Incidental Mutation 'R1222:Qrfpr'
ID 152740
Institutional Source Beutler Lab
Gene Symbol Qrfpr
Ensembl Gene ENSMUSG00000058400
Gene Name pyroglutamylated RFamide peptide receptor
Synonyms AQ27, Gpr103
MMRRC Submission 039291-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1222 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 36233575-36276462 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36234244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 366 (G366W)
Ref Sequence ENSEMBL: ENSMUSP00000088768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091227] [ENSMUST00000197447]
AlphaFold P83861
Predicted Effect probably damaging
Transcript: ENSMUST00000091227
AA Change: G366W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000088768
Gene: ENSMUSG00000058400
AA Change: G366W

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 56 347 3.6e-8 PFAM
Pfam:7tm_1 62 332 4.5e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197447
SMART Domains Protein: ENSMUSP00000143773
Gene: ENSMUSG00000058400

DomainStartEndE-ValueType
low complexity region 40 61 N/A INTRINSIC
Pfam:7tm_1 62 229 1.1e-35 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 96% (54/56)
MGI Phenotype PHENOTYPE: Mice homozygous for a mutation diisplay kyphosis with abnormal vertebrae morphology and development including osteopenia of the vertebrae. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,784,682 (GRCm39) L385* probably null Het
Abca9 T C 11: 110,035,890 (GRCm39) probably benign Het
Abl1 T C 2: 31,691,006 (GRCm39) S842P probably benign Het
Agrn C A 4: 156,261,842 (GRCm39) V483L probably damaging Het
Ankrd13a T A 5: 114,938,824 (GRCm39) C365* probably null Het
Ap2b1 T C 11: 83,237,564 (GRCm39) S543P probably benign Het
Atic C T 1: 71,598,438 (GRCm39) T67I probably damaging Het
Bhmt1b A G 18: 87,775,458 (GRCm39) K327R probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cux1 C T 5: 136,304,003 (GRCm39) R1391Q probably benign Het
Cyp2a4 T C 7: 26,008,013 (GRCm39) V140A possibly damaging Het
Dlgap3 A T 4: 127,088,406 (GRCm39) M1L probably null Het
Dnah3 T C 7: 119,689,899 (GRCm39) D2G probably benign Het
Erbb3 A C 10: 128,407,534 (GRCm39) V938G probably damaging Het
Fam13a C T 6: 58,912,707 (GRCm39) probably benign Het
Gata2 G A 6: 88,177,323 (GRCm39) V118I probably benign Het
Gm2663 T C 6: 40,972,975 (GRCm39) I211V probably benign Het
Izumo3 T A 4: 92,033,284 (GRCm39) N104I probably damaging Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Mctp2 T A 7: 71,908,887 (GRCm39) H142L probably benign Het
Mmp10 T C 9: 7,505,682 (GRCm39) probably benign Het
Mroh8 G A 2: 157,083,774 (GRCm39) probably benign Het
Mylk T C 16: 34,681,022 (GRCm39) V94A probably benign Het
Nol6 A T 4: 41,120,760 (GRCm39) N396K probably benign Het
Nr4a2 A T 2: 56,998,336 (GRCm39) N543K probably damaging Het
Nynrin T C 14: 56,100,998 (GRCm39) S263P probably benign Het
Or10ag53 G T 2: 87,082,766 (GRCm39) G162C probably benign Het
Or1e35 A T 11: 73,798,240 (GRCm39) L26H probably damaging Het
Or5p68 T A 7: 107,945,313 (GRCm39) I292F probably damaging Het
Or7d10 G A 9: 19,832,344 (GRCm39) V280I possibly damaging Het
Pkhd1 T A 1: 20,637,680 (GRCm39) R368S probably benign Het
Plekhg4 G A 8: 106,105,742 (GRCm39) A736T probably benign Het
Plxna2 A G 1: 194,482,957 (GRCm39) D1550G probably damaging Het
Qser1 C A 2: 104,607,776 (GRCm39) A1471S probably damaging Het
Rars1 A T 11: 35,700,567 (GRCm39) Y505N probably damaging Het
Reln T A 5: 22,191,953 (GRCm39) T1496S probably null Het
Rrs1 T C 1: 9,616,080 (GRCm39) L111P probably benign Het
Selplg C T 5: 113,957,434 (GRCm39) V291M possibly damaging Het
Serpinb1c T A 13: 33,080,934 (GRCm39) T50S possibly damaging Het
Slc4a5 A G 6: 83,257,114 (GRCm39) K640E probably damaging Het
Szt2 A T 4: 118,262,656 (GRCm39) H40Q possibly damaging Het
Taar4 C T 10: 23,837,230 (GRCm39) T280I probably benign Het
Tdo2 A G 3: 81,868,775 (GRCm39) probably null Het
Tpp1 T C 7: 105,395,948 (GRCm39) N527S probably benign Het
Trim43c A T 9: 88,725,131 (GRCm39) T218S possibly damaging Het
Trim45 G T 3: 100,834,614 (GRCm39) M432I probably benign Het
Ubr4 T C 4: 139,115,782 (GRCm39) probably null Het
Vat1l T C 8: 115,009,101 (GRCm39) probably benign Het
Xpo7 A T 14: 70,904,524 (GRCm39) H1037Q possibly damaging Het
Zmiz1 T C 14: 25,658,520 (GRCm39) probably benign Het
Other mutations in Qrfpr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01935:Qrfpr APN 3 36,235,200 (GRCm39) splice site probably null
IGL02274:Qrfpr APN 3 36,276,285 (GRCm39) missense probably damaging 0.98
R0382:Qrfpr UTSW 3 36,235,118 (GRCm39) missense possibly damaging 0.73
R0398:Qrfpr UTSW 3 36,235,201 (GRCm39) splice site probably benign
R0631:Qrfpr UTSW 3 36,276,138 (GRCm39) missense probably damaging 1.00
R0690:Qrfpr UTSW 3 36,243,708 (GRCm39) missense probably damaging 1.00
R1413:Qrfpr UTSW 3 36,236,809 (GRCm39) missense possibly damaging 0.92
R1418:Qrfpr UTSW 3 36,234,244 (GRCm39) missense probably damaging 1.00
R1500:Qrfpr UTSW 3 36,236,729 (GRCm39) missense probably damaging 1.00
R2037:Qrfpr UTSW 3 36,236,806 (GRCm39) missense probably damaging 0.99
R3924:Qrfpr UTSW 3 36,276,072 (GRCm39) missense possibly damaging 0.71
R3925:Qrfpr UTSW 3 36,276,072 (GRCm39) missense possibly damaging 0.71
R3966:Qrfpr UTSW 3 36,235,149 (GRCm39) missense possibly damaging 0.73
R4298:Qrfpr UTSW 3 36,243,703 (GRCm39) missense probably damaging 1.00
R4751:Qrfpr UTSW 3 36,236,771 (GRCm39) missense possibly damaging 0.67
R4760:Qrfpr UTSW 3 36,276,073 (GRCm39) missense probably benign 0.34
R4989:Qrfpr UTSW 3 36,276,285 (GRCm39) missense probably damaging 0.98
R5548:Qrfpr UTSW 3 36,276,075 (GRCm39) missense possibly damaging 0.84
R5607:Qrfpr UTSW 3 36,235,114 (GRCm39) missense possibly damaging 0.55
R5608:Qrfpr UTSW 3 36,235,114 (GRCm39) missense possibly damaging 0.55
R6027:Qrfpr UTSW 3 36,276,187 (GRCm39) missense probably benign 0.44
R6115:Qrfpr UTSW 3 36,236,742 (GRCm39) missense possibly damaging 0.51
R6546:Qrfpr UTSW 3 36,234,414 (GRCm39) missense probably damaging 1.00
R6714:Qrfpr UTSW 3 36,234,405 (GRCm39) missense possibly damaging 0.81
R7080:Qrfpr UTSW 3 36,234,198 (GRCm39) missense probably benign 0.04
R7833:Qrfpr UTSW 3 36,243,751 (GRCm39) missense probably benign
R8796:Qrfpr UTSW 3 36,234,345 (GRCm39) missense probably damaging 1.00
R9032:Qrfpr UTSW 3 36,276,099 (GRCm39) missense probably damaging 1.00
R9085:Qrfpr UTSW 3 36,276,099 (GRCm39) missense probably damaging 1.00
R9121:Qrfpr UTSW 3 36,235,156 (GRCm39) missense probably damaging 1.00
R9522:Qrfpr UTSW 3 36,236,676 (GRCm39) missense probably damaging 1.00
Z1176:Qrfpr UTSW 3 36,236,759 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGTTCATGTCCACTGCCGAAAG -3'
(R):5'- ACGCCACACTGTGTAGGTAAGAAAG -3'

Sequencing Primer
(F):5'- CACTGCCGAAAGTAGAGTTTTCAG -3'
(R):5'- GTTTCTGAATAATCAGATTCCTGCC -3'
Posted On 2014-01-29