Mutagenetix > Incidental Mutation

Incidental Mutation 'R4077:Ptprk'

316631

Institutional Source

Beutler Lab

Gene Symbol

Ptprk

Ensembl Gene

ENSMUSG00000019889

Gene Name

protein tyrosine phosphatase receptor type K

Synonyms

RPTPkappa, PTPk

MMRRC Submission

041622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27950816-28473393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28139508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 78 (V78I)

Ref Sequence

ENSEMBL: ENSMUSP00000151986 (fasta)

Gene Model

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

AlphaFold

P35822

Predicted Effect

probably benign
Transcript: ENSMUST00000166468
AA Change: V78I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126279
Gene: ENSMUSG00000019889
AA Change: V78I

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: V78I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000218359
AA Change: V78I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219761

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	A	2: 150,690,379 (GRCm39)		probably null	Het
Adam33	T	C	2: 130,905,444 (GRCm39)		probably benign	Het
Adrm1b	A	C	3: 92,336,195 (GRCm39)		probably benign	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Arhgef12	T	C	9: 42,886,588 (GRCm39)	M1131V	probably damaging	Het
Atrn	T	C	2: 130,806,850 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,963,879 (GRCm39)	T817A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,169,236 (GRCm39)	V293A	probably benign	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cdnf	A	G	2: 3,522,060 (GRCm39)	Y84C	probably damaging	Het
Chdh	T	C	14: 29,757,297 (GRCm39)	S407P	probably damaging	Het
Cmtr1	C	A	17: 29,904,949 (GRCm39)	T300K	probably damaging	Het
Dennd2d	A	T	3: 106,389,939 (GRCm39)		probably benign	Het
Diaph1	T	A	18: 37,986,636 (GRCm39)	E1116D	possibly damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Eif1ad3	A	T	12: 87,843,710 (GRCm39)	D119V	possibly damaging	Het
Enpp1	A	G	10: 24,544,905 (GRCm39)		probably null	Het
Erbb4	T	C	1: 68,079,496 (GRCm39)	T1195A	probably benign	Het
Ermard	T	A	17: 15,273,638 (GRCm39)	S408T	probably benign	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
F13b	T	A	1: 139,429,508 (GRCm39)	F9I	unknown	Het
Fnbp4	C	T	2: 90,588,821 (GRCm39)	R531*	probably null	Het
Gdf6	A	G	4: 9,844,776 (GRCm39)	Y100C	probably damaging	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Grm8	T	C	6: 27,760,208 (GRCm39)	H374R	probably benign	Het
Hbs1l	T	C	10: 21,228,501 (GRCm39)	V493A	probably damaging	Het
Hgs	A	G	11: 120,368,202 (GRCm39)	K277E	probably damaging	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hoxa11	A	T	6: 52,222,504 (GRCm39)	Y66N	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Igdcc4	T	A	9: 65,039,047 (GRCm39)	L944Q	probably damaging	Het
Ighv3-1	C	A	12: 113,928,107 (GRCm39)	S84I	probably damaging	Het
Iqgap2	T	C	13: 95,794,375 (GRCm39)	D1199G	probably damaging	Het
Kcnk10	A	T	12: 98,401,205 (GRCm39)	M490K	probably benign	Het
Kirrel1	A	G	3: 86,992,387 (GRCm39)		probably null	Het
Lias	A	T	5: 65,552,768 (GRCm39)	T124S	probably benign	Het
Lrig3	A	C	10: 125,845,656 (GRCm39)	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Lrrc37a	T	A	11: 103,388,808 (GRCm39)	T2206S	unknown	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mis12	A	G	11: 70,916,134 (GRCm39)	T56A	probably benign	Het
Or10ag56	T	A	2: 87,139,208 (GRCm39)	M25K	probably null	Het
Or1l4	T	A	2: 37,092,024 (GRCm39)	I257N	possibly damaging	Het
Or4k41	A	G	2: 111,279,848 (GRCm39)	D121G	probably damaging	Het
Or5b99	T	C	19: 12,977,235 (GRCm39)	V295A	probably damaging	Het
Otof	A	T	5: 30,576,850 (GRCm39)	L134Q	possibly damaging	Het
Pds5b	T	A	5: 150,717,824 (GRCm39)	V1155E	possibly damaging	Het
Pdss2	A	T	10: 43,278,518 (GRCm39)	M342L	probably benign	Het
Phyhipl	C	T	10: 70,404,903 (GRCm39)	V57I	probably damaging	Het
Plekha5	T	A	6: 140,501,647 (GRCm39)		probably null	Het
Pnck	A	T	X: 72,701,761 (GRCm39)	V93E	probably damaging	Het
Proser1	A	G	3: 53,385,962 (GRCm39)	T615A	probably damaging	Het
Ptprv	A	G	1: 135,038,168 (GRCm39)		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,838 (GRCm39)	N233S	probably damaging	Het
Rassf2	G	A	2: 131,854,522 (GRCm39)	P7S	probably benign	Het
Sart1	A	T	19: 5,432,771 (GRCm39)	L521Q	possibly damaging	Het
Scgb1b21	T	A	7: 33,227,118 (GRCm39)		noncoding transcript	Het
Scyl2	A	T	10: 89,476,458 (GRCm39)	M889K	probably benign	Het
Secisbp2l	A	G	2: 125,593,785 (GRCm39)		probably benign	Het
Svil	A	G	18: 5,063,522 (GRCm39)	E931G	probably benign	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tdrd1	A	G	19: 56,819,505 (GRCm39)	M2V	probably benign	Het
Tjp2	A	T	19: 24,086,182 (GRCm39)	V780E	possibly damaging	Het
Tram1	A	G	1: 13,636,599 (GRCm39)	V358A	probably benign	Het
Unc13c	C	T	9: 73,643,821 (GRCm39)	W1214*	probably null	Het
Vps13b	T	C	15: 35,455,274 (GRCm39)	C728R	probably damaging	Het
Wwox	A	G	8: 115,166,481 (GRCm39)		probably benign	Het
Zbtb41	G	A	1: 139,357,064 (GRCm39)	V440I	probably benign	Het
Zfp777	T	C	6: 48,002,456 (GRCm39)	S589G	probably benign	Het
Zfp955a	A	G	17: 33,460,675 (GRCm39)	Y486H	probably benign	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
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'- TGGATCTACGTGATGTCTTGAC -3'
(R):5'- CGACCAGTGAATCCAGTTACATTCC -3'

Sequencing Primer
(F):5'- GACTGATATTTTTCTATGGCCCTG -3'
(R):5'- TCCAAATTGGATTAGCAAGAGGTCC -3'

Posted On

2015-05-15