Incidental Mutation 'IGL02622:Paqr6'
ID300891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Paqr6
Ensembl Gene ENSMUSG00000041423
Gene Nameprogestin and adipoQ receptor family member VI
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02622
Quality Score
Status
Chromosome3
Chromosomal Location88364584-88368541 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 88365778 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 52 (I52S)
Ref Sequence ENSEMBL: ENSMUSP00000114166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001451] [ENSMUST00000075523] [ENSMUST00000107542] [ENSMUST00000107543] [ENSMUST00000147948] [ENSMUST00000147991]
Predicted Effect probably benign
Transcript: ENSMUST00000001451
SMART Domains Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
Pfam:EST1 77 189 1.1e-26 PFAM
Pfam:EST1_DNA_bind 197 427 4.6e-53 PFAM
low complexity region 447 468 N/A INTRINSIC
low complexity region 481 501 N/A INTRINSIC
Pfam:EST1_DNA_bind 611 745 3.7e-9 PFAM
coiled coil region 801 842 N/A INTRINSIC
PINc 856 979 3.23e-15 SMART
low complexity region 990 999 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075523
SMART Domains Protein: ENSMUSP00000074965
Gene: ENSMUSG00000074489

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
GLA 31 91 5.9e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107542
SMART Domains Protein: ENSMUSP00000103166
Gene: ENSMUSG00000074489

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
GLA 31 91 5.9e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107543
SMART Domains Protein: ENSMUSP00000103167
Gene: ENSMUSG00000074489

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
GLA 31 91 5.9e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147818
Predicted Effect probably benign
Transcript: ENSMUST00000147948
AA Change: I52S

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119656
Gene: ENSMUSG00000041423
AA Change: I52S

DomainStartEndE-ValueType
Pfam:HlyIII 59 161 6.8e-18 PFAM
transmembrane domain 180 202 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000147991
AA Change: I52S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114166
Gene: ENSMUSG00000041423
AA Change: I52S

DomainStartEndE-ValueType
Pfam:HlyIII 43 271 5.5e-51 PFAM
transmembrane domain 292 314 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193224
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194359
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik C T 5: 109,739,235 V32M possibly damaging Het
Abca1 T C 4: 53,034,046 D2228G probably damaging Het
Actr5 A G 2: 158,638,808 K582R probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
Atp7b T C 8: 22,028,438 D128G possibly damaging Het
Cemip C A 7: 83,964,175 G605V probably damaging Het
Cep112 A G 11: 108,518,683 H133R probably benign Het
Cops3 C T 11: 59,833,038 D98N probably benign Het
Crlf3 T C 11: 80,059,324 D160G probably damaging Het
Csn1s1 T C 5: 87,677,642 probably null Het
Ddx60 C A 8: 61,942,436 probably null Het
Depdc1a T A 3: 159,515,510 N159K probably benign Het
Dsg3 A T 18: 20,528,947 probably benign Het
Eif4g3 A C 4: 138,097,366 probably benign Het
Ercc6l2 T A 13: 63,853,623 probably null Het
Fbxw19 T A 9: 109,493,534 M123L probably benign Het
Fus T A 7: 127,985,622 L100H probably damaging Het
Gm29247 A G 1: 44,107,109 probably benign Het
Gucy2e T C 11: 69,225,031 T842A probably damaging Het
Inpp4a A T 1: 37,379,034 Q519L probably benign Het
Kcnip1 C A 11: 33,643,290 probably benign Het
Lyst T A 13: 13,681,390 L2432H probably damaging Het
Mastl A G 2: 23,132,845 V622A probably benign Het
Myh15 A G 16: 49,176,954 T1712A probably benign Het
Nlrp1a T C 11: 71,123,000 T475A possibly damaging Het
Nr4a3 G A 4: 48,051,649 M134I probably benign Het
Olfr444 T G 6: 42,955,729 V77G probably damaging Het
Olfr484 T A 7: 108,124,388 I292F probably damaging Het
Olfr554 T A 7: 102,641,083 L279Q probably damaging Het
Pcdhb4 T A 18: 37,309,668 L677Q probably benign Het
Phax C T 18: 56,584,300 R250* probably null Het
Pkn3 A G 2: 30,083,146 D356G probably benign Het
Pnpla2 T C 7: 141,455,372 L29P probably damaging Het
Rad18 G A 6: 112,687,987 T62I probably damaging Het
Riok3 C T 18: 12,142,960 R238C probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sccpdh G T 1: 179,676,460 G125W probably damaging Het
Skint11 T A 4: 114,194,728 L91H probably damaging Het
Slc25a45 A G 19: 5,878,697 probably benign Het
Slco2a1 C T 9: 103,076,929 Q370* probably null Het
Szt2 A G 4: 118,392,890 S474P probably damaging Het
Tchh C A 3: 93,443,412 T53K probably damaging Het
Tiam1 T C 16: 89,798,700 T1298A possibly damaging Het
Tmem161a C T 8: 70,181,237 Q183* probably null Het
Trim26 C A 17: 36,850,905 A72E probably damaging Het
Trmt11 A T 10: 30,559,173 I330K probably benign Het
Tspan1 A G 4: 116,163,855 probably benign Het
Ubr4 C A 4: 139,467,250 C4286* probably null Het
Unc13a T C 8: 71,652,514 probably null Het
Vmn1r20 T A 6: 57,432,598 F303Y probably damaging Het
Washc2 T C 6: 116,214,018 probably benign Het
Xab2 C T 8: 3,611,699 D585N probably benign Het
Ythdc2 C T 18: 44,859,934 L791F probably damaging Het
Zfp319 C A 8: 95,328,961 V205F probably damaging Het
Zscan25 A T 5: 145,290,702 H392L probably damaging Het
Zswim6 A T 13: 107,748,251 noncoding transcript Het
Other mutations in Paqr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02342:Paqr6 APN 3 88366184 missense probably damaging 1.00
PIT4431001:Paqr6 UTSW 3 88365777 missense possibly damaging 0.87
R0883:Paqr6 UTSW 3 88365991 missense probably damaging 1.00
R2369:Paqr6 UTSW 3 88365953 missense probably damaging 1.00
R4705:Paqr6 UTSW 3 88365929 missense probably benign 0.03
R5103:Paqr6 UTSW 3 88367717 nonsense probably null
R5922:Paqr6 UTSW 3 88366237 missense probably benign 0.00
R6292:Paqr6 UTSW 3 88367898 missense probably damaging 1.00
R6364:Paqr6 UTSW 3 88365958 missense probably damaging 0.98
R7023:Paqr6 UTSW 3 88366046 missense probably damaging 1.00
Z1177:Paqr6 UTSW 3 88365709 missense probably damaging 1.00
Posted On2015-04-16