Incidental Mutation 'IGL02480:Ptpra'
ID 295163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpra
Ensembl Gene ENSMUSG00000027303
Gene Name protein tyrosine phosphatase receptor type A
Synonyms PTP[a], RPTRalpha, PTPalpha, RPTPalpha, Ptpa
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02480
Quality Score
Status
Chromosome 2
Chromosomal Location 130292198-130396220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 130346181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 114 (T114K)
Ref Sequence ENSEMBL: ENSMUSP00000155099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028769] [ENSMUST00000077303] [ENSMUST00000230981]
AlphaFold P18052
Predicted Effect probably benign
Transcript: ENSMUST00000028769
AA Change: T114K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000028769
Gene: ENSMUSG00000027303
AA Change: T114K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 49 61 N/A INTRINSIC
low complexity region 127 142 N/A INTRINSIC
transmembrane domain 143 165 N/A INTRINSIC
PTPc 231 494 6.01e-130 SMART
PTPc 523 784 3.56e-132 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077303
AA Change: T114K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000076533
Gene: ENSMUSG00000027303
AA Change: T114K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 49 61 N/A INTRINSIC
low complexity region 127 142 N/A INTRINSIC
transmembrane domain 143 165 N/A INTRINSIC
PTPc 231 530 2.03e-118 SMART
PTPc 559 820 3.56e-132 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000230981
AA Change: T114K

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
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 contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit deficits in Morris water maze learning, reduced locomotor activity, and decreased anxiety. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,946,908 (GRCm39) I202K probably benign Het
Abcc1 T A 16: 14,221,869 (GRCm39) S169T possibly damaging Het
Acsm1 A T 7: 119,255,265 (GRCm39) I389F possibly damaging Het
Actn2 T A 13: 12,291,364 (GRCm39) Q680L probably benign Het
Ankrd13d G A 19: 4,321,491 (GRCm39) P404S possibly damaging Het
Ankrd46 G T 15: 36,484,142 (GRCm39) probably benign Het
Arfip1 A G 3: 84,455,239 (GRCm39) probably null Het
Asb15 A T 6: 24,570,745 (GRCm39) L574F probably damaging Het
Cym T C 3: 107,120,838 (GRCm39) I256V probably benign Het
Cyp3a44 C T 5: 145,731,715 (GRCm39) E144K possibly damaging Het
Efna1 T C 3: 89,179,902 (GRCm39) E109G probably benign Het
Eif4a3l1 A T 6: 136,306,213 (GRCm39) I225F probably damaging Het
Eml1 C A 12: 108,487,955 (GRCm39) Q556K probably benign Het
Eml5 T G 12: 98,842,502 (GRCm39) T199P probably damaging Het
Entr1 T A 2: 26,275,132 (GRCm39) H342L probably damaging Het
Etl4 A C 2: 20,793,335 (GRCm39) M687L probably damaging Het
Fam199x C A X: 135,950,788 (GRCm39) T56K probably damaging Het
Fat4 A G 3: 39,064,579 (GRCm39) D4845G probably damaging Het
Gm4987 T A X: 45,544,973 (GRCm39) noncoding transcript Het
Gm5828 C A 1: 16,839,766 (GRCm39) noncoding transcript Het
Gm5930 T C 14: 44,575,087 (GRCm39) Y68C probably benign Het
Gucy1a1 C T 3: 82,005,040 (GRCm39) V582M probably damaging Het
Haghl G T 17: 26,002,033 (GRCm39) A220E probably damaging Het
Hsf5 G A 11: 87,522,483 (GRCm39) A359T possibly damaging Het
Igsf9 C A 1: 172,324,480 (GRCm39) D799E possibly damaging Het
Igsf9 A T 1: 172,312,345 (GRCm39) probably benign Het
Itga1 A T 13: 115,124,184 (GRCm39) F703I probably damaging Het
Kcna6 G A 6: 126,715,531 (GRCm39) P453S probably damaging Het
Lzic A T 4: 149,571,260 (GRCm39) N15I probably damaging Het
Or1j10 T G 2: 36,267,504 (GRCm39) C239G probably damaging Het
Or2n1d A G 17: 38,646,314 (GRCm39) R89G probably benign Het
Or4f54 A G 2: 111,122,858 (GRCm39) I82V possibly damaging Het
Or5p78 C T 7: 108,212,018 (GRCm39) T168I probably benign Het
P4ha1 T C 10: 59,179,574 (GRCm39) Y141H probably damaging Het
Paxx G A 2: 25,350,024 (GRCm39) P164S probably damaging Het
Pgd A G 4: 149,241,075 (GRCm39) V278A probably damaging Het
Pik3c2g A G 6: 139,798,526 (GRCm39) Y352C probably damaging Het
Pkd2l2 A G 18: 34,571,843 (GRCm39) N614S possibly damaging Het
Poli T C 18: 70,658,477 (GRCm39) T86A probably benign Het
Psd2 G A 18: 36,139,136 (GRCm39) R528H probably damaging Het
Ptchd4 G T 17: 42,813,431 (GRCm39) C444F probably benign Het
Rho A G 6: 115,912,505 (GRCm39) N123S probably benign Het
Setd5 A G 6: 113,120,770 (GRCm39) D993G probably damaging Het
Slc1a2 T C 2: 102,566,411 (GRCm39) L38P probably damaging Het
Slc2a7 G A 4: 150,244,569 (GRCm39) V346M possibly damaging Het
Slc43a1 A G 2: 84,669,928 (GRCm39) I7V probably benign Het
Spag9 C T 11: 93,999,413 (GRCm39) Q691* probably null Het
Timmdc1 A T 16: 38,342,763 (GRCm39) V45D probably null Het
Tlr8 T A X: 166,027,179 (GRCm39) H557L probably damaging Het
Other mutations in Ptpra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Ptpra APN 2 130,386,359 (GRCm39) missense probably damaging 1.00
IGL01734:Ptpra APN 2 130,385,997 (GRCm39) missense probably damaging 1.00
IGL02066:Ptpra APN 2 30,333,308 (GRCm39) missense possibly damaging 0.83
IGL02073:Ptpra APN 2 30,333,362 (GRCm39) missense probably damaging 1.00
IGL02201:Ptpra APN 2 30,336,389 (GRCm39) missense possibly damaging 0.91
IGL02218:Ptpra APN 2 130,394,255 (GRCm39) splice site probably benign
IGL02385:Ptpra APN 2 130,382,393 (GRCm39) unclassified probably benign
IGL03181:Ptpra APN 2 130,359,707 (GRCm39) missense probably damaging 0.99
R0374:Ptpra UTSW 2 130,379,541 (GRCm39) missense probably damaging 1.00
R0483:Ptpra UTSW 2 130,381,605 (GRCm39) missense probably damaging 1.00
R0848:Ptpra UTSW 2 130,360,911 (GRCm39) missense probably damaging 1.00
R1550:Ptpra UTSW 2 130,383,313 (GRCm39) missense possibly damaging 0.86
R1596:Ptpra UTSW 2 130,386,872 (GRCm39) missense probably damaging 1.00
R1602:Ptpra UTSW 2 30,327,602 (GRCm39) missense probably benign 0.22
R1689:Ptpra UTSW 2 130,345,412 (GRCm39) missense probably benign 0.01
R1760:Ptpra UTSW 2 130,391,747 (GRCm39) missense probably damaging 1.00
R1943:Ptpra UTSW 2 130,386,024 (GRCm39) missense probably damaging 1.00
R2114:Ptpra UTSW 2 130,381,655 (GRCm39) missense probably damaging 1.00
R2115:Ptpra UTSW 2 130,381,655 (GRCm39) missense probably damaging 1.00
R2117:Ptpra UTSW 2 130,381,655 (GRCm39) missense probably damaging 1.00
R2187:Ptpra UTSW 2 130,346,219 (GRCm39) missense probably benign
R2848:Ptpra UTSW 2 130,386,919 (GRCm39) missense probably benign 0.06
R2849:Ptpra UTSW 2 130,386,919 (GRCm39) missense probably benign 0.06
R3962:Ptpra UTSW 2 30,325,672 (GRCm39) missense probably damaging 1.00
R4080:Ptpra UTSW 2 30,333,317 (GRCm39) missense probably damaging 1.00
R4644:Ptpra UTSW 2 130,386,078 (GRCm39) missense probably damaging 1.00
R4779:Ptpra UTSW 2 130,379,537 (GRCm39) missense probably damaging 1.00
R4849:Ptpra UTSW 2 130,374,081 (GRCm39) missense probably damaging 1.00
R4899:Ptpra UTSW 2 130,386,356 (GRCm39) missense probably damaging 1.00
R5186:Ptpra UTSW 2 30,328,367 (GRCm39) critical splice donor site probably null
R5657:Ptpra UTSW 2 130,346,204 (GRCm39) missense probably benign 0.06
R6018:Ptpra UTSW 2 130,345,422 (GRCm39) missense probably benign
R6234:Ptpra UTSW 2 130,379,508 (GRCm39) missense probably damaging 1.00
R6350:Ptpra UTSW 2 130,382,512 (GRCm39) missense probably damaging 1.00
R6622:Ptpra UTSW 2 30,327,589 (GRCm39) missense probably damaging 1.00
R6856:Ptpra UTSW 2 130,361,301 (GRCm39) missense probably damaging 1.00
R7072:Ptpra UTSW 2 130,395,350 (GRCm39) missense probably damaging 1.00
R7146:Ptpra UTSW 2 130,379,571 (GRCm39) critical splice donor site probably null
R7220:Ptpra UTSW 2 130,386,417 (GRCm39) missense probably damaging 1.00
R7346:Ptpra UTSW 2 130,395,320 (GRCm39) missense probably damaging 1.00
R7819:Ptpra UTSW 2 130,346,126 (GRCm39) missense probably benign
R7943:Ptpra UTSW 2 30,322,056 (GRCm39) missense probably damaging 1.00
R8044:Ptpra UTSW 2 130,386,881 (GRCm39) missense possibly damaging 0.93
R8190:Ptpra UTSW 2 30,328,351 (GRCm39) missense probably damaging 1.00
R8231:Ptpra UTSW 2 130,379,523 (GRCm39) missense probably damaging 1.00
R8404:Ptpra UTSW 2 130,391,679 (GRCm39) missense probably damaging 1.00
R8422:Ptpra UTSW 2 130,374,091 (GRCm39) missense possibly damaging 0.86
R8502:Ptpra UTSW 2 130,391,679 (GRCm39) missense probably damaging 1.00
R8683:Ptpra UTSW 2 130,394,187 (GRCm39) missense possibly damaging 0.88
R8952:Ptpra UTSW 2 130,386,969 (GRCm39) missense probably damaging 1.00
R9147:Ptpra UTSW 2 30,328,256 (GRCm39) missense probably benign 0.21
R9147:Ptpra UTSW 2 30,328,255 (GRCm39) missense probably damaging 1.00
R9148:Ptpra UTSW 2 30,328,256 (GRCm39) missense probably benign 0.21
R9148:Ptpra UTSW 2 30,328,255 (GRCm39) missense probably damaging 1.00
R9717:Ptpra UTSW 2 130,384,366 (GRCm39) missense possibly damaging 0.81
Posted On 2015-04-16