Mutagenetix > Incidental Mutation

Incidental Mutation 'R9004:Ptchd3'

685164

Institutional Source

Beutler Lab

Gene Symbol

Ptchd3

Ensembl Gene

ENSMUSG00000039198

Gene Name

patched domain containing 3

Synonyms

4930451E13Rik, 4933440L20Rik

MMRRC Submission

068834-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121721073-121734249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121732687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 526 (F526I)

Ref Sequence

ENSEMBL: ENSMUSP00000035709 (fasta)

Gene Model

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

AlphaFold

Q0EEE2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036690
AA Change: F526I

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035709
Gene: ENSMUSG00000039198
AA Change: F526I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.3%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,454,197 (GRCm39)		probably benign	Het
2310057N15Rik	C	A	16: 88,570,986 (GRCm39)	C18F	probably damaging	Het
Abca7	T	A	10: 79,841,483 (GRCm39)	M941K	probably damaging	Het
Abcd2	A	G	15: 91,075,051 (GRCm39)	I254T	probably benign	Het
Abcg8	C	A	17: 85,004,790 (GRCm39)	T519K	probably benign	Het
Adcy9	A	G	16: 4,106,378 (GRCm39)	V1149A	probably damaging	Het
Alg10b	A	G	15: 90,109,894 (GRCm39)	Y69C	probably damaging	Het
Arhgef10l	T	C	4: 140,279,921 (GRCm39)	D529G	probably damaging	Het
Ascc3	T	A	10: 50,718,276 (GRCm39)	C1990S	probably benign	Het
BC034090	T	A	1: 155,102,138 (GRCm39)	N42I	possibly damaging	Het
Bptf	G	A	11: 106,945,713 (GRCm39)	P2509S	probably damaging	Het
Carmil1	T	A	13: 24,225,662 (GRCm39)	D1042V	probably damaging	Het
Ccny	A	G	18: 9,332,883 (GRCm39)	V216A	possibly damaging	Het
Cdr2	T	C	7: 120,557,722 (GRCm39)	N268D	probably benign	Het
Cep152	T	C	2: 125,453,020 (GRCm39)	S351G	probably benign	Het
Chrm1	T	C	19: 8,655,909 (GRCm39)	C205R	possibly damaging	Het
Dalrd3	C	A	9: 108,449,430 (GRCm39)	D454E	probably benign	Het
Dmbt1	T	C	7: 130,713,798 (GRCm39)	L1622P	unknown	Het
Eif2s2	A	G	2: 154,720,404 (GRCm39)	Y172H	probably benign	Het
Ell	T	A	8: 71,031,604 (GRCm39)	S101T	probably damaging	Het
Faf1	A	G	4: 109,698,550 (GRCm39)	T337A	probably benign	Het
Fhad1	A	T	4: 141,649,735 (GRCm39)		probably benign	Het
Gen1	T	C	12: 11,305,022 (GRCm39)		probably benign	Het
Gfap	A	G	11: 102,782,268 (GRCm39)	I414T	probably benign	Het
Ginm1	A	C	10: 7,651,019 (GRCm39)	V129G	probably damaging	Het
Helq	C	T	5: 100,926,598 (GRCm39)		probably benign	Het
Hoxb3	A	G	11: 96,237,137 (GRCm39)	D405G	possibly damaging	Het
Hsp90aa1	A	G	12: 110,659,045 (GRCm39)	V584A	probably damaging	Het
Iglc2	T	C	16: 19,017,425 (GRCm39)	K59R	probably benign	Het
Inhba	T	C	13: 16,201,526 (GRCm39)	S363P	probably benign	Het
Kif1c	A	G	11: 70,615,958 (GRCm39)	K656E	probably benign	Het
Mroh4	G	T	15: 74,486,171 (GRCm39)	L492I	possibly damaging	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Naaladl1	C	A	19: 6,155,965 (GRCm39)	D46E	probably damaging	Het
Nbea	C	T	3: 55,910,359 (GRCm39)	V1279I	probably benign	Het
Nceh1	T	A	3: 27,293,726 (GRCm39)	D161E	possibly damaging	Het
Nck2	A	T	1: 43,593,510 (GRCm39)	N239I		Het
Nlrx1	C	T	9: 44,167,644 (GRCm39)	R751H	probably benign	Het
Or10ag54	T	A	2: 87,099,695 (GRCm39)	F190Y	possibly damaging	Het
Or8b46	A	G	9: 38,450,530 (GRCm39)	Y113C	probably benign	Het
Or8g17	C	A	9: 38,930,580 (GRCm39)	V86L	probably benign	Het
Oscar	A	T	7: 3,619,040 (GRCm39)	C13S	possibly damaging	Het
Pappa2	T	A	1: 158,763,979 (GRCm39)	I511F	probably damaging	Het
Pappa2	T	C	1: 158,764,518 (GRCm39)	D331G	possibly damaging	Het
Pde4c	C	T	8: 71,199,515 (GRCm39)	S265L	possibly damaging	Het
Pex1	A	G	5: 3,662,914 (GRCm39)	S502G	probably benign	Het
Pigl	A	G	11: 62,403,779 (GRCm39)	Y237C	probably damaging	Het
Pkd1	A	T	17: 24,799,421 (GRCm39)	Q2880L	probably benign	Het
Pkhd1l1	A	T	15: 44,406,768 (GRCm39)	H2335L	probably benign	Het
Ppp1r17	A	G	6: 56,008,513 (GRCm39)	E151G	probably damaging	Het
Ppp1r27	A	G	11: 120,441,849 (GRCm39)	Y11H	probably damaging	Het
Prss54	C	A	8: 96,292,137 (GRCm39)	K147N	possibly damaging	Het
Ptprt	T	C	2: 161,608,314 (GRCm39)	N661D	probably benign	Het
Rfpl4b	T	C	10: 38,697,771 (GRCm39)		probably benign	Het
Sdad1	T	C	5: 92,439,820 (GRCm39)	T402A	probably benign	Het
Stk32c	T	C	7: 138,702,859 (GRCm39)	D178G	probably damaging	Het
Tas2r119	T	C	15: 32,178,109 (GRCm39)	L225P	probably damaging	Het
Tdpoz4	A	T	3: 93,704,018 (GRCm39)	E105V	probably benign	Het
Tlk1	A	G	2: 70,552,290 (GRCm39)	I520T	probably damaging	Het
Tmf1	A	G	6: 97,152,738 (GRCm39)	V445A	probably benign	Het
Tomm6	T	C	17: 47,998,833 (GRCm39)	D40G	possibly damaging	Het
Traf6	C	A	2: 101,520,443 (GRCm39)	Q164K	probably benign	Het
Tspoap1	A	G	11: 87,670,284 (GRCm39)	H150R		Het
Ube2g2	A	T	10: 77,479,434 (GRCm39)	M126L	probably benign	Het
Unc45b	A	G	11: 82,819,515 (GRCm39)	D496G	probably damaging	Het
Vmn1r74	A	C	7: 11,580,840 (GRCm39)	I47L	probably benign	Het
Vmn2r88	A	T	14: 51,650,624 (GRCm39)	L112F		Het
Wwc2	A	C	8: 48,373,732 (GRCm39)	L45V	probably damaging	Het
Zfp459	A	C	13: 67,556,714 (GRCm39)	I123R	probably damaging	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
R0715:Ptchd3	UTSW	11	121,721,984 (GRCm39)	missense	possibly damaging	0.90
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
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'- ATACAGGAATCACCAGCTCTTTCAG -3'
(R):5'- TCACTTGCCAGGTTCCGAAG -3'

Sequencing Primer
(F):5'- AGGAATCACCAGCTCTTTCAGATCTG -3'
(R):5'- TTGCCAGGTTCCGAAGATCTAAC -3'

Posted On

2021-10-11