Incidental Mutation 'IGL01966:Paqr3'
ID 181548
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: 0.093) question?
Stock # IGL01966
Quality Score
Status
Chromosome 5
Chromosomal Location 97082329-97111596 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97099643 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 202 (L202P)
Ref Sequence ENSEMBL: ENSMUSP00000108593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069453] [ENSMUST00000112968] [ENSMUST00000112969] [ENSMUST00000196078]
AlphaFold Q6TCG8
Predicted Effect probably benign
Transcript: ENSMUST00000069453
AA Change: L202P

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000069324
Gene: ENSMUSG00000055725
AA Change: L202P

DomainStartEndE-ValueType
Pfam:HlyIII 64 289 3.4e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112968
SMART Domains Protein: ENSMUSP00000108592
Gene: ENSMUSG00000055725

DomainStartEndE-ValueType
Pfam:HlyIII 64 171 1.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112969
AA Change: L202P

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108593
Gene: ENSMUSG00000055725
AA Change: L202P

DomainStartEndE-ValueType
Pfam:HlyIII 64 289 1.4e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132127
Predicted Effect probably benign
Transcript: ENSMUST00000196078
AA Change: L181P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000142871
Gene: ENSMUSG00000055725
AA Change: L181P

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik A G 4: 155,734,069 probably null Het
Acer2 T A 4: 86,917,578 *230R probably null Het
Adamts12 A G 15: 11,258,183 K527E probably damaging Het
Anks1b C A 10: 90,895,132 R937S probably damaging Het
C2cd5 G T 6: 143,012,041 C989* probably null Het
Col14a1 A G 15: 55,448,725 probably benign Het
Cramp1l T A 17: 24,982,943 T522S probably benign Het
Cyp2c70 A T 19: 40,153,572 probably benign Het
Elmod1 T A 9: 53,921,327 I224F probably benign Het
Emx2 T A 19: 59,459,589 I24N possibly damaging Het
Fam26e T C 10: 34,096,133 H102R probably benign Het
Fga A T 3: 83,029,154 I86F probably damaging Het
Fig4 C A 10: 41,232,102 probably null Het
Gm10234 T C 6: 95,322,137 probably null Het
Gm12588 A T 11: 121,906,735 I96N probably benign Het
Grm3 A G 5: 9,511,486 I788T probably damaging Het
Homer3 A G 8: 70,290,157 K173E probably damaging Het
Kansl1l A G 1: 66,738,068 V635A probably damaging Het
Kctd3 C T 1: 188,992,662 G241R probably damaging Het
Krt8 G T 15: 101,997,670 S423R probably benign Het
Lrrc24 C A 15: 76,718,311 A125S probably benign Het
Muc4 T C 16: 32,751,426 S435P possibly damaging Het
Nfkb2 G A 19: 46,309,690 G502D probably benign Het
Nlrp6 G A 7: 140,925,190 C750Y probably damaging Het
Olfr904 A T 9: 38,464,929 D296V possibly damaging Het
Oxsm T C 14: 16,242,520 N83S probably benign Het
Pcdh10 T A 3: 45,380,298 L349Q probably benign Het
Ptdss2 A G 7: 141,135,391 T29A possibly damaging Het
Rbbp8nl G A 2: 180,280,989 probably benign Het
Rc3h2 A G 2: 37,382,777 probably benign Het
Ric1 A T 19: 29,595,563 Y801F probably benign Het
Sgcz A T 8: 37,640,015 S114R probably damaging Het
Tenm4 A G 7: 96,553,550 D124G probably damaging Het
Zscan22 T G 7: 12,906,471 M214R probably benign Het
Other mutations in Paqr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01459:Paqr3 APN 5 97095937 missense probably benign
IGL02133:Paqr3 APN 5 97095931 missense probably benign
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 2014-05-07