Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01295:Ptprk'

73067

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptprk

Ensembl Gene

ENSMUSG00000019889

Gene Name

protein tyrosine phosphatase receptor type K

Synonyms

RPTPkappa, PTPk

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01295

Quality Score

Status

Chromosome

Chromosomal Location

27950816-28473393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28351174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 556 (V556I)

Ref Sequence

ENSEMBL: ENSMUSP00000151866 (fasta)

Gene Model

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

AlphaFold

P35822

Predicted Effect

probably benign
Transcript: ENSMUST00000166468
AA Change: V556I

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126279
Gene: ENSMUSG00000019889
AA Change: V556I

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 benign
Transcript: ENSMUST00000218276
AA Change: V556I

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000218359
AA Change: V556I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219478

Coding Region Coverage

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,893 (GRCm39)	L691I	possibly damaging	Het
Ano7	A	G	1: 93,308,200 (GRCm39)	D77G	probably benign	Het
Apol10b	A	T	15: 77,469,796 (GRCm39)	V127E	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Atn1	T	C	6: 124,726,239 (GRCm39)	E80G	probably damaging	Het
Carmil2	T	C	8: 106,422,148 (GRCm39)	M1139T	probably benign	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Celf5	G	T	10: 81,302,914 (GRCm39)		probably benign	Het
Chd6	G	A	2: 160,830,290 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,551,208 (GRCm39)	V2136E	probably damaging	Het
Col4a1	G	T	8: 11,286,075 (GRCm39)		probably benign	Het
Dph1	A	G	11: 75,071,775 (GRCm39)		probably benign	Het
Dvl2	G	T	11: 69,900,410 (GRCm39)	V735F	possibly damaging	Het
Eif3b	A	G	5: 140,427,495 (GRCm39)	I709V	possibly damaging	Het
Elp5	C	T	11: 69,859,296 (GRCm39)		probably benign	Het
Exd1	A	T	2: 119,360,560 (GRCm39)		probably benign	Het
Fbxl4	C	A	4: 22,427,348 (GRCm39)	R530S	probably benign	Het
Fmo4	A	T	1: 162,626,693 (GRCm39)	D284E	probably damaging	Het
Fn3krp	A	G	11: 121,312,380 (GRCm39)	Y31C	probably damaging	Het
Galnt14	G	T	17: 73,811,914 (GRCm39)	Q436K	probably benign	Het
Gm5114	A	T	7: 39,057,241 (GRCm39)	W793R	probably damaging	Het
Gm9376	T	G	14: 118,505,059 (GRCm39)	S164A	possibly damaging	Het
Gtf2ird2	G	A	5: 134,221,603 (GRCm39)	D69N	probably damaging	Het
Hfm1	A	C	5: 107,065,472 (GRCm39)	M69R	possibly damaging	Het
Ighv9-1	A	C	12: 114,057,619 (GRCm39)	S94A	probably damaging	Het
Ikzf2	C	T	1: 69,617,146 (GRCm39)	R67H	probably benign	Het
Ipcef1	A	T	10: 6,850,642 (GRCm39)	F316L	probably damaging	Het
Kdsr	A	G	1: 106,683,187 (GRCm39)	V62A	possibly damaging	Het
Kif23	A	T	9: 61,839,411 (GRCm39)	C279S	possibly damaging	Het
Klf5	C	T	14: 99,539,157 (GRCm39)	T110I	probably benign	Het
Klhl25	T	A	7: 75,515,620 (GRCm39)	H175Q	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Nfatc4	T	C	14: 56,069,962 (GRCm39)	V710A	probably benign	Het
Optn	G	A	2: 5,037,967 (GRCm39)	T409I	possibly damaging	Het
Or10j3b	A	T	1: 173,043,440 (GRCm39)	Y74F	probably damaging	Het
Or52a5	C	T	7: 103,427,448 (GRCm39)	V35I	probably benign	Het
Pabpc2	T	A	18: 39,907,082 (GRCm39)	Y116N	probably damaging	Het
Pafah1b1	G	T	11: 74,574,473 (GRCm39)	R238S	probably damaging	Het
Pdzd9	C	T	7: 120,267,618 (GRCm39)	G66R	probably damaging	Het
Pih1d1	T	C	7: 44,809,388 (GRCm39)	L285P	probably damaging	Het
Pirb	G	A	7: 3,720,405 (GRCm39)	P323S	probably damaging	Het
Pkd1l1	A	G	11: 8,883,685 (GRCm39)	F396L	possibly damaging	Het
Pla2g4d	G	A	2: 120,112,207 (GRCm39)	T108M	probably damaging	Het
Plin3	T	C	17: 56,586,814 (GRCm39)	Y411C	probably damaging	Het
Ppfibp2	T	C	7: 107,346,746 (GRCm39)		probably benign	Het
Prrc2c	T	C	1: 162,510,061 (GRCm39)	S995G	probably damaging	Het
Ptf1a	T	C	2: 19,451,429 (GRCm39)	I253T	probably damaging	Het
Ptprb	A	G	10: 116,198,553 (GRCm39)	I1684V	probably benign	Het
Rffl	A	T	11: 82,709,283 (GRCm39)	C47S	probably damaging	Het
Rnf17	C	T	14: 56,700,521 (GRCm39)	Q569*	probably null	Het
Shprh	A	G	10: 11,059,612 (GRCm39)	E1121G	probably damaging	Het
Slc1a5	A	G	7: 16,529,787 (GRCm39)	D402G	probably damaging	Het
Slc24a3	G	A	2: 145,458,634 (GRCm39)		probably null	Het
Slc2a13	T	A	15: 91,234,335 (GRCm39)		probably null	Het
Slc30a8	A	T	15: 52,169,955 (GRCm39)	N61Y	possibly damaging	Het
Slitrk6	A	T	14: 110,988,868 (GRCm39)	S280T	possibly damaging	Het
Smad2	G	A	18: 76,435,501 (GRCm39)	A365T	probably benign	Het
Tcp10b	C	T	17: 13,299,047 (GRCm39)	P367S	probably damaging	Het
Tdp1	A	G	12: 99,857,929 (GRCm39)	N163D	probably benign	Het
Thbs1	A	G	2: 117,948,808 (GRCm39)	D488G	possibly damaging	Het
Trappc12	C	T	12: 28,796,761 (GRCm39)	S257N	probably damaging	Het
Treml1	T	C	17: 48,672,627 (GRCm39)		probably benign	Het
Ugt2b36	A	G	5: 87,228,744 (GRCm39)	V234A	probably damaging	Het
Vmn2r86	T	G	10: 130,288,895 (GRCm39)	H202P	probably damaging	Het
Vmn2r87	C	A	10: 130,307,878 (GRCm39)	V787F	probably damaging	Het
Wbp2nl	T	A	15: 82,190,619 (GRCm39)	M129K	probably damaging	Het
Zdhhc15	T	C	X: 103,588,519 (GRCm39)		probably null	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
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
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

Posted On

2013-10-07