Mutagenetix > Incidental Mutation

Incidental Mutation 'R6234:Ptprg'

504829

Institutional Source

Beutler Lab

Gene Symbol

Ptprg

Ensembl Gene

ENSMUSG00000021745

Gene Name

protein tyrosine phosphatase receptor type G

Synonyms

RPTPgamma, 5430405N12Rik

MMRRC Submission

044399-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6234 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10227722-10916220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12213747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 263 (F263L)

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: F1038L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022264
Gene: ENSMUSG00000021745
AA Change: F1038L

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: F263L

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

SMART Domains

Protein: ENSMUSP00000113679
Gene: ENSMUSG00000021745
AA Change: F263L

Domain	Start	End	E-Value	Type
PTPc	69	343	1.76e-136	SMART
PTPc	371	634	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: ENSMUST00000223890

Meta Mutation Damage Score

0.8300

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Adgb	A	C	10: 10,228,824 (GRCm39)		probably null	Het
Aldoart1	A	G	4: 72,770,409 (GRCm39)	I78T	probably damaging	Het
Bcl2l2	A	G	14: 55,122,245 (GRCm39)	D136G	probably benign	Het
Bltp1	A	G	3: 37,037,620 (GRCm39)	T2475A	probably benign	Het
Cd34	A	T	1: 194,630,308 (GRCm39)	I81F	probably damaging	Het
Chmp1b	T	A	18: 67,339,169 (GRCm39)	*200R	probably null	Het
Clic6	T	C	16: 92,296,110 (GRCm39)	S257P	probably benign	Het
Cnga4	T	G	7: 105,056,906 (GRCm39)	Y336*	probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Eef1akmt2	T	C	7: 132,429,585 (GRCm39)	T215A	probably damaging	Het
Fbrsl1	G	A	5: 110,525,917 (GRCm39)	T95I	probably damaging	Het
Fer1l6	T	C	15: 58,432,488 (GRCm39)	I345T	probably damaging	Het
Fmn1	T	C	2: 113,196,000 (GRCm39)	F567L	unknown	Het
Ftdc1	T	A	16: 58,435,034 (GRCm39)	D97V	probably benign	Het
Gabrg1	A	T	5: 70,999,484 (GRCm39)	L22I	probably benign	Het
Gfm1	A	G	3: 67,342,847 (GRCm39)	D127G	probably damaging	Het
Gm5114	T	A	7: 39,058,768 (GRCm39)	T284S	probably benign	Het
Gm9925	A	T	18: 74,198,308 (GRCm39)		probably benign	Het
Hc	T	C	2: 34,918,058 (GRCm39)	I742V	probably benign	Het
Heatr5a	A	T	12: 51,924,237 (GRCm39)	M1992K	possibly damaging	Het
Homer3	T	C	8: 70,743,815 (GRCm39)		probably null	Het
Hsf5	C	G	11: 87,508,120 (GRCm39)	T8S	probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Il21r	A	G	7: 125,231,757 (GRCm39)	D395G	probably damaging	Het
Kctd14	T	A	7: 97,107,219 (GRCm39)	V190E	probably damaging	Het
Mamdc4	C	G	2: 25,460,092 (GRCm39)	G57A	probably damaging	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Mtch1	A	T	17: 29,559,485 (GRCm39)		probably null	Het
Nasp	G	A	4: 116,479,979 (GRCm39)	A31V	possibly damaging	Het
Neil3	G	T	8: 54,061,774 (GRCm39)	D202E	probably damaging	Het
Nfkb1	C	T	3: 135,332,471 (GRCm39)	V95I	possibly damaging	Het
Ptpra	T	A	2: 130,379,508 (GRCm39)	M327K	probably damaging	Het
Sap30	A	G	8: 57,938,152 (GRCm39)	V155A	probably damaging	Het
Serpinb2	G	A	1: 107,452,501 (GRCm39)	V360M	probably damaging	Het
Stradb	A	G	1: 59,027,707 (GRCm39)	H79R	probably damaging	Het
Svep1	A	T	4: 58,113,458 (GRCm39)		probably null	Het
Tcaf2	A	T	6: 42,607,308 (GRCm39)	H215Q	probably benign	Het
Tdrd5	A	T	1: 156,120,947 (GRCm39)	S227T	possibly damaging	Het
Timmdc1	A	T	16: 38,338,861 (GRCm39)	Y76*	probably null	Het
Tmbim4	T	A	10: 120,057,628 (GRCm39)		probably null	Het
Tpr	A	G	1: 150,293,790 (GRCm39)	K854R	probably benign	Het
Trav6-5	A	G	14: 53,728,832 (GRCm39)	T30A	probably benign	Het
Trrap	T	A	5: 144,776,523 (GRCm39)		probably null	Het
Ube2o	A	T	11: 116,430,316 (GRCm39)	S1141T	probably benign	Het
Usp54	T	A	14: 20,633,518 (GRCm39)	K339I	probably damaging	Het
Vwf	T	G	6: 125,634,128 (GRCm39)	V202G	unknown	Het
Wdr7	T	C	18: 63,857,203 (GRCm39)	L93P	probably damaging	Het
Zfp871	CCACAC	CC	17: 32,994,494 (GRCm39)		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
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'- ATCCAAGGTTGTTTCCTGAGAC -3'
(R):5'- AAGTGAAGTTCTTCATAAGTGCACC -3'

Sequencing Primer
(F):5'- CCAAGGTTGTTTCCTGAGACTTTTG -3'
(R):5'- GTTCTTCATAAGTGCACCAAGCTTAC -3'

Posted On

2018-02-28