Incidental Mutation 'IGL01089:Ptprg'
ID 52668
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 # IGL01089
Quality Score
Status
Chromosome 14
Chromosomal Location 10227722-10916220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12215286 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1091 (H1091R)
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: H1091R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022264
Gene: ENSMUSG00000021745
AA Change: H1091R

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 benign
Transcript: ENSMUST00000119888
AA Change: H316R

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113679
Gene: ENSMUSG00000021745
AA Change: H316R

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T C 14: 29,710,292 (GRCm39) L353S probably damaging Het
Adgrf2 G A 17: 43,021,049 (GRCm39) P592S probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Afap1l2 A C 19: 56,901,843 (GRCm39) probably null Het
Asnsd1 G A 1: 53,387,436 (GRCm39) P64S probably damaging Het
Bmt2 A G 6: 13,663,270 (GRCm39) M76T probably damaging Het
Clca3b A T 3: 144,529,283 (GRCm39) V797D probably benign Het
Cog2 T C 8: 125,271,982 (GRCm39) S499P probably benign Het
Cyp27a1 A T 1: 74,771,097 (GRCm39) Y94F possibly damaging Het
D630045J12Rik A G 6: 38,113,898 (GRCm39) S1765P probably benign Het
Fam149a A G 8: 45,801,564 (GRCm39) L519P possibly damaging Het
Fam171a2 G A 11: 102,328,674 (GRCm39) A695V possibly damaging Het
Fat1 T A 8: 45,470,894 (GRCm39) V1566E probably damaging Het
Flvcr1 T G 1: 190,745,587 (GRCm39) N361H probably damaging Het
Gm1110 T C 9: 26,793,156 (GRCm39) N540S probably benign Het
Katnip A G 7: 125,394,485 (GRCm39) E187G probably damaging Het
Kcns3 T A 12: 11,141,572 (GRCm39) T376S possibly damaging Het
Krt32 A G 11: 99,978,605 (GRCm39) S150P probably benign Het
Liat1 A G 11: 75,894,163 (GRCm39) E180G possibly damaging Het
Lrtm2 C T 6: 119,297,753 (GRCm39) R96Q possibly damaging Het
Mctp1 A G 13: 77,168,917 (GRCm39) E838G probably damaging Het
Mios T C 6: 8,234,363 (GRCm39) probably null Het
Or1j10 A T 2: 36,267,178 (GRCm39) Y130F probably damaging Het
Phldb1 T A 9: 44,619,184 (GRCm39) K167* probably null Het
Pkhd1l1 A G 15: 44,347,265 (GRCm39) probably benign Het
Plaa A G 4: 94,462,284 (GRCm39) V531A probably benign Het
Psmb2 A G 4: 126,577,999 (GRCm39) Y59C probably damaging Het
Rbm44 T A 1: 91,096,419 (GRCm39) V926D possibly damaging Het
Rgma G T 7: 73,059,462 (GRCm39) V189L possibly damaging Het
Sbf2 A T 7: 109,948,169 (GRCm39) I1227K probably damaging Het
Slc8a1 T C 17: 81,955,710 (GRCm39) T443A probably damaging Het
Slc8a1 A G 17: 81,696,310 (GRCm39) V896A probably damaging Het
Taf2 T C 15: 54,879,977 (GRCm39) M1120V probably benign Het
Ugt2b34 C T 5: 87,054,185 (GRCm39) V199I probably benign Het
Unc5c C A 3: 141,523,963 (GRCm39) probably benign Het
Usp37 G A 1: 74,532,205 (GRCm39) R63* probably null Het
Other mutations in Ptprg
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2013-06-21