Incidental Mutation 'IGL00897:Paqr4'
ID29235
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Paqr4
Ensembl Gene ENSMUSG00000023909
Gene Nameprogestin and adipoQ receptor family member IV
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.444) question?
Stock #IGL00897
Quality Score
Status
Chromosome17
Chromosomal Location23736186-23740330 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 23737570 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 273 (D273G)
Ref Sequence ENSEMBL: ENSMUSP00000024702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024701] [ENSMUST00000024702] [ENSMUST00000046525]
Predicted Effect probably benign
Transcript: ENSMUST00000024701
SMART Domains Protein: ENSMUSP00000024701
Gene: ENSMUSG00000023908

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 101 347 3.4e-22 PFAM
Pfam:Pkinase 101 350 1.2e-47 PFAM
Pfam:Kinase-like 205 334 6.8e-11 PFAM
low complexity region 397 412 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000024702
AA Change: D273G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000024702
Gene: ENSMUSG00000023909
AA Change: D273G

DomainStartEndE-ValueType
Pfam:HlyIII 43 254 1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000046525
SMART Domains Protein: ENSMUSP00000046369
Gene: ENSMUSG00000040680

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
KR 33 120 2.44e-18 SMART
Pfam:WSC 123 204 1.3e-20 PFAM
CUB 218 325 8.04e-15 SMART
Blast:CUB 351 422 8e-6 BLAST
low complexity region 446 461 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 120,216,125 probably benign Het
Arsi A G 18: 60,912,430 Y64C probably damaging Het
Ascc3 A T 10: 50,728,091 E1302D probably benign Het
Aspm T C 1: 139,477,407 I1344T probably damaging Het
Atp2b1 T C 10: 99,015,020 I924T possibly damaging Het
Ccnb1 A G 13: 100,785,911 probably benign Het
Cps1 A G 1: 67,215,564 D1304G probably benign Het
Ctsq C A 13: 61,037,725 V201F probably damaging Het
Epb41 T A 4: 132,000,197 probably null Het
Fam196b T C 11: 34,403,011 V351A probably benign Het
Fat2 T C 11: 55,289,252 E1421G probably damaging Het
Flt1 T A 5: 147,589,854 Y873F probably benign Het
Fos C T 12: 85,476,346 T344I probably damaging Het
Gm11639 G A 11: 105,100,021 D293N probably damaging Het
Gsdme A G 6: 50,229,284 probably null Het
Inpp5d A G 1: 87,712,114 T846A probably benign Het
Kdm4c T C 4: 74,373,684 M846T probably damaging Het
Lrp2 A G 2: 69,521,881 F604L possibly damaging Het
Mab21l3 C A 3: 101,823,455 R156L probably damaging Het
Mrps9 A G 1: 42,905,459 E379G probably damaging Het
Myo16 T C 8: 10,315,518 L119P probably damaging Het
Neurod2 C T 11: 98,327,769 V190M probably damaging Het
Nprl2 T G 9: 107,545,528 N371K probably benign Het
Nr1d2 A T 14: 18,214,993 C340S probably benign Het
Nsg1 A T 5: 38,144,716 V117D probably damaging Het
Olfr818 A T 10: 129,945,911 D50E possibly damaging Het
Olfr859 T G 9: 19,808,621 V101G probably damaging Het
Plcb4 A G 2: 135,971,798 T686A probably benign Het
Ppp1r8 G A 4: 132,827,902 A335V probably damaging Het
Slc4a2 T A 5: 24,429,559 Y65* probably null Het
Slco3a1 A T 7: 74,504,183 Y214N probably damaging Het
Tmem232 T C 17: 65,256,574 E608G possibly damaging Het
Vmn1r169 A T 7: 23,577,594 Y137F probably damaging Het
Vmn2r97 T C 17: 18,947,659 I725T probably benign Het
Vmn2r98 T A 17: 19,065,745 probably benign Het
Other mutations in Paqr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02063:Paqr4 APN 17 23739912 nonsense probably null
R0212:Paqr4 UTSW 17 23738320 missense probably benign 0.00
R1940:Paqr4 UTSW 17 23737664 missense probably damaging 1.00
R5269:Paqr4 UTSW 17 23738213 missense probably damaging 1.00
R5987:Paqr4 UTSW 17 23739858 critical splice donor site probably null
R6039:Paqr4 UTSW 17 23739994 missense probably damaging 0.98
R6039:Paqr4 UTSW 17 23739994 missense probably damaging 0.98
R6960:Paqr4 UTSW 17 23737723 missense probably benign 0.17
Posted On2013-04-17