Incidental Mutation 'R2037:Qrfpr'
ID 224737
Institutional Source Beutler Lab
Gene Symbol Qrfpr
Ensembl Gene ENSMUSG00000058400
Gene Name pyroglutamylated RFamide peptide receptor
Synonyms AQ27, Gpr103
MMRRC Submission 040044-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2037 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 36233575-36276462 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36236806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 198 (H198Q)
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: H198Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088768
Gene: ENSMUSG00000058400
AA Change: H198Q

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 56 347 3.6e-8 PFAM
Pfam:7tm_1 62 332 4.5e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000197447
AA Change: H198Q

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143773
Gene: ENSMUSG00000058400
AA Change: H198Q

DomainStartEndE-ValueType
low complexity region 40 61 N/A INTRINSIC
Pfam:7tm_1 62 229 1.1e-35 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,980,810 (GRCm39) probably null Het
AI987944 T C 7: 41,023,815 (GRCm39) Y391C probably benign Het
Ankfn1 A T 11: 89,346,946 (GRCm39) S296T probably benign Het
Apob A G 12: 8,057,488 (GRCm39) D1957G probably benign Het
Baz1a G T 12: 54,976,431 (GRCm39) P415Q probably damaging Het
Brca2 T A 5: 150,464,134 (GRCm39) H1299Q probably benign Het
C7 G T 15: 5,063,720 (GRCm39) S227* probably null Het
Catsperb A T 12: 101,474,221 (GRCm39) R306S probably damaging Het
Cbx3 T A 6: 51,448,793 (GRCm39) probably null Het
Ccnt2 A G 1: 127,731,136 (GRCm39) Y671C probably damaging Het
Crocc A G 4: 140,774,253 (GRCm39) probably null Het
Ctr9 G A 7: 110,646,014 (GRCm39) V669I probably benign Het
Dck T G 5: 88,920,576 (GRCm39) Y99D probably damaging Het
Ddx52 T A 11: 83,835,432 (GRCm39) D119E probably benign Het
Dnah10 A T 5: 124,823,768 (GRCm39) K596N probably benign Het
Dnah7a A T 1: 53,621,741 (GRCm39) V1128E probably benign Het
Dph1 A T 11: 75,076,679 (GRCm39) probably null Het
Enah G A 1: 181,749,537 (GRCm39) P415L probably damaging Het
Enthd1 A G 15: 80,444,550 (GRCm39) S2P possibly damaging Het
Erc1 A C 6: 119,699,216 (GRCm39) V802G possibly damaging Het
F8 ATCTCTCTC ATCTCTC X: 74,366,604 (GRCm39) probably null Het
Fam169a C A 13: 97,243,600 (GRCm39) A210E probably benign Het
Fcmr A G 1: 130,806,070 (GRCm39) D342G possibly damaging Het
Fgfr4 T G 13: 55,315,702 (GRCm39) V743G possibly damaging Het
Fsip2 A G 2: 82,808,856 (GRCm39) D1725G probably damaging Het
Heatr5b A T 17: 79,136,934 (GRCm39) C195* probably null Het
Herc2 G A 7: 55,855,709 (GRCm39) A3882T probably damaging Het
Il20 T A 1: 130,836,115 (GRCm39) N143Y probably damaging Het
Inpp5b A G 4: 124,692,092 (GRCm39) S892G probably damaging Het
Ipo13 A T 4: 117,761,858 (GRCm39) Y447* probably null Het
Itprid1 A G 6: 55,874,860 (GRCm39) N270S probably benign Het
Kbtbd12 A T 6: 88,594,779 (GRCm39) N350K probably benign Het
Kiz T C 2: 146,811,880 (GRCm39) F663S probably damaging Het
Matn2 A G 15: 34,433,263 (GRCm39) D870G probably benign Het
Methig1 C T 15: 100,251,467 (GRCm39) A126V probably benign Het
Mme A G 3: 63,235,681 (GRCm39) D209G probably null Het
Mroh4 A G 15: 74,481,610 (GRCm39) F811L possibly damaging Het
Myo9b G T 8: 71,743,510 (GRCm39) K190N probably damaging Het
Ncf1 T C 5: 134,258,406 (GRCm39) I6V probably damaging Het
Nmt2 T C 2: 3,310,618 (GRCm39) F121L probably damaging Het
Nol10 A G 12: 17,411,152 (GRCm39) D183G probably benign Het
Nsun7 T C 5: 66,418,429 (GRCm39) V53A probably benign Het
Or10u4 T C 10: 129,802,009 (GRCm39) I187V probably benign Het
Or8j3 T C 2: 86,028,176 (GRCm39) S307G probably benign Het
Or8k22 T C 2: 86,162,774 (GRCm39) N309D probably benign Het
Pappa2 A T 1: 158,784,214 (GRCm39) Y265* probably null Het
Pigg G A 5: 108,486,518 (GRCm39) A724T probably damaging Het
Pik3r4 C T 9: 105,527,534 (GRCm39) R296C probably benign Het
Pkhd1l1 A G 15: 44,431,617 (GRCm39) probably null Het
Pld4 A G 12: 112,734,992 (GRCm39) D483G probably damaging Het
Ppip5k1 C T 2: 121,173,674 (GRCm39) R399H probably damaging Het
Rasgrf2 A T 13: 92,050,748 (GRCm39) D883E probably damaging Het
Retnlg T C 16: 48,694,615 (GRCm39) C88R probably damaging Het
Sin3a C T 9: 57,004,109 (GRCm39) T287I probably benign Het
Slc44a1 GCC GCCCCC 4: 53,563,243 (GRCm39) probably benign Het
Sppl2c G C 11: 104,077,307 (GRCm39) V36L probably benign Het
Srp72 T A 5: 77,124,338 (GRCm39) I68N probably damaging Het
Srrm3 T A 5: 135,883,231 (GRCm39) S195R probably damaging Het
Srrm4 T A 5: 116,605,887 (GRCm39) probably benign Het
Ssb A G 2: 69,699,163 (GRCm39) S199G probably benign Het
Sult2a6 T A 7: 13,988,634 (GRCm39) Y42F probably damaging Het
Syne2 A G 12: 76,072,343 (GRCm39) T120A probably benign Het
Tas1r1 A G 4: 152,112,627 (GRCm39) F809L probably damaging Het
Tead3 A G 17: 28,555,544 (GRCm39) S117P probably damaging Het
Tefm C T 11: 80,031,056 (GRCm39) R60H probably damaging Het
Tmem104 G A 11: 115,092,221 (GRCm39) R110H possibly damaging Het
Tnxb G A 17: 34,918,179 (GRCm39) G2364D probably damaging Het
Vmn1r211 T A 13: 23,036,134 (GRCm39) I178F probably damaging Het
Vmn1r6 A T 6: 56,980,109 (GRCm39) Y235F probably damaging Het
Xrcc5 C A 1: 72,385,529 (GRCm39) T540K 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
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
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'- CAAACAGACCTGGCTATTTTGG -3'
(R):5'- AAAGCTGCACTTTACTGCAAC -3'

Sequencing Primer
(F):5'- ACAGACCTGGCTATTTTGGACATTTC -3'
(R):5'- GCTGCACTTTACTGCAACATAGC -3'
Posted On 2014-08-25