Incidental Mutation 'R6027:Qrfpr'
ID 480095
Institutional Source Beutler Lab
Gene Symbol Qrfpr
Ensembl Gene ENSMUSG00000058400
Gene Name pyroglutamylated RFamide peptide receptor
Synonyms AQ27, Gpr103
MMRRC Submission 044199-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6027 (G1)
Quality Score 145.008
Status Validated
Chromosome 3
Chromosomal Location 36233575-36276462 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36276187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 68 (Y68H)
Ref Sequence ENSEMBL: ENSMUSP00000143773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091227] [ENSMUST00000197447]
AlphaFold P83861
Predicted Effect probably benign
Transcript: ENSMUST00000091227
AA Change: Y68H

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000088768
Gene: ENSMUSG00000058400
AA Change: Y68H

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 56 347 3.6e-8 PFAM
Pfam:7tm_1 62 332 4.5e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197275
Predicted Effect probably benign
Transcript: ENSMUST00000197447
AA Change: Y68H

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143773
Gene: ENSMUSG00000058400
AA Change: Y68H

DomainStartEndE-ValueType
low complexity region 40 61 N/A INTRINSIC
Pfam:7tm_1 62 229 1.1e-35 PFAM
Meta Mutation Damage Score 0.1825 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 100% (68/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,289,003 (GRCm39) V2299A probably benign Het
Acacb A G 5: 114,303,661 (GRCm39) D28G probably benign Het
Adamts6 G A 13: 104,616,043 (GRCm39) G1035D probably damaging Het
Adamts7 A C 9: 90,073,078 (GRCm39) Y755S probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ank2 T C 3: 126,791,528 (GRCm39) T763A possibly damaging Het
Armc9 G C 1: 86,172,389 (GRCm39) L105F probably damaging Het
Asah2 T C 19: 32,022,351 (GRCm39) N228D probably benign Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Aspm T G 1: 139,390,794 (GRCm39) V693G probably damaging Het
Bptf T C 11: 106,965,771 (GRCm39) E1141G probably damaging Het
Col12a1 C T 9: 79,563,860 (GRCm39) probably null Het
Csmd2 G A 4: 128,453,739 (GRCm39) D3475N unknown Het
Dctn5 T C 7: 121,732,564 (GRCm39) probably benign Het
Dhrs4 A G 14: 55,723,580 (GRCm39) K18E probably benign Het
Eci2 A T 13: 35,169,930 (GRCm39) probably null Het
Efcab6 A G 15: 83,851,922 (GRCm39) F319L probably benign Het
Elane A T 10: 79,722,852 (GRCm39) H86L probably damaging Het
Endod1 A T 9: 14,268,893 (GRCm39) Y197* probably null Het
Eno4 A G 19: 58,935,262 (GRCm39) D158G probably damaging Het
Fam217a T A 13: 35,094,977 (GRCm39) T170S possibly damaging Het
Fbxo7 A G 10: 85,883,950 (GRCm39) D517G probably damaging Het
Fkbp3 G T 12: 65,120,692 (GRCm39) A2E possibly damaging Het
Gan A G 8: 117,885,034 (GRCm39) Y54C probably damaging Het
Gdap1l1 T A 2: 163,293,531 (GRCm39) N194K possibly damaging Het
Gnptab A G 10: 88,269,087 (GRCm39) T597A probably damaging Het
Hmcn1 A G 1: 150,678,646 (GRCm39) S492P possibly damaging Het
Hmox1 C A 8: 75,823,499 (GRCm39) H56N probably damaging Het
Kank3 C T 17: 34,037,088 (GRCm39) P131S possibly damaging Het
Kif14 T C 1: 136,410,797 (GRCm39) probably null Het
Kif1a A T 1: 92,953,365 (GRCm39) M1274K probably benign Het
Kmt2a A T 9: 44,730,587 (GRCm39) probably benign Het
Lypla1 T C 1: 4,907,299 (GRCm39) probably null Het
Man2b1 C T 8: 85,823,381 (GRCm39) T905I probably damaging Het
Mmp15 C A 8: 96,098,804 (GRCm39) H544N probably benign Het
Myh7 A T 14: 55,208,259 (GRCm39) N1933K probably benign Het
Ndst4 G T 3: 125,507,025 (GRCm39) A730S probably benign Het
Nmur1 G A 1: 86,315,053 (GRCm39) Q238* probably null Het
Nwd2 C T 5: 63,965,563 (GRCm39) P1716S possibly damaging Het
Or13c7c A G 4: 43,835,842 (GRCm39) V216A probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8k38 T G 2: 86,488,148 (GRCm39) Y218S probably damaging Het
P2ry6 T G 7: 100,587,715 (GRCm39) M215L probably benign Het
Parp4 G A 14: 56,866,615 (GRCm39) E1060K probably benign Het
Pde10a A G 17: 9,183,509 (GRCm39) I822V possibly damaging Het
Pira13 T C 7: 3,827,638 (GRCm39) Y173C possibly damaging Het
Pkd1l1 C A 11: 8,866,272 (GRCm39) G528* probably null Het
Ptk2 T A 15: 73,101,762 (GRCm39) Q816L probably damaging Het
Ptprg T C 14: 12,220,613 (GRCm38) F442L possibly damaging Het
Ripk4 A G 16: 97,545,274 (GRCm39) W458R probably damaging Het
Ros1 G T 10: 52,040,064 (GRCm39) T309N possibly damaging Het
Rps27a T C 11: 29,497,808 (GRCm39) probably benign Het
Sarm1 T A 11: 78,374,384 (GRCm39) M577L probably benign Het
Scin T C 12: 40,127,515 (GRCm39) Y425C probably damaging Het
Serpina12 T A 12: 103,997,336 (GRCm39) Y395F probably benign Het
Sfxn2 T A 19: 46,571,291 (GRCm39) Y69* probably null Het
Skint6 T C 4: 112,953,761 (GRCm39) probably null Het
Slc7a1 A C 5: 148,270,774 (GRCm39) I564S possibly damaging Het
Smc6 T A 12: 11,356,179 (GRCm39) Y933N probably benign Het
Sp110 T C 1: 85,505,039 (GRCm39) S438G possibly damaging Het
St8sia4 T A 1: 95,581,399 (GRCm39) R114S probably damaging Het
Trim11 C T 11: 58,869,289 (GRCm39) A75V possibly damaging Het
Tufm T A 7: 126,086,920 (GRCm39) H68Q probably damaging Het
Ythdc2 T A 18: 44,993,503 (GRCm39) D194E 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
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
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'- TGAGTGTGCACGCGTAATCG -3'
(R):5'- GCCTTAGACTTGGAACAGCC -3'

Sequencing Primer
(F):5'- GTAATCGCTGTCTTACCACCCAG -3'
(R):5'- TGCAGGCGCTCAACATC -3'
Posted On 2017-06-26