Mutagenetix > Incidental Mutations

Incidental Mutation 'R5100:Ptchd4'

388240

Institutional Source

Beutler Lab

Gene Symbol

Ptchd4

Ensembl Gene

ENSMUSG00000042256

Gene Name

patched domain containing 4

Synonyms

3110082D06Rik

MMRRC Submission

042689-MU

Accession Numbers

Ncbi RefSeq: NM_028474.1; MGI: 1920485

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5100 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42315947-42507741 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42503676 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 823 (I823F)

Ref Sequence

ENSEMBL: ENSMUSP00000047640 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048691
AA Change: I823F

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: I823F

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,166,651	M774K	probably damaging	Het
Adamts3	G	A	5: 89,708,643	T357I	probably damaging	Het
Ap3m2	T	A	8: 22,789,388	M408L	probably benign	Het
Apaf1	A	T	10: 90,997,287	N1116K	probably benign	Het
Arhgap31	A	T	16: 38,601,459	I1415N	probably damaging	Het
Arhgef17	A	T	7: 100,881,756	D1374E	possibly damaging	Het
Asxl1	C	G	2: 153,397,931	N546K	probably damaging	Het
Cobll1	T	A	2: 65,125,901	T337S	probably benign	Het
Depdc1a	A	T	3: 159,515,520	I163L	probably benign	Het
Flrt3	T	A	2: 140,671,384		probably null	Het
Foxn4	A	T	5: 114,256,759	L369H	possibly damaging	Het
Gm11992	T	C	11: 9,061,290	S244P	probably damaging	Het
Gm14412	C	T	2: 177,315,115	C329Y	probably damaging	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gm5113	G	A	7: 30,178,651	V55M	probably damaging	Het
Grhl3	A	G	4: 135,542,675	I599T	probably benign	Het
H2-Q6	G	C	17: 35,425,320	E93Q	probably benign	Het
Hk3	T	C	13: 55,009,030	T570A	probably damaging	Het
Hspb8	T	C	5: 116,415,409	I143M	probably damaging	Het
Kif15	A	G	9: 122,991,994	T655A	probably damaging	Het
Lpin2	G	A	17: 71,243,970	W708*	probably null	Het
Lrit1	T	A	14: 37,062,214	C500S	possibly damaging	Het
Macf1	A	C	4: 123,474,468	C602G	probably benign	Het
Mesd	C	T	7: 83,897,769	R147C	probably damaging	Het
Mfge8	A	T	7: 79,143,300	D139E	probably benign	Het
Ncoa3	G	A	2: 166,050,097	R131Q	probably damaging	Het
Ncoa5	A	G	2: 165,009,389	I188T	probably damaging	Het
Ngp	T	C	9: 110,420,001	L47P	probably damaging	Het
Nhlrc1	T	C	13: 47,014,421	H120R	probably benign	Het
Otos	T	A	1: 92,644,385	H73L	probably damaging	Het
Pcsk5	C	T	19: 17,515,135		probably null	Het
Phc3	T	C	3: 30,922,199	E740G	possibly damaging	Het
Pla2g7	T	C	17: 43,611,376	L382P	probably damaging	Het
Plcd3	C	A	11: 103,078,349	R264L	probably benign	Het
Pms2	A	G	5: 143,928,188	D696G	probably damaging	Het
Scn9a	T	C	2: 66,534,119	R828G	probably damaging	Het
Spred2	T	A	11: 20,021,291	C386*	probably null	Het
Terb1	A	T	8: 104,495,173	L165*	probably null	Het
Tgm2	A	T	2: 158,127,164	S430R	probably benign	Het
Tnxb	A	T	17: 34,710,928	I2879F	probably damaging	Het
Trpm3	T	G	19: 22,918,766	V977G	probably damaging	Het
Wnt5b	A	C	6: 119,440,488	S139A	probably benign	Het
Zfp820	C	A	17: 21,821,073	V52L	possibly damaging	Het
Zfyve26	T	A	12: 79,280,058	R764*	probably null	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
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
X0062:Ptchd4	UTSW	17	42377464	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGAATGTCGACATGGATTGC -3'
(R):5'- ACGTGATCAGGGTTCTCTTG -3'

Sequencing Primer
(F):5'- GAATGTCGACATGGATTGCATTTC -3'
(R):5'- ATCAGGGTTCTCTTGGATTTCTATGC -3'

Posted On

2016-06-06