Incidental Mutation 'R8762:Qrfprl'
ID 671844
Institutional Source Beutler Lab
Gene Symbol Qrfprl
Ensembl Gene ENSMUSG00000029917
Gene Name pyroglutamylated RFamide peptide receptor like
Synonyms C130060K24Rik
MMRRC Submission 068622-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R8762 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 65358278-65435134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65424393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 182 (V182A)
Ref Sequence ENSEMBL: ENSMUSP00000130225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133352] [ENSMUST00000170608]
AlphaFold G3UWA8
Predicted Effect probably benign
Transcript: ENSMUST00000133352
AA Change: V129A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122416
Gene: ENSMUSG00000029917
AA Change: V129A

DomainStartEndE-ValueType
low complexity region 39 49 N/A INTRINSIC
Pfam:7TM_GPCR_Srsx 55 113 1.2e-7 PFAM
Pfam:7tm_1 61 122 1.3e-14 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000121875
Gene: ENSMUSG00000029917
AA Change: V73A

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170608
AA Change: V182A

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000130225
Gene: ENSMUSG00000029917
AA Change: V182A

DomainStartEndE-ValueType
low complexity region 39 49 N/A INTRINSIC
Pfam:7TM_GPCR_Srsx 55 346 2.5e-5 PFAM
Pfam:7tm_1 61 331 7.2e-56 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 A G 11: 101,301,226 (GRCm39) V272A probably benign Het
Acbd6 G A 1: 155,562,706 (GRCm39) E236K probably damaging Het
Actr1b T C 1: 36,748,909 (GRCm39) N9S probably benign Het
Adam17 A T 12: 21,401,595 (GRCm39) D133E probably benign Het
Adam6b G A 12: 113,453,227 (GRCm39) V15M probably damaging Het
Adam9 T A 8: 25,457,235 (GRCm39) N631I probably damaging Het
Albfm1 A G 5: 90,714,461 (GRCm39) N157S probably benign Het
Amy2a1 A T 3: 113,325,276 (GRCm39) probably benign Het
Aplnr A T 2: 84,967,515 (GRCm39) Y180F probably benign Het
Arhgef7 T C 8: 11,831,216 (GRCm39) V105A probably benign Het
Bambi G A 18: 3,511,277 (GRCm39) D33N probably damaging Het
Bicc1 G A 10: 70,779,216 (GRCm39) T724I probably benign Het
Brd2 T A 17: 34,335,934 (GRCm39) Q93L probably damaging Het
Cacnb2 A G 2: 14,972,759 (GRCm39) D222G possibly damaging Het
Cdh1 G T 8: 107,386,336 (GRCm39) D420Y probably damaging Het
Cep162 T C 9: 87,109,314 (GRCm39) S430G probably benign Het
Cfap161 T A 7: 83,443,282 (GRCm39) R27S possibly damaging Het
Chek1 C T 9: 36,629,636 (GRCm39) A237T probably benign Het
Chrna3 T A 9: 54,922,995 (GRCm39) K271M probably damaging Het
Coro7 A C 16: 4,452,203 (GRCm39) V410G probably benign Het
Crmp1 C A 5: 37,441,440 (GRCm39) N507K probably damaging Het
Crocc T C 4: 140,761,369 (GRCm39) R755G possibly damaging Het
Disc1 A G 8: 125,881,796 (GRCm39) D577G probably damaging Het
Dnah6 A G 6: 73,156,811 (GRCm39) Y649H possibly damaging Het
Flywch1 A G 17: 23,975,731 (GRCm39) S504P probably damaging Het
Fpr1 A T 17: 18,097,851 (GRCm39) V46D probably damaging Het
Fpr-rs7 C T 17: 20,333,789 (GRCm39) V234M probably benign Het
Ighv5-16 T C 12: 113,802,288 (GRCm39) N71D probably benign Het
Kash5 G T 7: 44,845,481 (GRCm39) D152E probably damaging Het
Kdm3b A G 18: 34,937,157 (GRCm39) M480V probably benign Het
L3mbtl3 T A 10: 26,152,121 (GRCm39) D825V probably damaging Het
Lef1 T A 3: 130,988,366 (GRCm39) M311K probably damaging Het
Magi1 T A 6: 93,792,789 (GRCm39) R150* probably null Het
Magi3 C T 3: 103,958,169 (GRCm39) V639I probably damaging Het
Mocos A T 18: 24,812,554 (GRCm39) R483W probably damaging Het
Mrps11 G T 7: 78,438,487 (GRCm39) V80F possibly damaging Het
Myh2 A T 11: 67,084,578 (GRCm39) R1706W probably damaging Het
Neurod6 T A 6: 55,656,228 (GRCm39) L136F probably damaging Het
Nfe2l1 A T 11: 96,711,306 (GRCm39) Y308N probably damaging Het
Nptn T A 9: 58,525,905 (GRCm39) probably benign Het
Or1e28-ps1 G T 11: 73,615,307 (GRCm39) T181N unknown Het
Or5g25 A T 2: 85,478,034 (GRCm39) S210R probably damaging Het
Oscar A G 7: 3,613,900 (GRCm39) S227P probably benign Het
Phgdh A C 3: 98,247,024 (GRCm39) I42R possibly damaging Het
Pla2g4a C T 1: 149,761,935 (GRCm39) G174D probably benign Het
Plcd4 A G 1: 74,591,213 (GRCm39) T203A possibly damaging Het
Plk3 ACACTCAC ACAC 4: 116,989,090 (GRCm39) probably benign Het
Plppr4 A T 3: 117,119,482 (GRCm39) V309D probably damaging Het
Pltp T C 2: 164,686,652 (GRCm39) K324E possibly damaging Het
Pml C T 9: 58,154,348 (GRCm39) R175H probably damaging Het
Psg20 C A 7: 18,408,557 (GRCm39) V388F probably benign Het
Rabgef1 A G 5: 130,237,557 (GRCm39) D209G possibly damaging Het
Rif1 A T 2: 52,001,742 (GRCm39) N90I Het
Sec31a T C 5: 100,526,688 (GRCm39) H57R Het
Sidt1 T C 16: 44,152,707 (GRCm39) N62S probably benign Het
Slc18a2 T A 19: 59,261,355 (GRCm39) M172K probably benign Het
Slc34a3 T C 2: 25,121,003 (GRCm39) T362A probably benign Het
Smtn T G 11: 3,476,407 (GRCm39) D158A probably benign Het
Spen C T 4: 141,200,261 (GRCm39) V2789M probably damaging Het
Taf2 A T 15: 54,910,849 (GRCm39) N608K probably benign Het
Tctn3 A G 19: 40,595,636 (GRCm39) V383A unknown Het
Themis3 A T 17: 66,866,676 (GRCm39) M188K probably benign Het
Trpv5 A G 6: 41,652,313 (GRCm39) V124A probably benign Het
Tshr G A 12: 91,504,324 (GRCm39) V421M probably damaging Het
Ttn T A 2: 76,539,426 (GRCm39) D34520V probably benign Het
Ttn A C 2: 76,608,294 (GRCm39) Y17876* probably null Het
Zrsr2-ps1 T C 11: 22,923,694 (GRCm39) L156P probably benign Het
Other mutations in Qrfprl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02084:Qrfprl APN 6 65,358,594 (GRCm39) missense probably benign 0.36
IGL03335:Qrfprl APN 6 65,430,101 (GRCm39) critical splice donor site probably null
R1291:Qrfprl UTSW 6 65,429,884 (GRCm39) nonsense probably null
R1689:Qrfprl UTSW 6 65,358,591 (GRCm39) missense possibly damaging 0.84
R1705:Qrfprl UTSW 6 65,433,290 (GRCm39) missense probably benign 0.01
R2188:Qrfprl UTSW 6 65,418,260 (GRCm39) missense probably damaging 0.97
R3955:Qrfprl UTSW 6 65,430,092 (GRCm39) missense possibly damaging 0.73
R4058:Qrfprl UTSW 6 65,358,525 (GRCm39) missense probably damaging 1.00
R4572:Qrfprl UTSW 6 65,431,975 (GRCm39) missense probably benign 0.06
R4597:Qrfprl UTSW 6 65,424,408 (GRCm39) critical splice donor site probably null
R4756:Qrfprl UTSW 6 65,429,898 (GRCm39) missense probably benign 0.02
R5139:Qrfprl UTSW 6 65,433,203 (GRCm39) missense probably damaging 0.98
R5872:Qrfprl UTSW 6 65,418,369 (GRCm39) intron probably benign
R6193:Qrfprl UTSW 6 65,433,142 (GRCm39) missense probably damaging 1.00
R6305:Qrfprl UTSW 6 65,431,975 (GRCm39) missense probably benign 0.06
R6423:Qrfprl UTSW 6 65,433,077 (GRCm39) missense probably benign 0.01
R6453:Qrfprl UTSW 6 65,430,014 (GRCm39) missense possibly damaging 0.71
R6677:Qrfprl UTSW 6 65,433,229 (GRCm39) missense probably benign
R6744:Qrfprl UTSW 6 65,418,324 (GRCm39) missense possibly damaging 0.88
R6793:Qrfprl UTSW 6 65,358,405 (GRCm39) missense probably benign 0.20
R6875:Qrfprl UTSW 6 65,433,320 (GRCm39) missense probably benign 0.21
R6941:Qrfprl UTSW 6 65,424,385 (GRCm39) missense probably damaging 1.00
R6995:Qrfprl UTSW 6 65,418,285 (GRCm39) missense probably damaging 1.00
R7063:Qrfprl UTSW 6 65,418,387 (GRCm39) intron probably benign
R7564:Qrfprl UTSW 6 65,429,891 (GRCm39) nonsense probably null
R7699:Qrfprl UTSW 6 65,429,940 (GRCm39) missense probably benign 0.30
R7700:Qrfprl UTSW 6 65,429,940 (GRCm39) missense probably benign 0.30
R7711:Qrfprl UTSW 6 65,418,357 (GRCm39) missense
R7799:Qrfprl UTSW 6 65,433,121 (GRCm39) missense possibly damaging 0.78
R7801:Qrfprl UTSW 6 65,418,201 (GRCm39) missense probably damaging 1.00
R8737:Qrfprl UTSW 6 65,433,260 (GRCm39) missense probably benign
R8927:Qrfprl UTSW 6 65,358,597 (GRCm39) nonsense probably null
R8928:Qrfprl UTSW 6 65,358,597 (GRCm39) nonsense probably null
R9317:Qrfprl UTSW 6 65,424,368 (GRCm39) missense probably benign 0.10
R9405:Qrfprl UTSW 6 65,433,078 (GRCm39) missense probably benign 0.16
R9712:Qrfprl UTSW 6 65,433,124 (GRCm39) missense probably benign 0.00
RF018:Qrfprl UTSW 6 65,433,174 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCTCTCACACACGGGAGAG -3'
(R):5'- GCTGAGCTGTCCAAAACCAC -3'

Sequencing Primer
(F):5'- CACACTTTTAAGAAGACCAGAGG -3'
(R):5'- TGGAGAAACCCAAGAATTGTACATG -3'
Posted On 2021-04-30