Mutagenetix > Incidental Mutation

Incidental Mutation 'R0499:Ptch2'

47004

Institutional Source

Beutler Lab

Gene Symbol

Ptch2

Ensembl Gene

ENSMUSG00000028681

Gene Name

patched 2

Synonyms

ptc2

MMRRC Submission

038695-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116953272-116973298 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 116968340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 905 (L905*)

Ref Sequence

ENSEMBL: ENSMUSP00000030443 (fasta)

Gene Model

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

AlphaFold

O35595

Predicted Effect

probably null
Transcript: ENSMUST00000030443
AA Change: L905*

SMART Domains

Protein: ENSMUSP00000030443
Gene: ENSMUSG00000028681
AA Change: L905*

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

noncoding transcript
Transcript: ENSMUST00000123226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135133

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156989

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adap2	A	T	11: 80,066,905 (GRCm39)	R276S	probably damaging	Het
Agbl3	A	T	6: 34,816,270 (GRCm39)	M727L	probably benign	Het
Ahnak	T	A	19: 8,977,628 (GRCm39)		probably benign	Het
Ankmy1	G	T	1: 92,813,948 (GRCm39)	D410E	probably damaging	Het
Ankra2	T	C	13: 98,402,962 (GRCm39)	S70P	probably damaging	Het
Aox4	T	C	1: 58,302,556 (GRCm39)		probably null	Het
Arl13b	G	A	16: 62,622,096 (GRCm39)	T399I	probably benign	Het
Atad2	A	T	15: 57,966,636 (GRCm39)	D652E	possibly damaging	Het
Atad2	T	G	15: 57,984,345 (GRCm39)	M328L	probably benign	Het
Ccnb1	T	C	13: 100,916,642 (GRCm39)		probably null	Het
Ccr2	G	C	9: 123,905,976 (GRCm39)	K85N	possibly damaging	Het
Ccr2	A	T	9: 123,906,163 (GRCm39)	T148S	possibly damaging	Het
Cdc20b	T	C	13: 113,192,484 (GRCm39)	V59A	probably benign	Het
Cdin1	C	T	2: 115,473,172 (GRCm39)	R101W	probably damaging	Het
Cdkl3	T	C	11: 51,923,243 (GRCm39)	S507P	possibly damaging	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1g	A	G	8: 94,060,317 (GRCm39)	F101L	probably benign	Het
Cimap1d	T	C	10: 79,476,099 (GRCm39)	D155G	probably damaging	Het
Cntnap3	C	T	13: 65,006,492 (GRCm39)	D107N	probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Col27a1	A	G	4: 63,218,978 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Cstf3	A	G	2: 104,479,950 (GRCm39)	I272M	possibly damaging	Het
Cyp2d40	T	C	15: 82,645,418 (GRCm39)	T150A	probably benign	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Dop1b	A	T	16: 93,567,325 (GRCm39)	T1251S	probably benign	Het
Dtx2	G	A	5: 136,057,957 (GRCm39)	G421R	probably damaging	Het
Epb41l3	T	A	17: 69,554,654 (GRCm39)	D251E	probably benign	Het
Erg	A	C	16: 95,161,842 (GRCm39)	Y305*	probably null	Het
Exosc4	G	A	15: 76,213,766 (GRCm39)	A197T	probably benign	Het
Fam227b	T	A	2: 125,942,829 (GRCm39)	I323L	probably benign	Het
Far1	G	T	7: 113,153,503 (GRCm39)		probably benign	Het
Fmod	A	G	1: 133,968,934 (GRCm39)	I325V	possibly damaging	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm4076	G	T	13: 85,275,345 (GRCm39)		noncoding transcript	Het
Gm5134	A	T	10: 75,828,359 (GRCm39)	Y313F	probably benign	Het
H2-Q6	T	A	17: 35,644,179 (GRCm39)	F54I	probably damaging	Het
Hcrtr2	C	A	9: 76,161,954 (GRCm39)	L145F	probably damaging	Het
Hepacam2	A	G	6: 3,476,121 (GRCm39)	L268P	probably damaging	Het
Herc2	C	A	7: 55,834,117 (GRCm39)	C3107*	probably null	Het
Herc4	T	C	10: 63,099,811 (GRCm39)	V78A	probably damaging	Het
Hyal5	T	C	6: 24,877,920 (GRCm39)	W339R	probably damaging	Het
Igfbp6	T	A	15: 102,056,419 (GRCm39)		probably null	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Il1r2	T	A	1: 40,162,309 (GRCm39)	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097 (GRCm39)	V190L	probably benign	Het
Ipo11	T	C	13: 107,061,595 (GRCm39)	T22A	probably benign	Het
Itgb4	C	A	11: 115,870,521 (GRCm39)	R117S	probably benign	Het
Lcorl	C	G	5: 45,891,711 (GRCm39)	G214A	probably benign	Het
Lgals3bp	T	A	11: 118,289,019 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,791,298 (GRCm39)	L54I	probably damaging	Het
Mcm9	T	C	10: 53,414,250 (GRCm39)	T1015A	probably benign	Het
Mef2d	T	A	3: 88,063,825 (GRCm39)	I84N	probably damaging	Het
Mmrn2	A	G	14: 34,119,913 (GRCm39)	N261S	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Mstn	T	A	1: 53,103,143 (GRCm39)	Y160N	probably damaging	Het
Muc6	T	C	7: 141,226,735 (GRCm39)	T1431A	probably benign	Het
Nek9	A	T	12: 85,348,657 (GRCm39)	M959K	probably benign	Het
Or2ak6	G	A	11: 58,593,069 (GRCm39)	V181I	probably benign	Het
Or4f58	A	T	2: 111,851,777 (GRCm39)	C141S	probably damaging	Het
Or8b47	A	T	9: 38,435,801 (GRCm39)	M258L	probably benign	Het
Otog	G	T	7: 45,923,256 (GRCm39)	G1044W	probably damaging	Het
Pcdh9	G	A	14: 94,123,671 (GRCm39)	T833M	probably damaging	Het
Pdcd10	T	C	3: 75,434,958 (GRCm39)	K111R	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Plekhg1	T	C	10: 3,887,971 (GRCm39)	V355A	probably damaging	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Psd	T	C	19: 46,310,600 (GRCm39)	E483G	probably damaging	Het
Rxfp2	T	A	5: 149,989,880 (GRCm39)	N420K	probably damaging	Het
Scpppq1	C	A	5: 104,222,747 (GRCm39)	G24*	probably null	Het
Sde2	T	A	1: 180,689,992 (GRCm39)	D237E	probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Shc3	C	T	13: 51,634,264 (GRCm39)		probably benign	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Slc23a2	A	G	2: 131,913,937 (GRCm39)	L280P	probably damaging	Het
Smchd1	G	T	17: 71,694,083 (GRCm39)	Q1221K	probably benign	Het
Spmip2	T	A	3: 79,313,093 (GRCm39)	W56R	probably damaging	Het
Spocd1	A	G	4: 129,849,263 (GRCm39)	N694S	possibly damaging	Het
Styxl2	C	A	1: 165,926,670 (GRCm39)	V981L	probably benign	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tmem131	A	T	1: 36,880,754 (GRCm39)	V172D	probably damaging	Het
Trpm3	T	C	19: 22,964,237 (GRCm39)	M1244T	possibly damaging	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Usp17le	T	C	7: 104,417,708 (GRCm39)	N478S	probably benign	Het
Usp36	A	G	11: 118,164,397 (GRCm39)	V205A	probably damaging	Het
Vmn1r25	T	A	6: 57,955,494 (GRCm39)	Q265L	probably damaging	Het
Vwf	A	T	6: 125,615,077 (GRCm39)	H1176L	probably benign	Het
Zfyve28	C	T	5: 34,389,550 (GRCm39)	D217N	possibly damaging	Het
Zranb3	A	C	1: 127,882,817 (GRCm39)		probably null	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
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
R7836:Ptch2	UTSW	4	116,962,224 (GRCm39)	splice site	probably null
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'- CGACAAATATGATACCACCGGGGAG -3'
(R):5'- TCATCATTGCCAGGACCAGCAC -3'

Sequencing Primer
(F):5'- AGAACCTTCGCAGTGAGTC -3'
(R):5'- AGATGCAGACTGCCAGC -3'

Posted On

2013-06-12