Incidental Mutation 'IGL02893:Paqr5'
ID363296
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Paqr5
Ensembl Gene ENSMUSG00000032278
Gene Nameprogestin and adipoQ receptor family member V
Synonyms0610010I15Rik, mPRg
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.248) question?
Stock #IGL02893
Quality Score
Status
Chromosome9
Chromosomal Location61953481-62026856 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 61968868 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 128 (A128V)
Ref Sequence ENSEMBL: ENSMUSP00000109623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034817] [ENSMUST00000113990]
Predicted Effect probably benign
Transcript: ENSMUST00000034817
AA Change: A142V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034817
Gene: ENSMUSG00000032278
AA Change: A142V

DomainStartEndE-ValueType
Pfam:HlyIII 43 269 1.6e-59 PFAM
transmembrane domain 295 317 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113990
AA Change: A128V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109623
Gene: ENSMUSG00000032278
AA Change: A128V

DomainStartEndE-ValueType
Pfam:HlyIII 29 255 6.4e-51 PFAM
transmembrane domain 281 303 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135050
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,290,543 V802A probably damaging Het
Acsl6 G A 11: 54,345,899 V540M probably damaging Het
Ahctf1 A C 1: 179,776,011 Y823* probably null Het
Bbs1 T A 19: 4,897,576 K317* probably null Het
Cand2 T C 6: 115,791,960 L577P probably damaging Het
Cfap44 A T 16: 44,416,817 D449V probably damaging Het
Col28a1 C T 6: 8,103,534 G421S probably damaging Het
Dgkd A G 1: 87,915,208 probably benign Het
Entpd1 T C 19: 40,727,517 V347A probably damaging Het
Etl4 T A 2: 20,760,210 probably benign Het
Fam20a G A 11: 109,721,588 A43V probably benign Het
Fbxo9 A G 9: 78,082,095 probably benign Het
Flg2 C T 3: 93,203,613 R983W unknown Het
Gale T C 4: 135,967,602 V295A probably benign Het
Gpr139 A T 7: 119,145,143 V73D probably damaging Het
Hpca A T 4: 129,118,422 M107K probably damaging Het
Igdcc4 G T 9: 65,133,071 V1002F probably damaging Het
Irx4 T A 13: 73,268,778 L431H probably damaging Het
Lca5l T C 16: 96,178,913 T6A probably benign Het
Lrp4 C T 2: 91,474,816 R263C possibly damaging Het
Meikin G A 11: 54,417,758 C394Y possibly damaging Het
Mmp25 T C 17: 23,644,051 T129A probably damaging Het
Mmp9 A G 2: 164,949,068 probably null Het
Mtmr3 A T 11: 4,507,632 M171K possibly damaging Het
Muc4 C T 16: 32,751,648 H509Y possibly damaging Het
Nwd1 A T 8: 72,667,501 H464L probably damaging Het
Olfr173 A G 16: 58,797,657 L63P probably damaging Het
Pcdhb10 G A 18: 37,413,634 V588M probably damaging Het
Pip A G 6: 41,847,662 D28G probably damaging Het
Rnf31 T A 14: 55,599,109 F800Y probably damaging Het
Sag T G 1: 87,834,593 S327A probably benign Het
Sdf4 T C 4: 155,996,528 probably benign Het
Slc10a6 A T 5: 103,628,873 D120E probably benign Het
Spata31d1d T A 13: 59,725,979 K1247N possibly damaging Het
Stam2 A G 2: 52,714,902 V207A probably damaging Het
Sytl3 T C 17: 6,732,974 L181P probably damaging Het
Tbc1d32 T C 10: 56,017,703 E1258G probably damaging Het
Tmem63b T G 17: 45,661,900 H656P probably damaging Het
Tmem69 T A 4: 116,553,729 M15L probably benign Het
Tmprss7 T A 16: 45,669,528 I444F possibly damaging Het
Ttbk2 C A 2: 120,783,729 R168L probably damaging Het
Ttc28 A G 5: 111,285,385 Y2095C possibly damaging Het
Ube3c A G 5: 29,632,763 Y643C probably damaging Het
Ywhaq G A 12: 21,396,409 A152V probably damaging Het
Zeb2 T A 2: 44,996,607 I813F probably benign Het
Other mutations in Paqr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03190:Paqr5 APN 9 61972802 missense probably damaging 0.97
PIT4480001:Paqr5 UTSW 9 61956156 missense probably benign 0.09
R0528:Paqr5 UTSW 9 61956245 missense probably damaging 1.00
R0686:Paqr5 UTSW 9 61972794 missense probably benign 0.00
R0688:Paqr5 UTSW 9 61972794 missense probably benign 0.00
R1323:Paqr5 UTSW 9 61961528 critical splice donor site probably null
R1323:Paqr5 UTSW 9 61961528 critical splice donor site probably null
R2872:Paqr5 UTSW 9 61968779 critical splice donor site probably null
R2872:Paqr5 UTSW 9 61968779 critical splice donor site probably null
R5663:Paqr5 UTSW 9 61968862 missense probably benign 0.03
R6726:Paqr5 UTSW 9 61963783 missense probably damaging 1.00
R6728:Paqr5 UTSW 9 61963783 missense probably damaging 1.00
R6795:Paqr5 UTSW 9 61963783 missense probably damaging 1.00
R6796:Paqr5 UTSW 9 61963783 missense probably damaging 1.00
R6809:Paqr5 UTSW 9 61968782 missense probably null 1.00
R6857:Paqr5 UTSW 9 61976088 missense probably damaging 1.00
R6967:Paqr5 UTSW 9 61972831 nonsense probably null
Posted On2015-12-18