Mutagenetix > Incidental Mutation

Incidental Mutation 'R1701:Ptprk'

189734

Institutional Source

Beutler Lab

Gene Symbol

Ptprk

Ensembl Gene

ENSMUSG00000019889

Gene Name

protein tyrosine phosphatase receptor type K

Synonyms

RPTPkappa, PTPk

MMRRC Submission

039734-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1701 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27950816-28473393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28342054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 487 (D487G)

Ref Sequence

ENSEMBL: ENSMUSP00000151866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166468] [ENSMUST00000218276] [ENSMUST00000218359]

AlphaFold

P35822

Predicted Effect

probably damaging
Transcript: ENSMUST00000166468
AA Change: D487G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126279
Gene: ENSMUSG00000019889
AA Change: D487G

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
MAM	30	193	1.61e-73	SMART
IG	200	288	2.16e-8	SMART
FN3	290	373	1.48e-4	SMART
FN3	389	475	4.24e1	SMART
FN3	491	579	3.32e-7	SMART
transmembrane domain	753	774	N/A	INTRINSIC
PTPc	898	1161	3.56e-132	SMART
PTPc	1190	1455	2.68e-86	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000218276
AA Change: D487G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218359
AA Change: D487G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219478

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,190,142 (GRCm39)	L53P	probably damaging	Het
Acadsb	T	A	7: 131,026,213 (GRCm39)	F19I	probably benign	Het
Aldh3a2	C	T	11: 61,147,598 (GRCm39)	G303S	probably damaging	Het
Anks1b	T	C	10: 89,885,816 (GRCm39)	Y171H	probably damaging	Het
Anxa7	A	T	14: 20,510,229 (GRCm39)	I385N	probably damaging	Het
Astn1	A	T	1: 158,331,877 (GRCm39)	T324S	possibly damaging	Het
Ccdc88a	T	C	11: 29,427,427 (GRCm39)	V235A	possibly damaging	Het
Crhr2	T	C	6: 55,076,255 (GRCm39)	K258R	probably damaging	Het
Ctnnd1	T	C	2: 84,439,335 (GRCm39)	E786G	probably damaging	Het
Ctnnd2	G	A	15: 30,922,127 (GRCm39)	D918N	probably damaging	Het
Dnah9	A	G	11: 65,802,750 (GRCm39)	S200P	probably damaging	Het
Dot1l	T	C	10: 80,626,576 (GRCm39)	S1266P	possibly damaging	Het
Efemp1	A	G	11: 28,871,750 (GRCm39)	T422A	possibly damaging	Het
Fam135b	T	C	15: 71,331,578 (GRCm39)	H1137R	probably damaging	Het
Flot2	C	T	11: 77,940,373 (GRCm39)	S40L	possibly damaging	Het
Fras1	G	A	5: 96,748,643 (GRCm39)	S706N	probably benign	Het
Gbf1	T	C	19: 46,250,114 (GRCm39)	L357P	probably damaging	Het
Gpatch2l	A	G	12: 86,335,726 (GRCm39)	S476G	probably benign	Het
Hbb-bh2	T	C	7: 103,489,450 (GRCm39)	T34A	probably benign	Het
Ints8	A	G	4: 11,231,656 (GRCm39)	L443P	probably damaging	Het
Intu	T	A	3: 40,618,694 (GRCm39)	D233E	probably damaging	Het
Itprid2	A	G	2: 79,466,394 (GRCm39)	K75E	probably damaging	Het
Kctd1	T	A	18: 15,102,617 (GRCm39)	I259L	possibly damaging	Het
Lama5	A	G	2: 179,863,162 (GRCm39)	C108R	probably damaging	Het
Lgals3bp	T	C	11: 118,284,781 (GRCm39)	Y266C	probably damaging	Het
Lrig2	T	C	3: 104,401,993 (GRCm39)	I111V	probably benign	Het
Mtcl2	T	C	2: 156,872,539 (GRCm39)	N936S	probably damaging	Het
Myh8	G	T	11: 67,170,964 (GRCm39)	C125F	probably damaging	Het
Or2d3c	C	A	7: 106,526,129 (GRCm39)	C179F	probably damaging	Het
Or2h2	C	T	17: 37,396,623 (GRCm39)	V145M	probably benign	Het
Or51a10	T	C	7: 103,699,402 (GRCm39)	E53G	possibly damaging	Het
Or5ac21	T	C	16: 59,123,651 (GRCm39)	I46T	probably benign	Het
Or5p76	T	G	7: 108,122,731 (GRCm39)	Q142P	probably benign	Het
Or5w16	T	A	2: 87,576,894 (GRCm39)	M118K	probably damaging	Het
Or6c202	T	C	10: 128,995,974 (GRCm39)	Q293R	probably damaging	Het
Or8g4	A	T	9: 39,662,365 (GRCm39)	I228F	probably damaging	Het
Pate8	A	G	9: 36,493,114 (GRCm39)		probably benign	Het
Phc2	C	T	4: 128,645,400 (GRCm39)	P836S	probably damaging	Het
Pla2g7	T	C	17: 43,911,415 (GRCm39)	F189S	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rad54l2	A	G	9: 106,577,692 (GRCm39)		probably null	Het
Robo4	G	T	9: 37,314,739 (GRCm39)	V198L	probably benign	Het
Selenbp1	C	A	3: 94,844,701 (GRCm39)	H119Q	probably damaging	Het
Slc25a13	T	C	6: 6,152,525 (GRCm39)		probably null	Het
Slc35f5	A	G	1: 125,498,330 (GRCm39)	E176G	possibly damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Tenm4	G	A	7: 96,552,096 (GRCm39)	V2512M	probably damaging	Het
Tmc8	A	G	11: 117,682,188 (GRCm39)		probably null	Het
Trim30d	C	T	7: 104,133,389 (GRCm39)	W21*	probably null	Het
Ube3c	G	A	5: 29,806,200 (GRCm39)	V281I	probably benign	Het
Usp17ld	T	C	7: 102,899,783 (GRCm39)	K383R	probably benign	Het
Vmn1r172	A	T	7: 23,359,529 (GRCm39)	Y138F	probably damaging	Het
Vmn1r180	T	C	7: 23,652,395 (GRCm39)	V186A	possibly damaging	Het
Vmn2r25	T	A	6: 123,828,754 (GRCm39)		probably null	Het
Vmn2r61	T	C	7: 41,949,935 (GRCm39)	F785S	probably damaging	Het
Zfp141	T	A	7: 42,125,470 (GRCm39)	Y334F	probably benign	Het
Zfp609	T	C	9: 65,638,282 (GRCm39)	I317V	probably benign	Het
Zfp879	A	G	11: 50,724,060 (GRCm39)	I259T	possibly damaging	Het

Other mutations in Ptprk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00310:Ptprk	APN	10	28,212,506 (GRCm39)	missense	possibly damaging	0.92
IGL00533:Ptprk	APN	10	28,461,971 (GRCm39)	missense	probably damaging	0.97
IGL01062:Ptprk	APN	10	28,456,414 (GRCm39)	missense	probably damaging	1.00
IGL01295:Ptprk	APN	10	28,351,174 (GRCm39)	missense	probably benign	0.14
IGL01372:Ptprk	APN	10	28,445,923 (GRCm39)	missense	probably benign	0.00
IGL01452:Ptprk	APN	10	28,450,913 (GRCm39)	critical splice donor site	probably null
IGL01829:Ptprk	APN	10	28,449,383 (GRCm39)	missense	probably damaging	1.00
IGL01861:Ptprk	APN	10	28,259,441 (GRCm39)	missense	possibly damaging	0.80
IGL01955:Ptprk	APN	10	28,471,861 (GRCm39)	unclassified	probably benign
IGL02263:Ptprk	APN	10	27,951,110 (GRCm39)	missense	unknown
IGL02489:Ptprk	APN	10	28,259,468 (GRCm39)	missense	probably damaging	1.00
IGL02697:Ptprk	APN	10	28,451,614 (GRCm39)	missense	possibly damaging	0.85
IGL02713:Ptprk	APN	10	28,468,807 (GRCm39)	missense	possibly damaging	0.92
IGL02943:Ptprk	APN	10	28,351,172 (GRCm39)	missense	possibly damaging	0.81
IGL03240:Ptprk	APN	10	28,368,957 (GRCm39)	missense	probably damaging	0.99
IGL03373:Ptprk	APN	10	28,442,533 (GRCm39)	missense	probably damaging	1.00
LCD18:Ptprk	UTSW	10	28,450,983 (GRCm39)	intron	probably benign
PIT4366001:Ptprk	UTSW	10	28,462,015 (GRCm39)	missense	probably benign
R0010:Ptprk	UTSW	10	28,461,965 (GRCm39)	missense	probably damaging	1.00
R0021:Ptprk	UTSW	10	28,468,891 (GRCm39)	missense	probably damaging	1.00
R0021:Ptprk	UTSW	10	28,468,891 (GRCm39)	missense	probably damaging	1.00
R0035:Ptprk	UTSW	10	28,139,504 (GRCm39)	nonsense	probably null
R0035:Ptprk	UTSW	10	28,139,504 (GRCm39)	nonsense	probably null
R0053:Ptprk	UTSW	10	28,351,105 (GRCm39)	missense	probably damaging	0.99
R0063:Ptprk	UTSW	10	28,139,763 (GRCm39)	missense	probably damaging	1.00
R0063:Ptprk	UTSW	10	28,139,763 (GRCm39)	missense	probably damaging	1.00
R0244:Ptprk	UTSW	10	28,082,221 (GRCm39)	missense	possibly damaging	0.79
R0281:Ptprk	UTSW	10	28,449,388 (GRCm39)	missense	probably damaging	1.00
R0387:Ptprk	UTSW	10	28,230,625 (GRCm39)	missense	possibly damaging	0.66
R0480:Ptprk	UTSW	10	28,461,944 (GRCm39)	missense	probably damaging	1.00
R0480:Ptprk	UTSW	10	28,461,943 (GRCm39)	missense	probably damaging	1.00
R0585:Ptprk	UTSW	10	28,451,664 (GRCm39)	missense	probably damaging	1.00
R0614:Ptprk	UTSW	10	27,951,132 (GRCm39)	missense	probably damaging	0.96
R0684:Ptprk	UTSW	10	28,359,294 (GRCm39)	splice site	probably benign
R1073:Ptprk	UTSW	10	28,372,943 (GRCm39)	critical splice donor site	probably null
R1377:Ptprk	UTSW	10	28,462,022 (GRCm39)	missense	probably benign	0.42
R1422:Ptprk	UTSW	10	28,351,276 (GRCm39)	missense	possibly damaging	0.64
R1482:Ptprk	UTSW	10	28,139,512 (GRCm39)	missense	probably benign	0.24
R1532:Ptprk	UTSW	10	28,461,626 (GRCm39)	missense	probably damaging	1.00
R1576:Ptprk	UTSW	10	28,427,647 (GRCm39)	missense	probably damaging	1.00
R1618:Ptprk	UTSW	10	28,369,166 (GRCm39)	missense	probably benign	0.00
R1654:Ptprk	UTSW	10	28,259,643 (GRCm39)	missense	probably damaging	1.00
R1747:Ptprk	UTSW	10	28,230,688 (GRCm39)	missense	possibly damaging	0.78
R2033:Ptprk	UTSW	10	28,468,763 (GRCm39)	unclassified	probably benign
R2059:Ptprk	UTSW	10	28,442,599 (GRCm39)	missense	probably damaging	1.00
R2076:Ptprk	UTSW	10	28,465,364 (GRCm39)	missense	probably damaging	0.98
R2164:Ptprk	UTSW	10	28,436,138 (GRCm39)	missense	probably damaging	1.00
R2260:Ptprk	UTSW	10	28,082,145 (GRCm39)	missense	possibly damaging	0.65
R2394:Ptprk	UTSW	10	28,427,713 (GRCm39)	missense	probably damaging	0.98
R2432:Ptprk	UTSW	10	28,468,840 (GRCm39)	missense	probably damaging	1.00
R2437:Ptprk	UTSW	10	28,230,709 (GRCm39)	missense	probably damaging	1.00
R2495:Ptprk	UTSW	10	28,351,074 (GRCm39)	splice site	probably benign
R3037:Ptprk	UTSW	10	28,456,474 (GRCm39)	missense	probably damaging	1.00
R3162:Ptprk	UTSW	10	28,468,822 (GRCm39)	missense	probably benign
R3162:Ptprk	UTSW	10	28,468,822 (GRCm39)	missense	probably benign
R3687:Ptprk	UTSW	10	28,349,039 (GRCm39)	missense	probably damaging	1.00
R3722:Ptprk	UTSW	10	28,259,619 (GRCm39)	missense	probably damaging	1.00
R3892:Ptprk	UTSW	10	28,139,617 (GRCm39)	missense	probably benign	0.02
R3963:Ptprk	UTSW	10	28,427,661 (GRCm39)	missense	probably damaging	0.99
R4077:Ptprk	UTSW	10	28,139,508 (GRCm39)	missense	probably benign
R4079:Ptprk	UTSW	10	28,139,508 (GRCm39)	missense	probably benign
R4112:Ptprk	UTSW	10	28,351,284 (GRCm39)	critical splice donor site	probably null
R4255:Ptprk	UTSW	10	28,082,241 (GRCm39)	missense	probably benign	0.14
R4523:Ptprk	UTSW	10	28,342,048 (GRCm39)	missense	probably damaging	0.99
R4651:Ptprk	UTSW	10	28,139,686 (GRCm39)	missense	probably damaging	0.99
R4652:Ptprk	UTSW	10	28,139,686 (GRCm39)	missense	probably damaging	0.99
R4828:Ptprk	UTSW	10	28,436,050 (GRCm39)	missense	probably damaging	1.00
R4829:Ptprk	UTSW	10	28,456,480 (GRCm39)	nonsense	probably null
R4883:Ptprk	UTSW	10	28,464,928 (GRCm39)	missense	probably damaging	1.00
R5004:Ptprk	UTSW	10	28,462,059 (GRCm39)	missense	possibly damaging	0.95
R5013:Ptprk	UTSW	10	28,427,713 (GRCm39)	missense	probably damaging	0.99
R5092:Ptprk	UTSW	10	28,468,769 (GRCm39)	missense	probably damaging	1.00
R5126:Ptprk	UTSW	10	28,451,640 (GRCm39)	splice site	probably null
R5183:Ptprk	UTSW	10	28,351,232 (GRCm39)	missense	probably benign	0.02
R5264:Ptprk	UTSW	10	28,461,582 (GRCm39)	missense	probably damaging	1.00
R5304:Ptprk	UTSW	10	28,468,050 (GRCm39)	splice site	probably null
R5330:Ptprk	UTSW	10	28,463,076 (GRCm39)	missense	probably damaging	1.00
R5474:Ptprk	UTSW	10	28,372,926 (GRCm39)	nonsense	probably null
R5516:Ptprk	UTSW	10	28,372,926 (GRCm39)	nonsense	probably null
R5796:Ptprk	UTSW	10	28,259,571 (GRCm39)	missense	probably damaging	1.00
R5843:Ptprk	UTSW	10	28,369,060 (GRCm39)	missense	probably damaging	0.99
R5952:Ptprk	UTSW	10	28,461,671 (GRCm39)	missense	probably damaging	0.99
R6065:Ptprk	UTSW	10	28,351,166 (GRCm39)	missense	probably damaging	1.00
R6226:Ptprk	UTSW	10	28,440,099 (GRCm39)	missense	probably benign	0.02
R6264:Ptprk	UTSW	10	28,442,669 (GRCm39)	missense	probably damaging	1.00
R6638:Ptprk	UTSW	10	28,471,807 (GRCm39)	missense	probably damaging	1.00
R6843:Ptprk	UTSW	10	28,467,978 (GRCm39)	missense	possibly damaging	0.86
R6860:Ptprk	UTSW	10	28,210,480 (GRCm39)	missense	probably damaging	1.00
R6869:Ptprk	UTSW	10	28,349,055 (GRCm39)	critical splice donor site	probably null
R7214:Ptprk	UTSW	10	28,450,905 (GRCm39)	missense	probably benign	0.11
R7307:Ptprk	UTSW	10	28,465,004 (GRCm39)	nonsense	probably null
R7349:Ptprk	UTSW	10	28,468,834 (GRCm39)	missense	possibly damaging	0.85
R7442:Ptprk	UTSW	10	28,450,815 (GRCm39)	missense	probably damaging	1.00
R7585:Ptprk	UTSW	10	28,436,084 (GRCm39)	missense	probably damaging	1.00
R7661:Ptprk	UTSW	10	28,342,036 (GRCm39)	missense	probably benign	0.00
R7694:Ptprk	UTSW	10	28,465,366 (GRCm39)	missense	possibly damaging	0.63
R7740:Ptprk	UTSW	10	28,372,920 (GRCm39)	missense	probably damaging	1.00
R7810:Ptprk	UTSW	10	28,468,853 (GRCm39)	missense	probably damaging	0.97
R7831:Ptprk	UTSW	10	28,444,404 (GRCm39)	missense	possibly damaging	0.89
R7836:Ptprk	UTSW	10	28,449,385 (GRCm39)	missense	probably damaging	1.00
R8049:Ptprk	UTSW	10	28,259,565 (GRCm39)	missense	possibly damaging	0.84
R8235:Ptprk	UTSW	10	28,465,037 (GRCm39)	missense	possibly damaging	0.70
R8274:Ptprk	UTSW	10	28,456,408 (GRCm39)	missense	probably damaging	1.00
R8286:Ptprk	UTSW	10	28,444,323 (GRCm39)	missense	probably damaging	1.00
R8372:Ptprk	UTSW	10	28,230,688 (GRCm39)	missense	possibly damaging	0.78
R8727:Ptprk	UTSW	10	28,442,541 (GRCm39)	unclassified	probably benign
R8794:Ptprk	UTSW	10	28,139,504 (GRCm39)	nonsense	probably null
R8842:Ptprk	UTSW	10	28,442,497 (GRCm39)	missense	probably damaging	0.97
R8861:Ptprk	UTSW	10	28,446,186 (GRCm39)	missense	probably damaging	1.00
R8897:Ptprk	UTSW	10	28,467,953 (GRCm39)	missense	probably damaging	1.00
R8910:Ptprk	UTSW	10	28,368,993 (GRCm39)	missense	possibly damaging	0.68
R8919:Ptprk	UTSW	10	28,359,203 (GRCm39)	nonsense	probably null
R8976:Ptprk	UTSW	10	28,461,669 (GRCm39)	missense	probably damaging	1.00
R8982:Ptprk	UTSW	10	28,436,138 (GRCm39)	missense	probably damaging	1.00
R9036:Ptprk	UTSW	10	28,461,928 (GRCm39)	missense	probably benign	0.01
R9135:Ptprk	UTSW	10	28,456,413 (GRCm39)	missense	probably damaging	1.00
R9308:Ptprk	UTSW	10	28,450,850 (GRCm39)	missense	probably benign	0.15
R9317:Ptprk	UTSW	10	28,230,731 (GRCm39)	missense	probably damaging	0.96
R9475:Ptprk	UTSW	10	28,210,476 (GRCm39)	missense	possibly damaging	0.60
R9585:Ptprk	UTSW	10	28,369,147 (GRCm39)	nonsense	probably null
R9625:Ptprk	UTSW	10	28,462,006 (GRCm39)	missense	probably damaging	0.99
R9700:Ptprk	UTSW	10	28,456,495 (GRCm39)	missense	probably damaging	1.00
R9745:Ptprk	UTSW	10	28,139,608 (GRCm39)	missense	possibly damaging	0.46
Z1177:Ptprk	UTSW	10	28,369,116 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTACAACATCACTCGTTGCCAC -3'
(R):5'- CACAGCATGGCTGCATGTCATTTC -3'

Sequencing Primer
(F):5'- AACGTCACTATCTGCTACCATTAC -3'
(R):5'- GGCTGCATGTCATTTCCTATTCG -3'

Posted On

2014-05-14