Mutagenetix > Incidental Mutation

Incidental Mutation 'R7731:Ptch2'

595814

Institutional Source

Beutler Lab

Gene Symbol

Ptch2

Ensembl Gene

ENSMUSG00000028681

Gene Name

patched 2

Synonyms

ptc2

MMRRC Submission

045787-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7731 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116953272-116973298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116965492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 359 (F359Y)

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: F359Y

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000030443
Gene: ENSMUSG00000028681
AA Change: F359Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,470 (GRCm39)	E210G	possibly damaging	Het
Accsl	T	C	2: 93,691,363 (GRCm39)	T372A	probably benign	Het
Adgrf5	T	A	17: 43,761,451 (GRCm39)	S1049T	probably damaging	Het
Agmo	G	A	12: 37,464,939 (GRCm39)	R405K	probably benign	Het
Akap3	A	G	6: 126,842,031 (GRCm39)	T217A	probably benign	Het
Ankfy1	T	A	11: 72,603,107 (GRCm39)	N45K	probably benign	Het
Ankrd11	G	A	8: 123,622,172 (GRCm39)	T560I	probably benign	Het
Aqp1	T	C	6: 55,322,804 (GRCm39)	Y186H	possibly damaging	Het
Arhgef18	G	A	8: 3,434,936 (GRCm39)	V194M	probably damaging	Het
Arnt	T	C	3: 95,391,086 (GRCm39)	V320A	probably benign	Het
B230217C12Rik	T	C	11: 97,732,226 (GRCm39)	L2P	unknown	Het
Bco1	C	A	8: 117,857,807 (GRCm39)	S477R	possibly damaging	Het
Brd4	A	G	17: 32,430,198 (GRCm39)	S703P	possibly damaging	Het
Ceacam3	T	A	7: 16,892,275 (GRCm39)	N339K		Het
Cebpb	A	G	2: 167,531,126 (GRCm39)	D62G	probably damaging	Het
Clca4a	T	C	3: 144,658,546 (GRCm39)	I890V	probably benign	Het
Cyp2d9	A	G	15: 82,339,633 (GRCm39)		probably null	Het
Cyth1	T	C	11: 118,059,879 (GRCm39)	T374A	possibly damaging	Het
Dennd3	A	T	15: 73,434,216 (GRCm39)	H962L	probably damaging	Het
Dhtkd1	T	G	2: 5,928,923 (GRCm39)	L249F	probably benign	Het
Dnah7b	T	A	1: 46,178,905 (GRCm39)	H859Q	probably benign	Het
E2f4	A	G	8: 106,025,265 (GRCm39)	D115G	probably damaging	Het
Eif4a3l1	A	G	6: 136,305,871 (GRCm39)	I111V	probably benign	Het
Exoc3l4	G	C	12: 111,397,182 (GRCm39)	D688H	possibly damaging	Het
Fan1	C	T	7: 64,022,444 (GRCm39)	V270I	probably benign	Het
Fat2	A	T	11: 55,201,532 (GRCm39)	I514N	probably damaging	Het
Fndc1	G	A	17: 7,992,271 (GRCm39)	T475I	unknown	Het
Fstl5	T	A	3: 76,569,069 (GRCm39)	I574N	probably damaging	Het
Fzd4	T	C	7: 89,057,258 (GRCm39)	V435A	possibly damaging	Het
Fzd6	T	C	15: 38,897,327 (GRCm39)	F492S	probably damaging	Het
Gm4924	T	A	10: 82,213,361 (GRCm39)	N386K	unknown	Het
Hbp1	A	T	12: 31,983,367 (GRCm39)	D362E	possibly damaging	Het
Hectd4	A	C	5: 121,445,077 (GRCm39)	M105L	probably benign	Het
Hivep2	C	T	10: 14,025,458 (GRCm39)	P2424L	probably benign	Het
Hspa4	A	T	11: 53,157,791 (GRCm39)		probably null	Het
Igf2bp3	A	G	6: 49,111,665 (GRCm39)	V122A	probably damaging	Het
Ikzf2	A	T	1: 69,578,302 (GRCm39)	N402K	possibly damaging	Het
Ip6k1	T	C	9: 107,921,927 (GRCm39)	F207S	probably damaging	Het
Kbtbd8	C	A	6: 95,095,559 (GRCm39)	N24K	probably benign	Het
Krtap10-4	T	G	10: 77,662,654 (GRCm39)	T75P	unknown	Het
Macf1	C	A	4: 123,338,672 (GRCm39)	S4355I	probably benign	Het
Muc5b	A	T	7: 141,411,042 (GRCm39)		probably null	Het
Myo3a	G	A	2: 22,287,400 (GRCm39)	V179M	probably damaging	Het
Nup210	G	T	6: 91,048,870 (GRCm39)	T462K	possibly damaging	Het
Or11g27	T	A	14: 50,771,141 (GRCm39)	S91T	probably damaging	Het
Or1l4	A	G	2: 37,091,561 (GRCm39)	M103V	probably benign	Het
Or51f5	A	G	7: 102,424,141 (GRCm39)	I137V	probably benign	Het
Or5j1	T	C	2: 86,879,578 (GRCm39)	M1V	probably null	Het
Or8b53	A	G	9: 38,667,542 (GRCm39)	Q186R	possibly damaging	Het
Ostn	G	A	16: 27,165,668 (GRCm39)	R119Q	probably damaging	Het
Pcdhga11	A	T	18: 37,889,564 (GRCm39)	N191Y	probably benign	Het
Pcsk6	A	T	7: 65,683,641 (GRCm39)	Q752L	probably benign	Het
Pfas	T	C	11: 68,890,871 (GRCm39)	T347A	probably damaging	Het
Pkd1	A	T	17: 24,792,872 (GRCm39)	R1520W	probably damaging	Het
Pphln1-ps1	C	T	16: 13,495,623 (GRCm39)	R241C	probably damaging	Het
Prpf8	T	C	11: 75,399,732 (GRCm39)	S2264P	probably damaging	Het
Ptcd1	C	A	5: 145,088,174 (GRCm39)	R612S	probably benign	Het
Ptprr	A	C	10: 116,073,200 (GRCm39)	D474A	probably damaging	Het
Pum1	C	A	4: 130,490,274 (GRCm39)	Q846K	probably benign	Het
Slc22a14	C	T	9: 118,999,677 (GRCm39)	A505T	possibly damaging	Het
Smpdl3a	A	G	10: 57,678,650 (GRCm39)	Y151C	probably damaging	Het
Snrnp200	A	G	2: 127,071,022 (GRCm39)	N1101S	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Sptlc1	A	G	13: 53,487,993 (GRCm39)	V450A	probably benign	Het
Sqle	A	G	15: 59,187,821 (GRCm39)	Y43C	probably benign	Het
Srgap3	T	C	6: 112,743,858 (GRCm39)	H460R	probably benign	Het
Syt15	A	T	14: 33,945,024 (GRCm39)	E190D	possibly damaging	Het
Tbc1d10b	T	C	7: 126,797,993 (GRCm39)	K716R	probably benign	Het
Tbx20	T	C	9: 24,681,993 (GRCm39)	I120M	probably damaging	Het
Tgm1	T	G	14: 55,947,978 (GRCm39)	I274L	probably benign	Het
Tmem156	C	T	5: 65,232,905 (GRCm39)		probably null	Het
Tnk2	A	G	16: 32,488,952 (GRCm39)	D264G	possibly damaging	Het
Tsc22d4	A	G	5: 137,756,956 (GRCm39)	S306G	possibly damaging	Het
Tut1	T	A	19: 8,936,626 (GRCm39)	V150D	probably benign	Het
Uchl5	T	C	1: 143,670,275 (GRCm39)	F143L		Het
Vmn1r23	T	C	6: 57,903,319 (GRCm39)	K153R	probably benign	Het
Zfp236	A	T	18: 82,698,798 (GRCm39)	D94E	probably benign	Het
Zfp759	T	C	13: 67,287,690 (GRCm39)	Y414H	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
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
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'- GGCTAAACAGCTCTGGACAG -3'
(R):5'- GTGCTGACTTCAGAGAACGC -3'

Sequencing Primer
(F):5'- TGAGTGTCCAGGCTCTGACTC -3'
(R):5'- TTCAGAGAACGCGCGCAG -3'

Posted On

2019-11-12