Incidental Mutation 'R4124:Tgtp2'
ID 315320
Institutional Source Beutler Lab
Gene Symbol Tgtp2
Ensembl Gene ENSMUSG00000078921
Gene Name T cell specific GTPase 2
Synonyms
MMRRC Submission 041632-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4124 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 48948021-48955033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48950238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 111 (I111M)
Ref Sequence ENSEMBL: ENSMUSP00000045025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046745] [ENSMUST00000056759] [ENSMUST00000102785] [ENSMUST00000179282]
AlphaFold Q3T9E4
Q62293
Predicted Effect probably damaging
Transcript: ENSMUST00000046745
AA Change: I111M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045025
Gene: ENSMUSG00000078921
AA Change: I111M

DomainStartEndE-ValueType
Pfam:IIGP 22 395 2.9e-178 PFAM
Pfam:MMR_HSR1 58 217 5.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056759
SMART Domains Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 4 227 5.7e-7 PFAM
Pfam:7tm_1 10 259 1.5e-33 PFAM
Pfam:7tm_4 108 252 1.7e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102785
SMART Domains Protein: ENSMUSP00000099846
Gene: ENSMUSG00000040328

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 4 227 5.7e-7 PFAM
Pfam:7tm_1 10 259 1.5e-33 PFAM
Pfam:7tm_4 108 252 1.7e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128411
Predicted Effect probably benign
Transcript: ENSMUST00000179282
SMART Domains Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328

DomainStartEndE-ValueType
Pfam:7tm_4 1 276 3.6e-51 PFAM
Pfam:7TM_GPCR_Srsx 4 227 5.7e-7 PFAM
Pfam:7tm_1 10 259 3.8e-26 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T A 7: 40,643,345 (GRCm39) M338K probably damaging Het
4933409G03Rik T A 2: 68,446,568 (GRCm39) probably benign Het
Adamtsl4 C T 3: 95,588,982 (GRCm39) R483Q probably benign Het
Aldh7a1 A T 18: 56,670,395 (GRCm39) probably benign Het
Ank T C 15: 27,571,709 (GRCm39) F327S probably damaging Het
Ap2b1 A G 11: 83,256,471 (GRCm39) probably null Het
Cd6 G T 19: 10,767,972 (GRCm39) P630T probably damaging Het
Cdk19 A G 10: 40,270,391 (GRCm39) I67V probably benign Het
D630003M21Rik C T 2: 158,038,513 (GRCm39) V978M probably damaging Het
Dsp A G 13: 38,370,689 (GRCm39) D864G probably damaging Het
Duox1 A G 2: 122,167,902 (GRCm39) R1062G probably damaging Het
Fbp2 T C 13: 63,002,755 (GRCm39) E99G probably damaging Het
Fras1 A G 5: 96,918,512 (GRCm39) D3516G probably benign Het
Gpx6 C T 13: 21,501,815 (GRCm39) Q146* probably null Het
Grid2 A T 6: 63,480,417 (GRCm39) Q77L probably benign Het
Hrh1 T C 6: 114,457,580 (GRCm39) V287A probably benign Het
Kmt2a T C 9: 44,731,093 (GRCm39) probably benign Het
Mak A T 13: 41,210,106 (GRCm39) D43E probably benign Het
Or14j8 A G 17: 38,263,681 (GRCm39) I78T probably benign Het
Poln A G 5: 34,261,295 (GRCm39) S561P probably benign Het
Ptpn11 T C 5: 121,275,520 (GRCm39) S562G probably benign Het
Pxn A G 5: 115,684,966 (GRCm39) R264G probably damaging Het
Rell2 A G 18: 38,091,267 (GRCm39) H144R probably benign Het
Rpgrip1 T C 14: 52,389,781 (GRCm39) probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slamf9 T C 1: 172,303,808 (GRCm39) I51T probably damaging Het
Tep1 C T 14: 51,081,191 (GRCm39) R1349Q possibly damaging Het
Trip11 G A 12: 101,861,957 (GRCm39) Q203* probably null Het
Vmn1r215 A T 13: 23,260,163 (GRCm39) T68S probably benign Het
Ypel2 A G 11: 86,836,753 (GRCm39) probably null Het
Other mutations in Tgtp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02450:Tgtp2 APN 11 48,950,317 (GRCm39) missense probably benign 0.35
Aha2016 UTSW 11 48,950,179 (GRCm39) missense probably damaging 1.00
R1498:Tgtp2 UTSW 11 48,950,165 (GRCm39) missense probably damaging 1.00
R1779:Tgtp2 UTSW 11 48,949,751 (GRCm39) missense probably benign
R1958:Tgtp2 UTSW 11 48,949,919 (GRCm39) missense probably damaging 1.00
R2402:Tgtp2 UTSW 11 48,949,957 (GRCm39) missense probably benign 0.00
R2962:Tgtp2 UTSW 11 48,950,363 (GRCm39) missense probably damaging 1.00
R4484:Tgtp2 UTSW 11 48,950,179 (GRCm39) missense probably damaging 1.00
R4602:Tgtp2 UTSW 11 48,949,811 (GRCm39) missense probably damaging 1.00
R4772:Tgtp2 UTSW 11 48,949,811 (GRCm39) missense probably damaging 1.00
R4965:Tgtp2 UTSW 11 48,950,237 (GRCm39) missense probably damaging 1.00
R5263:Tgtp2 UTSW 11 48,950,090 (GRCm39) missense probably damaging 1.00
R5426:Tgtp2 UTSW 11 48,950,083 (GRCm39) missense probably benign
R7128:Tgtp2 UTSW 11 48,950,135 (GRCm39) missense possibly damaging 0.77
R7147:Tgtp2 UTSW 11 48,950,135 (GRCm39) missense probably damaging 1.00
R7188:Tgtp2 UTSW 11 48,950,135 (GRCm39) missense probably damaging 1.00
R8334:Tgtp2 UTSW 11 48,949,721 (GRCm39) missense probably benign 0.05
R9306:Tgtp2 UTSW 11 48,949,865 (GRCm39) missense probably benign 0.00
R9395:Tgtp2 UTSW 11 48,950,083 (GRCm39) missense probably benign
Z1177:Tgtp2 UTSW 11 48,950,178 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- GACTTCCTCCTTATTGAAACTCTTAGG -3'
(R):5'- AGAGACATCGAGAGTGCTCC -3'

Sequencing Primer
(F):5'- CGCTGTCTATCTTGGTTCTGACAAAG -3'
(R):5'- GCTCCTCTGCACATAGCTG -3'
Posted On 2015-05-14