Incidental Mutation 'IGL02133:Paqr3'
ID 281083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Paqr3
Ensembl Gene ENSMUSG00000055725
Gene Name progestin and adipoQ receptor family member III
Synonyms 6330415A20Rik, RKTG
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL02133
Quality Score
Status
Chromosome 5
Chromosomal Location 97082329-97111596 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97095931 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 308 (V308A)
Ref Sequence ENSEMBL: ENSMUSP00000108593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035635] [ENSMUST00000069453] [ENSMUST00000112969] [ENSMUST00000196078]
AlphaFold Q6TCG8
Predicted Effect probably benign
Transcript: ENSMUST00000035635
SMART Domains Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663

DomainStartEndE-ValueType
low complexity region 12 37 N/A INTRINSIC
Pfam:Pkinase_Tyr 48 309 8.9e-27 PFAM
Pfam:Pkinase 48 311 1.6e-43 PFAM
coiled coil region 455 490 N/A INTRINSIC
low complexity region 511 538 N/A INTRINSIC
low complexity region 624 636 N/A INTRINSIC
low complexity region 653 664 N/A INTRINSIC
low complexity region 729 753 N/A INTRINSIC
low complexity region 779 794 N/A INTRINSIC
low complexity region 838 852 N/A INTRINSIC
Pfam:BMP2K_C 873 1138 7.9e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069453
AA Change: V308A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069324
Gene: ENSMUSG00000055725
AA Change: V308A

DomainStartEndE-ValueType
Pfam:HlyIII 64 289 3.4e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112969
AA Change: V308A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108593
Gene: ENSMUSG00000055725
AA Change: V308A

DomainStartEndE-ValueType
Pfam:HlyIII 64 289 1.4e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126585
Predicted Effect probably benign
Transcript: ENSMUST00000196078
SMART Domains Protein: ENSMUSP00000142871
Gene: ENSMUSG00000055725

DomainStartEndE-ValueType
Pfam:HlyIII 64 179 7e-24 PFAM
transmembrane domain 181 203 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Targeted deletion of this gene causes faster chemical carcinogen-induced skin cell proliferation, higher epidermal thickness, increased number and size of skin papillomas, shorter tumor latency and delayed tumor regression. Heterozygotes develop tumors earlier and more frequently than control mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011H14Rik T A 14: 49,232,967 Q165L probably benign Het
9530068E07Rik G T 11: 52,403,510 A193S probably damaging Het
Adam4 A G 12: 81,420,029 V606A probably benign Het
Atp2c2 A G 8: 119,754,335 I821V probably benign Het
Bmi1 A T 2: 18,683,677 R160W probably damaging Het
Ccdc88c G A 12: 100,940,090 R1062C probably damaging Het
Cntnap3 A T 13: 64,751,673 probably benign Het
Col20a1 C T 2: 181,007,144 T940I probably damaging Het
Csmd3 A C 15: 47,857,942 M1535R possibly damaging Het
Dhx38 C A 8: 109,558,241 E487* probably null Het
Fam186b A G 15: 99,273,703 S888P probably damaging Het
Fancm G A 12: 65,106,475 G1235D probably benign Het
Grin3a C T 4: 49,792,946 W262* probably null Het
Gtdc1 A T 2: 44,575,443 M305K probably damaging Het
H2-M9 T C 17: 36,641,737 E139G possibly damaging Het
Haus1 A T 18: 77,766,911 L53Q probably damaging Het
Hgfac A G 5: 35,046,587 Y483C probably damaging Het
Hipk2 C T 6: 38,819,134 V67I probably benign Het
Kbtbd8 T C 6: 95,121,732 probably benign Het
Kndc1 A G 7: 139,920,767 T683A probably benign Het
Ldhb A T 6: 142,492,500 M277K probably benign Het
Mgam T C 6: 40,643,076 L33P probably damaging Het
Ndst1 A G 18: 60,699,546 F571L probably benign Het
Neb G T 2: 52,212,804 probably null Het
Nrxn1 A G 17: 90,643,243 S503P probably damaging Het
Scnn1g T C 7: 121,743,699 F292L probably damaging Het
Stk3 A G 15: 35,099,516 F88S probably damaging Het
Tcaf2 T A 6: 42,627,396 E683V probably benign Het
Tprkb T C 6: 85,927,911 V123A probably benign Het
Ush2a T C 1: 188,443,343 Y1213H probably damaging Het
Vwa5b1 A G 4: 138,586,557 probably null Het
Wls A G 3: 159,897,370 Y140C probably damaging Het
Zan A G 5: 137,411,498 S28P possibly damaging Het
Other mutations in Paqr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01459:Paqr3 APN 5 97095937 missense probably benign
IGL01966:Paqr3 APN 5 97099643 missense probably benign 0.21
PIT4618001:Paqr3 UTSW 5 97103471 missense possibly damaging 0.82
R1601:Paqr3 UTSW 5 97111389 missense probably benign 0.01
R2864:Paqr3 UTSW 5 97099736 missense possibly damaging 0.65
R3419:Paqr3 UTSW 5 97099700 missense probably damaging 1.00
R3799:Paqr3 UTSW 5 97111316 missense probably damaging 1.00
R4352:Paqr3 UTSW 5 97099596 missense probably benign 0.05
R4368:Paqr3 UTSW 5 97108291 missense probably damaging 1.00
R4515:Paqr3 UTSW 5 97103361 missense possibly damaging 0.72
R4583:Paqr3 UTSW 5 97108210 nonsense probably null
R4647:Paqr3 UTSW 5 97108210 nonsense probably null
R4648:Paqr3 UTSW 5 97108210 nonsense probably null
R4811:Paqr3 UTSW 5 97095983 missense probably benign 0.00
R4855:Paqr3 UTSW 5 97108194 missense possibly damaging 0.83
R5910:Paqr3 UTSW 5 97096028 splice site probably null
R6053:Paqr3 UTSW 5 97111278 missense probably benign 0.12
R6156:Paqr3 UTSW 5 97108269 missense probably damaging 1.00
R6957:Paqr3 UTSW 5 97108251 missense possibly damaging 0.48
R6974:Paqr3 UTSW 5 97108287 missense probably damaging 1.00
R9201:Paqr3 UTSW 5 97097506 missense possibly damaging 0.89
Posted On 2015-04-16