Het
Kdm6b	G	T	11: 69,405,615 (GRCm38)	P609T	probably damaging	Het
Klhl18	T	A	9: 110,428,902 (GRCm38)	Y490F	probably damaging	Het
Ky	C	T	9: 102,542,428 (GRCm38)	Q545*	probably null	Het
L1td1	T	C	4: 98,737,353 (GRCm38)	L595P	probably benign	Het
Map3k20	T	G	2: 72,438,300 (GRCm38)	I550M	probably damaging	Het
Mug1	T	A	6: 121,878,530 (GRCm38)	V941E	probably damaging	Het
Ndst1	T	C	18: 60,697,139 (GRCm38)	N633S	probably benign	Het
Ninl	A	T	2: 150,952,488 (GRCm38)	I740K	possibly damaging	Het
Npepl1	A	G	2: 174,121,113 (GRCm38)	N431D	probably damaging	Het
Olfr1128	T	C	2: 87,545,065 (GRCm38)	T160A	probably damaging	Het
Pacs2	T	C	12: 113,061,113 (GRCm38)	S408P	probably damaging	Het
Pard6b	C	T	2: 168,099,194 (GRCm38)	T367I	probably damaging	Het
Pcdhga7	A	G	18: 37,716,515 (GRCm38)	E525G	probably damaging	Het
Pctp	A	G	11: 89,987,318 (GRCm38)	I130T	probably benign	Het
Pcx	C	T	19: 4,617,967 (GRCm38)	H506Y	probably benign	Het
Pdhx	A	G	2: 103,035,241 (GRCm38)	S199P	probably damaging	Het
Pdia2	C	A	17: 26,197,616 (GRCm38)		probably null	Het
Pif1	C	A	9: 65,591,834 (GRCm38)	N445K	probably damaging	Het
Prickle4	T	C	17: 47,688,582 (GRCm38)	K349E	probably benign	Het
Ptpdc1	A	T	13: 48,589,194 (GRCm38)	M173K	probably damaging	Het
Rb1	A	G	14: 73,262,662 (GRCm38)	L515P	probably damaging	Het
Rcvrn	A	G	11: 67,700,051 (GRCm38)	K154E	probably damaging	Het
Ros1	C	T	10: 52,066,388 (GRCm38)	V2059I	probably damaging	Het
Rtn4ip1	T	A	10: 43,909,897 (GRCm38)		probably null	Het
Sema5a	T	C	15: 32,689,338 (GRCm38)	Y1050H	probably damaging	Het
Slc25a28	C	T	19: 43,664,269 (GRCm38)	V318I	probably benign	Het
Srek1	G	A	13: 103,744,895 (GRCm38)	R408W	unknown	Het
Synrg	C	T	11: 83,989,815 (GRCm38)	T444I	probably damaging	Het
Ticrr	T	C	7: 79,682,069 (GRCm38)	L776S	probably damaging	Het
Tmem127	T	C	2: 127,248,657 (GRCm38)	L31P	probably damaging	Het
Tmprss15	T	A	16: 79,073,186 (GRCm38)	T190S	probably benign	Het
Trip10	T	A	17: 57,253,411 (GRCm38)		probably null	Het
Ttc6	A	G	12: 57,649,506 (GRCm38)	Y31C	probably damaging	Het
Unc80	A	T	1: 66,622,570 (GRCm38)	H1718L	possibly damaging	Het
Zbtb38	A	G	9: 96,687,546 (GRCm38)	F495S	probably damaging	Het
Zfp280d	G	T	9: 72,296,019 (GRCm38)	Q16H	possibly damaging	Het
Zfp521	A	G	18: 13,846,346 (GRCm38)	S337P	probably damaging	Het
Zswim9	T	A	7: 13,261,577 (GRCm38)	T218S	possibly damaging	Het

Other mutations in Ptch1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Ptch1	APN	13	63,527,175 (GRCm38)	missense	probably benign	0.00
IGL01084:Ptch1	APN	13	63,543,637 (GRCm38)	missense	probably damaging	0.99
IGL01369:Ptch1	APN	13	63,511,681 (GRCm38)	missense	probably benign
IGL02260:Ptch1	APN	13	63,565,352 (GRCm38)	unclassified	probably benign
IGL02439:Ptch1	APN	13	63,545,096 (GRCm38)	missense	probably damaging	1.00
IGL02588:Ptch1	APN	13	63,511,918 (GRCm38)	missense	probably benign	0.13
IGL02797:Ptch1	APN	13	63,533,607 (GRCm38)	missense	probably benign
R0463:Ptch1	UTSW	13	63,520,307 (GRCm38)	missense	probably damaging	0.98
R0539:Ptch1	UTSW	13	63,543,480 (GRCm38)	splice site	probably benign
R0657:Ptch1	UTSW	13	63,513,751 (GRCm38)	missense	possibly damaging	0.90
R0971:Ptch1	UTSW	13	63,539,843 (GRCm38)	missense	probably benign	0.23
R1466:Ptch1	UTSW	13	63,524,969 (GRCm38)	missense	probably benign	0.02
R1466:Ptch1	UTSW	13	63,524,969 (GRCm38)	missense	probably benign	0.02
R1539:Ptch1	UTSW	13	63,541,287 (GRCm38)	missense	probably benign	0.00
R1616:Ptch1	UTSW	13	63,539,842 (GRCm38)	missense	possibly damaging	0.96
R1883:Ptch1	UTSW	13	63,512,027 (GRCm38)	nonsense	probably null
R1985:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R1986:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2024:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2025:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2026:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2027:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2096:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2097:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2100:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2105:Ptch1	UTSW	13	63,545,245 (GRCm38)	missense	probably benign
R2165:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2166:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2167:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2168:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2226:Ptch1	UTSW	13	63,513,671 (GRCm38)	missense	probably damaging	1.00
R2437:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2504:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2507:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2696:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2698:Ptch1	UTSW	13	63,542,224 (GRCm38)	missense	probably damaging	1.00
R2698:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R2971:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R3410:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R3708:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R3744:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R3745:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R3783:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R3784:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R3785:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R3807:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R4013:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R4015:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R4016:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R4017:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R4035:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R4083:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R4084:Ptch1	UTSW	13	63,524,959 (GRCm38)	missense	probably benign	0.00
R4179:Ptch1	UTSW	13	63,534,329 (GRCm38)	missense	probably damaging	1.00
R4222:Ptch1	UTSW	13	63,534,329 (GRCm38)	missense	probably damaging	1.00
R4348:Ptch1	UTSW	13	63,534,329 (GRCm38)	missense	probably damaging	1.00
R4349:Ptch1	UTSW	13	63,534,329 (GRCm38)	missense	probably damaging	1.00
R4350:Ptch1	UTSW	13	63,534,329 (GRCm38)	missense	probably damaging	1.00
R4351:Ptch1	UTSW	13	63,534,329 (GRCm38)	missense	probably damaging	1.00
R4353:Ptch1	UTSW	13	63,534,329 (GRCm38)	missense	probably damaging	1.00
R4485:Ptch1	UTSW	13	63,534,329 (GRCm38)	missense	probably damaging	1.00
R4595:Ptch1	UTSW	13	63,543,608 (GRCm38)	missense	possibly damaging	0.68
R4625:Ptch1	UTSW	13	63,523,164 (GRCm38)	missense	probably benign	0.02
R4809:Ptch1	UTSW	13	63,513,708 (GRCm38)	missense	probably damaging	0.98
R4904:Ptch1	UTSW	13	63,523,004 (GRCm38)	missense	probably damaging	1.00
R4911:Ptch1	UTSW	13	63,523,052 (GRCm38)	missense	probably damaging	1.00
R4942:Ptch1	UTSW	13	63,525,070 (GRCm38)	missense	probably benign	0.02
R5386:Ptch1	UTSW	13	63,545,043 (GRCm38)	missense	probably damaging	0.98
R5447:Ptch1	UTSW	13	63,527,245 (GRCm38)	missense	probably benign
R5604:Ptch1	UTSW	13	63,525,122 (GRCm38)	missense	probably benign	0.01
R5846:Ptch1	UTSW	13	63,565,454 (GRCm38)	unclassified	probably benign
R5926:Ptch1	UTSW	13	63,545,055 (GRCm38)	missense	probably benign	0.01
R5945:Ptch1	UTSW	13	63,573,419 (GRCm38)	utr 5 prime	probably benign
R5957:Ptch1	UTSW	13	63,525,115 (GRCm38)	missense	probably damaging	1.00
R6326:Ptch1	UTSW	13	63,543,545 (GRCm38)	missense	probably damaging	1.00
R6358:Ptch1	UTSW	13	63,513,689 (GRCm38)	missense	probably damaging	0.96
R6376:Ptch1	UTSW	13	63,543,608 (GRCm38)	missense	possibly damaging	0.68
R6599:Ptch1	UTSW	13	63,523,104 (GRCm38)	missense	probably damaging	0.98
R6615:Ptch1	UTSW	13	63,539,830 (GRCm38)	missense	possibly damaging	0.46
R6965:Ptch1	UTSW	13	63,525,067 (GRCm38)	missense	possibly damaging	0.63
R7149:Ptch1	UTSW	13	63,511,736 (GRCm38)	missense	probably benign	0.23
R7168:Ptch1	UTSW	13	63,512,060 (GRCm38)	missense	probably benign
R7257:Ptch1	UTSW	13	63,573,294 (GRCm38)	missense	not run
R7258:Ptch1	UTSW	13	63,573,294 (GRCm38)	missense	not run
R7259:Ptch1	UTSW	13	63,573,294 (GRCm38)	missense	not run
R7368:Ptch1	UTSW	13	63,511,984 (GRCm38)	missense	probably benign	0.06
R7525:Ptch1	UTSW	13	63,511,714 (GRCm38)	missense	probably benign	0.00
R7528:Ptch1	UTSW	13	63,511,714 (GRCm38)	missense	probably benign	0.00
R7820:Ptch1	UTSW	13	63,523,061 (GRCm38)	missense	probably damaging	1.00
R8077:Ptch1	UTSW	13	63,540,812 (GRCm38)	missense	probably damaging	0.98
R8373:Ptch1	UTSW	13	63,541,168 (GRCm38)	missense	probably damaging	1.00
R8398:Ptch1	UTSW	13	63,525,125 (GRCm38)	missense	probably benign	0.06
R8407:Ptch1	UTSW	13	63,514,243 (GRCm38)	missense	probably null	1.00
R8839:Ptch1	UTSW	13	63,541,224 (GRCm38)	missense	probably damaging	1.00
R9075:Ptch1	UTSW	13	63,533,521 (GRCm38)	missense	possibly damaging	0.87
R9476:Ptch1	UTSW	13	63,533,634 (GRCm38)	missense	probably benign	0.05
R9514:Ptch1	UTSW	13	63,527,257 (GRCm38)	missense	probably benign
R9528:Ptch1	UTSW	13	63,513,801 (GRCm38)	missense	probably benign	0.00
R9568:Ptch1	UTSW	13	63,542,173 (GRCm38)	missense	probably damaging	0.99
Z1177:Ptch1	UTSW	13	63,520,279 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAACGCTCACTTCTCAACGTG -3'
(R):5'- TAGTTGACTAAACAGCGTCTGG -3'

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

Posted On

2015-04-17