Incidental Mutation 'IGL00819:Tpra1'
ID 14557
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpra1
Ensembl Gene ENSMUSG00000002871
Gene Name transmembrane protein, adipocyte asscociated 1
Synonyms Tpra40, 40kDa, Gpr175
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL00819
Quality Score
Status
Chromosome 6
Chromosomal Location 88879238-88889216 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 88886318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 65 (Y65*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055022] [ENSMUST00000128790] [ENSMUST00000129979] [ENSMUST00000150236] [ENSMUST00000203185] [ENSMUST00000153874] [ENSMUST00000152585] [ENSMUST00000203345] [ENSMUST00000203648] [ENSMUST00000204765] [ENSMUST00000203694]
AlphaFold Q99MU1
Predicted Effect probably damaging
Transcript: ENSMUST00000055022
AA Change: M99K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063042
Gene: ENSMUSG00000002871
AA Change: M99K

DomainStartEndE-ValueType
Pfam:Tmemb_40 36 311 9.9e-95 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000123257
AA Change: Y65*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128171
SMART Domains Protein: ENSMUSP00000114865
Gene: ENSMUSG00000002871

DomainStartEndE-ValueType
Pfam:Tmemb_40 1 88 1.5e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128790
AA Change: M99K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145116
Gene: ENSMUSG00000002871
AA Change: M99K

DomainStartEndE-ValueType
Pfam:Tmemb_40 36 206 2e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129979
AA Change: M93K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145368
Gene: ENSMUSG00000002871
AA Change: M93K

DomainStartEndE-ValueType
Pfam:Tmemb_40 30 211 2e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135778
Predicted Effect probably damaging
Transcript: ENSMUST00000150236
AA Change: M93K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145098
Gene: ENSMUSG00000002871
AA Change: M93K

DomainStartEndE-ValueType
Pfam:Tmemb_40 30 212 1.6e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203185
AA Change: M99K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145168
Gene: ENSMUSG00000002871
AA Change: M99K

DomainStartEndE-ValueType
Pfam:Tmemb_40 36 311 9.9e-95 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153874
AA Change: M99K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118017
Gene: ENSMUSG00000002871
AA Change: M99K

DomainStartEndE-ValueType
Pfam:Tmemb_40 32 162 6.5e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148874
Predicted Effect probably benign
Transcript: ENSMUST00000152585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138415
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203155
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141163
Predicted Effect probably damaging
Transcript: ENSMUST00000203345
AA Change: M99K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144846
Gene: ENSMUSG00000002871
AA Change: M99K

DomainStartEndE-ValueType
Pfam:Tmemb_40 36 170 6.2e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203648
AA Change: M99K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145404
Gene: ENSMUSG00000002871
AA Change: M99K

DomainStartEndE-ValueType
Pfam:Tmemb_40 36 222 6.6e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204765
AA Change: M99K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145050
Gene: ENSMUSG00000002871
AA Change: M99K

DomainStartEndE-ValueType
Pfam:Tmemb_40 36 311 9.9e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204584
Predicted Effect probably benign
Transcript: ENSMUST00000203694
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A T 3: 96,590,350 (GRCm39) probably null Het
Apaf1 G T 10: 90,833,202 (GRCm39) probably null Het
Ash1l T A 3: 88,915,043 (GRCm39) V1891E possibly damaging Het
Atm A G 9: 53,429,831 (GRCm39) S402P probably damaging Het
Camk2g C T 14: 20,787,398 (GRCm39) G500S probably damaging Het
Ccdc150 T A 1: 54,302,732 (GRCm39) N117K probably damaging Het
Ccl7 A G 11: 81,937,401 (GRCm39) N45S probably benign Het
Dnah2 A T 11: 69,364,176 (GRCm39) probably null Het
Efcab6 A G 15: 83,902,843 (GRCm39) I169T probably benign Het
Exo1 T C 1: 175,723,803 (GRCm39) V383A probably benign Het
Fbxl2 A G 9: 113,813,047 (GRCm39) probably benign Het
Fryl A T 5: 73,305,451 (GRCm39) V106D possibly damaging Het
Fsip1 C A 2: 118,080,393 (GRCm39) R121L possibly damaging Het
Igsf9 T C 1: 172,324,203 (GRCm39) S789P probably benign Het
Klf7 T C 1: 64,081,476 (GRCm39) D284G possibly damaging Het
Mbtd1 A G 11: 93,822,637 (GRCm39) probably null Het
Mef2c A T 13: 83,773,499 (GRCm39) D125V probably damaging Het
Nectin4 T C 1: 171,212,254 (GRCm39) L284S probably damaging Het
Numa1 G T 7: 101,641,917 (GRCm39) G122W possibly damaging Het
Pcbd1 A C 10: 60,927,919 (GRCm39) E27A probably benign Het
Pclo A G 5: 14,908,860 (GRCm39) N5056S unknown Het
Pelp1 G A 11: 70,285,444 (GRCm39) P808L unknown Het
Ppp1r12a T C 10: 108,076,682 (GRCm39) S304P probably damaging Het
Ppp1r7 T A 1: 93,273,978 (GRCm39) D51E probably benign Het
Rassf6 T C 5: 90,751,930 (GRCm39) K308E probably benign Het
Rel A T 11: 23,693,029 (GRCm39) F335I probably benign Het
Scnn1g A G 7: 121,339,660 (GRCm39) E153G probably benign Het
Slc2a5 T C 4: 150,210,113 (GRCm39) Y33H probably damaging Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Trip12 C T 1: 84,731,993 (GRCm39) G994S probably damaging Het
Trnt1 T A 6: 106,753,183 (GRCm39) Y195* probably null Het
Ttn A G 2: 76,573,394 (GRCm39) I17506T probably damaging Het
Ubr4 C T 4: 139,203,593 (GRCm39) T4761I possibly damaging Het
Vmn1r204 T A 13: 22,741,117 (GRCm39) Y249* probably null Het
Zfp212 C T 6: 47,908,256 (GRCm39) P412S probably damaging Het
Zhx1 A G 15: 57,918,090 (GRCm39) V52A probably benign Het
Zpbp2 A T 11: 98,448,418 (GRCm39) H245L probably damaging Het
Other mutations in Tpra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Tpra1 APN 6 88,887,390 (GRCm39) splice site probably benign
IGL01648:Tpra1 APN 6 88,886,653 (GRCm39) splice site probably benign
IGL01810:Tpra1 APN 6 88,886,324 (GRCm39) missense probably damaging 1.00
IGL02040:Tpra1 APN 6 88,887,164 (GRCm39) missense possibly damaging 0.89
IGL02864:Tpra1 APN 6 88,888,868 (GRCm39) missense probably damaging 1.00
R0528:Tpra1 UTSW 6 88,887,372 (GRCm39) missense probably benign 0.12
R1555:Tpra1 UTSW 6 88,887,185 (GRCm39) missense probably damaging 0.99
R1824:Tpra1 UTSW 6 88,888,805 (GRCm39) missense probably benign
R4774:Tpra1 UTSW 6 88,887,661 (GRCm39) intron probably benign
R4879:Tpra1 UTSW 6 88,888,691 (GRCm39) missense probably damaging 1.00
R6074:Tpra1 UTSW 6 88,888,919 (GRCm39) missense possibly damaging 0.93
R7017:Tpra1 UTSW 6 88,885,294 (GRCm39) missense probably damaging 1.00
R7097:Tpra1 UTSW 6 88,885,276 (GRCm39) missense probably damaging 1.00
R7122:Tpra1 UTSW 6 88,885,276 (GRCm39) missense probably damaging 1.00
R7639:Tpra1 UTSW 6 88,887,158 (GRCm39) missense probably benign 0.07
R8096:Tpra1 UTSW 6 88,888,699 (GRCm39) nonsense probably null
R8975:Tpra1 UTSW 6 88,888,726 (GRCm39) missense probably benign
R9434:Tpra1 UTSW 6 88,888,774 (GRCm39) missense probably benign 0.17
R9513:Tpra1 UTSW 6 88,887,221 (GRCm39) missense probably benign 0.00
R9516:Tpra1 UTSW 6 88,887,221 (GRCm39) missense probably benign 0.00
RF012:Tpra1 UTSW 6 88,886,324 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06