Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01295

Quality Score

Status

Chromosome

Chromosomal Location

28074820-28597397 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28475178 bp

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: 32,661,936	L691I	possibly damaging	Het
Ano7	A	G	1: 93,380,478	D77G	probably benign	Het
Apol10b	A	T	15: 77,585,596	V127E	probably damaging	Het
Apol11b	G	A	15: 77,638,019	T26M	probably damaging	Het
Atn1	T	C	6: 124,749,276	E80G	probably damaging	Het
Carmil2	T	C	8: 105,695,516	M1139T	probably benign	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Celf5	G	T	10: 81,467,080		probably benign	Het
Chd6	G	A	2: 160,988,370		probably benign	Het
Col12a1	A	T	9: 79,643,926	V2136E	probably damaging	Het
Col4a1	G	T	8: 11,236,075		probably benign	Het
Dph1	A	G	11: 75,180,949		probably benign	Het
Dvl2	G	T	11: 70,009,584	V735F	possibly damaging	Het
Eif3b	A	G	5: 140,441,740	I709V	possibly damaging	Het
Elp5	C	T	11: 69,968,470		probably benign	Het
Exd1	A	T	2: 119,530,079		probably benign	Het
Fbxl4	C	A	4: 22,427,348	R530S	probably benign	Het
Fmo4	A	T	1: 162,799,124	D284E	probably damaging	Het
Fn3krp	A	G	11: 121,421,554	Y31C	probably damaging	Het
Galnt14	G	T	17: 73,504,919	Q436K	probably benign	Het
Gm5114	A	T	7: 39,407,817	W793R	probably damaging	Het
Gm9376	T	G	14: 118,267,647	S164A	possibly damaging	Het
Gtf2ird2	G	A	5: 134,192,764	D69N	probably damaging	Het
Hfm1	A	C	5: 106,917,606	M69R	possibly damaging	Het
Ighv9-1	A	C	12: 114,093,999	S94A	probably damaging	Het
Ikzf2	C	T	1: 69,577,987	R67H	probably benign	Het
Ipcef1	A	T	10: 6,900,642	F316L	probably damaging	Het
Kdsr	A	G	1: 106,755,457	V62A	possibly damaging	Het
Kif23	A	T	9: 61,932,129	C279S	possibly damaging	Het
Klf5	C	T	14: 99,301,721	T110I	probably benign	Het
Klhl25	T	A	7: 75,865,872	H175Q	probably benign	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Nfatc4	T	C	14: 55,832,505	V710A	probably benign	Het
Olfr1404	A	T	1: 173,215,873	Y74F	probably damaging	Het
Olfr68	C	T	7: 103,778,241	V35I	probably benign	Het
Optn	G	A	2: 5,033,156	T409I	possibly damaging	Het
Pabpc2	T	A	18: 39,774,029	Y116N	probably damaging	Het
Pafah1b1	G	T	11: 74,683,647	R238S	probably damaging	Het
Pdzd9	C	T	7: 120,668,395	G66R	probably damaging	Het
Pih1d1	T	C	7: 45,159,964	L285P	probably damaging	Het
Pirb	G	A	7: 3,717,406	P323S	probably damaging	Het
Pkd1l1	A	G	11: 8,933,685	F396L	possibly damaging	Het
Pla2g4d	G	A	2: 120,281,726	T108M	probably damaging	Het
Plin3	T	C	17: 56,279,814	Y411C	probably damaging	Het
Ppfibp2	T	C	7: 107,747,539		probably benign	Het
Prrc2c	T	C	1: 162,682,492	S995G	probably damaging	Het
Ptf1a	T	C	2: 19,446,618	I253T	probably damaging	Het
Ptprb	A	G	10: 116,362,648	I1684V	probably benign	Het
Rffl	A	T	11: 82,818,457	C47S	probably damaging	Het
Rnf17	C	T	14: 56,463,064	Q569*	probably null	Het
Shprh	A	G	10: 11,183,868	E1121G	probably damaging	Het
Slc1a5	A	G	7: 16,795,862	D402G	probably damaging	Het
Slc24a3	G	A	2: 145,616,714		probably null	Het
Slc2a13	T	A	15: 91,350,132		probably null	Het
Slc30a8	A	T	15: 52,306,559	N61Y	possibly damaging	Het
Slitrk6	A	T	14: 110,751,436	S280T	possibly damaging	Het
Smad2	G	A	18: 76,302,430	A365T	probably benign	Het
Tcp10b	C	T	17: 13,080,160	P367S	probably damaging	Het
Tdp1	A	G	12: 99,891,670	N163D	probably benign	Het
Thbs1	A	G	2: 118,118,327	D488G	possibly damaging	Het
Trappc12	C	T	12: 28,746,762	S257N	probably damaging	Het
Treml1	T	C	17: 48,365,599		probably benign	Het
Ugt2b36	A	G	5: 87,080,885	V234A	probably damaging	Het
Vmn2r86	T	G	10: 130,453,026	H202P	probably damaging	Het
Vmn2r87	C	A	10: 130,472,009	V787F	probably damaging	Het
Wbp2nl	T	A	15: 82,306,418	M129K	probably damaging	Het
Zdhhc15	T	C	X: 104,544,913		probably null	Het

Other mutations in Ptprk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00310:Ptprk	APN	10	28336510	missense	possibly damaging	0.92
IGL00533:Ptprk	APN	10	28585975	missense	probably damaging	0.97
IGL01062:Ptprk	APN	10	28580418	missense	probably damaging	1.00
IGL01372:Ptprk	APN	10	28569927	missense	probably benign	0.00
IGL01452:Ptprk	APN	10	28574917	critical splice donor site	probably null
IGL01829:Ptprk	APN	10	28573387	missense	probably damaging	1.00
IGL01861:Ptprk	APN	10	28383445	missense	possibly damaging	0.80
IGL01955:Ptprk	APN	10	28595865	unclassified	probably benign
IGL02263:Ptprk	APN	10	28075114	missense	unknown
IGL02489:Ptprk	APN	10	28383472	missense	probably damaging	1.00
IGL02697:Ptprk	APN	10	28575618	missense	possibly damaging	0.85
IGL02713:Ptprk	APN	10	28592811	missense	possibly damaging	0.92
IGL02943:Ptprk	APN	10	28475176	missense	possibly damaging	0.81
IGL03240:Ptprk	APN	10	28492961	missense	probably damaging	0.99
IGL03373:Ptprk	APN	10	28566537	missense	probably damaging	1.00
LCD18:Ptprk	UTSW	10	28574987	intron	probably benign
PIT4366001:Ptprk	UTSW	10	28586019	missense	probably benign
R0010:Ptprk	UTSW	10	28585969	missense	probably damaging	1.00
R0021:Ptprk	UTSW	10	28592895	missense	probably damaging	1.00
R0021:Ptprk	UTSW	10	28592895	missense	probably damaging	1.00
R0035:Ptprk	UTSW	10	28263508	nonsense	probably null
R0035:Ptprk	UTSW	10	28263508	nonsense	probably null
R0053:Ptprk	UTSW	10	28475109	missense	probably damaging	0.99
R0063:Ptprk	UTSW	10	28263767	missense	probably damaging	1.00
R0063:Ptprk	UTSW	10	28263767	missense	probably damaging	1.00
R0244:Ptprk	UTSW	10	28206225	missense	possibly damaging	0.79
R0281:Ptprk	UTSW	10	28573392	missense	probably damaging	1.00
R0387:Ptprk	UTSW	10	28354629	missense	possibly damaging	0.66
R0480:Ptprk	UTSW	10	28585947	missense	probably damaging	1.00
R0480:Ptprk	UTSW	10	28585948	missense	probably damaging	1.00
R0585:Ptprk	UTSW	10	28575668	missense	probably damaging	1.00
R0614:Ptprk	UTSW	10	28075136	missense	probably damaging	0.96
R0684:Ptprk	UTSW	10	28483298	splice site	probably benign
R1073:Ptprk	UTSW	10	28496947	critical splice donor site	probably null
R1377:Ptprk	UTSW	10	28586026	missense	probably benign	0.42
R1422:Ptprk	UTSW	10	28475280	missense	possibly damaging	0.64
R1482:Ptprk	UTSW	10	28263516	missense	probably benign	0.24
R1532:Ptprk	UTSW	10	28585630	missense	probably damaging	1.00
R1576:Ptprk	UTSW	10	28551651	missense	probably damaging	1.00
R1618:Ptprk	UTSW	10	28493170	missense	probably benign	0.00
R1654:Ptprk	UTSW	10	28383647	missense	probably damaging	1.00
R1701:Ptprk	UTSW	10	28466058	missense	probably damaging	1.00
R1747:Ptprk	UTSW	10	28354692	missense	possibly damaging	0.78
R2033:Ptprk	UTSW	10	28592767	unclassified	probably benign
R2059:Ptprk	UTSW	10	28566603	missense	probably damaging	1.00
R2076:Ptprk	UTSW	10	28589368	missense	probably damaging	0.98
R2164:Ptprk	UTSW	10	28560142	missense	probably damaging	1.00
R2260:Ptprk	UTSW	10	28206149	missense	possibly damaging	0.65
R2394:Ptprk	UTSW	10	28551717	missense	probably damaging	0.98
R2432:Ptprk	UTSW	10	28592844	missense	probably damaging	1.00
R2437:Ptprk	UTSW	10	28354713	missense	probably damaging	1.00
R2495:Ptprk	UTSW	10	28475078	splice site	probably benign
R3037:Ptprk	UTSW	10	28580478	missense	probably damaging	1.00
R3162:Ptprk	UTSW	10	28592826	missense	probably benign
R3162:Ptprk	UTSW	10	28592826	missense	probably benign
R3687:Ptprk	UTSW	10	28473043	missense	probably damaging	1.00
R3722:Ptprk	UTSW	10	28383623	missense	probably damaging	1.00
R3892:Ptprk	UTSW	10	28263621	missense	probably benign	0.02
R3963:Ptprk	UTSW	10	28551665	missense	probably damaging	0.99
R4077:Ptprk	UTSW	10	28263512	missense	probably benign
R4079:Ptprk	UTSW	10	28263512	missense	probably benign
R4112:Ptprk	UTSW	10	28475288	critical splice donor site	probably null
R4255:Ptprk	UTSW	10	28206245	missense	probably benign	0.14
R4523:Ptprk	UTSW	10	28466052	missense	probably damaging	0.99
R4651:Ptprk	UTSW	10	28263690	missense	probably damaging	0.99
R4652:Ptprk	UTSW	10	28263690	missense	probably damaging	0.99
R4828:Ptprk	UTSW	10	28560054	missense	probably damaging	1.00
R4829:Ptprk	UTSW	10	28580484	nonsense	probably null
R4883:Ptprk	UTSW	10	28588932	missense	probably damaging	1.00
R5004:Ptprk	UTSW	10	28586063	missense	possibly damaging	0.95
R5013:Ptprk	UTSW	10	28551717	missense	probably damaging	0.99
R5092:Ptprk	UTSW	10	28592773	missense	probably damaging	1.00
R5126:Ptprk	UTSW	10	28575644	splice site	probably null
R5183:Ptprk	UTSW	10	28475236	missense	probably benign	0.02
R5264:Ptprk	UTSW	10	28585586	missense	probably damaging	1.00
R5304:Ptprk	UTSW	10	28592054	splice site	probably null
R5330:Ptprk	UTSW	10	28587080	missense	probably damaging	1.00
R5474:Ptprk	UTSW	10	28496930	nonsense	probably null
R5516:Ptprk	UTSW	10	28496930	nonsense	probably null
R5796:Ptprk	UTSW	10	28383575	missense	probably damaging	1.00
R5843:Ptprk	UTSW	10	28493064	missense	probably damaging	0.99
R5952:Ptprk	UTSW	10	28585675	missense	probably damaging	0.99
R6065:Ptprk	UTSW	10	28475170	missense	probably damaging	1.00
R6226:Ptprk	UTSW	10	28564103	missense	probably benign	0.02
R6264:Ptprk	UTSW	10	28566673	missense	probably damaging	1.00
R6638:Ptprk	UTSW	10	28595811	missense	probably damaging	1.00
R6843:Ptprk	UTSW	10	28591982	missense	possibly damaging	0.86
R6860:Ptprk	UTSW	10	28334484	missense	probably damaging	1.00
R6869:Ptprk	UTSW	10	28473059	critical splice donor site	probably null
R7214:Ptprk	UTSW	10	28574909	missense	probably benign	0.11
R7307:Ptprk	UTSW	10	28589008	nonsense	probably null
R7349:Ptprk	UTSW	10	28592838	missense	possibly damaging	0.85
R7442:Ptprk	UTSW	10	28574819	missense	probably damaging	1.00
R7585:Ptprk	UTSW	10	28560088	missense	probably damaging	1.00
R7661:Ptprk	UTSW	10	28466040	missense	probably benign	0.00
R7694:Ptprk	UTSW	10	28589370	missense	possibly damaging	0.63
R7740:Ptprk	UTSW	10	28496924	missense	probably damaging	1.00
R7810:Ptprk	UTSW	10	28592857	missense	probably damaging	0.97
R7831:Ptprk	UTSW	10	28568408	missense	possibly damaging	0.89
R7836:Ptprk	UTSW	10	28573389	missense	probably damaging	1.00
R8049:Ptprk	UTSW	10	28383569	missense	possibly damaging	0.84
R8235:Ptprk	UTSW	10	28589041	missense	possibly damaging	0.70
R8274:Ptprk	UTSW	10	28580412	missense	probably damaging	1.00
R8286:Ptprk	UTSW	10	28568327	missense	probably damaging	1.00
R8372:Ptprk	UTSW	10	28354692	missense	possibly damaging	0.78
R8727:Ptprk	UTSW	10	28566545	unclassified	probably benign
R8794:Ptprk	UTSW	10	28263508	nonsense	probably null
R8842:Ptprk	UTSW	10	28566501	missense	probably damaging	0.97
R8861:Ptprk	UTSW	10	28570190	missense	probably damaging	1.00
R8897:Ptprk	UTSW	10	28591957	missense	probably damaging	1.00
R8910:Ptprk	UTSW	10	28492997	missense	possibly damaging	0.68
R8919:Ptprk	UTSW	10	28483207	nonsense	probably null
R8976:Ptprk	UTSW	10	28585673	missense	probably damaging	1.00
R8982:Ptprk	UTSW	10	28560142	missense	probably damaging	1.00
R9036:Ptprk	UTSW	10	28585932	missense	probably benign	0.01
R9135:Ptprk	UTSW	10	28580417	missense	probably damaging	1.00
Z1177:Ptprk	UTSW	10	28493120	missense	probably damaging	1.00

Posted On

2013-10-07