Mutagenetix > Incidental Mutation

Incidental Mutation 'R3722:Ptprk'

258976

Institutional Source

Beutler Lab

Gene Symbol

Ptprk

Ensembl Gene

ENSMUSG00000019889

Gene Name

protein tyrosine phosphatase receptor type K

Synonyms

RPTPkappa, PTPk

MMRRC Submission

040713-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3722 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27950816-28473393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28259619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 353 (D353G)

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: D353G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126279
Gene: ENSMUSG00000019889
AA Change: D353G

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: D353G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000218359
AA Change: D353G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219478

Meta Mutation Damage Score

0.5280

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (61/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	T	10: 10,216,254 (GRCm39)	S1485T	probably benign	Het
Akap9	A	G	5: 4,120,351 (GRCm39)	Y3589C	probably damaging	Het
Alkbh8	T	C	9: 3,385,153 (GRCm39)	Y482H	probably damaging	Het
Appl1	G	A	14: 26,649,801 (GRCm39)	T575M	probably damaging	Het
Arhgap21	T	C	2: 20,855,102 (GRCm39)	E1420G	probably damaging	Het
Asic3	A	T	5: 24,621,997 (GRCm39)	Y419F	probably benign	Het
Atg7	A	G	6: 114,672,624 (GRCm39)	Y279C	probably damaging	Het
Braf	G	A	6: 39,600,610 (GRCm39)	P616L	probably damaging	Het
Btnl2	T	C	17: 34,577,109 (GRCm39)	M88T	possibly damaging	Het
C1rb	T	A	6: 124,557,620 (GRCm39)	Y586N	probably damaging	Het
Cacna1s	T	C	1: 135,996,780 (GRCm39)	F127S	possibly damaging	Het
Cd47	A	G	16: 49,688,205 (GRCm39)	I42V	probably benign	Het
Cox8b	T	A	7: 140,478,918 (GRCm39)	K66*	probably null	Het
Diras2	T	A	13: 52,662,059 (GRCm39)	I83F	probably damaging	Het
Dlg2	T	A	7: 91,361,008 (GRCm39)		probably null	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Dnai1	G	A	4: 41,602,615 (GRCm39)	R113H	probably damaging	Het
Dolpp1	T	C	2: 30,287,500 (GRCm39)	L204P	probably damaging	Het
Fam170a	C	T	18: 50,415,271 (GRCm39)	P306S	probably benign	Het
Fbxl12	A	T	9: 20,550,268 (GRCm39)		probably null	Het
Fndc3a	T	A	14: 72,777,648 (GRCm39)	I1186F	probably benign	Het
Gm12886	T	A	4: 121,274,667 (GRCm39)	D71V	probably damaging	Het
H3c8	T	C	13: 23,719,722 (GRCm39)	V36A	possibly damaging	Het
Ica1	A	G	6: 8,659,021 (GRCm39)		probably benign	Het
Ighv8-11	A	G	12: 115,530,771 (GRCm39)	I119T	possibly damaging	Het
Ism1	A	T	2: 139,573,931 (GRCm39)	R94*	probably null	Het
Kbtbd11	T	A	8: 15,079,118 (GRCm39)	C572*	probably null	Het
Kcnk15	T	C	2: 163,700,214 (GRCm39)	L132P	probably damaging	Het
Lrmda	T	A	14: 22,077,399 (GRCm39)		probably benign	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Mrtfb	C	T	16: 13,203,557 (GRCm39)	A201V	probably damaging	Het
Ncstn	G	A	1: 171,895,462 (GRCm39)	T562M	possibly damaging	Het
Nudt4	A	T	10: 95,385,367 (GRCm39)		probably null	Het
Omp	T	C	7: 97,794,420 (GRCm39)	N69S	probably benign	Het
Or10d3	A	C	9: 39,461,418 (GRCm39)	C250G	probably damaging	Het
Or4a75	A	T	2: 89,448,503 (GRCm39)	I11N	possibly damaging	Het
Pak1	C	T	7: 97,503,704 (GRCm39)	P13L	probably damaging	Het
Pde4d	T	A	13: 110,087,866 (GRCm39)	C744*	probably null	Het
Pelp1	T	C	11: 70,289,026 (GRCm39)	Y240C	possibly damaging	Het
Pou2f1	G	C	1: 165,722,538 (GRCm39)	P349R	probably damaging	Het
Ptprs	A	G	17: 56,724,485 (GRCm39)	F1152S	probably damaging	Het
Rnf135	G	T	11: 80,087,743 (GRCm39)	A231S	probably benign	Het
Rpn1	G	A	6: 88,067,282 (GRCm39)		probably null	Het
Rreb1	T	A	13: 38,131,074 (GRCm39)	D1409E	probably benign	Het
Sipa1l2	G	A	8: 126,200,323 (GRCm39)	H668Y	probably damaging	Het
Slc35a5	A	T	16: 44,967,685 (GRCm39)	I138N	probably damaging	Het
Slc35d1	T	C	4: 103,065,321 (GRCm39)	K187E	possibly damaging	Het
Slc44a2	A	T	9: 21,254,273 (GRCm39)	I212F	possibly damaging	Het
Slc7a1	G	A	5: 148,272,343 (GRCm39)	R445*	probably null	Het
Snapc4	A	G	2: 26,255,440 (GRCm39)	L1028P	probably benign	Het
Snrnp40	C	T	4: 130,262,068 (GRCm39)	T152I	possibly damaging	Het
Spata31f1a	T	C	4: 42,851,472 (GRCm39)	E228G	probably benign	Het
Spink4	T	A	4: 40,929,136 (GRCm39)	C54S	probably damaging	Het
Tex2	C	T	11: 106,437,566 (GRCm39)	W203*	probably null	Het
Tmcc1	T	C	6: 116,110,783 (GRCm39)	E170G	possibly damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttll6	A	G	11: 96,024,747 (GRCm39)	N46D	probably benign	Het
Txk	T	A	5: 72,865,078 (GRCm39)	K266*	probably null	Het
Uggt2	T	C	14: 119,278,930 (GRCm39)	E859G	probably damaging	Het
Uros	A	T	7: 133,304,120 (GRCm39)	M1K	probably null	Het
Vps13b	T	A	15: 35,671,528 (GRCm39)	I1677N	probably damaging	Het
Zbtb5	A	G	4: 44,994,863 (GRCm39)		probably null	Het
Zfp760	A	G	17: 21,941,143 (GRCm39)	Y106C	probably 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
R1701:Ptprk	UTSW	10	28,342,054 (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
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'- TTCTAGAACCACCTAGACCCATTG -3'
(R):5'- GGTCGAAATGTTGAATACCATGTG -3'

Sequencing Primer
(F):5'- ACCTAGACCCATTGCTCCTC -3'
(R):5'- AAATGTTGAATACCATGTGTGTGTG -3'

Posted On

2015-01-23