Mutagenetix > Incidental Mutation

Incidental Mutation 'R9147:Ptpra'

694676

Institutional Source

Beutler Lab

Gene Symbol

Ptpra

Ensembl Gene

ENSMUSG00000027303

Gene Name

protein tyrosine phosphatase receptor type A

Synonyms

PTP[a], RPTRalpha, PTPalpha, RPTPalpha, Ptpa

MMRRC Submission

068936-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9147 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130292198-130396220 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30328255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 192 (M192K)

Ref Sequence

ENSEMBL: ENSMUSP00000046837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042055] [ENSMUST00000113601] [ENSMUST00000113603] [ENSMUST00000131476] [ENSMUST00000136009]

AlphaFold

P18052

Predicted Effect

probably damaging
Transcript: ENSMUST00000042055
AA Change: M192K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046837
Gene: ENSMUSG00000039515
AA Change: M192K

Domain	Start	End	E-Value	Type
low complexity region	8	20	N/A	INTRINSIC
Pfam:PTPA	26	319	1.5e-126	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113601

SMART Domains

Protein: ENSMUSP00000109231
Gene: ENSMUSG00000039515

Domain	Start	End	E-Value	Type
low complexity region	8	20	N/A	INTRINSIC
Pfam:PTPA	38	104	5.7e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113603
AA Change: M150K

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109233
Gene: ENSMUSG00000039515
AA Change: M150K

Domain	Start	End	E-Value	Type
low complexity region	8	20	N/A	INTRINSIC
Pfam:PTPA	64	280	5.7e-90	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114290
Gene: ENSMUSG00000039515
AA Change: M5K

Domain	Start	End	E-Value	Type
Pfam:PTPA	1	125	6.1e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131476

SMART Domains

Protein: ENSMUSP00000116268
Gene: ENSMUSG00000039515

Domain	Start	End	E-Value	Type
Pfam:PTPA	1	61	8.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136009

SMART Domains

Protein: ENSMUSP00000114985
Gene: ENSMUSG00000039515

Domain	Start	End	E-Value	Type
Pfam:PTPA	1	61	8.3e-28	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (93/96)

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 contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit deficits in Morris water maze learning, reduced locomotor activity, and decreased anxiety. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	A	3: 68,777,345 (GRCm39)	I102N	probably damaging	Het
2610008E11Rik	A	T	10: 78,903,406 (GRCm39)	C303*	probably null	Het
A430033K04Rik	T	A	5: 138,644,547 (GRCm39)	V144D	possibly damaging	Het
Adamts13	T	A	2: 26,883,024 (GRCm39)	M858K	probably benign	Het
Ankrd29	T	C	18: 12,408,760 (GRCm39)		probably benign	Het
Apc	T	A	18: 34,450,710 (GRCm39)	S2535R	probably damaging	Het
C1s1	T	C	6: 124,517,758 (GRCm39)	D74G	probably damaging	Het
Cacnb2	G	A	2: 14,972,773 (GRCm39)	G227S	possibly damaging	Het
Cbs	T	C	17: 31,844,889 (GRCm39)	D137G	probably damaging	Het
Ccdc136	A	G	6: 29,418,070 (GRCm39)	E846G	probably damaging	Het
Cd6	A	T	19: 10,776,855 (GRCm39)	S57T	probably benign	Het
Col11a2	T	A	17: 34,273,119 (GRCm39)		probably benign	Het
Ctsj	T	C	13: 61,149,249 (GRCm39)	Y264C	probably damaging	Het
Dennd3	T	A	15: 73,429,463 (GRCm39)	N915K	probably damaging	Het
Dst	T	C	1: 34,228,149 (GRCm39)	L1914P	probably damaging	Het
E2f2	A	T	4: 135,908,595 (GRCm39)		probably null	Het
Edc4	T	C	8: 106,612,478 (GRCm39)	L172P	probably damaging	Het
Epb41l5	A	T	1: 119,570,319 (GRCm39)	L23H	probably damaging	Het
Fbxo2	A	G	4: 148,250,166 (GRCm39)	E232G	probably damaging	Het
Fmn1	A	C	2: 113,271,973 (GRCm39)	N114H	unknown	Het
Foxj1	T	G	11: 116,225,236 (GRCm39)	I44L	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Foxp2	A	T	6: 15,286,711 (GRCm39)	Q67L	possibly damaging	Het
Fuz	C	T	7: 44,549,710 (GRCm39)	P396L	probably damaging	Het
Galntl5	A	T	5: 25,415,353 (GRCm39)	I295L	possibly damaging	Het
Gjd4	T	A	18: 9,280,095 (GRCm39)	T328S	probably benign	Het
Gramd1a	A	T	7: 30,837,606 (GRCm39)		probably benign	Het
Gzmb	T	C	14: 56,496,964 (GRCm39)	Y219C	possibly damaging	Het
Hs3st5	A	T	10: 36,708,917 (GRCm39)	I151F	probably damaging	Het
Hspa12a	T	G	19: 58,793,890 (GRCm39)	T324P	probably damaging	Het
Ighv4-1	A	T	12: 113,912,000 (GRCm39)	D84E	possibly damaging	Het
Il31ra	C	T	13: 112,670,276 (GRCm39)	E371K	probably benign	Het
Imp4	G	T	1: 34,482,473 (GRCm39)	V71L	probably benign	Het
Itgax	A	G	7: 127,747,913 (GRCm39)	T1068A	possibly damaging	Het
Klhl24	C	T	16: 19,936,690 (GRCm39)	R433C	probably damaging	Het
Larp4b	C	A	13: 9,186,819 (GRCm39)	P49Q	possibly damaging	Het
Macc1	T	C	12: 119,414,091 (GRCm39)	S756P	possibly damaging	Het
Mael	A	G	1: 166,029,259 (GRCm39)	V388A	probably benign	Het
Megf6	A	G	4: 154,339,130 (GRCm39)	T556A	probably benign	Het
Mettl6	T	C	14: 31,204,855 (GRCm39)	D189G	probably damaging	Het
Moxd2	C	A	6: 40,860,978 (GRCm39)	C271F	probably damaging	Het
Ncor1	A	T	11: 62,224,672 (GRCm39)	Y863N	probably damaging	Het
Ndst4	C	T	3: 125,231,722 (GRCm39)	A97V	probably damaging	Het
Nherf4	A	G	9: 44,160,676 (GRCm39)	C240R	probably damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup160	A	G	2: 90,533,489 (GRCm39)	D646G	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or1j19	A	G	2: 36,676,938 (GRCm39)	T134A	probably benign	Het
Or1p1	A	C	11: 74,180,169 (GRCm39)	Q232H	probably damaging	Het
Or5c1	T	C	2: 37,222,017 (GRCm39)	L86P	possibly damaging	Het
Or7h8	T	A	9: 20,124,358 (GRCm39)	F238I	probably damaging	Het
Or8k24	A	G	2: 86,216,324 (GRCm39)	V146A	probably benign	Het
Pabpc6	C	T	17: 9,886,937 (GRCm39)	S538N	probably benign	Het
Pcdhga1	C	A	18: 37,796,433 (GRCm39)	A479D	possibly damaging	Het
Pdgfd	A	T	9: 6,333,328 (GRCm39)	D172V	probably benign	Het
Pfpl	A	T	19: 12,405,804 (GRCm39)	E18D	possibly damaging	Het
Pih1d2	T	A	9: 50,532,321 (GRCm39)	D126E	possibly damaging	Het
Ppp1r13b	T	C	12: 111,800,268 (GRCm39)	H626R	probably benign	Het
Ppp6r3	A	T	19: 3,543,974 (GRCm39)	V347D	probably damaging	Het
Ptprj	G	A	2: 90,288,562 (GRCm39)	S801L	probably benign	Het
Rasd2	C	T	8: 75,948,847 (GRCm39)	R258*	probably null	Het
Rfx3	A	T	19: 27,878,207 (GRCm39)	V30E	possibly damaging	Het
Rgs2	A	G	1: 143,877,925 (GRCm39)	S124P	probably damaging	Het
Ros1	A	G	10: 51,927,039 (GRCm39)	F2215L	probably benign	Het
Rph3a	T	C	5: 121,086,880 (GRCm39)	N440S	possibly damaging	Het
Sacs	T	C	14: 61,450,137 (GRCm39)	V4061A	possibly damaging	Het
Scgb1b3	G	A	7: 31,075,051 (GRCm39)	V7M	unknown	Het
Scn7a	T	C	2: 66,514,507 (GRCm39)	D1089G	possibly damaging	Het
Sdk2	C	T	11: 113,714,226 (GRCm39)	R1582Q	probably benign	Het
Sdr16c5	T	C	4: 3,996,200 (GRCm39)	M298V	probably benign	Het
Sebox	A	G	11: 78,395,222 (GRCm39)	D188G	possibly damaging	Het
Serpinf2	A	T	11: 75,323,418 (GRCm39)	F429L	probably damaging	Het
Six4	A	C	12: 73,155,681 (GRCm39)	S429A	probably benign	Het
Slc2a10	A	T	2: 165,357,543 (GRCm39)	H401L	possibly damaging	Het
Ssbp2	T	C	13: 91,842,141 (GRCm39)	S321P	probably damaging	Het
Syne2	A	G	12: 75,937,158 (GRCm39)	E252G	probably damaging	Het
Synj2	T	C	17: 6,084,172 (GRCm39)	I1178T	probably damaging	Het
Tafa5	T	C	15: 87,428,775 (GRCm39)	I28T	probably benign	Het
Tbc1d10a	G	T	11: 4,136,835 (GRCm39)	R16L	unknown	Het
Tmem132b	C	A	5: 125,864,167 (GRCm39)	Q758K	probably damaging	Het
Tnrc6a	T	G	7: 122,785,667 (GRCm39)		probably benign	Het
Tril	A	G	6: 53,795,137 (GRCm39)	L695P	probably damaging	Het
Tspan3	A	T	9: 56,043,960 (GRCm39)	Y243*	probably null	Het
Ufl1	A	T	4: 25,278,712 (GRCm39)		probably benign	Het
Utp4	A	T	8: 107,621,310 (GRCm39)	N29I	possibly damaging	Het
Vmn1r176	C	T	7: 23,534,785 (GRCm39)	G123S	probably benign	Het
Vmn1r225	T	A	17: 20,722,577 (GRCm39)	M6K	possibly damaging	Het
Vmn1r229	T	C	17: 21,034,758 (GRCm39)	M1T	probably null	Het
Vmn2r80	A	T	10: 79,030,687 (GRCm39)	I838F	probably damaging	Het
Vmn2r98	T	A	17: 19,286,383 (GRCm39)	W294R	probably benign	Het
Wnk1	A	G	6: 119,925,631 (GRCm39)	S1527P	unknown	Het
Zdhhc17	A	T	10: 110,785,503 (GRCm39)	S436R	possibly damaging	Het
Zfp12	T	C	5: 143,230,389 (GRCm39)	S271P	probably damaging	Het
Zfp330	T	C	8: 83,491,063 (GRCm39)	Y249C		Het
Zfp444	A	G	7: 6,192,678 (GRCm39)	H232R	probably damaging	Het

Other mutations in Ptpra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:Ptpra	APN	2	130,386,359 (GRCm39)	missense	probably damaging	1.00
IGL01734:Ptpra	APN	2	130,385,997 (GRCm39)	missense	probably damaging	1.00
IGL02066:Ptpra	APN	2	30,333,308 (GRCm39)	missense	possibly damaging	0.83
IGL02073:Ptpra	APN	2	30,333,362 (GRCm39)	missense	probably damaging	1.00
IGL02201:Ptpra	APN	2	30,336,389 (GRCm39)	missense	possibly damaging	0.91
IGL02218:Ptpra	APN	2	130,394,255 (GRCm39)	splice site	probably benign
IGL02385:Ptpra	APN	2	130,382,393 (GRCm39)	unclassified	probably benign
IGL02480:Ptpra	APN	2	130,346,181 (GRCm39)	missense	probably benign	0.09
IGL03181:Ptpra	APN	2	130,359,707 (GRCm39)	missense	probably damaging	0.99
R0374:Ptpra	UTSW	2	130,379,541 (GRCm39)	missense	probably damaging	1.00
R0483:Ptpra	UTSW	2	130,381,605 (GRCm39)	missense	probably damaging	1.00
R0848:Ptpra	UTSW	2	130,360,911 (GRCm39)	missense	probably damaging	1.00
R1550:Ptpra	UTSW	2	130,383,313 (GRCm39)	missense	possibly damaging	0.86
R1596:Ptpra	UTSW	2	130,386,872 (GRCm39)	missense	probably damaging	1.00
R1602:Ptpra	UTSW	2	30,327,602 (GRCm39)	missense	probably benign	0.22
R1689:Ptpra	UTSW	2	130,345,412 (GRCm39)	missense	probably benign	0.01
R1760:Ptpra	UTSW	2	130,391,747 (GRCm39)	missense	probably damaging	1.00
R1943:Ptpra	UTSW	2	130,386,024 (GRCm39)	missense	probably damaging	1.00
R2114:Ptpra	UTSW	2	130,381,655 (GRCm39)	missense	probably damaging	1.00
R2115:Ptpra	UTSW	2	130,381,655 (GRCm39)	missense	probably damaging	1.00
R2117:Ptpra	UTSW	2	130,381,655 (GRCm39)	missense	probably damaging	1.00
R2187:Ptpra	UTSW	2	130,346,219 (GRCm39)	missense	probably benign
R2848:Ptpra	UTSW	2	130,386,919 (GRCm39)	missense	probably benign	0.06
R2849:Ptpra	UTSW	2	130,386,919 (GRCm39)	missense	probably benign	0.06
R3962:Ptpra	UTSW	2	30,325,672 (GRCm39)	missense	probably damaging	1.00
R4080:Ptpra	UTSW	2	30,333,317 (GRCm39)	missense	probably damaging	1.00
R4644:Ptpra	UTSW	2	130,386,078 (GRCm39)	missense	probably damaging	1.00
R4779:Ptpra	UTSW	2	130,379,537 (GRCm39)	missense	probably damaging	1.00
R4849:Ptpra	UTSW	2	130,374,081 (GRCm39)	missense	probably damaging	1.00
R4899:Ptpra	UTSW	2	130,386,356 (GRCm39)	missense	probably damaging	1.00
R5186:Ptpra	UTSW	2	30,328,367 (GRCm39)	critical splice donor site	probably null
R5657:Ptpra	UTSW	2	130,346,204 (GRCm39)	missense	probably benign	0.06
R6018:Ptpra	UTSW	2	130,345,422 (GRCm39)	missense	probably benign
R6234:Ptpra	UTSW	2	130,379,508 (GRCm39)	missense	probably damaging	1.00
R6350:Ptpra	UTSW	2	130,382,512 (GRCm39)	missense	probably damaging	1.00
R6622:Ptpra	UTSW	2	30,327,589 (GRCm39)	missense	probably damaging	1.00
R6856:Ptpra	UTSW	2	130,361,301 (GRCm39)	missense	probably damaging	1.00
R7072:Ptpra	UTSW	2	130,395,350 (GRCm39)	missense	probably damaging	1.00
R7146:Ptpra	UTSW	2	130,379,571 (GRCm39)	critical splice donor site	probably null
R7220:Ptpra	UTSW	2	130,386,417 (GRCm39)	missense	probably damaging	1.00
R7346:Ptpra	UTSW	2	130,395,320 (GRCm39)	missense	probably damaging	1.00
R7819:Ptpra	UTSW	2	130,346,126 (GRCm39)	missense	probably benign
R7943:Ptpra	UTSW	2	30,322,056 (GRCm39)	missense	probably damaging	1.00
R8044:Ptpra	UTSW	2	130,386,881 (GRCm39)	missense	possibly damaging	0.93
R8190:Ptpra	UTSW	2	30,328,351 (GRCm39)	missense	probably damaging	1.00
R8231:Ptpra	UTSW	2	130,379,523 (GRCm39)	missense	probably damaging	1.00
R8404:Ptpra	UTSW	2	130,391,679 (GRCm39)	missense	probably damaging	1.00
R8422:Ptpra	UTSW	2	130,374,091 (GRCm39)	missense	possibly damaging	0.86
R8502:Ptpra	UTSW	2	130,391,679 (GRCm39)	missense	probably damaging	1.00
R8683:Ptpra	UTSW	2	130,394,187 (GRCm39)	missense	possibly damaging	0.88
R8952:Ptpra	UTSW	2	130,386,969 (GRCm39)	missense	probably damaging	1.00
R9147:Ptpra	UTSW	2	30,328,256 (GRCm39)	missense	probably benign	0.21
R9148:Ptpra	UTSW	2	30,328,256 (GRCm39)	missense	probably benign	0.21
R9148:Ptpra	UTSW	2	30,328,255 (GRCm39)	missense	probably damaging	1.00
R9717:Ptpra	UTSW	2	130,384,366 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ATGACACTGAGCCTGGTCTC -3'
(R):5'- GGTCTAATGTCCTGCTCAACAAG -3'

Sequencing Primer
(F):5'- ACTGAGCCTGGTCTCCATGTG -3'
(R):5'- AACAAGCTGTCATTGTGTGTCC -3'

Posted On

2022-01-20