Mutagenetix > Incidental Mutation

Incidental Mutation 'R0715:Ptchd3'

62833

Institutional Source

Beutler Lab

Gene Symbol

Ptchd3

Ensembl Gene

ENSMUSG00000039198

Gene Name

patched domain containing 3

Synonyms

4930451E13Rik, 4933440L20Rik

MMRRC Submission

038898-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0715 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

121721073-121734249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121721984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 286 (T286A)

Ref Sequence

ENSEMBL: ENSMUSP00000035709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036690]

AlphaFold

Q0EEE2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036690
AA Change: T286A

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035709
Gene: ENSMUSG00000039198
AA Change: T286A

Domain	Start	End	E-Value	Type
Pfam:Patched	121	906	1.2e-177	PFAM
Pfam:Sterol-sensing	363	508	3.4e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126556

Meta Mutation Damage Score

0.1713

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	A	G	11: 58,179,176 (GRCm39)	Y170C	probably damaging	Het
Adcy2	C	T	13: 69,036,161 (GRCm39)	V167I	probably benign	Het
Agl	A	G	3: 116,545,825 (GRCm39)	Y1324H	probably damaging	Het
Arhgef37	G	T	18: 61,641,860 (GRCm39)	Q170K	probably damaging	Het
Asah2	A	G	19: 31,994,176 (GRCm39)	S390P	probably damaging	Het
Atp8a1	A	T	5: 67,932,068 (GRCm39)	H240Q	probably benign	Het
Btbd16	T	A	7: 130,390,557 (GRCm39)	N151K	probably damaging	Het
Ccdc73	T	A	2: 104,803,499 (GRCm39)		probably benign	Het
Cecr2	G	T	6: 120,735,159 (GRCm39)	M21I	probably benign	Het
Ckap2l	T	C	2: 129,127,636 (GRCm39)	T181A	probably benign	Het
Col4a3	T	C	1: 82,629,879 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,252,576 (GRCm39)	C1933S	probably benign	Het
Dnah9	A	G	11: 65,972,074 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,611,706 (GRCm39)	L516P	possibly damaging	Het
Fat3	T	C	9: 16,286,419 (GRCm39)	T1035A	probably benign	Het
Fzd8	A	G	18: 9,212,947 (GRCm39)	T10A	unknown	Het
Gm9631	C	A	11: 121,833,328 (GRCm39)	C636F	probably damaging	Het
Gp1ba	A	G	11: 70,531,614 (GRCm39)		probably benign	Het
Gsk3a	A	G	7: 24,931,134 (GRCm39)	V277A	probably damaging	Het
H2-M1	T	A	17: 36,981,120 (GRCm39)		probably benign	Het
Hesx1	T	A	14: 26,722,809 (GRCm39)	W45R	probably damaging	Het
Il23r	T	A	6: 67,463,317 (GRCm39)	M59L	possibly damaging	Het
Insc	T	A	7: 114,444,312 (GRCm39)	V433E	probably benign	Het
Itga8	T	C	2: 12,196,053 (GRCm39)		probably benign	Het
Kif13a	T	A	13: 46,966,299 (GRCm39)	E436V	probably damaging	Het
Liph	A	G	16: 21,814,100 (GRCm39)	F7S	probably benign	Het
Lpar2	T	C	8: 70,276,823 (GRCm39)	V204A	probably damaging	Het
Lrfn4	T	A	19: 4,662,668 (GRCm39)		probably null	Het
Man2b2	A	T	5: 36,983,402 (GRCm39)	D182E	probably benign	Het
Mmp27	T	C	9: 7,581,156 (GRCm39)		probably benign	Het
Mrm1	A	G	11: 84,705,639 (GRCm39)		probably benign	Het
Mtx3	T	C	13: 92,986,869 (GRCm39)	S271P	probably damaging	Het
Myh11	A	T	16: 14,044,480 (GRCm39)	M641K	possibly damaging	Het
Necab2	A	G	8: 120,197,670 (GRCm39)	D332G	probably damaging	Het
Ngfr	A	G	11: 95,465,065 (GRCm39)	I261T	possibly damaging	Het
Nrap	T	C	19: 56,345,757 (GRCm39)	E617G	probably damaging	Het
Obscn	G	T	11: 58,941,306 (GRCm39)	T4505K	probably benign	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Or8b57	A	G	9: 40,003,807 (GRCm39)	Y148H	probably damaging	Het
Osbpl11	T	A	16: 33,062,100 (GRCm39)		probably benign	Het
Otof	A	G	5: 30,552,041 (GRCm39)	V301A	probably damaging	Het
Phf3	A	T	1: 30,850,919 (GRCm39)	L1145Q	probably damaging	Het
Phospho2	T	A	2: 69,626,540 (GRCm39)	I232N	possibly damaging	Het
Pomgnt2	T	A	9: 121,811,127 (GRCm39)	K551N	probably damaging	Het
Rnf213	A	G	11: 119,331,976 (GRCm39)	D2396G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,373,341 (GRCm39)	E836G	possibly damaging	Het
Simc1	G	T	13: 54,673,468 (GRCm39)	M605I	possibly damaging	Het
Slc12a3	G	A	8: 95,056,061 (GRCm39)	E66K	possibly damaging	Het
Spg11	T	C	2: 121,915,464 (GRCm39)	N1060S	probably benign	Het
Supt5	A	T	7: 28,028,462 (GRCm39)	W178R	probably damaging	Het
Tmem41a	G	T	16: 21,756,740 (GRCm39)	F126L	probably benign	Het
Ube2m	T	A	7: 12,771,553 (GRCm39)	Q35L	probably benign	Het
Usp33	A	G	3: 152,086,211 (GRCm39)	D658G	probably damaging	Het
Vmn2r12	A	T	5: 109,238,373 (GRCm39)	C456S	probably benign	Het
Vmn2r81	T	A	10: 79,104,434 (GRCm39)	D352E	probably damaging	Het
Zfp516	A	G	18: 83,005,388 (GRCm39)	Y764C	probably damaging	Het
Zswim7	A	G	11: 62,167,473 (GRCm39)		probably benign	Het

Other mutations in Ptchd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Ptchd3	APN	11	121,721,972 (GRCm39)	missense	probably damaging	1.00
IGL01459:Ptchd3	APN	11	121,721,246 (GRCm39)	missense	probably benign	0.00
IGL02815:Ptchd3	APN	11	121,732,430 (GRCm39)	missense	probably benign	0.03
PIT4418001:Ptchd3	UTSW	11	121,732,566 (GRCm39)	nonsense	probably null
PIT4791001:Ptchd3	UTSW	11	121,722,875 (GRCm39)	missense	probably damaging	0.98
R0018:Ptchd3	UTSW	11	121,733,170 (GRCm39)	missense	probably benign
R0068:Ptchd3	UTSW	11	121,733,798 (GRCm39)	missense	probably damaging	1.00
R0068:Ptchd3	UTSW	11	121,733,798 (GRCm39)	missense	probably damaging	1.00
R0316:Ptchd3	UTSW	11	121,732,916 (GRCm39)	missense	possibly damaging	0.91
R0331:Ptchd3	UTSW	11	121,733,017 (GRCm39)	missense	probably benign	0.00
R1200:Ptchd3	UTSW	11	121,722,087 (GRCm39)	critical splice donor site	probably null
R1595:Ptchd3	UTSW	11	121,721,420 (GRCm39)	missense	probably damaging	1.00
R1763:Ptchd3	UTSW	11	121,733,368 (GRCm39)	missense	probably benign	0.00
R1792:Ptchd3	UTSW	11	121,732,377 (GRCm39)	nonsense	probably null
R2098:Ptchd3	UTSW	11	121,733,305 (GRCm39)	missense	probably damaging	1.00
R4120:Ptchd3	UTSW	11	121,721,572 (GRCm39)	missense	probably damaging	1.00
R4533:Ptchd3	UTSW	11	121,727,257 (GRCm39)	missense	probably damaging	1.00
R4702:Ptchd3	UTSW	11	121,727,235 (GRCm39)	missense	probably damaging	1.00
R4761:Ptchd3	UTSW	11	121,727,224 (GRCm39)	missense	possibly damaging	0.95
R4868:Ptchd3	UTSW	11	121,721,883 (GRCm39)	missense	possibly damaging	0.85
R4948:Ptchd3	UTSW	11	121,733,342 (GRCm39)	missense	probably damaging	1.00
R5092:Ptchd3	UTSW	11	121,721,972 (GRCm39)	missense	probably damaging	1.00
R5954:Ptchd3	UTSW	11	121,727,413 (GRCm39)	intron	probably benign
R6199:Ptchd3	UTSW	11	121,721,908 (GRCm39)	missense	probably benign	0.17
R6431:Ptchd3	UTSW	11	121,727,229 (GRCm39)	missense	probably benign	0.06
R6484:Ptchd3	UTSW	11	121,733,764 (GRCm39)	missense	possibly damaging	0.91
R7936:Ptchd3	UTSW	11	121,721,939 (GRCm39)	nonsense	probably null
R8120:Ptchd3	UTSW	11	121,733,034 (GRCm39)	missense	probably benign	0.00
R8311:Ptchd3	UTSW	11	121,727,299 (GRCm39)	missense	possibly damaging	0.88
R9004:Ptchd3	UTSW	11	121,732,687 (GRCm39)	missense	possibly damaging	0.88
R9026:Ptchd3	UTSW	11	121,721,682 (GRCm39)	missense	possibly damaging	0.95
R9091:Ptchd3	UTSW	11	121,733,180 (GRCm39)	missense	probably benign	0.00
R9199:Ptchd3	UTSW	11	121,721,741 (GRCm39)	missense	probably benign	0.43
R9261:Ptchd3	UTSW	11	121,722,956 (GRCm39)	missense	probably damaging	0.96
R9270:Ptchd3	UTSW	11	121,733,180 (GRCm39)	missense	probably benign	0.00
R9412:Ptchd3	UTSW	11	121,732,779 (GRCm39)	missense	possibly damaging	0.54
R9419:Ptchd3	UTSW	11	121,732,356 (GRCm39)	missense	possibly damaging	0.94
R9435:Ptchd3	UTSW	11	121,721,646 (GRCm39)	missense	probably benign	0.00
R9491:Ptchd3	UTSW	11	121,733,813 (GRCm39)	missense	probably damaging	1.00
Z1176:Ptchd3	UTSW	11	121,727,302 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- ACCAATGACACTTACCGCTTCTCTG -3'
(R):5'- GCAAAGGTCACTTTGTCTCTGCCC -3'

Sequencing Primer
(F):5'- TCACTGCTGGAGCCAGAAATATTC -3'
(R):5'- ACTTTGTCTCTGCCCTTAGTGG -3'

Posted On

2013-07-30