Mutagenetix > Incidental Mutation

Incidental Mutation 'R9625:Ptprg'

725110

Institutional Source

Beutler Lab

Gene Symbol

Ptprg

Ensembl Gene

ENSMUSG00000021745

Gene Name

protein tyrosine phosphatase receptor type G

Synonyms

RPTPgamma, 5430405N12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9625 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10227722-10916220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12152027 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 447 (R447W)

Ref Sequence

ENSEMBL: ENSMUSP00000022264 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022264
AA Change: R447W

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

SMART Domains

Protein: ENSMUSP00000022264
Gene: ENSMUSG00000021745
AA Change: R447W

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

probably benign
Transcript: ENSMUST00000226099

Coding Region Coverage

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

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 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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	G	3: 121,465,033 (GRCm39)	E23G	unknown	Het
Abhd5	A	G	9: 122,208,606 (GRCm39)	Y332C	probably damaging	Het
Adcyap1r1	A	T	6: 55,457,055 (GRCm39)	E262V	probably damaging	Het
Adgre5	A	G	8: 84,450,658 (GRCm39)	Y793H	probably damaging	Het
Arhgef33	A	T	17: 80,654,707 (GRCm39)	Y78F	possibly damaging	Het
Asl	G	A	5: 130,047,693 (GRCm39)	A91V	probably damaging	Het
Cd40	A	T	2: 164,905,061 (GRCm39)	I126F	probably benign	Het
Ceacam10	A	G	7: 24,476,705 (GRCm39)	E2G	probably damaging	Het
Cfap46	C	T	7: 139,230,805 (GRCm39)	R941H		Het
Cntnap3	A	T	13: 65,006,579 (GRCm39)	S78T	probably damaging	Het
Cntnap4	T	C	8: 113,602,181 (GRCm39)	V1195A	possibly damaging	Het
Cthrc1	T	C	15: 38,947,874 (GRCm39)	S198P	probably damaging	Het
Dcaf7	T	G	11: 105,942,794 (GRCm39)		probably null	Het
Dhx16	A	G	17: 36,193,413 (GRCm39)	E252G	probably benign	Het
Efcab2	C	T	1: 178,302,505 (GRCm39)	T83I	possibly damaging	Het
Efhc1	A	G	1: 21,049,738 (GRCm39)	N533D	probably benign	Het
Emilin2	A	G	17: 71,581,112 (GRCm39)	V538A	probably benign	Het
Fam171b	A	T	2: 83,683,914 (GRCm39)	T144S	probably damaging	Het
Fam98a	A	G	17: 75,845,474 (GRCm39)	F424S	unknown	Het
Gm3573	T	C	14: 42,011,605 (GRCm39)	R42G	possibly damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
H2-K2	G	A	17: 34,218,975 (GRCm39)	P23S	probably benign	Het
Hormad2	G	A	11: 4,377,372 (GRCm39)	P22L	probably damaging	Het
Hoxb1	C	T	11: 96,256,810 (GRCm39)	A53V	probably benign	Het
Kalrn	T	A	16: 33,849,197 (GRCm39)		probably null	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Kif1a	C	T	1: 93,000,766 (GRCm39)	E287K	probably benign	Het
Lrrk1	A	T	7: 65,909,666 (GRCm39)	*2015K	probably null	Het
Ltbp1	G	T	17: 75,486,157 (GRCm39)	G61C	probably damaging	Het
Mthfd2l	A	G	5: 91,107,567 (GRCm39)	H143R	probably damaging	Het
Myo1d	C	A	11: 80,448,296 (GRCm39)	G943V	possibly damaging	Het
Ncoa1	T	A	12: 4,345,643 (GRCm39)	Q568L	probably damaging	Het
Ncoa3	G	A	2: 165,899,130 (GRCm39)	S824N	probably benign	Het
Nfe2l3	A	T	6: 51,434,925 (GRCm39)	D495V	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp14	A	G	7: 106,782,169 (GRCm39)	I455M	probably benign	Het
Npb	T	C	11: 120,499,375 (GRCm39)	L14P	probably damaging	Het
Or51f1	C	T	7: 102,505,636 (GRCm39)	M284I	probably benign	Het
P2ry12	G	A	3: 59,125,496 (GRCm39)	R60C	possibly damaging	Het
Pcdhb17	T	A	18: 37,619,419 (GRCm39)	L403*	probably null	Het
Phb2	G	A	6: 124,690,974 (GRCm39)	R44H	probably damaging	Het
Plekha5	A	T	6: 140,372,253 (GRCm39)	T68S	probably benign	Het
Ptprk	T	C	10: 28,462,006 (GRCm39)	Y1190H	probably damaging	Het
Ptpro	G	T	6: 137,371,873 (GRCm39)	C630F	probably damaging	Het
Rrp15	G	T	1: 186,453,718 (GRCm39)	P243Q	possibly damaging	Het
Smurf1	A	G	5: 144,830,920 (GRCm39)	F285S	possibly damaging	Het
Spata13	C	T	14: 60,944,349 (GRCm39)	P581S	probably benign	Het
Tex44	T	C	1: 86,354,253 (GRCm39)	I54T	unknown	Het
Tom1l2	A	G	11: 60,161,277 (GRCm39)	V78A	probably damaging	Het
Vps11	A	G	9: 44,265,738 (GRCm39)	W514R	probably damaging	Het
Wnk2	C	A	13: 49,254,445 (GRCm39)	V357L	probably benign	Het
Zfp970	C	T	2: 177,167,790 (GRCm39)	Q455*	probably null	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
R0488:Ptprg	UTSW	14	12,220,653 (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
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'- TGGCTAGATCCCAGTCATCTG -3'
(R):5'- GCCACCAATATTCCTCCATGG -3'

Sequencing Primer
(F):5'- GGCTAGATCCCAGTCATCTGAATATG -3'
(R):5'- GCACAGTAAATTATACAGCAAAATGC -3'

Posted On

2022-09-12