Mutagenetix > Incidental Mutation

Incidental Mutation 'R4013:Ptch1'

311832

Institutional Source

Beutler Lab

Gene Symbol

Ptch1

Ensembl Gene

ENSMUSG00000021466

Gene Name

patched 1

Synonyms

wig, Ptc, Ptc1, A230106A15Rik, Patched 1

MMRRC Submission

040950-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4013 (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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 92.4%

Validation Efficiency

98% (47/48)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,668,104 (GRCm39)	Q168R	probably benign	Het
Adgrg3	A	G	8: 95,761,727 (GRCm39)		probably benign	Het
Apold1	A	G	6: 134,960,869 (GRCm39)	I108V	probably benign	Het
Atp6v0a2	G	A	5: 124,789,860 (GRCm39)	V429M	probably damaging	Het
Cbln4	A	T	2: 171,879,477 (GRCm39)	M137K	probably damaging	Het
Cfap57	A	G	4: 118,450,340 (GRCm39)	V594A	probably benign	Het
Chd9	A	G	8: 91,699,797 (GRCm39)	E28G	possibly damaging	Het
Clip4	T	A	17: 72,163,541 (GRCm39)	C704*	probably null	Het
Col8a2	T	A	4: 126,204,908 (GRCm39)		probably benign	Het
Cyp3a59	A	G	5: 146,016,193 (GRCm39)	T17A	probably benign	Het
Cyp4f14	G	A	17: 33,135,853 (GRCm39)	Q3*	probably null	Het
Cysltr2	A	G	14: 73,267,005 (GRCm39)	I235T	probably damaging	Het
Esp34	C	A	17: 38,870,446 (GRCm39)	C45*	probably null	Het
Gabrg2	T	C	11: 41,862,707 (GRCm39)	K126E	possibly damaging	Het
Gm4846	A	C	1: 166,322,249 (GRCm39)		probably null	Het
Igsf21	T	C	4: 139,764,780 (GRCm39)	N165S	possibly damaging	Het
Kcnf1	A	G	12: 17,225,994 (GRCm39)	F76L	probably benign	Het
Kcns1	A	G	2: 164,010,177 (GRCm39)	V194A	probably damaging	Het
Kdm5a	T	A	6: 120,371,067 (GRCm39)	Y504N	probably damaging	Het
Kdm5b	A	G	1: 134,555,067 (GRCm39)	Y1325C	possibly damaging	Het
Kif1a	T	C	1: 93,004,014 (GRCm39)	D156G	probably damaging	Het
Lrp1b	A	G	2: 40,692,996 (GRCm39)	F3401L	possibly damaging	Het
Lrrc63	A	G	14: 75,335,731 (GRCm39)	Y460H	probably damaging	Het
Myo15b	G	T	11: 115,762,282 (GRCm39)	E1201*	probably null	Het
Ndor1	A	T	2: 25,140,162 (GRCm39)	I84K	probably damaging	Het
Ndst4	T	A	3: 125,476,819 (GRCm39)	Y15N	probably damaging	Het
Or51af1	T	C	7: 103,141,840 (GRCm39)	T82A	probably benign	Het
Or5ar1	A	G	2: 85,671,725 (GRCm39)	S137P	probably damaging	Het
Pik3r6	T	A	11: 68,424,347 (GRCm39)	D317E	possibly damaging	Het
Ppp2r1a	G	A	17: 21,171,609 (GRCm39)	R28H	probably damaging	Het
Ptpn12	G	A	5: 21,197,741 (GRCm39)	P700L	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc39a13	T	C	2: 90,895,247 (GRCm39)		probably null	Het
Smarca2	G	A	19: 26,661,327 (GRCm39)		probably null	Het
Taok1	A	T	11: 77,450,659 (GRCm39)	L371H	possibly damaging	Het
Tas2r116	A	G	6: 132,833,230 (GRCm39)	H277R	probably damaging	Het
Treml4	G	A	17: 48,571,837 (GRCm39)	R80Q	probably benign	Het
Trim9	G	A	12: 70,393,126 (GRCm39)	H273Y	probably damaging	Het
Tyr	A	G	7: 87,087,148 (GRCm39)	S455P	probably benign	Het
Vmn1r214	G	A	13: 23,219,520 (GRCm39)	C338Y	probably benign	Het
Vmn2r52	G	A	7: 9,904,603 (GRCm39)	T412I	probably benign	Het
Wdr70	A	T	15: 8,108,698 (GRCm39)	C149*	probably null	Het
Wdr93	T	A	7: 79,418,159 (GRCm39)	V294E	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
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'- GTAGTTGACTAAACAGCGTCTG -3'

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

Posted On

2015-04-29