Mutagenetix > Incidental Mutation

Incidental Mutation 'R0403:Ptch2'

35676

Institutional Source

Beutler Lab

Gene Symbol

Ptch2

Ensembl Gene

ENSMUSG00000028681

Gene Name

patched 2

Synonyms

ptc2

MMRRC Submission

038608-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0403 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

116953272-116973298 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 116968036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 843 (K843*)

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: K843*

SMART Domains

Protein: ENSMUSP00000030443
Gene: ENSMUSG00000028681
AA Change: K843*

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

0.9711

Coding Region Coverage

1x: 98.0%
3x: 96.8%
10x: 93.2%
20x: 83.7%

Validation Efficiency

97% (110/113)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,864,706 (GRCm39)		probably null	Het
Adgrg3	C	T	8: 95,763,550 (GRCm39)	L284F	probably benign	Het
Alkbh8	T	A	9: 3,385,469 (GRCm39)	V587E	probably damaging	Het
Ap4b1	T	A	3: 103,728,712 (GRCm39)	M590K	probably benign	Het
Ap4b1	T	A	3: 103,726,155 (GRCm39)	C244S	probably damaging	Het
Arhgap15	C	T	2: 43,953,778 (GRCm39)	T168I	probably damaging	Het
Atp8b1	A	G	18: 64,673,381 (GRCm39)	V997A	probably damaging	Het
Atrn	G	A	2: 130,748,779 (GRCm39)	C100Y	probably damaging	Het
Baiap2l2	C	A	15: 79,155,416 (GRCm39)	A151S	probably benign	Het
Baz2b	A	T	2: 59,799,721 (GRCm39)	D199E	possibly damaging	Het
Bmal2	T	A	6: 146,724,153 (GRCm39)	H348Q	probably damaging	Het
Cblb	A	G	16: 51,972,989 (GRCm39)	D440G	probably benign	Het
Cdon	T	C	9: 35,384,796 (GRCm39)	V694A	probably benign	Het
Cep250	A	T	2: 155,834,269 (GRCm39)	R2065W	probably damaging	Het
Ces2b	G	T	8: 105,560,577 (GRCm39)	A131S	probably damaging	Het
Chrna9	A	T	5: 66,125,235 (GRCm39)	T59S	possibly damaging	Het
Cog3	T	A	14: 75,979,767 (GRCm39)		probably benign	Het
Cpa1	G	A	6: 30,641,856 (GRCm39)	V227I	probably benign	Het
Cyp3a25	A	T	5: 145,935,323 (GRCm39)	C98S	probably damaging	Het
D8Ertd738e	C	T	8: 84,976,230 (GRCm39)		probably null	Het
Ddx60	A	G	8: 62,447,575 (GRCm39)		probably benign	Het
Dhx16	T	C	17: 36,193,942 (GRCm39)		probably null	Het
Dnah9	T	A	11: 65,975,615 (GRCm39)	Q1478L	possibly damaging	Het
Dock10	T	C	1: 80,501,787 (GRCm39)	Y1434C	possibly damaging	Het
Enpp3	T	A	10: 24,680,334 (GRCm39)	D325V	probably damaging	Het
Entpd6	C	A	2: 150,602,090 (GRCm39)	T194K	possibly damaging	Het
Fat2	A	T	11: 55,161,175 (GRCm39)	V3185E	probably benign	Het
Flrt1	A	G	19: 7,073,284 (GRCm39)	L421P	probably benign	Het
Fmn2	A	T	1: 174,521,844 (GRCm39)	Q1292L	probably damaging	Het
Fndc1	T	C	17: 7,972,555 (GRCm39)	D1459G	probably damaging	Het
Fndc1	T	C	17: 7,994,420 (GRCm39)		probably null	Het
Fzr1	A	G	10: 81,205,202 (GRCm39)	S265P	possibly damaging	Het
Gpr142	G	A	11: 114,696,855 (GRCm39)	V134M	probably damaging	Het
Grid2ip	G	T	5: 143,343,375 (GRCm39)	V24L	possibly damaging	Het
Herc2	G	A	7: 55,809,165 (GRCm39)	R2555H	probably damaging	Het
Hpdl	A	T	4: 116,677,676 (GRCm39)	Y262N	possibly damaging	Het
Htr3a	A	G	9: 48,819,959 (GRCm39)	V57A	probably damaging	Het
Igfbp7	T	C	5: 77,503,438 (GRCm39)	I186V	probably benign	Het
Itga2b	C	T	11: 102,358,152 (GRCm39)		probably null	Het
Itgae	A	C	11: 73,014,009 (GRCm39)	D736A	possibly damaging	Het
Itpkc	T	A	7: 26,907,770 (GRCm39)	M645L	probably benign	Het
Jchain	T	C	5: 88,669,237 (GRCm39)	R139G	probably benign	Het
Kif13a	A	G	13: 46,944,877 (GRCm39)	V908A	probably damaging	Het
Kif1b	T	A	4: 149,266,424 (GRCm39)	K389*	probably null	Het
Klhl12	T	C	1: 134,413,594 (GRCm39)	Y360H	possibly damaging	Het
Knop1	G	A	7: 118,452,276 (GRCm39)	R148W	probably damaging	Het
Lpar1	T	A	4: 58,487,191 (GRCm39)	N27Y	probably damaging	Het
Lpar2	T	A	8: 70,276,802 (GRCm39)	V197D	probably damaging	Het
Lrrc74a	A	G	12: 86,787,753 (GRCm39)	N128S	probably damaging	Het
Lum	G	T	10: 97,407,905 (GRCm39)	V337F	probably benign	Het
Mag	T	C	7: 30,606,405 (GRCm39)	D344G	probably damaging	Het
Maip1	G	A	1: 57,446,355 (GRCm39)	A142T	probably benign	Het
Mlh3	A	G	12: 85,315,742 (GRCm39)	V148A	possibly damaging	Het
Nav3	A	G	10: 109,602,964 (GRCm39)	V1195A	probably damaging	Het
Ncor2	A	G	5: 125,110,401 (GRCm39)	S868P	possibly damaging	Het
Nek1	A	G	8: 61,559,889 (GRCm39)	E907G	probably damaging	Het
Nfam1	G	A	15: 82,900,580 (GRCm39)	T134I	probably benign	Het
Nr0b2	T	C	4: 133,281,070 (GRCm39)	V112A	probably damaging	Het
Nrp1	A	G	8: 129,184,450 (GRCm39)	N365S	probably damaging	Het
Nrsn2	T	C	2: 152,211,710 (GRCm39)	Y107C	probably damaging	Het
Ntng1	G	A	3: 109,841,927 (GRCm39)	A282V	probably damaging	Het
Nxf1	T	C	19: 8,742,392 (GRCm39)	I337T	probably damaging	Het
Obscn	C	T	11: 58,967,366 (GRCm39)	G479D	probably damaging	Het
Oprd1	T	A	4: 131,841,079 (GRCm39)	D293V	probably benign	Het
Or13a17	T	C	7: 140,271,222 (GRCm39)	S135P	possibly damaging	Het
P3h2	T	G	16: 25,788,700 (GRCm39)	N586H	possibly damaging	Het
Pcid2	T	C	8: 13,135,367 (GRCm39)	Y214C	probably damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 110,350,295 (GRCm39)	S380N	probably benign	Het
Ppic	C	A	18: 53,544,143 (GRCm39)	G81W	probably damaging	Het
Ppp2r1a	C	A	17: 21,177,303 (GRCm39)	P246T	probably damaging	Het
Ppp4r4	T	G	12: 103,550,361 (GRCm39)	S46A	probably benign	Het
Pramel31	A	G	4: 144,089,216 (GRCm39)	N178S	probably benign	Het
Prkce	A	G	17: 86,476,081 (GRCm39)	T21A	probably damaging	Het
Prkg2	T	C	5: 99,142,504 (GRCm39)	E210G	possibly damaging	Het
Prss35	A	G	9: 86,638,090 (GRCm39)	M287V	probably damaging	Het
Psd	G	A	19: 46,309,411 (GRCm39)		probably benign	Het
Rab44	C	A	17: 29,364,235 (GRCm39)	T603K	probably damaging	Het
Rasal3	T	A	17: 32,611,764 (GRCm39)		probably null	Het
Rbbp6	A	G	7: 122,591,519 (GRCm39)	T526A	probably damaging	Het
Ros1	A	T	10: 52,019,534 (GRCm39)		probably benign	Het
Sec24b	T	A	3: 129,783,325 (GRCm39)	L1104F	possibly damaging	Het
Sec24b	A	G	3: 129,793,183 (GRCm39)	S685P	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Setmar	A	T	6: 108,052,923 (GRCm39)	H139L	probably benign	Het
Slc28a2b	T	C	2: 122,352,335 (GRCm39)	L364S	probably damaging	Het
Slc4a7	T	C	14: 14,766,808 (GRCm38)	V710A	probably benign	Het
Smarcc1	T	A	9: 110,066,876 (GRCm39)		probably null	Het
Smchd1	G	A	17: 71,701,897 (GRCm39)	L1032F	probably damaging	Het
Speg	T	C	1: 75,407,428 (GRCm39)		probably benign	Het
Tasor2	A	T	13: 3,632,052 (GRCm39)	Y816*	probably null	Het
Tcea1	C	G	1: 4,959,726 (GRCm39)	R134G	probably benign	Het
Tchhl1	C	T	3: 93,378,336 (GRCm39)	Q347*	probably null	Het
Tecrl	A	T	5: 83,502,605 (GRCm39)		probably benign	Het
Tepsin	T	C	11: 119,984,508 (GRCm39)		probably benign	Het
Tmem40	G	A	6: 115,710,946 (GRCm39)		probably benign	Het
Tpr	G	A	1: 150,283,165 (GRCm39)		probably benign	Het
Ttll12	A	T	15: 83,464,859 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,739,952 (GRCm39)	D3529V	probably benign	Het
Usp34	T	A	11: 23,283,838 (GRCm39)	H177Q	possibly damaging	Het
Vsig10	T	A	5: 117,476,526 (GRCm39)	S327T	probably benign	Het
Zbtb4	T	A	11: 69,668,465 (GRCm39)	M396K	probably damaging	Het
Zfp352	C	T	4: 90,113,246 (GRCm39)	T462I	possibly damaging	Het
Zfp385b	T	C	2: 77,307,189 (GRCm39)	M145V	probably damaging	Het
Zfp780b	C	A	7: 27,671,114 (GRCm39)	V65F	possibly damaging	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
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
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'- TACCGCAACGGCTCAGAAGATG -3'
(R):5'- GCCCCTTCGATGGCTTCTACAAAG -3'

Sequencing Primer
(F):5'- GGTAAAAGGGGAGCTGACTT -3'
(R):5'- GATGGCTTCTACAAAGTCTGC -3'

Posted On

2013-05-09