Mutagenetix > Incidental Mutation

Incidental Mutation 'R4523:Ptprk'

334317

Institutional Source

Beutler Lab

Gene Symbol

Ptprk

Ensembl Gene

ENSMUSG00000019889

Gene Name

protein tyrosine phosphatase receptor type K

Synonyms

RPTPkappa, PTPk

MMRRC Submission

042004-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4523 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27950816-28473393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28342048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 485 (D485V)

Ref Sequence

ENSEMBL: ENSMUSP00000151866 (fasta)

Gene Model

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

AlphaFold

P35822

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166468
AA Change: D485V

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126279
Gene: ENSMUSG00000019889
AA Change: D485V

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: D485V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218359
AA Change: D485V

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219478

Meta Mutation Damage Score

0.4419

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (61/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	G	T	5: 67,824,943 (GRCm39)	T796K	probably benign	Het
Atr	T	C	9: 95,744,916 (GRCm39)	S78P	probably damaging	Het
Calb2	C	T	8: 110,875,141 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,879,591 (GRCm39)	S1843R	possibly damaging	Het
Cdca7	A	G	2: 72,310,042 (GRCm39)	S77G	probably damaging	Het
Cfap47	A	T	X: 78,553,601 (GRCm39)	N291K	possibly damaging	Het
Cnot2	C	T	10: 116,417,379 (GRCm39)		probably benign	Het
Cstf2t	T	A	19: 31,060,482 (GRCm39)	V6D	possibly damaging	Het
Cybc1	A	G	11: 121,114,934 (GRCm39)		probably benign	Het
Dido1	T	C	2: 180,314,085 (GRCm39)	I852V	probably damaging	Het
Dmgdh	C	T	13: 93,825,138 (GRCm39)	Q154*	probably null	Het
Dnah12	T	C	14: 26,491,979 (GRCm39)	F1138S	probably damaging	Het
Dnah12	G	A	14: 26,598,915 (GRCm39)	A998T	possibly damaging	Het
Dusp5	T	G	19: 53,526,032 (GRCm39)	Y225D	probably damaging	Het
Fam193a	G	A	5: 34,600,715 (GRCm39)	D601N	probably benign	Het
Fbxo41	A	G	6: 85,461,024 (GRCm39)	I228T	probably damaging	Het
Fmo2	T	C	1: 162,715,277 (GRCm39)	K115R	probably benign	Het
Gak	G	T	5: 108,724,432 (GRCm39)	Q1093K	probably benign	Het
Gm5277	G	T	3: 78,799,493 (GRCm39)		noncoding transcript	Het
Hgsnat	A	G	8: 26,458,389 (GRCm39)		probably null	Het
Hycc1	T	C	5: 24,170,120 (GRCm39)	T410A	probably benign	Het
Irag1	T	C	7: 110,523,048 (GRCm39)	M338V	probably benign	Het
Map3k3	G	A	11: 106,039,694 (GRCm39)	R278H	probably damaging	Het
Muc4	T	C	16: 32,555,154 (GRCm39)		probably benign	Het
Nectin3	C	A	16: 46,268,953 (GRCm39)	R483L	probably benign	Het
Nop2	G	T	6: 125,110,515 (GRCm39)	R47L	probably damaging	Het
Ntng1	A	G	3: 109,842,312 (GRCm39)	S154P	probably damaging	Het
Olfml2b	T	C	1: 170,496,791 (GRCm39)	I474T	probably benign	Het
Optc	G	T	1: 133,831,492 (GRCm39)	T138K	possibly damaging	Het
Or7g25	T	C	9: 19,160,525 (GRCm39)	T57A	probably damaging	Het
Or8k22	C	G	2: 86,163,644 (GRCm39)	D19H	probably benign	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pard3	C	T	8: 128,125,108 (GRCm39)	P421S	probably benign	Het
Pcdhb22	G	T	18: 37,653,474 (GRCm39)	E647D	probably benign	Het
Pclo	A	G	5: 14,730,006 (GRCm39)		probably benign	Het
Prkce	G	T	17: 86,798,178 (GRCm39)		probably null	Het
Prr12	T	C	7: 44,697,947 (GRCm39)	D656G	unknown	Het
Ptprn2	T	C	12: 116,839,620 (GRCm39)	L381P	probably damaging	Het
Rnf144b	T	C	13: 47,361,013 (GRCm39)	I51T	probably benign	Het
Rpl10l	T	C	12: 66,330,512 (GRCm39)	D207G	probably benign	Het
Sh3glb2	A	T	2: 30,240,711 (GRCm39)	V118E	probably damaging	Het
Sipa1l2	C	T	8: 126,219,163 (GRCm39)	G58D	probably damaging	Het
Slc5a4a	C	T	10: 75,984,196 (GRCm39)	A46V	probably damaging	Het
Spmip8	T	A	8: 96,039,638 (GRCm39)	Y18*	probably null	Het
Tgm7	C	A	2: 120,929,069 (GRCm39)		probably null	Het
Tjap1	A	G	17: 46,569,718 (GRCm39)	V424A	probably benign	Het
Trpm6	A	T	19: 18,773,864 (GRCm39)	I414F	probably damaging	Het
Tsr3	C	G	17: 25,460,723 (GRCm39)	D196E	probably benign	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn2r72	T	A	7: 85,401,134 (GRCm39)	H95L	probably benign	Het
Vmn2r97	T	A	17: 19,149,333 (GRCm39)	N240K	probably benign	Het
Xdh	C	A	17: 74,205,339 (GRCm39)	G1042V	probably damaging	Het
Zcchc4	A	G	5: 52,941,409 (GRCm39)	D68G	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
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
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'- GCTACAACATCACTCGTTGCC -3'
(R):5'- CATGGCTGCATGTCATTTCC -3'

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

Posted On

2015-08-18