Mutagenetix > Incidental Mutation

Incidental Mutation 'R7185:Ptchd4'

559266

Institutional Source

Beutler Lab

Gene Symbol

Ptchd4

Ensembl Gene

ENSMUSG00000042256

Gene Name

patched domain containing 4

Synonyms

3110082D06Rik

MMRRC Submission

045237-MU

Accession Numbers

Essential gene?

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

Stock #

R7185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42626838-42815968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42814079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 660 (A660D)

Ref Sequence

ENSEMBL: ENSMUSP00000047640 (fasta)

Gene Model

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

AlphaFold

B9EKX1

Predicted Effect

probably damaging
Transcript: ENSMUST00000048691
AA Change: A660D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: A660D

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

0.3992

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	T	A	11: 117,725,599 (GRCm39)	D95E	possibly damaging	Het
Ak7	A	G	12: 105,708,535 (GRCm39)	E330G	probably damaging	Het
B3gat2	A	C	1: 23,802,272 (GRCm39)	D186A	probably damaging	Het
Baz1a	G	A	12: 55,022,093 (GRCm39)	T63M	probably damaging	Het
Bhmt2	A	T	13: 93,799,779 (GRCm39)	M219K	probably benign	Het
Cd200r1	A	G	16: 44,609,975 (GRCm39)	T65A	probably benign	Het
Cdc14a	T	C	3: 116,087,676 (GRCm39)	E494G	probably benign	Het
Cenpf	A	G	1: 189,385,686 (GRCm39)	L2198P	probably damaging	Het
Col4a2	T	A	8: 11,449,739 (GRCm39)	D117E	probably damaging	Het
Ddr2	C	A	1: 169,814,623 (GRCm39)	V607L	probably damaging	Het
Dennd4c	A	G	4: 86,729,687 (GRCm39)	Y763C	probably damaging	Het
Ecscr	T	A	18: 35,849,857 (GRCm39)	T93S	probably benign	Het
Eogt	C	T	6: 97,097,139 (GRCm39)	R321H	probably damaging	Het
Fam174c	G	A	10: 80,008,963 (GRCm39)	G55E	probably damaging	Het
Fras1	T	C	5: 96,784,635 (GRCm39)	S873P	probably damaging	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 141,710,266 (GRCm39)		probably benign	Het
Gm8247	A	G	14: 44,823,859 (GRCm39)	I182V		Het
Gpatch2	T	C	1: 186,958,394 (GRCm39)	S250P	probably damaging	Het
Gramd1b	T	C	9: 40,244,859 (GRCm39)	D183G	probably benign	Het
Hspa5	T	C	2: 34,665,138 (GRCm39)	V433A	probably damaging	Het
Igkv8-30	C	A	6: 70,094,590 (GRCm39)	Q4H	probably benign	Het
Igkv8-30	T	G	6: 70,094,591 (GRCm39)	Q4P	probably damaging	Het
Kcnj5	T	G	9: 32,233,472 (GRCm39)	N281T	probably damaging	Het
L1td1	A	G	4: 98,624,855 (GRCm39)	E350G	possibly damaging	Het
Layn	T	C	9: 50,985,173 (GRCm39)	T128A	possibly damaging	Het
Liph	T	C	16: 21,814,089 (GRCm39)	M11V	probably benign	Het
Lrp1b	C	T	2: 40,691,524 (GRCm39)		probably null	Het
Mcrip1	A	C	11: 120,435,505 (GRCm39)		probably null	Het
Myh1	G	A	11: 67,098,285 (GRCm39)	E486K	probably damaging	Het
Nav1	T	C	1: 135,398,746 (GRCm39)	K612R	possibly damaging	Het
Nek10	A	G	14: 14,846,621 (GRCm38)	K245E	probably benign	Het
Nipal1	T	A	5: 72,824,198 (GRCm39)	S181T	probably damaging	Het
Nme8	A	C	13: 19,862,053 (GRCm39)	L192R	probably damaging	Het
Nol7	G	A	13: 43,560,307 (GRCm39)		probably null	Het
Oas1b	G	A	5: 120,955,837 (GRCm39)	R205H	not run	Het
Or13j1	A	G	4: 43,706,082 (GRCm39)	I162T	possibly damaging	Het
Or4f56	T	G	2: 111,704,167 (GRCm39)	E11A	possibly damaging	Het
Or5w15	A	G	2: 87,568,489 (GRCm39)	Y60H	probably damaging	Het
Pcdhgb6	T	C	18: 37,876,701 (GRCm39)	S470P	probably benign	Het
Pdzk1ip1	A	T	4: 114,946,305 (GRCm39)	H55L	possibly damaging	Het
Pibf1	T	A	14: 99,344,752 (GRCm39)	M124K	possibly damaging	Het
Prr36	C	T	8: 4,266,458 (GRCm39)	G31R	probably damaging	Het
Qsox2	A	G	2: 26,110,718 (GRCm39)	V166A	possibly damaging	Het
Rb1cc1	A	T	1: 6,308,607 (GRCm39)	Y164F	probably damaging	Het
Rest	C	A	5: 77,430,331 (GRCm39)	H917N	probably benign	Het
Rlig1	T	C	10: 100,425,073 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,315,024 (GRCm39)	C955R		Het
Scn7a	T	A	2: 66,518,139 (GRCm39)	N1024I	possibly damaging	Het
Sec11c	T	A	18: 65,947,963 (GRCm39)	D134E	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spo11	T	A	2: 172,823,985 (GRCm39)		probably null	Het
Srd5a3	T	C	5: 76,301,419 (GRCm39)	I216T	probably benign	Het
Tcaf3	T	C	6: 42,570,864 (GRCm39)	N296S	probably benign	Het
Tepsin	T	C	11: 119,984,643 (GRCm39)	D259G	probably damaging	Het
Themis	G	A	10: 28,657,873 (GRCm39)	S300N	probably benign	Het
Trhr2	T	A	8: 123,087,396 (GRCm39)	T15S	probably benign	Het
Uts2r	T	C	11: 121,051,706 (GRCm39)	V190A	probably benign	Het
Vmn2r77	A	C	7: 86,451,035 (GRCm39)	D307A	probably benign	Het
Xpa	G	T	4: 46,183,078 (GRCm39)	T237K	probably benign	Het
Zfp1006	A	T	8: 129,946,502 (GRCm39)	C108S	probably benign	Het
Zfp335	A	G	2: 164,735,164 (GRCm39)		probably null	Het
Zfp451	A	T	1: 33,808,974 (GRCm39)	D962E	probably damaging	Het
Zfp60	A	G	7: 27,437,830 (GRCm39)	T46A	probably damaging	Het
Zfy1	G	A	Y: 725,464 (GRCm39)	S767L	possibly 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
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
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
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'- TGGAACAGCAGTGTCCAAG -3'
(R):5'- AAGCCTGCGATCAGAACAGG -3'

Sequencing Primer
(F):5'- CCAAGAGGATCTGCAGAGGCTC -3'
(R):5'- GCACAGTGACTGACAAACTG -3'

Posted On

2019-06-26