Mutagenetix > Incidental Mutation

Incidental Mutation 'R0630:Ptchd4'

57886

Institutional Source

Beutler Lab

Gene Symbol

Ptchd4

Ensembl Gene

ENSMUSG00000042256

Gene Name

patched domain containing 4

Synonyms

3110082D06Rik

MMRRC Submission

038819-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R0630 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42626838-42815968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42688076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 206 (H206L)

Ref Sequence

ENSEMBL: ENSMUSP00000047640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048691]

AlphaFold

B9EKX1

Predicted Effect

probably benign
Transcript: ENSMUST00000048691
AA Change: H206L

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: H206L

Domain	Start	End	E-Value	Type
Pfam:Patched	58	867	6.1e-102	PFAM
Pfam:Sterol-sensing	312	464	2.9e-26	PFAM
low complexity region	869	891	N/A	INTRINSIC

Meta Mutation Damage Score

0.1838

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

97% (108/111)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,766,104 (GRCm39)		probably benign	Het
4930562C15Rik	T	A	16: 4,668,803 (GRCm39)	N731K	possibly damaging	Het
Adgra1	A	T	7: 139,432,500 (GRCm39)	K113*	probably null	Het
Adgrl2	T	C	3: 148,544,880 (GRCm39)	I659M	probably damaging	Het
Adm	G	T	7: 110,227,755 (GRCm39)	R41L	probably damaging	Het
Aimp2	T	C	5: 143,843,419 (GRCm39)	E97G	probably benign	Het
Aox1	T	C	1: 58,376,480 (GRCm39)		probably benign	Het
Arhgap20	G	A	9: 51,760,684 (GRCm39)	R809H	probably damaging	Het
Arsa	T	C	15: 89,358,207 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,294,547 (GRCm39)	A88S	probably damaging	Het
Atm	G	A	9: 53,442,922 (GRCm39)		probably benign	Het
Atp1a2	A	T	1: 172,118,842 (GRCm39)	I100N	possibly damaging	Het
Camta2	G	C	11: 70,569,131 (GRCm39)	L605V	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Ccdc60	A	G	5: 116,274,440 (GRCm39)	V388A	possibly damaging	Het
Cdk14	C	T	5: 5,185,422 (GRCm39)		probably benign	Het
Cdyl2	C	T	8: 117,350,774 (GRCm39)	G119E	probably benign	Het
Celsr3	A	G	9: 108,704,891 (GRCm39)	N458S	probably damaging	Het
Chd3	A	C	11: 69,238,021 (GRCm39)	H1808Q	probably damaging	Het
Cntnap2	T	C	6: 46,965,694 (GRCm39)	V835A	probably damaging	Het
Col4a1	C	A	8: 11,249,889 (GRCm39)		probably benign	Het
Cpsf1	A	G	15: 76,486,171 (GRCm39)	V357A	probably damaging	Het
Cryzl1	A	G	16: 91,504,107 (GRCm39)		probably benign	Het
Cts8	T	C	13: 61,401,256 (GRCm39)	K90R	possibly damaging	Het
Cux1	A	G	5: 136,315,689 (GRCm39)	V1117A	probably damaging	Het
Dbx1	T	C	7: 49,282,444 (GRCm39)	T254A	probably damaging	Het
Dgki	C	A	6: 36,977,133 (GRCm39)	C659F	probably damaging	Het
Dnajc1	T	G	2: 18,236,612 (GRCm39)	D332A	probably damaging	Het
Dock8	C	A	19: 25,038,524 (GRCm39)	T70K	probably benign	Het
Dsc1	T	A	18: 20,218,919 (GRCm39)	T828S	probably damaging	Het
Dst	T	G	1: 34,232,531 (GRCm39)	V3510G	probably benign	Het
Dst	T	C	1: 34,238,554 (GRCm39)	V1738A	probably damaging	Het
Ehmt2	A	G	17: 35,118,818 (GRCm39)	T167A	probably benign	Het
Eri2	A	T	7: 119,385,640 (GRCm39)	V287E	probably benign	Het
Fat4	T	A	3: 39,054,321 (GRCm39)	L4121H	probably damaging	Het
Fbn1	T	A	2: 125,236,690 (GRCm39)	D330V	possibly damaging	Het
Fign	A	G	2: 63,810,485 (GRCm39)	Y262H	possibly damaging	Het
Fnd3c2	C	T	X: 105,282,763 (GRCm39)	M593I	probably benign	Het
Fndc7	T	A	3: 108,783,931 (GRCm39)	E226V	probably damaging	Het
Gad2	A	T	2: 22,580,348 (GRCm39)	Q583L	probably benign	Het
Gcn1	G	A	5: 115,719,148 (GRCm39)	A334T	probably benign	Het
Ggt1	A	G	10: 75,421,336 (GRCm39)		probably null	Het
Gli2	C	T	1: 118,769,648 (GRCm39)	G635R	possibly damaging	Het
Gm10253	T	C	3: 88,646,420 (GRCm39)	E93G	unknown	Het
Gm10428	A	G	11: 62,644,256 (GRCm39)		probably benign	Het
Gm7104	T	C	12: 88,252,479 (GRCm39)		noncoding transcript	Het
Gm8258	T	G	5: 104,924,385 (GRCm39)		noncoding transcript	Het
Gpr107	A	G	2: 31,104,309 (GRCm39)	N538S	possibly damaging	Het
Hars1	T	C	18: 36,904,442 (GRCm39)	E190G	probably damaging	Het
Hoxc10	C	T	15: 102,875,917 (GRCm39)	P209S	probably benign	Het
Ighg3	T	C	12: 113,323,714 (GRCm39)		probably benign	Het
Igsf10	C	A	3: 59,233,483 (GRCm39)	W1750L	probably damaging	Het
Igsf5	C	A	16: 96,174,023 (GRCm39)		probably benign	Het
Itga10	T	C	3: 96,563,615 (GRCm39)		probably benign	Het
Ldhd	T	C	8: 112,353,934 (GRCm39)	K422R	probably benign	Het
Masp1	T	C	16: 23,271,169 (GRCm39)	K693R	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Mbd1	T	A	18: 74,409,798 (GRCm39)		probably benign	Het
Mdm4	G	A	1: 132,919,491 (GRCm39)	T459I	possibly damaging	Het
Megf10	A	T	18: 57,421,067 (GRCm39)	I902F	probably benign	Het
Mta3	A	G	17: 84,022,056 (GRCm39)	N37S	probably damaging	Het
Mterf3	T	A	13: 67,060,372 (GRCm39)	Y372F	probably damaging	Het
Nbeal2	A	G	9: 110,465,102 (GRCm39)		probably benign	Het
Nbr1	T	C	11: 101,457,913 (GRCm39)		probably benign	Het
Ndst3	A	G	3: 123,355,720 (GRCm39)	M103T	probably damaging	Het
Notch3	C	A	17: 32,366,446 (GRCm39)		probably benign	Het
Npr2	A	T	4: 43,641,219 (GRCm39)	E415V	probably benign	Het
Or2n1c	A	G	17: 38,519,304 (GRCm39)	H56R	probably damaging	Het
Or4k40	T	C	2: 111,251,191 (GRCm39)	Y35C	probably damaging	Het
Or52h9	G	C	7: 104,202,998 (GRCm39)	V291L	probably benign	Het
Or5be3	A	T	2: 86,863,653 (GRCm39)	M304K	probably benign	Het
Or8b50	T	A	9: 38,518,192 (GRCm39)	F144I	probably benign	Het
Pappa2	T	A	1: 158,660,343 (GRCm39)	D1246V	probably benign	Het
Pcdhgc5	A	T	18: 37,954,931 (GRCm39)	D735V	probably benign	Het
Pik3ca	A	G	3: 32,504,176 (GRCm39)	Y622C	possibly damaging	Het
Plppr2	A	G	9: 21,859,197 (GRCm39)	D438G	probably benign	Het
Ppfibp2	A	T	7: 107,337,806 (GRCm39)		probably null	Het
Prdm15	A	T	16: 97,638,907 (GRCm39)	L77Q	probably null	Het
Prdm8	T	C	5: 98,332,380 (GRCm39)	S94P	probably damaging	Het
Prkdc	A	T	16: 15,628,665 (GRCm39)	Q3470L	probably damaging	Het
Prl3c1	T	C	13: 27,384,674 (GRCm39)		probably benign	Het
Rack1	G	A	11: 48,694,804 (GRCm39)		probably benign	Het
Rere	T	C	4: 150,703,545 (GRCm39)	L1509P	probably damaging	Het
Rgma	T	A	7: 73,067,366 (GRCm39)	L301Q	probably damaging	Het
Rgs6	T	A	12: 83,094,324 (GRCm39)		probably benign	Het
Rictor	C	A	15: 6,823,973 (GRCm39)	R1613S	probably damaging	Het
Ripk1	T	G	13: 34,211,764 (GRCm39)	F358C	probably damaging	Het
Robo2	T	C	16: 73,713,093 (GRCm39)	D1217G	probably benign	Het
Shc2	A	T	10: 79,461,975 (GRCm39)	W357R	probably null	Het
Slc25a45	T	C	19: 5,930,556 (GRCm39)	L81P	probably damaging	Het
Slc9c1	A	T	16: 45,363,483 (GRCm39)		probably benign	Het
Spats2	T	C	15: 99,083,909 (GRCm39)		probably null	Het
Stac3	A	T	10: 127,343,632 (GRCm39)	E258V	probably damaging	Het
Thada	A	G	17: 84,536,603 (GRCm39)	S1648P	probably damaging	Het
Tmem168	T	C	6: 13,583,064 (GRCm39)	T222A	probably benign	Het
Tmtc4	T	C	14: 123,163,502 (GRCm39)		probably benign	Het
Trappc14	A	G	5: 138,260,551 (GRCm39)	S292P	probably damaging	Het
Trim38	T	G	13: 23,975,115 (GRCm39)	Y351*	probably null	Het
Trip12	T	C	1: 84,771,636 (GRCm39)	R213G	possibly damaging	Het
Vav3	C	T	3: 109,331,328 (GRCm39)	R76W	probably damaging	Het
Vmn1r63	G	T	7: 5,806,263 (GRCm39)	P123H	probably damaging	Het
Wdr5	A	G	2: 27,410,619 (GRCm39)	N130S	probably benign	Het
Wnk4	C	A	11: 101,156,212 (GRCm39)	R27S	probably damaging	Het
Ykt6	G	A	11: 5,909,323 (GRCm39)	S44N	probably benign	Het
Ythdc1	T	A	5: 86,957,207 (GRCm39)		probably benign	Het

Other mutations in Ptchd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Ptchd4	APN	17	42,627,817 (GRCm39)	nonsense	probably null
IGL01360:Ptchd4	APN	17	42,627,936 (GRCm39)	missense	probably benign	0.09
IGL01814:Ptchd4	APN	17	42,814,177 (GRCm39)	missense	possibly damaging	0.84
IGL01885:Ptchd4	APN	17	42,814,493 (GRCm39)	missense	probably damaging	1.00
IGL01929:Ptchd4	APN	17	42,814,213 (GRCm39)	missense	probably benign	0.02
IGL02371:Ptchd4	APN	17	42,627,865 (GRCm39)	missense	possibly damaging	0.83
IGL02480:Ptchd4	APN	17	42,813,431 (GRCm39)	missense	probably benign	0.38
IGL02507:Ptchd4	APN	17	42,627,764 (GRCm39)	missense	possibly damaging	0.72
IGL02593:Ptchd4	APN	17	42,628,037 (GRCm39)	missense	probably benign	0.24
IGL02861:Ptchd4	APN	17	42,688,208 (GRCm39)	missense	probably damaging	1.00
IGL02884:Ptchd4	APN	17	42,813,340 (GRCm39)	missense	possibly damaging	0.86
IGL03384:Ptchd4	APN	17	42,813,481 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Ptchd4	UTSW	17	42,813,980 (GRCm39)	missense	probably damaging	1.00
R0030:Ptchd4	UTSW	17	42,627,999 (GRCm39)	nonsense	probably null
R0243:Ptchd4	UTSW	17	42,814,307 (GRCm39)	missense	probably damaging	1.00
R0398:Ptchd4	UTSW	17	42,688,150 (GRCm39)	missense	possibly damaging	0.95
R0513:Ptchd4	UTSW	17	42,814,637 (GRCm39)	missense	probably benign	0.14
R0662:Ptchd4	UTSW	17	42,813,467 (GRCm39)	missense	probably damaging	1.00
R1004:Ptchd4	UTSW	17	42,688,493 (GRCm39)	missense	probably benign	0.00
R1433:Ptchd4	UTSW	17	42,814,606 (GRCm39)	missense	possibly damaging	0.75
R1451:Ptchd4	UTSW	17	42,813,809 (GRCm39)	missense	probably damaging	0.99
R1522:Ptchd4	UTSW	17	42,814,433 (GRCm39)	missense	probably damaging	1.00
R1901:Ptchd4	UTSW	17	42,814,507 (GRCm39)	missense	probably benign	0.10
R1902:Ptchd4	UTSW	17	42,814,507 (GRCm39)	missense	probably benign	0.10
R2135:Ptchd4	UTSW	17	42,627,965 (GRCm39)	missense	probably benign	0.01
R3935:Ptchd4	UTSW	17	42,814,380 (GRCm39)	missense	possibly damaging	0.80
R4184:Ptchd4	UTSW	17	42,813,650 (GRCm39)	missense	probably damaging	0.99
R4552:Ptchd4	UTSW	17	42,813,346 (GRCm39)	missense	probably benign	0.00
R4573:Ptchd4	UTSW	17	42,813,668 (GRCm39)	missense	probably benign	0.26
R5100:Ptchd4	UTSW	17	42,814,567 (GRCm39)	missense	possibly damaging	0.59
R5640:Ptchd4	UTSW	17	42,814,026 (GRCm39)	missense	possibly damaging	0.73
R6213:Ptchd4	UTSW	17	42,688,251 (GRCm39)	missense	probably benign	0.00
R6704:Ptchd4	UTSW	17	42,627,931 (GRCm39)	missense	probably benign	0.00
R7011:Ptchd4	UTSW	17	42,814,759 (GRCm39)	missense	probably benign	0.19
R7017:Ptchd4	UTSW	17	42,813,626 (GRCm39)	missense	probably damaging	1.00
R7185:Ptchd4	UTSW	17	42,814,079 (GRCm39)	missense	probably damaging	1.00
R8112:Ptchd4	UTSW	17	42,814,066 (GRCm39)	missense	probably benign	0.25
R8153:Ptchd4	UTSW	17	42,814,787 (GRCm39)	missense	probably benign	0.31
R8220:Ptchd4	UTSW	17	42,813,554 (GRCm39)	missense	probably benign	0.00
R8547:Ptchd4	UTSW	17	42,813,512 (GRCm39)	missense	probably benign	0.01
R9072:Ptchd4	UTSW	17	42,813,650 (GRCm39)	missense	probably damaging	0.99
R9073:Ptchd4	UTSW	17	42,813,650 (GRCm39)	missense	probably damaging	0.99
R9205:Ptchd4	UTSW	17	42,814,276 (GRCm39)	missense	probably benign	0.00
R9242:Ptchd4	UTSW	17	42,627,604 (GRCm39)	nonsense	probably null
R9687:Ptchd4	UTSW	17	42,813,467 (GRCm39)	missense	probably damaging	1.00
R9706:Ptchd4	UTSW	17	42,814,806 (GRCm39)	makesense	probably null
R9718:Ptchd4	UTSW	17	42,813,641 (GRCm39)	missense	probably damaging	0.99
X0062:Ptchd4	UTSW	17	42,688,355 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCCATGTAGCTCCAAGAGGTTGAG -3'
(R):5'- TGGAAATGCAGACCGTGAGCAC -3'

Sequencing Primer
(F):5'- GTTGAGACTAAAAGCCTGACTTTCC -3'
(R):5'- TCTCTCCAGAGGCTAAAAGATG -3'

Posted On

2013-07-11