Mutagenetix > Incidental Mutation

Incidental Mutation 'R9032:Qrfpr'

687115

Institutional Source

Beutler Lab

Gene Symbol

Qrfpr

Ensembl Gene

ENSMUSG00000058400

Gene Name

pyroglutamylated RFamide peptide receptor

Synonyms

AQ27, Gpr103

MMRRC Submission

068861-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36233575-36276462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36276099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 97 (F97S)

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: F97S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088768
Gene: ENSMUSG00000058400
AA Change: F97S

Domain	Start	End	E-Value	Type
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: F97S

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143773
Gene: ENSMUSG00000058400
AA Change: F97S

Domain	Start	End	E-Value	Type
low complexity region	40	61	N/A	INTRINSIC
Pfam:7tm_1	62	229	1.1e-35	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (56/56)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,844,782 (GRCm39)	M78I	probably benign	Het
Abca8b	C	T	11: 109,848,073 (GRCm39)	V803M	probably benign	Het
Acap1	T	C	11: 69,772,491 (GRCm39)	E728G	probably damaging	Het
Afg1l	G	A	10: 42,194,637 (GRCm39)	T385M	probably damaging	Het
Ankib1	T	C	5: 3,819,641 (GRCm39)	I93V	probably benign	Het
Aopep	C	T	13: 63,444,681 (GRCm39)	R752*	probably null	Het
Apoa4	T	A	9: 46,154,275 (GRCm39)	L292Q	probably damaging	Het
Arhgap29	T	A	3: 121,808,249 (GRCm39)	D1142E	probably benign	Het
Asb5	A	T	8: 55,038,929 (GRCm39)	D265V	probably benign	Het
Ash1l	C	T	3: 88,889,294 (GRCm39)	A391V	probably benign	Het
Ash1l	T	C	3: 88,891,529 (GRCm39)	V1136A	probably benign	Het
Cacna1c	G	T	6: 118,615,466 (GRCm39)	Y1308*	probably null	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Dmtn	A	G	14: 70,853,534 (GRCm39)	S92P	probably damaging	Het
Edc4	T	C	8: 106,613,639 (GRCm39)	F353S	probably damaging	Het
Emc1	T	C	4: 139,094,474 (GRCm39)	Y676H	possibly damaging	Het
Epb41l4b	A	T	4: 57,041,064 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,492,894 (GRCm39)	N3872I	probably benign	Het
Fer	T	A	17: 64,228,767 (GRCm39)	M214K	probably damaging	Het
Fgf17	A	G	14: 70,874,436 (GRCm39)	F129L	probably damaging	Het
Fnbp1	T	C	2: 30,973,017 (GRCm39)	D161G	probably damaging	Het
Frmd4b	A	C	6: 97,269,334 (GRCm39)	S993A	probably benign	Het
Hsh2d	T	C	8: 72,954,385 (GRCm39)	S256P	probably benign	Het
Il31ra	T	C	13: 112,660,628 (GRCm39)	S654G		Het
Lmnb2	T	C	10: 80,740,091 (GRCm39)	D442G	probably benign	Het
Med19	A	G	2: 84,515,660 (GRCm39)	M115V	probably damaging	Het
Mroh5	T	C	15: 73,655,302 (GRCm39)	Y641C	probably benign	Het
Mrpl18	A	T	17: 13,134,582 (GRCm39)	V61E	probably damaging	Het
Mrtfb	A	C	16: 13,230,092 (GRCm39)	T926P	probably damaging	Het
Mtap	AC	A	4: 89,090,515 (GRCm39)		probably null	Het
Muc2	T	A	7: 141,287,058 (GRCm39)	C154S	probably damaging	Het
Mypn	T	G	10: 62,983,894 (GRCm39)		probably null	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nes	T	G	3: 87,887,069 (GRCm39)	V1776G	possibly damaging	Het
Nxn	A	G	11: 76,169,383 (GRCm39)	I132T	probably damaging	Het
Oxr1	G	A	15: 41,718,317 (GRCm39)	V798I	probably benign	Het
Papss1	C	A	3: 131,324,817 (GRCm39)	H425N	probably damaging	Het
Pde4dip	T	C	3: 97,601,385 (GRCm39)	N2344S	probably benign	Het
Pfas	C	T	11: 68,879,421 (GRCm39)	G263S		Het
Pknox1	C	T	17: 31,822,229 (GRCm39)	T332M	possibly damaging	Het
Plch2	T	C	4: 155,084,976 (GRCm39)	D321G	probably damaging	Het
Pnma1	T	C	12: 84,193,806 (GRCm39)	N299S	probably benign	Het
Psg23	T	G	7: 18,348,660 (GRCm39)	N49T	possibly damaging	Het
Rbl1	A	G	2: 157,035,073 (GRCm39)	F336L	probably benign	Het
Rpap1	G	A	2: 119,608,776 (GRCm39)	P143S	probably benign	Het
Rsph6a	A	T	7: 18,799,250 (GRCm39)	N294Y	probably damaging	Het
Serpinb9h	T	C	13: 33,581,781 (GRCm39)	Y113H	probably damaging	Het
Sesn1	C	T	10: 41,686,835 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,033,992 (GRCm39)	Y782H	probably damaging	Het
Siglecg	T	C	7: 43,061,049 (GRCm39)	V374A	probably benign	Het
Slc35d2	A	G	13: 64,256,227 (GRCm39)	F156S	probably damaging	Het
Slc6a11	A	T	6: 114,202,808 (GRCm39)	I301F	probably damaging	Het
Slx4ip	A	G	2: 136,910,240 (GRCm39)	K412E	possibly damaging	Het
Tas2r115	A	T	6: 132,714,327 (GRCm39)	V208E	probably benign	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tmem132a	G	T	19: 10,843,835 (GRCm39)	Q174K	probably damaging	Het
Tmtc1	A	T	6: 148,237,749 (GRCm39)	Y338*	probably null	Het
Vav3	C	T	3: 109,413,722 (GRCm39)	A220V	probably benign	Het
Wt1	C	A	2: 104,957,160 (GRCm39)	Q7K	probably benign	Het
Zbtb4	T	A	11: 69,672,650 (GRCm39)	F204L	probably benign	Het
Zfp51	T	A	17: 21,684,660 (GRCm39)	L425H	probably damaging	Het

Other mutations in Qrfpr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GGCACAGGATTCAATTCGAC -3'
(R):5'- CATTCATCGCTATGGGCTGC -3'

Sequencing Primer
(F):5'- CACAGGATTCAATTCGACAGAGAG -3'
(R):5'- TGGTCTACACTCCGGAGCTG -3'

Posted On

2021-11-19