Mutagenetix > Incidental Mutation

Incidental Mutation 'R7836:Ptch2'

628545

Institutional Source

Beutler Lab

Gene Symbol

Ptch2

Ensembl Gene

ENSMUSG00000028681

Gene Name

patched 2

Synonyms

ptc2

MMRRC Submission

045890-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116953272-116973298 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 116962224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030443] [ENSMUST00000144620]

AlphaFold

O35595

Predicted Effect

probably null
Transcript: ENSMUST00000030443

SMART Domains

Protein: ENSMUSP00000030443
Gene: ENSMUSG00000028681

Domain	Start	End	E-Value	Type
low complexity region	58	77	N/A	INTRINSIC
low complexity region	251	262	N/A	INTRINSIC
Pfam:Patched	338	831	1.6e-42	PFAM
Pfam:Sterol-sensing	418	570	9.5e-49	PFAM
Pfam:Patched	901	1116	2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137209

SMART Domains

Protein: ENSMUSP00000114461
Gene: ENSMUSG00000028681

Domain	Start	End	E-Value	Type
low complexity region	75	86	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144620

SMART Domains

Protein: ENSMUSP00000122548
Gene: ENSMUSG00000028681

Domain	Start	End	E-Value	Type
low complexity region	58	77	N/A	INTRINSIC
low complexity region	251	262	N/A	INTRINSIC

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (76/77)

MGI Phenotype

FUNCTION: This gene encodes a member of the patched family of transmembrane receptor proteins. The encoded protein may be a functional receptor for the morphogen sonic hedgehog (Shh) and is reportedly involved in limb and skin development. Homozygous mutant mice for this gene exhibit hair loss and epidermal hyperplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Male mice homozygous for a targeted gene disruption display anemia, abnormal red blood cells, enlarged spleens, extramedullary hematopoiesis, and an increased percentage of neutrophils. Most male mice homozygous for another allele display alopecia and skin lesions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	G	5: 8,984,203 (GRCm39)	S644R	probably benign	Het
Adra2a	A	G	19: 54,034,659 (GRCm39)	E5G	probably benign	Het
Ankrd1	A	T	19: 36,092,922 (GRCm39)	V201D	possibly damaging	Het
Ano9	A	T	7: 140,683,114 (GRCm39)	V598E	probably damaging	Het
Apob	T	A	12: 8,051,885 (GRCm39)	M1150K	possibly damaging	Het
BC005624	A	T	2: 30,864,032 (GRCm39)	I187N	probably damaging	Het
Bltp3b	C	T	10: 89,651,968 (GRCm39)	T1381I	probably benign	Het
Ccl9	T	C	11: 83,467,257 (GRCm39)	E31G	probably benign	Het
Cnnm4	T	A	1: 36,511,019 (GRCm39)	D82E	probably benign	Het
Coq10b	T	C	1: 55,092,013 (GRCm39)		probably benign	Het
Cplane1	T	G	15: 8,233,241 (GRCm39)	F1189V	probably damaging	Het
Cyb561	T	C	11: 105,830,935 (GRCm39)	N50S	probably benign	Het
Dctn4	G	T	18: 60,679,348 (GRCm39)	A223S	probably benign	Het
Dysf	A	G	6: 84,114,380 (GRCm39)	Y1223C	probably damaging	Het
Eed	C	T	7: 89,630,022 (GRCm39)		probably benign	Het
Eef1g	T	A	19: 8,954,738 (GRCm39)	V305E	probably benign	Het
Eif4ebp2	C	A	10: 61,270,772 (GRCm39)	A86S	probably benign	Het
Ermp1	T	C	19: 29,609,788 (GRCm39)		probably null	Het
Hid1	T	C	11: 115,249,821 (GRCm39)	Y198C	probably damaging	Het
Hoxd1	C	A	2: 74,593,816 (GRCm39)	A124E	probably benign	Het
Hyal5	G	A	6: 24,891,347 (GRCm39)	C387Y	probably damaging	Het
Il11	A	G	7: 4,778,999 (GRCm39)	S103P	probably damaging	Het
Lgalsl2	A	T	7: 5,362,507 (GRCm39)	K46M	probably damaging	Het
Lmtk3	A	C	7: 45,436,327 (GRCm39)	I128L	possibly damaging	Het
Lrrc4b	G	T	7: 44,094,316 (GRCm39)		probably benign	Het
Magel2	T	A	7: 62,028,116 (GRCm39)	I340N	possibly damaging	Het
Mfsd14a	A	T	3: 116,442,200 (GRCm39)	F71I	possibly damaging	Het
Mgarp	A	G	3: 51,296,487 (GRCm39)	S172P	probably benign	Het
Mug1	T	C	6: 121,847,611 (GRCm39)		probably null	Het
Naa15	G	T	3: 51,370,688 (GRCm39)	E651*	probably null	Het
Ndfip2	T	C	14: 105,529,675 (GRCm39)	V168A	probably benign	Het
Neb	C	A	2: 52,113,373 (GRCm39)		probably null	Het
Nfil3	A	G	13: 53,121,968 (GRCm39)	V312A	possibly damaging	Het
Nrap	T	C	19: 56,338,729 (GRCm39)	I953V	probably benign	Het
Ntrk1	T	A	3: 87,687,041 (GRCm39)	K706*	probably null	Het
Nuf2	A	T	1: 169,352,898 (GRCm39)	F36I	probably benign	Het
Or51h7	T	A	7: 102,591,125 (GRCm39)	T220S	possibly damaging	Het
Or5aq7	T	C	2: 86,937,861 (GRCm39)	Y290C	probably damaging	Het
Pcdh8	T	G	14: 80,006,101 (GRCm39)	T821P	possibly damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ptdss1	A	G	13: 67,081,719 (GRCm39)	I50V	probably benign	Het
Pth2r	G	T	1: 65,390,722 (GRCm39)	W292L	probably damaging	Het
Ptprd	G	A	4: 75,900,881 (GRCm39)	T825M	probably damaging	Het
Ptprk	T	C	10: 28,449,385 (GRCm39)	Y987H	probably damaging	Het
Qser1	T	C	2: 104,606,579 (GRCm39)	E1470G	probably damaging	Het
Rab11fip3	T	C	17: 26,287,232 (GRCm39)	E307G	possibly damaging	Het
Rims2	A	G	15: 39,544,475 (GRCm39)	Y1484C	probably damaging	Het
Rock1	A	T	18: 10,097,651 (GRCm39)		probably null	Het
Slc15a1	T	A	14: 121,718,145 (GRCm39)	K245*	probably null	Het
Snx11	T	A	11: 96,660,032 (GRCm39)	E219V	possibly damaging	Het
Sox21	C	A	14: 118,472,729 (GRCm39)	E107*	probably null	Het
Spink5	T	A	18: 44,132,888 (GRCm39)	H501Q	probably benign	Het
Stard5	C	T	7: 83,285,984 (GRCm39)	T103M	probably damaging	Het
Stfa2l1	A	T	16: 35,977,203 (GRCm39)		probably benign	Het
Sult1c2	A	C	17: 54,271,076 (GRCm39)	V185G	probably damaging	Het
Svs5	A	G	2: 164,079,500 (GRCm39)	S136P	possibly damaging	Het
Sytl3	T	A	17: 6,982,774 (GRCm39)		probably null	Het
Tc2n	C	T	12: 101,619,112 (GRCm39)	V349I	possibly damaging	Het
Tln1	A	G	4: 43,554,309 (GRCm39)	V271A	probably benign	Het
Tmem260	T	A	14: 48,746,519 (GRCm39)	S446R	probably benign	Het
Trim30a	T	C	7: 104,084,802 (GRCm39)	D136G	probably benign	Het
Ulk4	A	T	9: 120,873,885 (GRCm39)	I1182N	possibly damaging	Het
Unc50	T	G	1: 37,476,377 (GRCm39)	I179S	possibly damaging	Het
Upb1	T	A	10: 75,248,667 (GRCm39)	Y57*	probably null	Het
Usp34	C	T	11: 23,396,614 (GRCm39)	T2349I		Het
Vmn1r71	A	G	7: 10,482,277 (GRCm39)	V137A	possibly damaging	Het
Vmn1r85	T	C	7: 12,818,698 (GRCm39)	I149V	probably benign	Het
Vmn2r118	A	G	17: 55,900,242 (GRCm39)	L554P	probably damaging	Het
Wdr4	C	G	17: 31,718,782 (GRCm39)		probably null	Het
Zbbx	A	T	3: 74,985,781 (GRCm39)	S424T	possibly damaging	Het
Zfp207	C	G	11: 80,282,726 (GRCm39)	P246A	probably damaging	Het
Zfp414	T	A	17: 33,848,962 (GRCm39)	Y65*	probably null	Het
Zfp600	T	A	4: 146,133,523 (GRCm39)	N730K	probably benign	Het
Zfp827	T	C	8: 79,912,979 (GRCm39)	L1073P	probably damaging	Het
Zfp986	A	G	4: 145,625,691 (GRCm39)	K117R	possibly damaging	Het
Zgrf1	T	A	3: 127,357,080 (GRCm39)	Y769N	probably damaging	Het
Zup1	A	T	10: 33,795,315 (GRCm39)	I547N	unknown	Het

Other mutations in Ptch2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01480:Ptch2	APN	4	116,971,279 (GRCm39)	missense	probably damaging	1.00
IGL01684:Ptch2	APN	4	116,961,984 (GRCm39)	missense	probably damaging	1.00
IGL01967:Ptch2	APN	4	116,971,430 (GRCm39)	splice site	probably benign
IGL02449:Ptch2	APN	4	116,965,380 (GRCm39)	missense	possibly damaging	0.79
IGL02488:Ptch2	APN	4	116,967,593 (GRCm39)	missense	probably damaging	0.99
IGL02935:Ptch2	APN	4	116,971,967 (GRCm39)	missense	probably damaging	1.00
R0103:Ptch2	UTSW	4	116,966,622 (GRCm39)	splice site	probably benign
R0326:Ptch2	UTSW	4	116,966,081 (GRCm39)	missense	probably damaging	1.00
R0403:Ptch2	UTSW	4	116,968,036 (GRCm39)	nonsense	probably null
R0499:Ptch2	UTSW	4	116,968,340 (GRCm39)	nonsense	probably null
R0550:Ptch2	UTSW	4	116,953,630 (GRCm39)	splice site	probably benign
R0565:Ptch2	UTSW	4	116,963,340 (GRCm39)	splice site	probably benign
R1469:Ptch2	UTSW	4	116,965,662 (GRCm39)	missense	probably benign
R1469:Ptch2	UTSW	4	116,965,662 (GRCm39)	missense	probably benign
R1484:Ptch2	UTSW	4	116,968,046 (GRCm39)	missense	probably damaging	0.97
R1920:Ptch2	UTSW	4	116,965,858 (GRCm39)	missense	probably benign	0.09
R4080:Ptch2	UTSW	4	116,968,403 (GRCm39)	missense	probably damaging	1.00
R4611:Ptch2	UTSW	4	116,967,575 (GRCm39)	missense	probably benign	0.24
R5117:Ptch2	UTSW	4	116,963,146 (GRCm39)	missense	probably damaging	1.00
R5240:Ptch2	UTSW	4	116,963,335 (GRCm39)	splice site	probably benign
R5936:Ptch2	UTSW	4	116,965,491 (GRCm39)	missense	probably benign	0.39
R5987:Ptch2	UTSW	4	116,967,254 (GRCm39)	missense	probably benign	0.13
R6155:Ptch2	UTSW	4	116,954,105 (GRCm39)	missense	probably damaging	1.00
R7158:Ptch2	UTSW	4	116,971,981 (GRCm39)	missense	possibly damaging	0.76
R7196:Ptch2	UTSW	4	116,971,946 (GRCm39)	missense	probably benign	0.23
R7346:Ptch2	UTSW	4	116,971,849 (GRCm39)	missense	probably benign	0.40
R7380:Ptch2	UTSW	4	116,971,843 (GRCm39)	missense	possibly damaging	0.92
R7547:Ptch2	UTSW	4	116,967,161 (GRCm39)	missense	probably damaging	1.00
R7600:Ptch2	UTSW	4	116,953,422 (GRCm39)	start gained	probably benign
R7731:Ptch2	UTSW	4	116,965,492 (GRCm39)	missense	probably benign	0.09
R7874:Ptch2	UTSW	4	116,963,161 (GRCm39)	missense	possibly damaging	0.83
R7881:Ptch2	UTSW	4	116,967,585 (GRCm39)	missense	probably benign
R7942:Ptch2	UTSW	4	116,963,198 (GRCm39)	missense	probably benign	0.01
R8426:Ptch2	UTSW	4	116,965,369 (GRCm39)	missense	possibly damaging	0.84
R8715:Ptch2	UTSW	4	116,968,719 (GRCm39)	missense	probably damaging	0.98
R8759:Ptch2	UTSW	4	116,967,630 (GRCm39)	missense	probably damaging	0.99
R9082:Ptch2	UTSW	4	116,962,297 (GRCm39)	critical splice donor site	probably null
R9276:Ptch2	UTSW	4	116,967,505 (GRCm39)	missense	probably damaging	0.97
R9336:Ptch2	UTSW	4	116,966,776 (GRCm39)	missense	possibly damaging	0.89
R9336:Ptch2	UTSW	4	116,954,197 (GRCm39)	missense	probably damaging	1.00
R9368:Ptch2	UTSW	4	116,961,969 (GRCm39)	missense	probably damaging	0.98
X0019:Ptch2	UTSW	4	116,967,064 (GRCm39)	missense	possibly damaging	0.64
X0024:Ptch2	UTSW	4	116,967,064 (GRCm39)	missense	possibly damaging	0.64
X0025:Ptch2	UTSW	4	116,954,183 (GRCm39)	missense	probably damaging	1.00
X0035:Ptch2	UTSW	4	116,967,064 (GRCm39)	missense	possibly damaging	0.64
X0038:Ptch2	UTSW	4	116,967,064 (GRCm39)	missense	possibly damaging	0.64
X0039:Ptch2	UTSW	4	116,967,064 (GRCm39)	missense	possibly damaging	0.64
X0040:Ptch2	UTSW	4	116,967,064 (GRCm39)	missense	possibly damaging	0.64
X0052:Ptch2	UTSW	4	116,967,064 (GRCm39)	missense	possibly damaging	0.64
X0053:Ptch2	UTSW	4	116,967,064 (GRCm39)	missense	possibly damaging	0.64
X0054:Ptch2	UTSW	4	116,967,064 (GRCm39)	missense	possibly damaging	0.64
X0061:Ptch2	UTSW	4	116,967,064 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- CACTTGACTTGCACCTCCAG -3'
(R):5'- TCACACAGGGAAACAGCTTCTC -3'

Sequencing Primer
(F):5'- TTGCACCTCCAGGCGGC -3'
(R):5'- GGGAAACAGCTTCTCAATCATCTG -3'

Posted On

2020-04-28