Mutagenetix > Incidental Mutation

Incidental Mutation 'R9587:Ptprg'

722850

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 #

R9587 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10227722-10916220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12215992 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1147 (L1147Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022264 (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: L1147Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022264
Gene: ENSMUSG00000021745
AA Change: L1147Q

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: L372Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113679
Gene: ENSMUSG00000021745
AA Change: L372Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223890

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,119,149 (GRCm39)	L3552Q	probably damaging	Het
Atat1	T	C	17: 36,209,182 (GRCm39)	E353G	probably benign	Het
Banf2	A	G	2: 143,907,452 (GRCm39)	K42R	probably damaging	Het
Cabp7	T	A	11: 4,688,865 (GRCm39)	M202L	probably damaging	Het
Cage1	T	C	13: 38,207,233 (GRCm39)	E204G	probably damaging	Het
Caprin2	A	G	6: 148,770,500 (GRCm39)	V498A	probably benign	Het
Cfap161	A	G	7: 83,440,878 (GRCm39)	F150L	probably damaging	Het
Cyb5r1	G	A	1: 134,335,387 (GRCm39)	G141R	probably damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dnah9	T	C	11: 65,999,217 (GRCm39)	Q974R	probably null	Het
Eps8l3	G	A	3: 107,798,683 (GRCm39)	R523Q	probably benign	Het
Ext1	T	C	15: 52,955,808 (GRCm39)	I430V	possibly damaging	Het
Gga3	T	C	11: 115,481,717 (GRCm39)	K202R	probably damaging	Het
Gm11567	T	C	11: 99,770,136 (GRCm39)	W25R	unknown	Het
Gpr3	G	A	4: 132,937,988 (GRCm39)	A228V	probably damaging	Het
Krt10	T	C	11: 99,277,420 (GRCm39)	D426G	possibly damaging	Het
Krt24	T	A	11: 99,174,453 (GRCm39)	I205F	probably damaging	Het
Krt33a	T	C	11: 99,906,733 (GRCm39)	N81D	probably damaging	Het
Mapkbp1	T	C	2: 119,847,277 (GRCm39)	S505P	possibly damaging	Het
Matr3	A	G	18: 35,717,876 (GRCm39)	D696G	probably null	Het
Mov10	C	T	3: 104,711,899 (GRCm39)	G158S	probably benign	Het
Myh1	T	A	11: 67,102,196 (GRCm39)	M829K	probably benign	Het
Ncam2	T	C	16: 81,262,501 (GRCm39)	V318A	probably benign	Het
Ndufv3	A	G	17: 31,747,106 (GRCm39)	E332G	probably benign	Het
Ngdn	C	T	14: 55,254,578 (GRCm39)	T43M	probably benign	Het
Nop2	T	A	6: 125,117,785 (GRCm39)	D445E	probably damaging	Het
Or2y17	C	T	11: 49,232,007 (GRCm39)	S216F	probably benign	Het
Or3a10	G	A	11: 73,935,360 (GRCm39)	H247Y	probably damaging	Het
Or5w17	A	T	2: 87,584,184 (GRCm39)	M51K	possibly damaging	Het
Or8u8	A	T	2: 86,011,564 (GRCm39)	V297E	probably damaging	Het
Prl2b1	G	A	13: 27,567,601 (GRCm39)	A181V	probably benign	Het
Rubcn	T	C	16: 32,663,679 (GRCm39)	D319G	probably damaging	Het
Sfswap	G	A	5: 129,618,427 (GRCm39)	D454N	probably benign	Het
Slc38a6	G	T	12: 73,388,513 (GRCm39)	K242N	probably benign	Het
Tmigd3	A	G	3: 105,824,088 (GRCm39)	D19G	probably damaging	Het
Trim36	T	C	18: 46,308,722 (GRCm39)	E380G	probably benign	Het
Ttn	T	A	2: 76,624,976 (GRCm39)	I15201F	probably damaging	Het
Vmn2r12	A	G	5: 109,239,322 (GRCm39)	S414P	probably damaging	Het
Vmn2r82	A	T	10: 79,214,936 (GRCm39)	K306N	possibly damaging	Het
Wdfy4	A	T	14: 32,769,230 (GRCm39)	Y2232*	probably null	Het
Wdr53	A	G	16: 32,075,830 (GRCm39)	D345G	probably damaging	Het
Zfp26	G	A	9: 20,348,213 (GRCm39)	R784C	probably damaging	Het
Zfp58	A	T	13: 67,639,823 (GRCm39)	C223S	probably damaging	Het
Zfp618	A	G	4: 63,051,916 (GRCm39)	H899R		Het
Zfp963	A	G	8: 70,195,692 (GRCm39)	Y254H	probably benign	Het
Zfp994	T	C	17: 22,421,764 (GRCm39)	D17G	probably 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
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
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'- ACCCCAAGTCAGCTCTATGAATG -3'
(R):5'- ATTGCCGCATCTACTTGCAC -3'

Sequencing Primer
(F):5'- CAAGTCAGCTCTATGAATGGGTGC -3'
(R):5'- GCACACATCATGTACTCTGCATG -3'

Posted On

2022-08-09