Mutagenetix > Incidental Mutations

Incidental Mutation 'R0606:Ptprg'

216257

Institutional Source

Beutler Lab

Gene Symbol

Ptprg

Ensembl Gene

ENSMUSG00000021745

Gene Name

protein tyrosine phosphatase, receptor type, G

Synonyms

5430405N12Rik, RPTPgamma

MMRRC Submission

038795-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0606 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

11553532-12242041 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12154131 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 617 (S617R)

Ref Sequence

ENSEMBL: ENSMUSP00000022264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022264] [ENSMUST00000142917] [ENSMUST00000226099]

Predicted Effect

probably benign
Transcript: ENSMUST00000022264
AA Change: S617R

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

SMART Domains

Protein: ENSMUSP00000022264
Gene: ENSMUSG00000021745
AA Change: S617R

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 benign
Transcript: ENSMUST00000142917

SMART Domains

Protein: ENSMUSP00000121268
Gene: ENSMUSG00000021745

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225204

Predicted Effect

unknown
Transcript: ENSMUST00000226099
AA Change: V50E

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,259,089	Y128H	probably damaging	Het
Actl9	T	C	17: 33,433,598	Y211H	probably damaging	Het
Actn1	A	T	12: 80,174,647		probably benign	Het
Adtrp	A	G	13: 41,767,405	F197L	probably damaging	Het
Ankrd11	G	A	8: 122,892,832	T1406I	probably benign	Het
Arhgap24	A	T	5: 102,897,220	R620W	probably damaging	Het
Atg13	A	G	2: 91,682,073	Y284H	probably benign	Het
Atrn	A	G	2: 130,906,856	E99G	possibly damaging	Het
Cage1	A	T	13: 38,016,494		probably benign	Het
Ccr3	T	A	9: 124,028,802	M58K	probably benign	Het
Cdk18	G	T	1: 132,117,617		probably benign	Het
Chst5	A	G	8: 111,890,919	V23A	probably benign	Het
Col4a3	T	C	1: 82,672,586		probably benign	Het
Col4a6	A	G	X: 141,192,223		probably benign	Het
Csmd3	T	C	15: 48,457,662	I251V	probably benign	Het
Csnk1g3	G	A	18: 53,917,028	V115M	probably damaging	Het
Cst7	A	T	2: 150,570,519	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,527,843	D373V	probably damaging	Het
Dclk2	G	A	3: 86,906,004	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,830,746		probably benign	Het
Dhx58	T	A	11: 100,702,251	H210L	probably benign	Het
Dnah9	T	C	11: 65,841,333	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,048,893	L990H	probably damaging	Het
Faap24	T	C	7: 35,394,963		probably benign	Het
Fryl	T	A	5: 73,124,734	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696	W15R	probably benign	Het
Gif	A	T	19: 11,752,294	I206F	possibly damaging	Het
Gm15446	T	C	5: 109,943,481	V533A	probably benign	Het
Gm6760	T	A	X: 64,151,653	K63*	probably null	Het
Gne	C	T	4: 44,042,244	E444K	possibly damaging	Het
Gpr173	T	A	X: 152,347,040	M146L	possibly damaging	Het
Hira	C	T	16: 18,935,047	S547L	probably benign	Het
Hnf1b	A	G	11: 83,863,984	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,658,390	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,832,588	I40F	probably benign	Het
Hydin	C	T	8: 110,549,798		probably benign	Het
Ift172	A	G	5: 31,254,313	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,959,901	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,504,272	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,261		probably benign	Het
Itgb1	A	T	8: 128,722,372		probably benign	Het
Kctd21	G	A	7: 97,347,601	E94K	probably benign	Het
Kir3dl2	A	G	X: 136,453,511	V233A	possibly damaging	Het
Klra2	A	T	6: 131,220,224	C271S	probably damaging	Het
Lacc1	A	T	14: 77,029,621	C401S	probably damaging	Het
Lmna	T	C	3: 88,482,578	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,150	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,391,389	R116*	probably null	Het
Ndrg2	G	T	14: 51,906,217	R333S	probably damaging	Het
Nf2	A	G	11: 4,782,194	I507T	possibly damaging	Het
Nktr	A	G	9: 121,749,290		probably benign	Het
Nkx3-1	G	A	14: 69,191,006		probably benign	Het
Npat	T	C	9: 53,556,481		probably null	Het
Nrxn1	T	C	17: 90,565,373	N1047S	probably damaging	Het
Nup210	A	T	6: 91,026,929	I1402N	possibly damaging	Het
Olfr1168	G	T	2: 88,185,280	M134I	possibly damaging	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pdcl2	C	T	5: 76,312,481	S182N	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,840,704	F669L	probably benign	Het
Plekha8	A	G	6: 54,629,820	K367E	probably damaging	Het
Pola1	A	G	X: 93,488,087		probably benign	Het
Ppm1d	C	T	11: 85,345,877	T494I	probably benign	Het
Pramef25	T	A	4: 143,949,883	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,314,194		probably benign	Het
R3hdm2	G	A	10: 127,444,444	G45D	probably damaging	Het
Rev1	T	A	1: 38,059,123	R780W	probably null	Het
Rnf139	T	A	15: 58,899,827	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,514,348	V71A	probably damaging	Het
Shtn1	A	G	19: 58,999,940	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,088,723	H221L	probably benign	Het
Smo	A	C	6: 29,753,604	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,179,300		probably benign	Het
Snf8	G	T	11: 96,034,973		probably benign	Het
Spata31d1a	T	C	13: 59,702,431	S628G	probably benign	Het
Sphkap	A	T	1: 83,280,424	D199E	probably damaging	Het
Stxbp5l	T	C	16: 37,204,521	T572A	possibly damaging	Het
Thada	C	A	17: 84,416,303	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756	Q735R	probably benign	Het
Tmem29	C	T	X: 150,398,364	A144T	probably benign	Het
Trim24	G	A	6: 37,871,234	E42K	probably benign	Het
Trnt1	T	A	6: 106,777,908		probably benign	Het
Ttbk2	A	T	2: 120,773,872	M215K	probably damaging	Het
Ttc8	C	T	12: 98,943,459		probably benign	Het
Ube3c	A	G	5: 29,590,928	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,530,983		probably benign	Het
Usp36	A	G	11: 118,263,028		probably benign	Het
Vmn2r102	T	C	17: 19,678,844	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,588,130	T432A	probably damaging	Het
Wnk1	G	T	6: 119,926,683	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,638,208		probably benign	Het
Zar1	G	T	5: 72,580,543	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,423,610	Y154H	probably benign	Het
Zer1	G	T	2: 30,104,797		probably benign	Het
Zfp454	A	G	11: 50,874,185	F140S	probably benign	Het

Other mutations in Ptprg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Ptprg	APN	14	12215992	missense	probably damaging	1.00
IGL00484:Ptprg	APN	14	12215220	missense	probably damaging	0.99
IGL00847:Ptprg	APN	14	12215265	missense	probably damaging	1.00
IGL01089:Ptprg	APN	14	12215286	missense	probably damaging	0.97
IGL01382:Ptprg	APN	14	12237797	missense	probably benign	0.16
IGL01470:Ptprg	APN	14	12213702	nonsense	probably null
IGL01762:Ptprg	APN	14	12037386	missense	probably benign	0.00
IGL01886:Ptprg	APN	14	12179280	missense	probably benign	0.22
IGL01963:Ptprg	APN	14	12220661	missense	probably damaging	1.00
IGL02015:Ptprg	APN	14	12237782	missense	possibly damaging	0.46
IGL02086:Ptprg	APN	14	12110080	nonsense	probably null
IGL02197:Ptprg	APN	14	12220613	missense	probably damaging	0.98
IGL02341:Ptprg	APN	14	12154360	missense	probably benign	0.00
IGL02732:Ptprg	APN	14	12225617	critical splice donor site	probably null
IGL03011:Ptprg	APN	14	12219029	missense	probably damaging	1.00
IGL03261:Ptprg	APN	14	12225552	missense	probably damaging	0.99
R0038:Ptprg	UTSW	14	12213710	missense	probably damaging	1.00
R0383:Ptprg	UTSW	14	12219024	missense	possibly damaging	0.93
R0433:Ptprg	UTSW	14	12220620	missense	probably damaging	1.00
R0488:Ptprg	UTSW	14	12220653	missense	probably damaging	1.00
R0503:Ptprg	UTSW	14	12237138	missense	possibly damaging	0.89
R0520:Ptprg	UTSW	14	12199783	missense	possibly damaging	0.92
R0570:Ptprg	UTSW	14	12215896	missense	probably damaging	1.00
R1086:Ptprg	UTSW	14	11952706	splice site	probably benign
R1468:Ptprg	UTSW	14	12190767	missense	probably benign	0.02
R1468:Ptprg	UTSW	14	12190767	missense	probably benign	0.02
R1519:Ptprg	UTSW	14	12220596	missense	probably damaging	1.00
R1662:Ptprg	UTSW	14	12207357	missense	probably damaging	1.00
R1714:Ptprg	UTSW	14	12213697	missense	probably damaging	1.00
R1716:Ptprg	UTSW	14	12154360	missense	probably benign	0.00
R1797:Ptprg	UTSW	14	12199743	missense	probably damaging	1.00
R1803:Ptprg	UTSW	14	12091410	splice site	probably null
R2104:Ptprg	UTSW	14	11952897	critical splice donor site	probably null
R2125:Ptprg	UTSW	14	12179283	missense	possibly damaging	0.74
R2126:Ptprg	UTSW	14	12154355	missense	probably benign
R2133:Ptprg	UTSW	14	12211637	missense	probably damaging	1.00
R2471:Ptprg	UTSW	14	12210327	missense	probably damaging	1.00
R2571:Ptprg	UTSW	14	12122135	missense	probably benign
R3821:Ptprg	UTSW	14	12226375	missense	probably benign	0.00
R4196:Ptprg	UTSW	14	12122002	missense	possibly damaging	0.51
R4392:Ptprg	UTSW	14	12142467	missense	possibly damaging	0.80
R4665:Ptprg	UTSW	14	12215288	missense	possibly damaging	0.90
R4730:Ptprg	UTSW	14	12213713	missense	probably damaging	1.00
R4737:Ptprg	UTSW	14	12226314	missense	probably damaging	1.00
R4764:Ptprg	UTSW	14	12122068	missense	probably benign	0.01
R4801:Ptprg	UTSW	14	11554233	utr 5 prime	probably benign
R4825:Ptprg	UTSW	14	12220654	missense	probably damaging	1.00
R4960:Ptprg	UTSW	14	12237837	missense	probably benign	0.07
R4972:Ptprg	UTSW	14	12226427	missense	possibly damaging	0.94
R4980:Ptprg	UTSW	14	12154421	missense	probably benign	0.16
R5004:Ptprg	UTSW	14	12220667	missense	probably damaging	1.00
R5058:Ptprg	UTSW	14	12037387	missense	possibly damaging	0.82
R5182:Ptprg	UTSW	14	12154174	missense	probably benign
R5258:Ptprg	UTSW	14	12142431	missense	probably benign	0.11
R5338:Ptprg	UTSW	14	12154111	missense	probably benign
R5353:Ptprg	UTSW	14	11554235	utr 5 prime	probably benign
R5373:Ptprg	UTSW	14	12213665	missense	probably benign	0.00
R5387:Ptprg	UTSW	14	12153873	missense	probably damaging	1.00
R5616:Ptprg	UTSW	14	12122120	missense	probably benign
R5623:Ptprg	UTSW	14	12153857	missense	probably damaging	1.00
R5976:Ptprg	UTSW	14	12211625	missense	probably damaging	0.96
R6027:Ptprg	UTSW	14	12220613	missense	possibly damaging	0.87
R6091:Ptprg	UTSW	14	12215979	missense	probably damaging	1.00
R6184:Ptprg	UTSW	14	12153943	missense	probably benign	0.00
R6234:Ptprg	UTSW	14	12213747	missense	probably damaging	1.00
R6318:Ptprg	UTSW	14	12237118	missense	probably damaging	1.00
R6324:Ptprg	UTSW	14	12226314	missense	probably damaging	1.00
R6334:Ptprg	UTSW	14	12166832	missense	probably damaging	1.00
R6646:Ptprg	UTSW	14	11962714	missense	probably damaging	1.00
R6647:Ptprg	UTSW	14	11962714	missense	probably damaging	1.00
R6992:Ptprg	UTSW	14	11962602	missense	probably damaging	1.00
R7088:Ptprg	UTSW	14	12207365	missense	probably damaging	1.00
R7250:Ptprg	UTSW	14	12166767	missense	probably benign	0.18
R7342:Ptprg	UTSW	14	12237151	missense	possibly damaging	0.90
R7358:Ptprg	UTSW	14	12154198	missense	possibly damaging	0.59
R7410:Ptprg	UTSW	14	11962657	missense	probably damaging	1.00
R7448:Ptprg	UTSW	14	12142461	missense	probably benign	0.12
R7514:Ptprg	UTSW	14	12179342	missense	possibly damaging	0.86
R7523:Ptprg	UTSW	14	12237130	missense	probably damaging	0.97
R7672:Ptprg	UTSW	14	12211668	missense	probably benign	0.04
R7709:Ptprg	UTSW	14	12226452	missense	probably damaging	1.00
R7720:Ptprg	UTSW	14	12211703	missense	probably benign	0.31
X0020:Ptprg	UTSW	14	12110070	frame shift	probably null
X0027:Ptprg	UTSW	14	12110070	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGAGGACAGTTCTTGCCACCAC -3'
(R):5'- AATCGGTCCCCTCGGGACATAG -3'

Sequencing Primer
(F):5'- agagaaggaggagaaaagcg -3'
(R):5'- CTGGGATCACTCCCTGAATAATG -3'

Posted On

2014-07-31