Mutagenetix > Incidental Mutation

Incidental Mutation 'R4611:Ptch2'

344697

Institutional Source

Beutler Lab

Gene Symbol

Ptch2

Ensembl Gene

ENSMUSG00000028681

Gene Name

patched 2

Synonyms

ptc2

MMRRC Submission

041822-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116953272-116973298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116967575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 748 (D748N)

Ref Sequence

ENSEMBL: ENSMUSP00000030443 (fasta)

Gene Model

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

AlphaFold

O35595

Predicted Effect

probably benign
Transcript: ENSMUST00000030443
AA Change: D748N

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030443
Gene: ENSMUSG00000028681
AA Change: D748N

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,885,259 (GRCm39)	R200C	probably benign	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Aoc1l1	A	T	6: 48,952,090 (GRCm39)	Q5L	probably benign	Het
Apc	T	C	18: 34,451,618 (GRCm39)	L2804P	probably damaging	Het
Apob	C	A	12: 8,061,331 (GRCm39)	A3271E	probably damaging	Het
Asl	G	T	5: 130,047,157 (GRCm39)	A147E	probably damaging	Het
Atp1a1	A	G	3: 101,494,259 (GRCm39)	V447A	probably benign	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Bcl11b	T	C	12: 107,882,789 (GRCm39)	K509E	probably damaging	Het
Btnl1	T	C	17: 34,598,699 (GRCm39)	I105T	probably damaging	Het
Btnl10	A	G	11: 58,811,183 (GRCm39)	T169A	probably damaging	Het
C8b	T	C	4: 104,647,841 (GRCm39)	I278T	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd8b1	T	C	6: 71,309,459 (GRCm39)	V181A	probably benign	Het
Cdan1	A	T	2: 120,561,201 (GRCm39)	V189D	probably damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cfap52	T	C	11: 67,817,247 (GRCm39)	N549D	probably damaging	Het
Cmklr1	C	T	5: 113,752,930 (GRCm39)	V24M	probably benign	Het
Cntnap4	G	T	8: 113,500,371 (GRCm39)		probably null	Het
Col27a1	G	A	4: 63,211,743 (GRCm39)	G91R	probably damaging	Het
Col5a3	A	G	9: 20,726,192 (GRCm39)		probably benign	Het
Dcc	C	T	18: 71,682,069 (GRCm39)		probably null	Het
Deaf1	T	A	7: 140,890,884 (GRCm39)	T433S	possibly damaging	Het
Dnah8	T	A	17: 30,903,211 (GRCm39)	L950H	probably damaging	Het
Dnajc7	A	T	11: 100,481,803 (GRCm39)	Y228*	probably null	Het
Eno1b	T	C	18: 48,180,770 (GRCm39)	V316A	probably damaging	Het
Exoc4	T	C	6: 33,415,340 (GRCm39)	M404T	possibly damaging	Het
Fignl1	A	T	11: 11,751,268 (GRCm39)	C596S	probably benign	Het
Fn1	A	C	1: 71,663,337 (GRCm39)	Y1050*	probably null	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gba2	T	A	4: 43,568,092 (GRCm39)	S732C	probably damaging	Het
Gcnt4	C	A	13: 97,082,990 (GRCm39)	S95R	probably benign	Het
Gpr37	A	G	6: 25,669,623 (GRCm39)	V407A	probably benign	Het
Gria2	A	T	3: 80,599,799 (GRCm39)	M695K	probably damaging	Het
Hoxa9	T	C	6: 52,202,690 (GRCm39)	K132R	probably damaging	Het
Ifi213	T	A	1: 173,417,480 (GRCm39)	T311S	possibly damaging	Het
Itgb2	T	A	10: 77,385,884 (GRCm39)	N282K	probably damaging	Het
Kcnh8	A	T	17: 52,909,864 (GRCm39)	Q11L	probably benign	Het
Klk14	T	C	7: 43,343,781 (GRCm39)	C163R	probably damaging	Het
Klk1b3	T	A	7: 43,850,689 (GRCm39)	W74R	possibly damaging	Het
Krtap13-1	G	T	16: 88,526,142 (GRCm39)	C122F	possibly damaging	Het
Luzp2	T	C	7: 54,713,104 (GRCm39)		probably null	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,570,576 (GRCm39)	V1211E	probably benign	Het
Myb	T	A	10: 21,021,223 (GRCm39)	D402V	probably damaging	Het
Ncor2	G	A	5: 125,107,923 (GRCm39)	T1593I	probably damaging	Het
Ndst3	A	G	3: 123,465,198 (GRCm39)	I258T	probably benign	Het
Npy6r	C	A	18: 44,409,468 (GRCm39)	H296Q	probably damaging	Het
Olfml2b	T	A	1: 170,472,516 (GRCm39)	L9H	probably damaging	Het
Or10a3n	A	G	7: 108,493,324 (GRCm39)	C97R	probably damaging	Het
Or1a1b	A	T	11: 74,097,361 (GRCm39)	V227D	possibly damaging	Het
Or2w2	A	T	13: 21,757,744 (GRCm39)	V294D	probably damaging	Het
Or4k15	C	A	14: 50,364,530 (GRCm39)	N165K	probably benign	Het
Or5b119	C	T	19: 13,457,376 (GRCm39)	C62Y	probably damaging	Het
Or5b94	T	A	19: 12,652,318 (GRCm39)	Y250N	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Or8b8	T	A	9: 37,809,622 (GRCm39)	S307R	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Parg	G	A	14: 31,996,821 (GRCm39)	R304Q	probably damaging	Het
Pdf	T	G	8: 107,775,167 (GRCm39)	S22R	probably benign	Het
Phlpp2	A	T	8: 110,603,515 (GRCm39)	R60S	possibly damaging	Het
Piwil2	C	T	14: 70,639,646 (GRCm39)	E401K	probably benign	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Polr3a	T	C	14: 24,502,576 (GRCm39)		probably null	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Rai14	A	C	15: 10,592,224 (GRCm39)	Y224D	probably damaging	Het
Rft1	A	G	14: 30,411,747 (GRCm39)	I432V	probably damaging	Het
Rictor	C	T	15: 6,816,625 (GRCm39)	A1299V	possibly damaging	Het
Sall2	A	G	14: 52,551,210 (GRCm39)	C662R	probably damaging	Het
Scn4b	A	G	9: 45,061,737 (GRCm39)	N208D	probably damaging	Het
Sdhb	G	A	4: 140,700,226 (GRCm39)	G109R	probably damaging	Het
Sec16a	A	G	2: 26,331,817 (GRCm39)	V66A	probably benign	Het
Sema4g	A	G	19: 44,990,051 (GRCm39)	Y710C	probably damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Shc4	T	A	2: 125,497,602 (GRCm39)	D369V	probably benign	Het
Siglech	T	C	7: 55,421,441 (GRCm39)	L285P	probably damaging	Het
Skint6	A	G	4: 112,931,273 (GRCm39)	M506T	probably benign	Het
Slco1a6	C	A	6: 142,047,378 (GRCm39)	C404F	probably benign	Het
Slfn14	T	A	11: 83,174,140 (GRCm39)	K284*	probably null	Het
Sox14	A	G	9: 99,757,715 (GRCm39)	I8T	probably damaging	Het
Srpk3	A	G	X: 72,818,547 (GRCm39)	H79R	possibly damaging	Het
Tdpoz3	A	T	3: 93,734,330 (GRCm39)	H335L	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tnik	T	C	3: 28,596,249 (GRCm39)		probably null	Het
Tnpo2	T	C	8: 85,780,432 (GRCm39)	S720P	probably benign	Het
Tpst1	A	G	5: 130,130,547 (GRCm39)	K6E	probably damaging	Het
Trank1	T	A	9: 111,191,329 (GRCm39)	I446N	probably damaging	Het
Trmt44	A	T	5: 35,732,351 (GRCm39)	D13E	probably benign	Het
Ubr4	T	A	4: 139,126,890 (GRCm39)	V471E	possibly damaging	Het
Ubtd1	A	G	19: 42,022,030 (GRCm39)	T101A	probably benign	Het
Ugt3a1	A	T	15: 9,306,486 (GRCm39)	K212*	probably null	Het
Zbtb7c	C	T	18: 76,269,918 (GRCm39)	A2V	possibly damaging	Het
Zfp423	C	T	8: 88,414,709 (GRCm39)	G1182D	possibly damaging	Het
Zfp618	G	A	4: 63,051,216 (GRCm39)	V666M	probably damaging	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo
Zscan20	T	C	4: 128,481,899 (GRCm39)	T588A	probably benign	Het
Zscan25	G	A	5: 145,227,926 (GRCm39)	R530H	probably 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
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
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'- ATTTCTCACAGGCCCTGGTG -3'
(R):5'- AATGCAGCCTGGATACCTGG -3'

Sequencing Primer
(F):5'- ACAGGCCCTGGTGTTGCTG -3'
(R):5'- TTCTAAACACGGCGCCCTG -3'

Posted On

2015-09-25