Mutagenetix > Incidental Mutation

Incidental Mutation 'R0488:Ptprg'

42429

Institutional Source

Beutler Lab

Gene Symbol

Ptprg

Ensembl Gene

ENSMUSG00000021745

Gene Name

protein tyrosine phosphatase receptor type G

Synonyms

RPTPgamma, 5430405N12Rik

MMRRC Submission

038687-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0488 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

10227722-10916220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12220653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 455 (D455V)

Ref Sequence

ENSEMBL: ENSMUSP00000113679 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022264] [ENSMUST00000119888] [ENSMUST00000142917]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022264
AA Change: D1230V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022264
Gene: ENSMUSG00000021745
AA Change: D1230V

Domain	Start	End	E-Value	Type
Carb_anhydrase	60	321	6.38e-109	SMART
FN3	347	433	5.4e-7	SMART
low complexity region	474	484	N/A	INTRINSIC
low complexity region	515	525	N/A	INTRINSIC
coiled coil region	581	617	N/A	INTRINSIC
transmembrane domain	734	756	N/A	INTRINSIC
PTPc	844	1118	1.76e-136	SMART
PTPc	1146	1409	1.32e-85	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119888
AA Change: D455V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113679
Gene: ENSMUSG00000021745
AA Change: D455V

Domain	Start	End	E-Value	Type
PTPc	69	343	1.76e-136	SMART
PTPc	371	634	1.32e-85	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134290

Predicted Effect

probably benign
Transcript: ENSMUST00000142917

SMART Domains

Protein: ENSMUSP00000121268
Gene: ENSMUSG00000021745

Domain	Start	End	E-Value	Type
Carb_anhydrase	60	260	1.6e-50	SMART

Meta Mutation Damage Score

0.9663

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (54/54)

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 intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this PTP contains a carbonic anhydrase-like (CAH) domain, which is also found in the extracellular region of PTPRBETA/ZETA. This gene is located in a chromosomal region that is frequently deleted in renal cell carcinoma and lung carcinoma, thus is thought to be a candidate tumor suppressor gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are overtly normal but exhibit minor behavioral changes including specific motor deficits, reduced latency to react in the tail flick test, enhanced sensory processing for acoustic stimuli, and reduced performance with cued fear conditioning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	G	11: 46,029,757 (GRCm39)	L734R	probably damaging	Het
Adgrf1	T	C	17: 43,621,302 (GRCm39)	I513T	probably damaging	Het
Adgrl2	A	G	3: 148,552,541 (GRCm39)	V654A	probably damaging	Het
Agl	A	T	3: 116,548,611 (GRCm39)	Y1249*	probably null	Het
Ankar	T	A	1: 72,697,891 (GRCm39)	Q996H	probably damaging	Het
Aqp12	T	C	1: 92,936,378 (GRCm39)	Y235H	probably damaging	Het
Arsb	T	C	13: 94,077,013 (GRCm39)	V460A	probably benign	Het
Baiap3	A	G	17: 25,467,444 (GRCm39)		probably null	Het
Cd44	T	C	2: 102,664,564 (GRCm39)		probably benign	Het
Clec4b1	T	A	6: 123,048,441 (GRCm39)	I192N	probably damaging	Het
Cplane2	A	G	4: 140,941,712 (GRCm39)	D14G	probably benign	Het
Cps1	A	C	1: 67,187,967 (GRCm39)		probably benign	Het
Dab2	T	C	15: 6,454,135 (GRCm39)	L215S	probably damaging	Het
E2f4	G	A	8: 106,025,171 (GRCm39)	V84I	probably damaging	Het
Edem2	T	C	2: 155,558,043 (GRCm39)	T197A	probably damaging	Het
Eno2	T	A	6: 124,740,837 (GRCm39)	M121L	probably benign	Het
Ephb1	A	G	9: 101,841,207 (GRCm39)	V757A	probably damaging	Het
Etv5	T	A	16: 22,231,695 (GRCm39)	I106F	probably damaging	Het
Foxj3	T	A	4: 119,477,187 (GRCm39)	Y298*	probably null	Het
Gm12185	A	G	11: 48,798,666 (GRCm39)	L609S	probably damaging	Het
Gm5884	T	C	6: 128,623,031 (GRCm39)		noncoding transcript	Het
Havcr1	A	G	11: 46,643,398 (GRCm39)	Y106C	probably damaging	Het
Jmjd1c	A	G	10: 67,076,506 (GRCm39)	N2110S	probably damaging	Het
Kif2b	T	C	11: 91,467,798 (GRCm39)	K162E	probably benign	Het
Micu2	T	C	14: 58,169,699 (GRCm39)	Y217C	probably benign	Het
Mink1	G	T	11: 70,488,030 (GRCm39)	G32C	probably damaging	Het
Mnat1	T	A	12: 73,217,413 (GRCm39)	N96K	probably damaging	Het
Mpp2	G	T	11: 101,952,427 (GRCm39)	R349S	possibly damaging	Het
Mrpl13	T	A	15: 55,402,544 (GRCm39)	I59F	probably benign	Het
Mybl2	T	C	2: 162,914,534 (GRCm39)		probably benign	Het
Otogl	T	C	10: 107,639,466 (GRCm39)	E1382G	probably benign	Het
Pclo	A	G	5: 14,719,313 (GRCm39)	E1150G	unknown	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 110,350,295 (GRCm39)	S380N	probably benign	Het
Pla2g4a	G	A	1: 149,747,196 (GRCm39)	T322M	probably damaging	Het
Pramel11	A	T	4: 143,621,973 (GRCm39)	Y461N	probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Ptprt	T	C	2: 161,395,745 (GRCm39)	T1162A	probably damaging	Het
Rad51ap1	T	C	6: 126,911,723 (GRCm39)	N55D	possibly damaging	Het
Rc3h2	T	C	2: 37,279,600 (GRCm39)	E543G	probably damaging	Het
Rimklb	G	A	6: 122,437,934 (GRCm39)	T103I	probably benign	Het
Samd4b	T	C	7: 28,113,662 (GRCm39)	Y101C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tubgcp5	T	A	7: 55,479,086 (GRCm39)	S979T	probably damaging	Het
Vmn2r93	G	A	17: 18,546,311 (GRCm39)	E728K	probably damaging	Het
Wdr17	T	C	8: 55,146,087 (GRCm39)		probably benign	Het
Wdr90	T	C	17: 26,067,591 (GRCm39)	Y1457C	probably damaging	Het
Wsb1	T	C	11: 79,135,326 (GRCm39)	D225G	probably damaging	Het
Xirp2	T	C	2: 67,345,165 (GRCm39)	S2469P	possibly damaging	Het
Zeb1	T	A	18: 5,772,455 (GRCm39)	C915S	probably damaging	Het
Znfx1	C	A	2: 166,884,483 (GRCm39)	R923L	possibly damaging	Het

Other mutations in Ptprg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Ptprg	APN	14	12,215,992 (GRCm38)	missense	probably damaging	1.00
IGL00484:Ptprg	APN	14	12,215,220 (GRCm38)	missense	probably damaging	0.99
IGL00847:Ptprg	APN	14	12,215,265 (GRCm38)	missense	probably damaging	1.00
IGL01089:Ptprg	APN	14	12,215,286 (GRCm38)	missense	probably damaging	0.97
IGL01382:Ptprg	APN	14	12,237,797 (GRCm38)	missense	probably benign	0.16
IGL01470:Ptprg	APN	14	12,213,702 (GRCm38)	nonsense	probably null
IGL01762:Ptprg	APN	14	12,037,386 (GRCm38)	missense	probably benign	0.00
IGL01886:Ptprg	APN	14	12,179,280 (GRCm38)	missense	probably benign	0.22
IGL01963:Ptprg	APN	14	12,220,661 (GRCm38)	missense	probably damaging	1.00
IGL02015:Ptprg	APN	14	12,237,782 (GRCm38)	missense	possibly damaging	0.46
IGL02086:Ptprg	APN	14	12,110,080 (GRCm38)	nonsense	probably null
IGL02197:Ptprg	APN	14	12,220,613 (GRCm38)	missense	probably damaging	0.98
IGL02341:Ptprg	APN	14	12,154,360 (GRCm38)	missense	probably benign	0.00
IGL02732:Ptprg	APN	14	12,225,617 (GRCm38)	critical splice donor site	probably null
IGL03011:Ptprg	APN	14	12,219,029 (GRCm38)	missense	probably damaging	1.00
IGL03261:Ptprg	APN	14	12,225,552 (GRCm38)	missense	probably damaging	0.99
R0038:Ptprg	UTSW	14	12,213,710 (GRCm38)	missense	probably damaging	1.00
R0383:Ptprg	UTSW	14	12,219,024 (GRCm38)	missense	possibly damaging	0.93
R0433:Ptprg	UTSW	14	12,220,620 (GRCm38)	missense	probably damaging	1.00
R0503:Ptprg	UTSW	14	12,237,138 (GRCm38)	missense	possibly damaging	0.89
R0520:Ptprg	UTSW	14	12,199,783 (GRCm38)	missense	possibly damaging	0.92
R0570:Ptprg	UTSW	14	12,215,896 (GRCm38)	missense	probably damaging	1.00
R0606:Ptprg	UTSW	14	12,154,131 (GRCm38)	missense	probably benign
R1086:Ptprg	UTSW	14	11,952,706 (GRCm38)	splice site	probably benign
R1468:Ptprg	UTSW	14	12,190,767 (GRCm38)	missense	probably benign	0.02
R1468:Ptprg	UTSW	14	12,190,767 (GRCm38)	missense	probably benign	0.02
R1519:Ptprg	UTSW	14	12,220,596 (GRCm38)	missense	probably damaging	1.00
R1662:Ptprg	UTSW	14	12,207,357 (GRCm38)	missense	probably damaging	1.00
R1714:Ptprg	UTSW	14	12,213,697 (GRCm38)	missense	probably damaging	1.00
R1716:Ptprg	UTSW	14	12,154,360 (GRCm38)	missense	probably benign	0.00
R1797:Ptprg	UTSW	14	12,199,743 (GRCm38)	missense	probably damaging	1.00
R1803:Ptprg	UTSW	14	12,091,410 (GRCm38)	splice site	probably null
R2104:Ptprg	UTSW	14	11,952,897 (GRCm38)	critical splice donor site	probably null
R2125:Ptprg	UTSW	14	12,179,283 (GRCm38)	missense	possibly damaging	0.74
R2126:Ptprg	UTSW	14	12,154,355 (GRCm38)	missense	probably benign
R2133:Ptprg	UTSW	14	12,211,637 (GRCm38)	missense	probably damaging	1.00
R2471:Ptprg	UTSW	14	12,210,327 (GRCm38)	missense	probably damaging	1.00
R2571:Ptprg	UTSW	14	12,122,135 (GRCm38)	missense	probably benign
R3821:Ptprg	UTSW	14	12,226,375 (GRCm38)	missense	probably benign	0.00
R4196:Ptprg	UTSW	14	12,122,002 (GRCm38)	missense	possibly damaging	0.51
R4392:Ptprg	UTSW	14	12,142,467 (GRCm38)	missense	possibly damaging	0.80
R4665:Ptprg	UTSW	14	12,215,288 (GRCm38)	missense	possibly damaging	0.90
R4730:Ptprg	UTSW	14	12,213,713 (GRCm38)	missense	probably damaging	1.00
R4737:Ptprg	UTSW	14	12,226,314 (GRCm38)	missense	probably damaging	1.00
R4764:Ptprg	UTSW	14	12,122,068 (GRCm38)	missense	probably benign	0.01
R4801:Ptprg	UTSW	14	11,554,233 (GRCm38)	utr 5 prime	probably benign
R4825:Ptprg	UTSW	14	12,220,654 (GRCm38)	missense	probably damaging	1.00
R4960:Ptprg	UTSW	14	12,237,837 (GRCm38)	missense	probably benign	0.07
R4972:Ptprg	UTSW	14	12,226,427 (GRCm38)	missense	possibly damaging	0.94
R4980:Ptprg	UTSW	14	12,154,421 (GRCm38)	missense	probably benign	0.16
R5004:Ptprg	UTSW	14	12,220,667 (GRCm38)	missense	probably damaging	1.00
R5058:Ptprg	UTSW	14	12,037,387 (GRCm38)	missense	possibly damaging	0.82
R5182:Ptprg	UTSW	14	12,154,174 (GRCm38)	missense	probably benign
R5258:Ptprg	UTSW	14	12,142,431 (GRCm38)	missense	probably benign	0.11
R5338:Ptprg	UTSW	14	12,154,111 (GRCm38)	missense	probably benign
R5353:Ptprg	UTSW	14	11,554,235 (GRCm38)	utr 5 prime	probably benign
R5373:Ptprg	UTSW	14	12,213,665 (GRCm38)	missense	probably benign	0.00
R5387:Ptprg	UTSW	14	12,153,873 (GRCm38)	missense	probably damaging	1.00
R5616:Ptprg	UTSW	14	12,122,120 (GRCm38)	missense	probably benign
R5623:Ptprg	UTSW	14	12,153,857 (GRCm38)	missense	probably damaging	1.00
R5976:Ptprg	UTSW	14	12,211,625 (GRCm38)	missense	probably damaging	0.96
R6027:Ptprg	UTSW	14	12,220,613 (GRCm38)	missense	possibly damaging	0.87
R6091:Ptprg	UTSW	14	12,215,979 (GRCm38)	missense	probably damaging	1.00
R6184:Ptprg	UTSW	14	12,153,943 (GRCm38)	missense	probably benign	0.00
R6234:Ptprg	UTSW	14	12,213,747 (GRCm38)	missense	probably damaging	1.00
R6318:Ptprg	UTSW	14	12,237,118 (GRCm38)	missense	probably damaging	1.00
R6324:Ptprg	UTSW	14	12,226,314 (GRCm38)	missense	probably damaging	1.00
R6334:Ptprg	UTSW	14	12,166,832 (GRCm38)	missense	probably damaging	1.00
R6646:Ptprg	UTSW	14	11,962,714 (GRCm38)	missense	probably damaging	1.00
R6647:Ptprg	UTSW	14	11,962,714 (GRCm38)	missense	probably damaging	1.00
R6992:Ptprg	UTSW	14	11,962,602 (GRCm38)	missense	probably damaging	1.00
R7088:Ptprg	UTSW	14	12,207,365 (GRCm38)	missense	probably damaging	1.00
R7250:Ptprg	UTSW	14	12,166,767 (GRCm38)	missense	probably benign	0.18
R7342:Ptprg	UTSW	14	12,237,151 (GRCm38)	missense	possibly damaging	0.90
R7358:Ptprg	UTSW	14	12,154,198 (GRCm38)	missense	possibly damaging	0.59
R7410:Ptprg	UTSW	14	11,962,657 (GRCm38)	missense	probably damaging	1.00
R7448:Ptprg	UTSW	14	12,142,461 (GRCm38)	missense	probably benign	0.12
R7514:Ptprg	UTSW	14	12,179,342 (GRCm38)	missense	possibly damaging	0.86
R7523:Ptprg	UTSW	14	12,237,130 (GRCm38)	missense	probably damaging	0.97
R7672:Ptprg	UTSW	14	12,211,668 (GRCm38)	missense	probably benign	0.04
R7709:Ptprg	UTSW	14	12,226,452 (GRCm38)	missense	probably damaging	1.00
R7720:Ptprg	UTSW	14	12,211,703 (GRCm38)	missense	probably benign	0.31
R8860:Ptprg	UTSW	14	12,213,685 (GRCm38)	missense	probably damaging	1.00
R8992:Ptprg	UTSW	14	12,154,170 (GRCm38)	missense	probably benign	0.00
R9054:Ptprg	UTSW	14	12,213,638 (GRCm38)	missense	possibly damaging	0.58
R9587:Ptprg	UTSW	14	12,215,992 (GRCm38)	missense	probably damaging	1.00
R9621:Ptprg	UTSW	14	12,237,809 (GRCm38)	missense	probably benign
R9625:Ptprg	UTSW	14	12,152,027 (GRCm38)	missense	probably damaging	1.00
R9773:Ptprg	UTSW	14	12,199,806 (GRCm38)	missense	probably damaging	0.97
X0020:Ptprg	UTSW	14	12,110,070 (GRCm38)	frame shift	probably null
X0027:Ptprg	UTSW	14	12,110,070 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGCACAGTGCTCACAGAAGTACAAC -3'
(R):5'- ACAGCATTTAGGAAAACAGCCTCCG -3'

Sequencing Primer
(F):5'- GCAAATGCACTGAATGCCTTTC -3'
(R):5'- TCCGTAGCATACACAGGCTC -3'

Posted On

2013-05-23