Incidental Mutation 'IGL01996:Paqr8'
ID 182887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Paqr8
Ensembl Gene ENSMUSG00000025931
Gene Name progestin and adipoQ receptor family member VIII
Synonyms 1700019B16Rik, 3110001D06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01996
Quality Score
Status
Chromosome 1
Chromosomal Location 20890606-20939650 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20935404 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 261 (F261L)
Ref Sequence ENSEMBL: ENSMUSP00000141054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068880] [ENSMUST00000167119] [ENSMUST00000187651] [ENSMUST00000189400]
AlphaFold Q80ZE5
Predicted Effect probably damaging
Transcript: ENSMUST00000068880
AA Change: F261L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069127
Gene: ENSMUSG00000025931
AA Change: F261L

DomainStartEndE-ValueType
Pfam:HlyIII 70 297 1.7e-47 PFAM
transmembrane domain 319 341 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167119
AA Change: F261L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128781
Gene: ENSMUSG00000025931
AA Change: F261L

DomainStartEndE-ValueType
Pfam:HlyIII 70 297 1.2e-53 PFAM
transmembrane domain 319 341 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000187651
AA Change: F261L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140913
Gene: ENSMUSG00000025931
AA Change: F261L

DomainStartEndE-ValueType
Pfam:HlyIII 70 297 1.7e-47 PFAM
transmembrane domain 319 341 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000189400
AA Change: F261L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141054
Gene: ENSMUSG00000025931
AA Change: F261L

DomainStartEndE-ValueType
Pfam:HlyIII 70 297 1.7e-47 PFAM
transmembrane domain 319 341 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,150,700 V29A possibly damaging Het
Adarb1 A G 10: 77,322,217 L132P probably damaging Het
Afg3l1 T G 8: 123,501,894 M733R probably damaging Het
Aox1 C T 1: 58,082,066 R899C probably benign Het
Arhgap44 T A 11: 65,005,496 probably benign Het
Asns T C 6: 7,682,378 D189G possibly damaging Het
Brap A G 5: 121,678,847 probably benign Het
Ccdc138 T A 10: 58,562,030 L564H probably damaging Het
Ccdc167 A G 17: 29,705,487 probably null Het
Ccdc178 A G 18: 22,097,756 Y353H probably damaging Het
Clca3b A T 3: 144,849,163 S41R probably benign Het
Dpep3 T C 8: 105,974,726 N397S probably damaging Het
Eif1 T C 11: 100,321,000 I83T probably benign Het
Enah A T 1: 181,956,505 W80R unknown Het
F2rl1 C T 13: 95,513,924 C150Y probably damaging Het
Fbxw24 T C 9: 109,605,372 R387G possibly damaging Het
Fsd1l A G 4: 53,647,760 T68A probably benign Het
Greb1 T C 12: 16,690,845 K1412R possibly damaging Het
Grin2b T C 6: 135,732,586 S1321G probably damaging Het
Hist1h4j G A 13: 21,735,138 G15S unknown Het
Itgb7 C T 15: 102,217,977 G508D probably damaging Het
Kcnq3 A G 15: 66,023,696 I333T probably damaging Het
Knl1 A G 2: 119,104,061 D2115G probably damaging Het
Lmtk3 G A 7: 45,793,447 probably null Het
Lrpprc A G 17: 84,773,270 Y176H probably benign Het
Mier1 T C 4: 103,127,276 S22P possibly damaging Het
Mme A T 3: 63,343,549 N337I probably benign Het
Mthfd1 A G 12: 76,303,905 Y687C probably damaging Het
Nrp2 T C 1: 62,749,260 M373T probably damaging Het
Nudcd1 A T 15: 44,405,961 F101Y probably benign Het
Nup133 T A 8: 123,946,595 I66L probably benign Het
Olfr1406 T C 1: 173,183,727 T236A probably benign Het
Olfr378 T A 11: 73,425,968 N5I probably damaging Het
Olfr736 T G 14: 50,393,659 M301R probably damaging Het
Osbpl5 A G 7: 143,707,344 probably null Het
Plxna2 A G 1: 194,799,776 E1452G probably damaging Het
Polh T C 17: 46,173,001 D446G probably benign Het
Psg19 A T 7: 18,790,061 M353K possibly damaging Het
Sap25 T C 5: 137,641,818 probably null Het
Sap30l C T 11: 57,809,951 R144* probably null Het
Sema6b C T 17: 56,131,157 V144M probably damaging Het
Sfmbt2 T C 2: 10,440,026 Y228H probably benign Het
Shank2 A G 7: 144,411,493 D946G probably damaging Het
Slc11a1 T A 1: 74,376,806 L52Q possibly damaging Het
Sptlc3 T C 2: 139,581,504 probably benign Het
Tgfb1i1 T C 7: 128,249,292 probably benign Het
Tifa T C 3: 127,796,580 probably benign Het
Tomm40l C T 1: 171,219,655 V265M possibly damaging Het
Trim45 C A 3: 100,928,109 Y469* probably null Het
Ttc21a G T 9: 119,958,116 A730S probably damaging Het
Vmn1r18 A T 6: 57,390,016 D184E possibly damaging Het
Vmn2r120 A T 17: 57,525,222 I189N possibly damaging Het
Other mutations in Paqr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02720:Paqr8 APN 1 20935509 nonsense probably null
LCD18:Paqr8 UTSW 1 20914658 intron probably benign
R0190:Paqr8 UTSW 1 20935047 missense probably benign 0.00
R0566:Paqr8 UTSW 1 20935463 missense possibly damaging 0.63
R1491:Paqr8 UTSW 1 20934824 missense probably benign
R1885:Paqr8 UTSW 1 20935480 missense probably damaging 1.00
R3195:Paqr8 UTSW 1 20935033 missense probably damaging 1.00
R3751:Paqr8 UTSW 1 20935632 missense probably benign 0.23
R3752:Paqr8 UTSW 1 20935632 missense probably benign 0.23
R3753:Paqr8 UTSW 1 20935632 missense probably benign 0.23
R4748:Paqr8 UTSW 1 20935413 missense probably benign 0.06
R5207:Paqr8 UTSW 1 20935258 missense probably benign 0.00
R5264:Paqr8 UTSW 1 20935108 missense possibly damaging 0.93
R5267:Paqr8 UTSW 1 20934696 missense probably benign
R7389:Paqr8 UTSW 1 20935165 missense probably damaging 1.00
R7468:Paqr8 UTSW 1 20935218 missense probably damaging 1.00
R8920:Paqr8 UTSW 1 20935021 missense probably damaging 0.99
R9007:Paqr8 UTSW 1 20935390 missense possibly damaging 0.87
R9231:Paqr8 UTSW 1 20935651 missense probably benign
R9266:Paqr8 UTSW 1 20935639 missense probably benign
R9313:Paqr8 UTSW 1 20934904 nonsense probably null
Z1176:Paqr8 UTSW 1 20934798 missense probably damaging 0.99
Posted On 2014-05-07