Mutagenetix > Incidental Mutation

Incidental Mutation 'R7936:Ptchd3'

648759

Institutional Source

Beutler Lab

Gene Symbol

Ptchd3

Ensembl Gene

ENSMUSG00000039198

Gene Name

patched domain containing 3

Synonyms

4930451E13Rik, 4933440L20Rik

MMRRC Submission

045982-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7936 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121721073-121734249 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 121721939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 271 (R271*)

Ref Sequence

ENSEMBL: ENSMUSP00000035709 (fasta)

Gene Model

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

AlphaFold

Q0EEE2

Predicted Effect

probably null
Transcript: ENSMUST00000036690
AA Change: R271*

SMART Domains

Protein: ENSMUSP00000035709
Gene: ENSMUSG00000039198
AA Change: R271*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,900,445 (GRCm39)	L438*	probably null	Het
Adamts18	T	A	8: 114,493,760 (GRCm39)	I460F	probably damaging	Het
Api5	C	T	2: 94,268,392 (GRCm39)		probably benign	Het
Arap2	A	G	5: 62,888,048 (GRCm39)	S433P	probably damaging	Het
Arhgap26	T	C	18: 39,338,340 (GRCm39)	Y371H	probably damaging	Het
Asf1b	T	C	8: 84,695,848 (GRCm39)	I163T	probably benign	Het
Cacna2d2	A	G	9: 107,401,326 (GRCm39)	N696S	probably damaging	Het
Carns1	A	C	19: 4,216,152 (GRCm39)	S677A	probably benign	Het
Cd276	G	A	9: 58,448,113 (GRCm39)		probably benign	Het
Cdk8	T	A	5: 146,236,644 (GRCm39)	M353K	possibly damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Chsy3	A	G	18: 59,542,418 (GRCm39)	I519V	probably damaging	Het
Chtop	T	C	3: 90,414,658 (GRCm39)		probably benign	Het
Clstn3	T	A	6: 124,408,972 (GRCm39)	D892V	possibly damaging	Het
Col16a1	A	T	4: 129,990,664 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,345,983 (GRCm39)	E2441G	possibly damaging	Het
Dpy19l2	T	G	9: 24,469,454 (GRCm39)	D734A	probably damaging	Het
Dusp2	T	A	2: 127,178,812 (GRCm39)	Y172*	probably null	Het
Efcab3	A	G	11: 104,890,524 (GRCm39)	N4202S	possibly damaging	Het
Efcab3	G	A	11: 104,937,385 (GRCm39)		probably null	Het
Eml4	G	A	17: 83,781,115 (GRCm39)	R771Q	possibly damaging	Het
Fat2	T	A	11: 55,200,993 (GRCm39)	M694L	probably benign	Het
Fat2	C	A	11: 55,201,986 (GRCm39)	E363*	probably null	Het
Gdpgp1	A	G	7: 79,888,826 (GRCm39)	I286V	probably damaging	Het
Gps1	T	A	11: 120,677,199 (GRCm39)	V166E	probably damaging	Het
H60b	T	A	10: 22,162,055 (GRCm39)	N93K	probably benign	Het
Imp4	C	T	1: 34,482,114 (GRCm39)	T79I	probably benign	Het
Kank3	A	G	17: 34,037,841 (GRCm39)	S485G	probably benign	Het
Kcnv2	A	G	19: 27,300,167 (GRCm39)	N6S	probably benign	Het
Krba1	A	T	6: 48,388,603 (GRCm39)	Q534L	probably damaging	Het
Lgr4	A	G	2: 109,836,863 (GRCm39)	N399S	probably damaging	Het
Lgr5	A	G	10: 115,288,952 (GRCm39)	V564A	probably damaging	Het
Lrtm2	A	G	6: 119,297,394 (GRCm39)	F216L	probably benign	Het
Lsm8	T	A	6: 18,849,658 (GRCm39)	M22K	probably benign	Het
Mboat2	C	T	12: 25,005,392 (GRCm39)	T389M	probably damaging	Het
Mcoln1	T	G	8: 3,555,924 (GRCm39)	I73S	probably damaging	Het
Myh7	T	A	14: 55,216,920 (GRCm39)	I1146F	possibly damaging	Het
Naa16	G	A	14: 79,578,486 (GRCm39)	T666I	possibly damaging	Het
Ncoa1	A	G	12: 4,385,873 (GRCm39)	S88P	possibly damaging	Het
Obscn	T	C	11: 58,941,334 (GRCm39)	T4496A	possibly damaging	Het
Or13a28	T	C	7: 140,217,652 (GRCm39)	F13L	probably damaging	Het
Or7a35	T	A	10: 78,853,872 (GRCm39)	F239I	probably damaging	Het
Pdxk	G	T	10: 78,277,012 (GRCm39)	A262D	possibly damaging	Het
Pebp4	T	A	14: 70,089,082 (GRCm39)	L68Q	probably damaging	Het
Pfdn5	C	T	15: 102,236,978 (GRCm39)	H77Y	possibly damaging	Het
Pld1	T	C	3: 28,130,651 (GRCm39)	Y484H	probably damaging	Het
Pou3f3	C	A	1: 42,736,560 (GRCm39)	N85K	unknown	Het
Ppm1m	C	A	9: 106,075,144 (GRCm39)	A134S	probably damaging	Het
Prdm11	A	T	2: 92,806,106 (GRCm39)	S281R	possibly damaging	Het
Prdm2	C	A	4: 142,862,434 (GRCm39)	L285F	probably damaging	Het
Ptprq	A	C	10: 107,488,572 (GRCm39)	V955G	probably damaging	Het
Pygb	A	T	2: 150,657,589 (GRCm39)	M351L	probably benign	Het
Rcl1	G	A	19: 29,095,805 (GRCm39)		probably null	Het
Sgip1	A	T	4: 102,786,097 (GRCm39)	T351S	possibly damaging	Het
Slc22a5	T	C	11: 53,760,215 (GRCm39)	N367S	probably damaging	Het
Sox6	A	G	7: 115,143,830 (GRCm39)	V437A	probably benign	Het
Spata16	T	A	3: 26,721,572 (GRCm39)	M31K	possibly damaging	Het
Stab1	C	A	14: 30,879,372 (GRCm39)	V703F	possibly damaging	Het
Tbc1d4	C	T	14: 101,703,190 (GRCm39)	G752R	probably damaging	Het
Tent4b	G	A	8: 88,978,913 (GRCm39)	G505R	probably null	Het
Tes3-ps	C	T	13: 49,647,460 (GRCm39)	A112V	probably benign	Het
Tnfrsf19	T	C	14: 61,208,382 (GRCm39)	T380A	probably benign	Het
Trim75	C	T	8: 65,435,190 (GRCm39)	G420E	probably damaging	Het
Txlnb	A	G	10: 17,703,712 (GRCm39)	D290G	probably benign	Het
Unc5c	T	A	3: 141,534,238 (GRCm39)	F920I	possibly damaging	Het
Vmn1r233	T	A	17: 21,214,237 (GRCm39)	R238*	probably null	Het
Vmn2r113	A	G	17: 23,176,917 (GRCm39)	E567G	probably benign	Het
Vmn2r97	T	A	17: 19,150,662 (GRCm39)	I503K	probably damaging	Het
Wdr62	A	G	7: 29,964,584 (GRCm39)	W387R	probably damaging	Het
Zfp36l2	A	T	17: 84,495,090 (GRCm39)	D11E	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
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
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'- TGTGCCAAGTACAAGACGCTG -3'
(R):5'- CCCAGCTTAAATGCAAAGGTC -3'

Sequencing Primer
(F):5'- TTCCTGGCAGCATAACTC -3'
(R):5'- AAAGGTCACTTTGTCTCTGCCCTTAG -3'

Posted On

2020-09-15