Mutagenetix > Incidental Mutation

Incidental Mutation 'R9072:Ptchd4'

689637

Institutional Source

Beutler Lab

Gene Symbol

Ptchd4

Ensembl Gene

ENSMUSG00000042256

Gene Name

patched domain containing 4

Synonyms

3110082D06Rik

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_028474.1; MGI: 1920485

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R9072 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42315947-42507741 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42502759 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 517 (Y517F)

Ref Sequence

ENSEMBL: ENSMUSP00000047640 (fasta)

Gene Model

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

AlphaFold

B9EKX1

Predicted Effect

probably damaging
Transcript: ENSMUST00000048691
AA Change: Y517F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: Y517F

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

0.1874

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,944,392	Y190*	probably null	Het
Agbl3	T	C	6: 34,799,452	C298R	probably damaging	Het
Ankrd26	T	A	6: 118,523,389	K1040N	probably damaging	Het
Ano3	T	A	2: 110,745,898	T93S	probably benign	Het
Apoc3	T	A	9: 46,233,234	I97F	probably benign	Het
Arid5a	A	G	1: 36,319,545	E401G	probably benign	Het
Atxn3	T	C	12: 101,937,471		probably null	Het
Brca1	C	T	11: 101,502,480		probably null	Het
C1ql3	T	A	2: 13,010,387	N154I	probably damaging	Het
Ccdc110	A	T	8: 45,942,838	M589L	probably benign	Het
Ccnb2	A	T	9: 70,410,813	F226I	possibly damaging	Het
Commd8	TTGTCATCT	TT	5: 72,160,984		probably null	Het
Dis3	T	C	14: 99,095,211	T262A	probably benign	Het
Eif4a2	G	A	16: 23,110,653	R234Q	probably benign	Het
Ephx2	G	A	14: 66,086,239	R481*	probably null	Het
Fbxo15	T	C	18: 84,965,520	I331T	possibly damaging	Het
Gfra2	A	G	14: 70,901,495	E121G	possibly damaging	Het
Git1	G	A	11: 77,499,075	A55T	probably benign	Het
Hfm1	T	C	5: 106,898,280	I553V	probably benign	Het
Hydin	G	A	8: 110,267,451		probably null	Het
Iqgap3	A	G	3: 88,109,466	N1085S		Het
Kbtbd12	T	C	6: 88,618,440	Y136C	probably damaging	Het
Kcng3	A	G	17: 83,630,994	Y209H	possibly damaging	Het
Kcnj2	A	T	11: 111,071,838	M19L	possibly damaging	Het
Lonrf2	A	T	1: 38,811,786	F232I	probably damaging	Het
Lrrc31	T	C	3: 30,699,710	D14G	probably benign	Het
Ly6l	G	A	15: 75,449,736	V62I	possibly damaging	Het
March8	T	C	6: 116,401,923	F273L	probably benign	Het
Masp1	A	C	16: 23,469,921	S710A	probably benign	Het
Mcm10	G	A	2: 5,008,603	R73C	possibly damaging	Het
Mcm5	G	A	8: 75,126,306	R682H	probably damaging	Het
Mink1	C	T	11: 70,608,381	T684I	possibly damaging	Het
Mocos	A	T	18: 24,664,032	Q83L	probably damaging	Het
Nags	T	C	11: 102,147,521	L351P	probably damaging	Het
Nalcn	G	A	14: 123,295,451	T1299I	possibly damaging	Het
Nlrp4b	A	G	7: 10,725,943	D824G	probably benign	Het
Nwd1	A	T	8: 72,695,418	M1031L	probably benign	Het
Olfr1164	T	A	2: 88,093,828	Q36L	probably benign	Het
Olfr1188	A	C	2: 88,560,314	I271L	probably benign	Het
Olfr1286	A	T	2: 111,420,360	I197N	possibly damaging	Het
Olfr1466	A	G	19: 13,341,874	T39A	possibly damaging	Het
Olfr657	C	T	7: 104,636,084	R137C	probably benign	Het
Olfr743	C	T	14: 50,533,754	T114I	probably benign	Het
Pan2	T	C	10: 128,315,181	M807T	probably damaging	Het
Parp8	A	T	13: 116,911,415	I222N	probably damaging	Het
Pmm1	C	T	15: 81,955,695	R143H	probably damaging	Het
Pou1f1	T	C	16: 65,531,947	L186P		Het
Ppargc1b	G	A	18: 61,310,659	R494W	probably damaging	Het
Prg4	G	T	1: 150,455,537	P462T	unknown	Het
Ptcd1	T	A	5: 145,154,715	I525L	probably benign	Het
Pum1	T	C	4: 130,752,861	F693S	probably damaging	Het
Ribc2	A	C	15: 85,137,962	Q186P	probably damaging	Het
Sesn2	C	A	4: 132,496,884		probably null	Het
Sgf29	G	A	7: 126,672,654	V284M	probably damaging	Het
Skap2	C	T	6: 51,879,770		probably null	Het
Smap1	T	A	1: 23,922,073	E28V	probably damaging	Het
Smc3	A	G	19: 53,628,769	N538D	probably benign	Het
Spen	T	C	4: 141,476,391	T1642A	unknown	Het
Spred3	G	A	7: 29,166,530	R115*	probably null	Het
Sugt1	T	A	14: 79,628,853	M304K	possibly damaging	Het
Sval1	T	C	6: 41,951,672	I6T	possibly damaging	Het
Svil	T	C	18: 5,097,500	I1574T	probably benign	Het
Tinag	T	A	9: 76,997,018		probably null	Het
Trak1	T	C	9: 121,460,488	L622P	probably damaging	Het
Ttn	C	T	2: 76,755,874	D21838N	probably damaging	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,915,806		probably benign	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn1r73	C	T	7: 11,756,276	A7V	probably benign	Het
Yy1	G	T	12: 108,793,995	G195C	probably benign	Het
Zbtb17	T	A	4: 141,466,365	C607S	possibly damaging	Het
Zfp735	T	C	11: 73,712,234	V668A	probably benign	Het
Zfp819	C	A	7: 43,617,146	T351K	probably damaging	Het
Zfp820	C	A	17: 21,820,050	S99I	possibly damaging	Het

Other mutations in Ptchd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Ptchd4	APN	17	42316926	nonsense	probably null
IGL01360:Ptchd4	APN	17	42317045	missense	probably benign	0.09
IGL01814:Ptchd4	APN	17	42503286	missense	possibly damaging	0.84
IGL01885:Ptchd4	APN	17	42503602	missense	probably damaging	1.00
IGL01929:Ptchd4	APN	17	42503322	missense	probably benign	0.02
IGL02371:Ptchd4	APN	17	42316974	missense	possibly damaging	0.83
IGL02480:Ptchd4	APN	17	42502540	missense	probably benign	0.38
IGL02507:Ptchd4	APN	17	42316873	missense	possibly damaging	0.72
IGL02593:Ptchd4	APN	17	42317146	missense	probably benign	0.24
IGL02861:Ptchd4	APN	17	42377317	missense	probably damaging	1.00
IGL02884:Ptchd4	APN	17	42502449	missense	possibly damaging	0.86
IGL03384:Ptchd4	APN	17	42502590	missense	probably damaging	1.00
PIT4418001:Ptchd4	UTSW	17	42503089	missense	probably damaging	1.00
R0030:Ptchd4	UTSW	17	42317108	nonsense	probably null
R0243:Ptchd4	UTSW	17	42503416	missense	probably damaging	1.00
R0398:Ptchd4	UTSW	17	42377259	missense	possibly damaging	0.95
R0513:Ptchd4	UTSW	17	42503746	missense	probably benign	0.14
R0630:Ptchd4	UTSW	17	42377185	missense	probably benign	0.17
R0662:Ptchd4	UTSW	17	42502576	missense	probably damaging	1.00
R1004:Ptchd4	UTSW	17	42377602	missense	probably benign	0.00
R1433:Ptchd4	UTSW	17	42503715	missense	possibly damaging	0.75
R1451:Ptchd4	UTSW	17	42502918	missense	probably damaging	0.99
R1522:Ptchd4	UTSW	17	42503542	missense	probably damaging	1.00
R1901:Ptchd4	UTSW	17	42503616	missense	probably benign	0.10
R1902:Ptchd4	UTSW	17	42503616	missense	probably benign	0.10
R2135:Ptchd4	UTSW	17	42317074	missense	probably benign	0.01
R3935:Ptchd4	UTSW	17	42503489	missense	possibly damaging	0.80
R4184:Ptchd4	UTSW	17	42502759	missense	probably damaging	0.99
R4552:Ptchd4	UTSW	17	42502455	missense	probably benign	0.00
R4573:Ptchd4	UTSW	17	42502777	missense	probably benign	0.26
R5100:Ptchd4	UTSW	17	42503676	missense	possibly damaging	0.59
R5640:Ptchd4	UTSW	17	42503135	missense	possibly damaging	0.73
R6213:Ptchd4	UTSW	17	42377360	missense	probably benign	0.00
R6704:Ptchd4	UTSW	17	42317040	missense	probably benign	0.00
R7011:Ptchd4	UTSW	17	42503868	missense	probably benign	0.19
R7017:Ptchd4	UTSW	17	42502735	missense	probably damaging	1.00
R7185:Ptchd4	UTSW	17	42503188	missense	probably damaging	1.00
R8112:Ptchd4	UTSW	17	42503175	missense	probably benign	0.25
R8153:Ptchd4	UTSW	17	42503896	missense	probably benign	0.31
R8220:Ptchd4	UTSW	17	42502663	missense	probably benign	0.00
R8547:Ptchd4	UTSW	17	42502621	missense	probably benign	0.01
R9073:Ptchd4	UTSW	17	42502759	missense	probably damaging	0.99
R9205:Ptchd4	UTSW	17	42503385	missense	probably benign	0.00
R9242:Ptchd4	UTSW	17	42316713	nonsense	probably null
R9687:Ptchd4	UTSW	17	42502576	missense	probably damaging	1.00
R9706:Ptchd4	UTSW	17	42503915	makesense	probably null
R9718:Ptchd4	UTSW	17	42502750	missense	probably damaging	0.99
X0062:Ptchd4	UTSW	17	42377464	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCTGTAAGATCCCTTCTGCAG -3'
(R):5'- CTGCAGATCCTCTTGGACAC -3'

Sequencing Primer
(F):5'- TTCTGCAGAATACCTGGACCG -3'
(R):5'- TCCAGTACTCCAGGGGTTCATAGAC -3'

Posted On

2021-11-19