Mutagenetix > Incidental Mutation

Incidental Mutation 'R5640:Ptchd4'

440640

Institutional Source

Beutler Lab

Gene Symbol

Ptchd4

Ensembl Gene

ENSMUSG00000042256

Gene Name

patched domain containing 4

Synonyms

3110082D06Rik

MMRRC Submission

043289-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R5640 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42626838-42815968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42814026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 642 (H642Q)

Ref Sequence

ENSEMBL: ENSMUSP00000047640 (fasta)

Gene Model

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

AlphaFold

B9EKX1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048691
AA Change: H642Q

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: H642Q

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,861,511 (GRCm39)	Y220C	probably damaging	Het
Actl6a	A	G	3: 32,772,199 (GRCm39)	T170A	probably damaging	Het
Adamts8	T	C	9: 30,867,796 (GRCm39)	V540A	probably benign	Het
Aga	T	C	8: 53,964,919 (GRCm39)	L27P	probably damaging	Het
Agmat	T	A	4: 141,483,134 (GRCm39)	H189Q	probably damaging	Het
Alx3	C	A	3: 107,507,977 (GRCm39)	T162K	probably damaging	Het
Armc2	T	A	10: 41,887,894 (GRCm39)	I30L	possibly damaging	Het
Atp10d	T	G	5: 72,404,552 (GRCm39)	Y487D	probably damaging	Het
Atp13a4	C	T	16: 29,234,649 (GRCm39)	M908I	probably damaging	Het
B4galt2	T	G	4: 117,731,195 (GRCm39)	N322T	probably benign	Het
Bmal1	C	T	7: 112,907,888 (GRCm39)	P530L	probably damaging	Het
Brdt	A	T	5: 107,507,174 (GRCm39)	K525*	probably null	Het
Ccdc168	T	C	1: 44,101,087 (GRCm39)	I4V	probably benign	Het
Ces3a	T	A	8: 105,778,377 (GRCm39)	M246K	probably benign	Het
Chd9	T	A	8: 91,763,190 (GRCm39)	H2338Q	probably damaging	Het
Cyp3a16	T	A	5: 145,389,633 (GRCm39)	D244V	possibly damaging	Het
Dhrs9	C	A	2: 69,224,822 (GRCm39)	A170E	probably damaging	Het
Dlg5	T	C	14: 24,220,529 (GRCm39)	N550D	probably damaging	Het
Dnah8	C	T	17: 31,022,082 (GRCm39)	T3894I	probably damaging	Het
Dpys	T	C	15: 39,705,462 (GRCm39)	H217R	probably damaging	Het
Dpysl2	C	T	14: 67,071,817 (GRCm39)	V108I	probably benign	Het
Eprs1	A	G	1: 185,106,381 (GRCm39)	T199A	probably benign	Het
Fads1	A	G	19: 10,163,767 (GRCm39)	D183G	probably damaging	Het
Fam110b	T	G	4: 5,798,689 (GRCm39)	Y36D	probably damaging	Het
Fbxl21	G	A	13: 56,685,194 (GRCm39)	D407N	probably benign	Het
Fuca2	G	A	10: 13,383,174 (GRCm39)		probably null	Het
Gnas	C	A	2: 174,126,764 (GRCm39)	R100S	probably benign	Het
Gse1	A	G	8: 121,289,416 (GRCm39)	H90R	possibly damaging	Het
Hoxc10	G	T	15: 102,875,702 (GRCm39)	C137F	probably benign	Het
Ipp	T	G	4: 116,377,886 (GRCm39)	L252R	possibly damaging	Het
Jmjd1c	T	A	10: 67,061,857 (GRCm39)	S1403R	probably benign	Het
Kif19a	A	G	11: 114,670,041 (GRCm39)	M79V	probably benign	Het
Lipo4	T	C	19: 33,478,986 (GRCm39)	T285A	possibly damaging	Het
Lrrc66	A	T	5: 73,765,977 (GRCm39)	D355E	probably benign	Het
Lrsam1	T	A	2: 32,835,864 (GRCm39)	Q301L	probably benign	Het
Med6	C	T	12: 81,628,628 (GRCm39)	R138Q	probably damaging	Het
Nlrc5	A	G	8: 95,202,421 (GRCm39)	T174A	probably benign	Het
Nrbp1	C	T	5: 31,406,929 (GRCm39)	R322W	possibly damaging	Het
Or10ak14	T	A	4: 118,610,986 (GRCm39)	T250S	probably benign	Het
Or11g24	C	A	14: 50,662,111 (GRCm39)	A45D	probably benign	Het
Or4a47	T	A	2: 89,666,282 (GRCm39)	E2D	probably benign	Het
Pde3a	A	G	6: 141,429,641 (GRCm39)	E734G	probably damaging	Het
Pgap6	C	T	17: 26,337,846 (GRCm39)	T410I	possibly damaging	Het
Pnpla7	C	T	2: 24,893,013 (GRCm39)	T167I	possibly damaging	Het
Pop7	T	C	5: 137,500,321 (GRCm39)	N4S	possibly damaging	Het
Ppm1h	C	A	10: 122,618,183 (GRCm39)	P114Q	probably benign	Het
Prdm16	T	C	4: 154,426,367 (GRCm39)	T473A	probably benign	Het
Prdm6	T	C	18: 53,669,813 (GRCm39)		probably null	Het
Prkdc	T	G	16: 15,647,633 (GRCm39)	W3686G	possibly damaging	Het
Rad1	A	G	15: 10,496,009 (GRCm39)	Y228C	possibly damaging	Het
Rgs22	G	A	15: 36,107,101 (GRCm39)	T56I	probably benign	Het
Rnf135	C	A	11: 80,084,733 (GRCm39)	H169N	probably benign	Het
Rnft1	C	T	11: 86,377,319 (GRCm39)	Q128*	probably null	Het
Sez6	T	C	11: 77,864,585 (GRCm39)		probably benign	Het
Sh3rf3	A	G	10: 58,649,769 (GRCm39)	S125G	probably benign	Het
Sik2	T	C	9: 50,826,806 (GRCm39)	E295G	possibly damaging	Het
Themis	A	G	10: 28,739,372 (GRCm39)	Q614R	probably damaging	Het
Thsd7b	T	A	1: 130,044,408 (GRCm39)	C1129*	probably null	Het
Tmem68	A	T	4: 3,569,512 (GRCm39)	F59L	probably benign	Het
Vmn2r107	A	G	17: 20,595,426 (GRCm39)	T660A	probably damaging	Het
Vwa5b2	G	T	16: 20,416,292 (GRCm39)	C484F	probably damaging	Het
Zfp418	T	A	7: 7,184,980 (GRCm39)	C314*	probably null	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
R0630:Ptchd4	UTSW	17	42,688,076 (GRCm39)	missense	probably benign	0.17
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
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'- AACCCCTGGAGTACTGGAAC -3'
(R):5'- GGCACAGTGACTGACAAACTG -3'

Sequencing Primer
(F):5'- TGGAACAGCAGTGTCCAAG -3'
(R):5'- CAGTGACTGACAAACTGTAATGGTC -3'

Posted On

2016-11-08