Mutagenetix > Incidental Mutation

Incidental Mutation 'R9687:Ptchd4'

728941

Institutional Source

Beutler Lab

Gene Symbol

Ptchd4

Ensembl Gene

ENSMUSG00000042256

Gene Name

patched domain containing 4

Synonyms

3110082D06Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42626838-42815968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42813467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 456 (Y456C)

Ref Sequence

ENSEMBL: ENSMUSP00000047640 (fasta)

Gene Model

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

AlphaFold

B9EKX1

Predicted Effect

probably damaging
Transcript: ENSMUST00000048691
AA Change: Y456C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: Y456C

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,839,249 (GRCm39)	L446P	probably damaging	Het
Abcc9	T	C	6: 142,578,889 (GRCm39)	T927A	probably benign	Het
Abraxas2	A	G	7: 132,482,577 (GRCm39)	T258A	probably benign	Het
Akna	A	T	4: 63,292,674 (GRCm39)	C1078*	probably null	Het
Arhgap24	T	A	5: 102,994,022 (GRCm39)	F34L	probably benign	Het
Cpa5	C	T	6: 30,614,041 (GRCm39)	T61I	probably benign	Het
Crebrf	A	G	17: 26,982,601 (GRCm39)	*654W	probably null	Het
Dchs1	C	A	7: 105,407,191 (GRCm39)	R2134L	probably damaging	Het
Dcps	T	C	9: 35,035,978 (GRCm39)	N303D	probably damaging	Het
Ddhd1	C	T	14: 45,848,190 (GRCm39)	E527K	probably damaging	Het
Dnah14	T	A	1: 181,425,978 (GRCm39)	M174K	probably benign	Het
Ehd1	A	G	19: 6,348,330 (GRCm39)	D436G		Het
Entrep1	A	G	19: 23,957,029 (GRCm39)	I327T	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Etv1	T	C	12: 38,911,361 (GRCm39)	Y396H	probably damaging	Het
Fbxo11	A	G	17: 88,316,494 (GRCm39)	I293T		Het
Gcfc2	T	A	6: 81,918,323 (GRCm39)	S338T	probably damaging	Het
Gm10272	T	C	10: 77,542,764 (GRCm39)	V102A	possibly damaging	Het
Gm11110	T	C	17: 57,410,439 (GRCm39)	T20A	unknown	Het
Gna14	G	A	19: 16,582,350 (GRCm39)	R206Q		Het
Gpm6a	T	C	8: 55,503,209 (GRCm39)	Y153H	possibly damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
H2-M10.6	G	A	17: 37,125,147 (GRCm39)	V313I	probably benign	Het
Igkv8-19	T	C	6: 70,318,005 (GRCm39)	I74V	probably benign	Het
Kif24	A	G	4: 41,428,546 (GRCm39)	L138P	probably damaging	Het
Kif26a	A	G	12: 112,143,625 (GRCm39)	E1293G	probably damaging	Het
Lrp1	A	C	10: 127,402,562 (GRCm39)	L2203R	probably damaging	Het
Ms4a6b	A	G	19: 11,497,806 (GRCm39)	D35G	possibly damaging	Het
Myo1h	A	T	5: 114,458,769 (GRCm39)	D184V		Het
Ncdn	G	A	4: 126,642,467 (GRCm39)	R397W	probably damaging	Het
Ncor1	A	T	11: 62,260,193 (GRCm39)	I519N	possibly damaging	Het
Obsl1	A	G	1: 75,479,670 (GRCm39)	V575A	probably damaging	Het
Or2y15	T	C	11: 49,350,518 (GRCm39)	F4S	probably benign	Het
Or5m8	G	T	2: 85,822,220 (GRCm39)	V20L	probably benign	Het
Or7a35	T	A	10: 78,853,843 (GRCm39)	I229N	probably damaging	Het
Osbpl5	A	G	7: 143,247,598 (GRCm39)	Y747H	possibly damaging	Het
Pcdh18	T	A	3: 49,711,036 (GRCm39)	D93V	probably damaging	Het
Ppef2	T	A	5: 92,386,746 (GRCm39)	D397V	probably benign	Het
Ppfia4	G	A	1: 134,245,694 (GRCm39)	T620I	probably benign	Het
Ppp1r9a	T	C	6: 4,905,978 (GRCm39)	S178P	probably damaging	Het
Pxk	A	G	14: 8,151,567 (GRCm38)	I461V	possibly damaging	Het
Rab18	T	A	18: 6,784,622 (GRCm39)	N104K	probably benign	Het
Sars1	A	G	3: 108,343,221 (GRCm39)	L90P	probably benign	Het
Scaf8	T	A	17: 3,221,410 (GRCm39)	I299N	unknown	Het
Sh3bp2	C	T	5: 34,716,977 (GRCm39)	P463S	probably benign	Het
Slc12a3	A	G	8: 95,075,208 (GRCm39)	N734S	possibly damaging	Het
Slc12a7	G	T	13: 73,938,796 (GRCm39)	R191L	probably damaging	Het
Slc7a12	A	G	3: 14,545,960 (GRCm39)	Y35C	possibly damaging	Het
Spmip2	G	A	3: 79,337,299 (GRCm39)	D36N	possibly damaging	Het
Susd4	A	G	1: 182,722,762 (GRCm39)		probably null	Het
Taar7f	G	A	10: 23,925,727 (GRCm39)	R107K	probably benign	Het
Tarm1	T	C	7: 3,544,457 (GRCm39)	T237A	probably benign	Het
Tshr	C	A	12: 91,504,439 (GRCm39)	A459E	probably damaging	Het
Tubgcp5	G	T	7: 55,475,327 (GRCm39)		probably null	Het
Unc13b	T	C	4: 43,174,920 (GRCm39)	V1916A	unknown	Het
Unc45b	A	G	11: 82,810,562 (GRCm39)	D274G	probably damaging	Het
Vmn1r230	T	A	17: 21,067,604 (GRCm39)	Y264*	probably null	Het
Vmn2r109	G	T	17: 20,775,332 (GRCm39)	Q132K		Het
Zbtb20	A	G	16: 43,430,160 (GRCm39)	S151G	possibly damaging	Het
Zbtb22	A	C	17: 34,136,850 (GRCm39)	T332P	probably damaging	Het
Zc3h6	A	G	2: 128,859,281 (GRCm39)	D1104G	probably damaging	Het
Zfp748	A	G	13: 67,690,471 (GRCm39)	V263A	probably benign	Het
Zhx3	A	C	2: 160,623,678 (GRCm39)	V163G	probably benign	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
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
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'- TACACCATGACCAGTTCCCTG -3'
(R):5'- TCTGCAAGCACCCCATGAAG -3'

Sequencing Primer
(F):5'- CTGTACTTCATCACATTTGGTATGG -3'
(R):5'- GGCTTCACATAGATATTGGTAATCC -3'

Posted On

2022-10-06