Incidental Mutation 'IGL00484:Ptprg'
ID 4234
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 # IGL00484
Quality Score
Status
Chromosome 14
Chromosomal Location 10227722-10916220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12215220 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1069 (V1069A)
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: V1069A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022264
Gene: ENSMUSG00000021745
AA Change: V1069A

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: V294A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113679
Gene: ENSMUSG00000021745
AA Change: V294A

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 A G 7: 139,455,860 (GRCm39) Q496R probably benign Het
Ankrd17 A T 5: 90,416,220 (GRCm39) S1151T probably damaging Het
Ankrd55 A G 13: 112,504,328 (GRCm39) K330R probably benign Het
Anln A T 9: 22,272,120 (GRCm39) Y666* probably null Het
Atp1a2 A G 1: 172,103,569 (GRCm39) W984R probably damaging Het
Atp8b3 G T 10: 80,361,998 (GRCm39) probably benign Het
Casc3 A G 11: 98,714,028 (GRCm39) E420G possibly damaging Het
Cep250 G A 2: 155,833,249 (GRCm39) D1724N probably benign Het
Dhx15 T G 5: 52,324,154 (GRCm39) E379D probably benign Het
Dock1 T A 7: 134,748,260 (GRCm39) probably benign Het
Exph5 C T 9: 53,288,006 (GRCm39) Q1696* probably null Het
Fkbp6 C A 5: 135,368,802 (GRCm39) A213S possibly damaging Het
Fndc4 A G 5: 31,450,840 (GRCm39) probably benign Het
Gli3 A T 13: 15,818,977 (GRCm39) T260S possibly damaging Het
Glmp T A 3: 88,233,169 (GRCm39) probably null Het
H2ac22 G T 13: 21,971,091 (GRCm39) R100S probably benign Het
Hapstr1 T C 16: 8,649,175 (GRCm39) probably benign Het
Ighv1-19 G A 12: 114,672,329 (GRCm39) T97I probably benign Het
Kdm6b T C 11: 69,297,132 (GRCm39) S407G possibly damaging Het
Lrp1b T C 2: 41,000,873 (GRCm39) Y2231C probably damaging Het
Lyst T A 13: 13,884,188 (GRCm39) S2999T probably benign Het
Lztr1 T C 16: 17,335,314 (GRCm39) probably benign Het
N4bp2 T C 5: 65,964,867 (GRCm39) V972A probably damaging Het
Ncoa6 A T 2: 155,248,128 (GRCm39) S1725R probably damaging Het
Nfkbiz A G 16: 55,638,272 (GRCm39) V396A probably benign Het
Nup205 A G 6: 35,191,737 (GRCm39) Q1074R probably damaging Het
Pard3 T C 8: 128,098,327 (GRCm39) V456A probably benign Het
Peli1 T A 11: 21,096,952 (GRCm39) V114E probably damaging Het
Phf20l1 T G 15: 66,487,482 (GRCm39) probably benign Het
Pik3r1 A C 13: 101,838,255 (GRCm39) I267S probably benign Het
Polh C T 17: 46,483,169 (GRCm39) probably benign Het
Ppl A G 16: 4,905,816 (GRCm39) I1493T probably benign Het
Pramel19 T C 4: 101,798,898 (GRCm39) F290L probably benign Het
Pramel28 G A 4: 143,693,184 (GRCm39) probably benign Het
Prg3 A G 2: 84,819,091 (GRCm39) I6V probably benign Het
Rasal2 A T 1: 157,001,745 (GRCm39) probably null Het
Slc36a2 A T 11: 55,053,614 (GRCm39) Y341* probably null Het
Snapc3 A G 4: 83,354,633 (GRCm39) I215V probably damaging Het
Srrm2 T A 17: 24,037,492 (GRCm39) S1475T probably benign Het
Sycp2 A T 2: 178,024,141 (GRCm39) D414E probably damaging Het
Tanc1 A G 2: 59,623,520 (GRCm39) T468A probably benign Het
Tfap2d A G 1: 19,213,105 (GRCm39) T310A probably benign Het
Tgfbr2 T A 9: 115,987,357 (GRCm39) I51F probably benign Het
Trip11 A T 12: 101,851,570 (GRCm39) C546* probably null Het
Ttbk2 C T 2: 120,604,367 (GRCm39) W210* probably null Het
Upk1b T G 16: 38,600,378 (GRCm39) N201H possibly damaging Het
Uqcc5 T A 14: 30,810,879 (GRCm39) probably benign Het
Ush2a A T 1: 188,514,710 (GRCm39) T3180S probably benign Het
Vps13d T G 4: 144,853,145 (GRCm39) Q2323P probably benign Het
Zfp810 A T 9: 22,189,605 (GRCm39) Y434* probably null Het
Other mutations in Ptprg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Ptprg APN 14 12,215,992 (GRCm38) missense probably damaging 1.00
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