Incidental Mutation 'R9007:Paqr8'
ID 685338
Institutional Source Beutler Lab
Gene Symbol Paqr8
Ensembl Gene ENSMUSG00000025931
Gene Name progestin and adipoQ receptor family member VIII
Synonyms 1700019B16Rik, 3110001D06Rik
MMRRC Submission 068837-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9007 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 20960830-21009874 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21005614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 256 (L256P)
Ref Sequence ENSEMBL: ENSMUSP00000069127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068880] [ENSMUST00000167119] [ENSMUST00000187651] [ENSMUST00000189400]
AlphaFold Q80ZE5
Predicted Effect possibly damaging
Transcript: ENSMUST00000068880
AA Change: L256P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069127
Gene: ENSMUSG00000025931
AA Change: L256P

DomainStartEndE-ValueType
Pfam:HlyIII 70 297 1.7e-47 PFAM
transmembrane domain 319 341 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000167119
AA Change: L256P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128781
Gene: ENSMUSG00000025931
AA Change: L256P

DomainStartEndE-ValueType
Pfam:HlyIII 70 297 1.2e-53 PFAM
transmembrane domain 319 341 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000187651
AA Change: L256P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140913
Gene: ENSMUSG00000025931
AA Change: L256P

DomainStartEndE-ValueType
Pfam:HlyIII 70 297 1.7e-47 PFAM
transmembrane domain 319 341 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000189400
AA Change: L256P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141054
Gene: ENSMUSG00000025931
AA Change: L256P

DomainStartEndE-ValueType
Pfam:HlyIII 70 297 1.7e-47 PFAM
transmembrane domain 319 341 N/A INTRINSIC
Meta Mutation Damage Score 0.8696 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,226,935 (GRCm39) C497S probably benign Het
4930453N24Rik A T 16: 64,589,377 (GRCm39) Y92* probably null Het
Adam3 A G 8: 25,205,127 (GRCm39) V117A probably benign Het
Amer2 G C 14: 60,617,376 (GRCm39) D524H probably damaging Het
Armh4 T A 14: 50,011,695 (GRCm39) D4V probably damaging Het
Atp6v0a4 T C 6: 38,029,988 (GRCm39) K692R probably benign Het
Atp8b1 A G 18: 64,684,931 (GRCm39) V730A probably benign Het
Bdh2 T C 3: 134,991,309 (GRCm39) probably benign Het
Ccnd3 T A 17: 47,905,332 (GRCm39) probably null Het
Chrm4 T C 2: 91,758,075 (GRCm39) V161A possibly damaging Het
Csmd3 T C 15: 47,751,892 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,087,930 (GRCm39) S349P probably benign Het
Ddx55 A G 5: 124,697,370 (GRCm39) N244S probably damaging Het
Dock1 A G 7: 134,500,825 (GRCm39) probably benign Het
Dppa3 T C 6: 122,605,724 (GRCm39) S93P probably damaging Het
Echdc1 T C 10: 29,220,426 (GRCm39) I217T probably damaging Het
Fpr-rs4 T A 17: 18,242,416 (GRCm39) L141Q probably damaging Het
Galnt15 T C 14: 31,771,935 (GRCm39) F451L probably damaging Het
Galnt9 G A 5: 110,692,665 (GRCm39) R33H probably benign Het
Iah1 G A 12: 21,367,402 (GRCm39) G36D probably damaging Het
Jakmip1 A G 5: 37,332,857 (GRCm39) D1179G probably benign Het
Kcnh1 A G 1: 192,188,055 (GRCm39) T866A probably benign Het
Kcnq4 T A 4: 120,555,150 (GRCm39) I678F probably benign Het
Lars2 A T 9: 123,260,980 (GRCm39) R384* probably null Het
Lman2 T C 13: 55,500,773 (GRCm39) D142G probably damaging Het
Lrp1b T C 2: 40,587,564 (GRCm39) D3897G Het
Lrrn1 T A 6: 107,544,820 (GRCm39) I206N probably damaging Het
Mapkbp1 T A 2: 119,850,143 (GRCm39) L802H probably damaging Het
Meaf6 T C 4: 125,001,450 (GRCm39) probably benign Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mis18bp1 G A 12: 65,180,616 (GRCm39) S955L probably benign Het
Mocs1 T A 17: 49,756,819 (GRCm39) M267K probably damaging Het
Mroh3 T A 1: 136,128,110 (GRCm39) Y263F probably damaging Het
Ndufs1 A T 1: 63,198,878 (GRCm39) probably benign Het
Nuak1 T C 10: 84,210,492 (GRCm39) Y532C probably damaging Het
Or51b6 A G 7: 103,556,165 (GRCm39) H170R Het
Or6c205 A T 10: 129,086,669 (GRCm39) T89S possibly damaging Het
Ost4 A G 5: 31,064,866 (GRCm39) V5A possibly damaging Het
P2rx1 T A 11: 72,900,059 (GRCm39) C159S probably damaging Het
Pgls T A 8: 72,048,689 (GRCm39) probably benign Het
Pkd2l1 T C 19: 44,140,864 (GRCm39) E566G possibly damaging Het
Plau A T 14: 20,889,613 (GRCm39) H226L probably damaging Het
Rps18-ps5 A G 13: 28,441,872 (GRCm39) N85S probably damaging Het
Rraga T C 4: 86,494,675 (GRCm39) S174P probably damaging Het
Sacs T A 14: 61,445,185 (GRCm39) D2410E probably benign Het
Sgms1 A T 19: 32,137,227 (GRCm39) M113K probably benign Het
Skint6 C A 4: 113,095,347 (GRCm39) G104V probably damaging Het
Spata31f1e C T 4: 42,792,546 (GRCm39) G529S probably benign Het
Sqor T A 2: 122,649,876 (GRCm39) Y373* probably null Het
Stra6l T A 4: 45,864,910 (GRCm39) S79T possibly damaging Het
Svep1 T C 4: 58,091,915 (GRCm39) I1573M possibly damaging Het
Syne2 A G 12: 76,146,224 (GRCm39) D1674G possibly damaging Het
Tex26 C A 5: 149,376,884 (GRCm39) T91N probably damaging Het
Tigd2 T G 6: 59,187,887 (GRCm39) S251R probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tnks1bp1 T A 2: 84,901,048 (GRCm39) L1585Q probably damaging Het
Trmt10c A G 16: 55,855,542 (GRCm39) V31A probably benign Het
Ttc41 T C 10: 86,569,625 (GRCm39) S668P probably damaging Het
Uggt2 A T 14: 119,326,724 (GRCm39) D162E probably damaging Het
Vmn1r125 G C 7: 21,006,503 (GRCm39) V134L probably benign Het
Vmn1r225 T A 17: 20,723,449 (GRCm39) F297I probably damaging Het
Vps13c A G 9: 67,845,006 (GRCm39) D2030G probably benign Het
Other mutations in Paqr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01996:Paqr8 APN 1 21,005,628 (GRCm39) missense probably damaging 1.00
IGL02720:Paqr8 APN 1 21,005,733 (GRCm39) nonsense probably null
LCD18:Paqr8 UTSW 1 20,984,882 (GRCm39) intron probably benign
R0190:Paqr8 UTSW 1 21,005,271 (GRCm39) missense probably benign 0.00
R0566:Paqr8 UTSW 1 21,005,687 (GRCm39) missense possibly damaging 0.63
R1491:Paqr8 UTSW 1 21,005,048 (GRCm39) missense probably benign
R1885:Paqr8 UTSW 1 21,005,704 (GRCm39) missense probably damaging 1.00
R3195:Paqr8 UTSW 1 21,005,257 (GRCm39) missense probably damaging 1.00
R3751:Paqr8 UTSW 1 21,005,856 (GRCm39) missense probably benign 0.23
R3752:Paqr8 UTSW 1 21,005,856 (GRCm39) missense probably benign 0.23
R3753:Paqr8 UTSW 1 21,005,856 (GRCm39) missense probably benign 0.23
R4748:Paqr8 UTSW 1 21,005,637 (GRCm39) missense probably benign 0.06
R5207:Paqr8 UTSW 1 21,005,482 (GRCm39) missense probably benign 0.00
R5264:Paqr8 UTSW 1 21,005,332 (GRCm39) missense possibly damaging 0.93
R5267:Paqr8 UTSW 1 21,004,920 (GRCm39) missense probably benign
R7389:Paqr8 UTSW 1 21,005,389 (GRCm39) missense probably damaging 1.00
R7468:Paqr8 UTSW 1 21,005,442 (GRCm39) missense probably damaging 1.00
R8920:Paqr8 UTSW 1 21,005,245 (GRCm39) missense probably damaging 0.99
R9231:Paqr8 UTSW 1 21,005,875 (GRCm39) missense probably benign
R9266:Paqr8 UTSW 1 21,005,863 (GRCm39) missense probably benign
R9313:Paqr8 UTSW 1 21,005,128 (GRCm39) nonsense probably null
Z1176:Paqr8 UTSW 1 21,005,022 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCTTCTATAGCTCCGACCAGGC -3'
(R):5'- AGGAAGATCTCATGGCGTCC -3'

Sequencing Primer
(F):5'- GTTATGCCAAGTATCGCTACCG -3'
(R):5'- ATCTCATGGCGTCCCTGGTAG -3'
Posted On 2021-10-11