Mutagenetix > Incidental Mutation

Incidental Mutation 'R8919:Ptprk'

679136

Institutional Source

Beutler Lab

Gene Symbol

Ptprk

Ensembl Gene

ENSMUSG00000019889

Gene Name

protein tyrosine phosphatase receptor type K

Synonyms

RPTPkappa, PTPk

MMRRC Submission

068706-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8919 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27950816-28473393 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 28359203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 598 (Y598*)

Ref Sequence

ENSEMBL: ENSMUSP00000151866 (fasta)

Gene Model

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

AlphaFold

P35822

Predicted Effect

probably null
Transcript: ENSMUST00000166468
AA Change: Y598*

SMART Domains

Protein: ENSMUSP00000126279
Gene: ENSMUSG00000019889
AA Change: Y598*

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 null
Transcript: ENSMUST00000218276
AA Change: Y598*

Predicted Effect

probably null
Transcript: ENSMUST00000218359
AA Change: Y598*

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	C	T	8: 60,993,158 (GRCm39)	T373I	possibly damaging	Het
Abca13	T	C	11: 9,241,653 (GRCm39)	L1172P	possibly damaging	Het
Abcg2	A	G	6: 58,661,326 (GRCm39)	Y459C	probably benign	Het
AC125199.3	T	C	16: 88,609,061 (GRCm39)	N4D	possibly damaging	Het
Acad8	A	G	9: 26,910,785 (GRCm39)	M3T	probably benign	Het
Acsbg3	A	C	17: 57,189,218 (GRCm39)	I209L	probably benign	Het
Adcyap1r1	C	T	6: 55,474,080 (GRCm39)	T472I	probably damaging	Het
Ank3	A	T	10: 69,840,671 (GRCm39)	K1890N	possibly damaging	Het
Asic1	G	A	15: 99,569,826 (GRCm39)	C49Y	probably benign	Het
Atp1a1	T	C	3: 101,498,547 (GRCm39)	N215S	probably damaging	Het
C87436	A	G	6: 86,422,774 (GRCm39)	Y116C	probably damaging	Het
Car5a	T	C	8: 122,671,519 (GRCm39)	D5G	probably benign	Het
Ccdc169	T	C	3: 55,058,368 (GRCm39)		probably null	Het
Ccdc93	A	G	1: 121,426,970 (GRCm39)	R586G	probably damaging	Het
Cep295	A	G	9: 15,238,007 (GRCm39)	V131A	probably damaging	Het
Cox5a	A	G	9: 57,436,329 (GRCm39)	D60G	possibly damaging	Het
Cpne6	A	T	14: 55,750,104 (GRCm39)	E78D	probably benign	Het
Cyp2u1	T	C	3: 131,089,114 (GRCm39)	E390G	probably damaging	Het
Dab2	C	A	15: 6,465,271 (GRCm39)	N707K		Het
Dock10	A	T	1: 80,483,147 (GRCm39)	D2101E	probably benign	Het
Duoxa2	G	A	2: 122,132,357 (GRCm39)		probably null	Het
Eif4a3	T	C	11: 119,190,758 (GRCm39)	D22G	probably benign	Het
Fhip1b	T	C	7: 105,037,477 (GRCm39)	T369A	possibly damaging	Het
Fubp3	A	G	2: 31,482,476 (GRCm39)		probably null	Het
Gm10330	A	G	12: 23,829,887 (GRCm39)	L98P	probably benign	Het
Gm5108	A	G	5: 68,134,299 (GRCm39)	*102W	probably null	Het
Gpr149	A	C	3: 62,438,478 (GRCm39)	S560A	probably damaging	Het
Haspin	T	C	11: 73,027,430 (GRCm39)	D553G	probably benign	Het
Hsf1	C	T	15: 76,382,051 (GRCm39)	H104Y	probably benign	Het
Ifi203	T	C	1: 173,756,494 (GRCm39)	T430A	unknown	Het
Itih2	G	A	2: 10,102,822 (GRCm39)	Q771*	probably null	Het
Kazald1	T	A	19: 45,065,395 (GRCm39)	L92Q	probably damaging	Het
Krt19	T	C	11: 100,031,980 (GRCm39)	E324G	probably damaging	Het
Lrrc28	A	T	7: 67,268,833 (GRCm39)	V79E	possibly damaging	Het
Ltn1	T	A	16: 87,178,381 (GRCm39)	Q1616L	probably damaging	Het
Mdc1	A	G	17: 36,158,843 (GRCm39)	K408E	probably benign	Het
Nalcn	A	T	14: 123,561,284 (GRCm39)	M738K	probably benign	Het
Ncoa4	T	C	14: 31,894,848 (GRCm39)	L125P	probably damaging	Het
Ncor2	G	T	5: 125,106,253 (GRCm39)	R810S		Het
Neb	C	T	2: 52,127,141 (GRCm39)	G348D		Het
Nfat5	T	A	8: 108,095,228 (GRCm39)	F1156L	probably damaging	Het
Oit3	G	A	10: 59,277,468 (GRCm39)	T13I	unknown	Het
Opa1	A	C	16: 29,424,340 (GRCm39)	Q230P	probably damaging	Het
Or10j3b	T	C	1: 173,044,064 (GRCm39)	I282T	probably damaging	Het
Or52k2	T	A	7: 102,253,711 (GRCm39)	I50N	probably damaging	Het
Or5p66	A	G	7: 107,886,289 (GRCm39)	F15L	probably damaging	Het
Or5w12	A	C	2: 87,502,567 (GRCm39)	L48W	probably damaging	Het
Or6c5b	G	T	10: 129,246,082 (GRCm39)	M282I	probably benign	Het
Parpbp	T	C	10: 87,946,189 (GRCm39)	H410R	probably null	Het
Pex5l	A	G	3: 33,007,333 (GRCm39)	V481A	probably damaging	Het
Plekhh3	C	A	11: 101,057,225 (GRCm39)	R344L	probably benign	Het
Prrc2b	T	C	2: 32,104,953 (GRCm39)	V1477A	probably benign	Het
Ptp4a2	G	A	4: 129,738,945 (GRCm39)	G94S	possibly damaging	Het
Rfx5	C	A	3: 94,864,475 (GRCm39)	T207N	probably damaging	Het
Rnase2b	A	G	14: 51,400,347 (GRCm39)	T143A	possibly damaging	Het
Scn1a	A	G	2: 66,168,330 (GRCm39)	V92A	probably benign	Het
Shank2	C	A	7: 143,965,265 (GRCm39)	P958T	probably damaging	Het
Slc13a1	A	G	6: 24,108,194 (GRCm39)	I294T	probably damaging	Het
Slc4a8	A	T	15: 100,712,421 (GRCm39)	E1084D	probably benign	Het
Smurf1	T	A	5: 144,820,422 (GRCm39)	R549*	probably null	Het
Spmip10	T	C	18: 56,725,537 (GRCm39)	F66L	probably damaging	Het
Sprr2b	T	C	3: 92,225,032 (GRCm39)	C93R	unknown	Het
Tcn2	G	T	11: 3,873,569 (GRCm39)	S259Y	probably damaging	Het
Tent4a	G	T	13: 69,651,828 (GRCm39)	T531N	possibly damaging	Het
Tle1	A	G	4: 72,076,525 (GRCm39)	S168P	possibly damaging	Het
Tnfrsf1b	C	T	4: 144,950,150 (GRCm39)	G264D	probably damaging	Het
Tnks2	T	A	19: 36,823,088 (GRCm39)	N118K	probably damaging	Het
Topaz1	G	T	9: 122,626,930 (GRCm39)		probably benign	Het
Traf3ip1	A	G	1: 91,443,796 (GRCm39)		probably benign	Het
Ttk	A	G	9: 83,721,322 (GRCm39)	E69G	probably damaging	Het
Tulp3	T	C	6: 128,310,966 (GRCm39)	D87G	probably benign	Het
Usp38	C	T	8: 81,708,479 (GRCm39)	G1033D	probably damaging	Het
Usp44	T	A	10: 93,693,775 (GRCm39)	N707K	probably benign	Het
Vipas39	T	A	12: 87,305,858 (GRCm39)	R112*	probably null	Het
Vmn1r185	A	C	7: 26,311,206 (GRCm39)	S100A	probably damaging	Het
Vmn1r209	T	C	13: 22,990,223 (GRCm39)	M156V	probably benign	Het
Vmn1r3	G	A	4: 3,184,863 (GRCm39)	T148I	probably benign	Het
Wdr41	G	A	13: 95,151,620 (GRCm39)	R260H	probably benign	Het
Wdr90	G	A	17: 26,076,146 (GRCm39)	R104C		Het
Wnk2	A	T	13: 49,221,711 (GRCm39)	H1183Q	possibly damaging	Het
Zfp667	A	T	7: 6,308,256 (GRCm39)	H308L	possibly damaging	Het
Zfp952	A	G	17: 33,220,628 (GRCm39)	N18D	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
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
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
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'- AACAACGTCCCCTTTCTAGC -3'
(R):5'- AGTCCCCTCTTAACTACAGGTC -3'

Sequencing Primer
(F):5'- AGCTTCTTCTGCTAGGGTTAAG -3'
(R):5'- ACAGGTCTATTTGCAATCTTTGTTC -3'

Posted On

2021-08-02