Incidental Mutation 'IGL00402:Ptprg'
ID 4233
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptprg
Ensembl Gene ENSMUSG00000021745
Gene Name protein tyrosine phosphatase receptor type G
Synonyms RPTPgamma, 5430405N12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00402
Quality Score
Status
Chromosome 14
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Carb_anhydrase 60 260 1.6e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223890
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,514,165 (GRCm39) L846H probably benign Het
Abca6 A T 11: 110,075,535 (GRCm39) L1319I probably damaging Het
Apob C T 12: 8,043,065 (GRCm39) probably benign Het
Atg16l2 A C 7: 100,945,360 (GRCm39) S268R probably benign Het
Atp1b3 T C 9: 96,215,756 (GRCm39) probably benign Het
Atxn7 T G 14: 14,096,324 (GRCm38) probably benign Het
Birc6 G A 17: 74,880,558 (GRCm39) probably benign Het
C4b G A 17: 34,953,402 (GRCm39) T1027I probably damaging Het
Caskin1 T C 17: 24,722,863 (GRCm39) I577T probably damaging Het
Cbx6 A G 15: 79,713,130 (GRCm39) V99A possibly damaging Het
Ccr9 A C 9: 123,609,109 (GRCm39) I252L probably benign Het
Cdh8 A T 8: 100,006,322 (GRCm39) D88E probably damaging Het
Cep135 T C 5: 76,749,306 (GRCm39) S258P probably damaging Het
Cep57l1 T G 10: 41,597,547 (GRCm39) probably benign Het
Cip2a T A 16: 48,822,178 (GRCm39) H234Q probably damaging Het
Col12a1 T C 9: 79,588,819 (GRCm39) T1099A possibly damaging Het
Col4a4 C T 1: 82,469,362 (GRCm39) G802D unknown Het
Ddx41 T C 13: 55,679,212 (GRCm39) T545A probably damaging Het
Disc1 A T 8: 125,815,014 (GRCm39) T293S probably benign Het
Fam13b A T 18: 34,587,771 (GRCm39) V509D probably damaging Het
Ffar4 C T 19: 38,095,837 (GRCm39) P192L probably benign Het
Fn1 C A 1: 71,680,322 (GRCm39) C461F probably damaging Het
Gm14226 G T 2: 154,867,078 (GRCm39) S345I probably damaging Het
Gopc T C 10: 52,225,326 (GRCm39) K308E probably damaging Het
Hapln2 A T 3: 87,931,641 (GRCm39) N28K possibly damaging Het
Hectd1 T C 12: 51,815,891 (GRCm39) S1394G possibly damaging Het
Hectd1 T C 12: 51,806,215 (GRCm39) H1807R probably benign Het
Ifnl2 A T 7: 28,208,290 (GRCm39) V193D possibly damaging Het
Il1rap T A 16: 26,541,151 (GRCm39) M464K possibly damaging Het
Krtap16-1 A T 11: 99,876,557 (GRCm39) C282* probably null Het
Ltv1 C T 10: 13,066,327 (GRCm39) V100I probably benign Het
Mcf2l T C 8: 13,050,857 (GRCm39) S308P probably damaging Het
Narf G A 11: 121,129,344 (GRCm39) probably null Het
Nmd3 T A 3: 69,652,573 (GRCm39) N386K possibly damaging Het
Noxo1 C T 17: 24,917,910 (GRCm39) probably benign Het
Or1e30 T A 11: 73,678,406 (GRCm39) I214N probably damaging Het
Ppic C T 18: 53,542,366 (GRCm39) G114D probably damaging Het
Ppp4r1 T C 17: 66,123,014 (GRCm39) S339P probably benign Het
Qser1 A G 2: 104,617,326 (GRCm39) V1072A probably benign Het
Rad54l2 T A 9: 106,577,760 (GRCm39) M1054L probably benign Het
Scara5 A C 14: 65,975,864 (GRCm39) probably benign Het
Smtnl2 C T 11: 72,294,085 (GRCm39) probably benign Het
Spink8 A T 9: 109,648,287 (GRCm39) I25F probably benign Het
Vit G A 17: 78,909,336 (GRCm39) probably null Het
Vps13b A G 15: 35,926,372 (GRCm39) D3891G possibly damaging Het
Zfp207 T A 11: 80,283,911 (GRCm39) M277K probably benign Het
Zp2 T C 7: 119,732,623 (GRCm39) D641G probably benign Het
Other mutations in Ptprg
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20