Incidental Mutation 'R6714:Qrfpr'
ID 529245
Institutional Source Beutler Lab
Gene Symbol Qrfpr
Ensembl Gene ENSMUSG00000058400
Gene Name pyroglutamylated RFamide peptide receptor
Synonyms AQ27, Gpr103
MMRRC Submission 044832-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6714 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 36233575-36276462 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36234405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 312 (M312K)
Ref Sequence ENSEMBL: ENSMUSP00000088768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091227] [ENSMUST00000197447]
AlphaFold P83861
Predicted Effect possibly damaging
Transcript: ENSMUST00000091227
AA Change: M312K

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000088768
Gene: ENSMUSG00000058400
AA Change: M312K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (48/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC061237 A T 14: 44,741,639 (GRCm39) R127S possibly damaging Het
Bub1 C A 2: 127,656,652 (GRCm39) M463I probably benign Het
Cdh23 T C 10: 60,167,609 (GRCm39) I1794V possibly damaging Het
Clspn C T 4: 126,459,561 (GRCm39) T320M probably damaging Het
Coch A C 12: 51,649,520 (GRCm39) D277A probably damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Dnah7c A T 1: 46,779,966 (GRCm39) I3223F probably damaging Het
E2f6 G A 12: 16,869,003 (GRCm39) V109I probably damaging Het
Edem2 A T 2: 155,570,809 (GRCm39) probably null Het
Efcab8 A G 2: 153,631,130 (GRCm39) K187E probably damaging Het
Fam184a T C 10: 53,574,979 (GRCm39) N210S probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fsip2 A G 2: 82,809,878 (GRCm39) I2066V probably benign Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gpc5 C T 14: 115,789,715 (GRCm39) Q530* probably null Het
Hmcn1 A T 1: 150,579,926 (GRCm39) I1937K probably damaging Het
Hpx G A 7: 105,244,302 (GRCm39) R269C probably damaging Het
Ice1 T C 13: 70,763,382 (GRCm39) probably null Het
Kbtbd4 A T 2: 90,736,183 (GRCm39) probably benign Het
Ldlrad3 T C 2: 101,783,297 (GRCm39) T310A probably benign Het
Lrp4 G A 2: 91,306,710 (GRCm39) S341N possibly damaging Het
Map3k3 T C 11: 106,005,048 (GRCm39) V69A possibly damaging Het
Myh8 T C 11: 67,197,775 (GRCm39) Y1881H probably damaging Het
Nectin4 A T 1: 171,198,218 (GRCm39) probably benign Het
Nhsl1 G T 10: 18,400,459 (GRCm39) V562L possibly damaging Het
Or4k5 A T 14: 50,385,671 (GRCm39) I220K possibly damaging Het
Or6c205 T A 10: 129,086,809 (GRCm39) N135K possibly damaging Het
Pcdhga7 T A 18: 37,850,330 (GRCm39) V779E probably benign Het
Peg12 T A 7: 62,113,317 (GRCm39) H260L unknown Het
Rbl2 T A 8: 91,833,415 (GRCm39) I730N possibly damaging Het
Rbm39 G C 2: 156,003,538 (GRCm39) L281V possibly damaging Het
Setd1b A G 5: 123,295,654 (GRCm39) E1074G unknown Het
Sfr1 A G 19: 47,723,405 (GRCm39) D303G probably damaging Het
Slc7a12 T C 3: 14,546,380 (GRCm39) V175A probably benign Het
Slc8a1 A T 17: 81,715,678 (GRCm39) L785Q probably damaging Het
Spdl1 T A 11: 34,713,830 (GRCm39) probably null Het
Spg11 T C 2: 121,926,212 (GRCm39) I694M probably damaging Het
Tasor2 A T 13: 3,644,189 (GRCm39) F143L probably benign Het
Trpc1 A T 9: 95,605,326 (GRCm39) L111Q probably damaging Het
Tti1 A G 2: 157,848,971 (GRCm39) V756A possibly damaging Het
Unc93a2 T G 17: 7,643,937 (GRCm39) E124A probably benign Het
Usp32 A T 11: 84,917,696 (GRCm39) I777N probably damaging Het
Zbtb8b C T 4: 129,326,776 (GRCm39) E97K probably damaging Het
Zfhx4 A G 3: 5,306,897 (GRCm39) D41G probably damaging Het
Zfp493 A T 13: 67,934,499 (GRCm39) S151C probably benign Het
Zfp503 T C 14: 22,035,825 (GRCm39) T364A probably benign Het
Zfp507 T C 7: 35,487,152 (GRCm39) K772R probably damaging Het
Zfp804b T A 5: 6,819,239 (GRCm39) M1275L probably benign Het
Zfp811 G A 17: 33,016,736 (GRCm39) H434Y probably damaging 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
R1222:Qrfpr UTSW 3 36,234,244 (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
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'- TGAAATCCCAGAATTTCCAGGC -3'
(R):5'- AGTTGTGGGTCCAGTAACATACAC -3'

Sequencing Primer
(F):5'- GAAATCCCAGAATTTCCAGGCTTCTG -3'
(R):5'- CGCCACACTGTGTAGGTAAG -3'
Posted On 2018-07-24