Mutagenetix > Incidental Mutation

Incidental Mutation 'R0398:Ptchd4'

32162

Institutional Source

Beutler Lab

Gene Symbol

Ptchd4

Ensembl Gene

ENSMUSG00000042256

Gene Name

patched domain containing 4

Synonyms

3110082D06Rik

MMRRC Submission

038603-MU

Accession Numbers

Essential gene?

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

Stock #

R0398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42626838-42815968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42688150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 231 (T231A)

Ref Sequence

ENSEMBL: ENSMUSP00000047640 (fasta)

Gene Model

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

AlphaFold

B9EKX1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048691
AA Change: T231A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: T231A

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

0.1551

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.8%
20x: 83.2%

Validation Efficiency

100% (81/81)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,117,010 (GRCm39)	Q546R	probably null	Het
Acr	T	G	15: 89,458,144 (GRCm39)	V275G	probably damaging	Het
Adam5	A	G	8: 25,303,448 (GRCm39)	Y160H	probably benign	Het
Adcy5	T	A	16: 35,089,438 (GRCm39)	M545K	probably damaging	Het
Aoc2	A	G	11: 101,216,379 (GRCm39)	E154G	possibly damaging	Het
Atg2a	T	G	19: 6,296,608 (GRCm39)	L338R	probably damaging	Het
Atp2a1	T	C	7: 126,049,590 (GRCm39)		probably benign	Het
Bbs7	A	G	3: 36,644,866 (GRCm39)	S436P	probably benign	Het
Bpnt1	T	C	1: 185,070,355 (GRCm39)	Y16H	probably benign	Het
Cbll1	A	T	12: 31,542,091 (GRCm39)	F90Y	probably damaging	Het
Cbs	G	T	17: 31,836,216 (GRCm39)	Q411K	probably benign	Het
Cdca2	A	C	14: 67,935,411 (GRCm39)	F435V	probably damaging	Het
Cdh13	T	G	8: 120,040,786 (GRCm39)	S664A	probably damaging	Het
Cdk17	T	A	10: 93,073,702 (GRCm39)	V438E	probably benign	Het
Cep295	T	C	9: 15,266,032 (GRCm39)	D40G	possibly damaging	Het
Col6a1	T	C	10: 76,545,952 (GRCm39)	H840R	unknown	Het
Cpa1	A	G	6: 30,645,250 (GRCm39)	T409A	probably benign	Het
Crlf1	G	A	8: 70,951,739 (GRCm39)		probably benign	Het
E2f2	T	A	4: 135,907,855 (GRCm39)	I184N	probably damaging	Het
Ehbp1	T	C	11: 22,045,886 (GRCm39)	D596G	probably damaging	Het
Elapor2	A	G	5: 9,495,367 (GRCm39)	R724G	probably benign	Het
Ets2	A	G	16: 95,517,267 (GRCm39)	Y333C	probably damaging	Het
Fam178b	A	G	1: 36,671,487 (GRCm39)		probably benign	Het
Fndc3b	A	G	3: 27,515,928 (GRCm39)	V626A	probably benign	Het
Gart	G	T	16: 91,436,337 (GRCm39)	A140E	probably damaging	Het
Gbp7	T	C	3: 142,251,274 (GRCm39)	S477P	possibly damaging	Het
Gm16380	T	C	9: 53,791,453 (GRCm39)		noncoding transcript	Het
Hmcn1	C	A	1: 150,674,565 (GRCm39)	R579M	possibly damaging	Het
Hoxb8	A	C	11: 96,173,937 (GRCm39)	H50P	probably damaging	Het
Hspa4	C	T	11: 53,163,706 (GRCm39)		probably null	Het
Hspa4l	G	A	3: 40,711,429 (GRCm39)		probably benign	Het
Hyal4	A	T	6: 24,756,670 (GRCm39)	Y296F	probably damaging	Het
Igsf8	C	A	1: 172,145,066 (GRCm39)	T131K	probably damaging	Het
Ilvbl	C	T	10: 78,415,373 (GRCm39)	P298L	probably damaging	Het
Jak2	T	A	19: 29,259,788 (GRCm39)	I229N	possibly damaging	Het
Kif1b	T	C	4: 149,288,688 (GRCm39)	D1205G	possibly damaging	Het
Lrrc63	T	C	14: 75,363,910 (GRCm39)	R74G	probably benign	Het
Lvrn	A	G	18: 47,013,760 (GRCm39)	T481A	probably benign	Het
Macf1	T	A	4: 123,244,810 (GRCm39)	T7312S	probably damaging	Het
Magel2	C	T	7: 62,030,299 (GRCm39)	Q1068*	probably null	Het
Mrpl3	A	G	9: 104,941,302 (GRCm39)	Y203C	probably damaging	Het
Nek2	T	A	1: 191,559,473 (GRCm39)	I326N	probably benign	Het
Nlrc4	A	C	17: 74,752,915 (GRCm39)	N489K	probably damaging	Het
Nlrp4f	A	T	13: 65,342,732 (GRCm39)	S304R	possibly damaging	Het
Ogfr	C	G	2: 180,235,492 (GRCm39)	R189G	probably damaging	Het
Or52b4i	T	A	7: 102,191,899 (GRCm39)	L252H	probably damaging	Het
Or5p78	T	A	7: 108,212,162 (GRCm39)	I216N	probably benign	Het
Or5w8	A	T	2: 87,688,401 (GRCm39)	N294I	probably damaging	Het
Orm3	A	G	4: 63,275,885 (GRCm39)	S145G	probably benign	Het
Pclo	A	G	5: 14,731,716 (GRCm39)	E3406G	unknown	Het
Pcx	T	G	19: 4,651,638 (GRCm39)	F4C	probably benign	Het
Pgd	C	A	4: 149,238,339 (GRCm39)	G364V	probably damaging	Het
Pla2g12a	C	A	3: 129,684,045 (GRCm39)	D102E	probably benign	Het
Pnpo	A	T	11: 96,833,253 (GRCm39)	C82*	probably null	Het
Prdm1	T	C	10: 44,315,805 (GRCm39)	N792S	probably damaging	Het
Prim2	A	T	1: 33,523,757 (GRCm39)		probably benign	Het
Proca1	C	A	11: 78,096,094 (GRCm39)	P242Q	probably benign	Het
Psmc5	A	G	11: 106,152,370 (GRCm39)	N129S	probably benign	Het
Qrfpr	C	T	3: 36,235,201 (GRCm39)		probably benign	Het
Rab44	G	A	17: 29,364,344 (GRCm39)		probably benign	Het
Racgap1	T	C	15: 99,526,508 (GRCm39)		probably benign	Het
Rapgef4	A	G	2: 71,861,385 (GRCm39)	E25G	probably damaging	Het
Rpl8	G	C	15: 76,789,246 (GRCm39)		probably benign	Het
Samd12	G	A	15: 53,583,116 (GRCm39)	P73S	possibly damaging	Het
Samd9l	T	A	6: 3,374,502 (GRCm39)	N920Y	probably damaging	Het
Sdk1	T	C	5: 141,948,476 (GRCm39)	V607A	probably benign	Het
Slc25a19	A	G	11: 115,508,401 (GRCm39)	Y196H	probably damaging	Het
Slc39a3	A	T	10: 80,869,621 (GRCm39)	M12K	possibly damaging	Het
Slc5a4a	T	C	10: 76,018,556 (GRCm39)	I501T	possibly damaging	Het
Sp4	A	T	12: 118,262,408 (GRCm39)	V546D	possibly damaging	Het
Ssh3	C	T	19: 4,313,727 (GRCm39)	V511M	possibly damaging	Het
Stard9	T	G	2: 120,526,788 (GRCm39)	V1015G	probably benign	Het
Thoc5	G	T	11: 4,871,978 (GRCm39)	V516F	possibly damaging	Het
Ttc21a	T	A	9: 119,783,628 (GRCm39)	I570N	probably damaging	Het
Ttc4	T	C	4: 106,524,770 (GRCm39)		probably null	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Yipf3	A	G	17: 46,562,411 (GRCm39)	E298G	possibly damaging	Het
Zbtb34	C	A	2: 33,301,060 (GRCm39)	E494*	probably null	Het
Zfhx3	A	G	8: 109,677,878 (GRCm39)	Y2976C	probably damaging	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
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
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'- TCAGGATCAGCACTAGGCTC -3'

Posted On

2013-04-24