Mutagenetix > Incidental Mutation

Incidental Mutation 'R0382:Qrfpr'

31000

Institutional Source

Beutler Lab

Gene Symbol

Qrfpr

Ensembl Gene

ENSMUSG00000058400

Gene Name

pyroglutamylated RFamide peptide receptor

Synonyms

AQ27, Gpr103

MMRRC Submission

038588-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0382 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36233575-36276462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36235118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 253 (C253Y)

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: V291I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000088768
Gene: ENSMUSG00000058400
AA Change: V291I

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: C253Y

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143773
Gene: ENSMUSG00000058400
AA Change: C253Y

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

Meta Mutation Damage Score

0.1187

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

98% (58/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	T	6: 86,923,901 (GRCm39)	Q266L	probably benign	Het
Abca13	T	C	11: 9,586,650 (GRCm39)		probably benign	Het
Adap2	T	C	11: 80,069,211 (GRCm39)		probably benign	Het
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Brinp1	T	C	4: 68,680,545 (GRCm39)	R662G	possibly damaging	Het
Celsr3	C	A	9: 108,706,417 (GRCm39)	P967T	probably damaging	Het
Ces1b	T	C	8: 93,802,680 (GRCm39)		probably benign	Het
Ckm	T	C	7: 19,155,309 (GRCm39)	*382Q	probably null	Het
Clec14a	A	G	12: 58,315,403 (GRCm39)	V73A	probably damaging	Het
Cmya5	A	T	13: 93,229,256 (GRCm39)	V1944E	probably benign	Het
Col6a6	T	A	9: 105,632,754 (GRCm39)	D1473V	probably damaging	Het
Cttnbp2	A	G	6: 18,435,342 (GRCm39)	M172T	probably benign	Het
Dcaf12	T	C	4: 41,302,672 (GRCm39)	N161S	probably damaging	Het
Dnah17	T	C	11: 118,019,822 (GRCm39)	Y75C	probably damaging	Het
Efcab7	T	C	4: 99,758,966 (GRCm39)	V388A	possibly damaging	Het
Fat3	A	G	9: 15,871,052 (GRCm39)	C3780R	probably damaging	Het
Fbxl14	T	C	6: 119,458,021 (GRCm39)	*401R	probably null	Het
Fbxo5	G	T	10: 5,751,176 (GRCm39)	Y270*	probably null	Het
Fnbp1l	A	T	3: 122,364,602 (GRCm39)		probably benign	Het
Fstl3	T	C	10: 79,613,141 (GRCm39)	S3P	probably benign	Het
Gpatch1	T	C	7: 35,001,080 (GRCm39)	D309G	probably damaging	Het
Gstcd	A	T	3: 132,692,169 (GRCm39)	L582H	probably damaging	Het
Klk6	A	G	7: 43,478,669 (GRCm39)	D192G	probably benign	Het
Lrp6	A	G	6: 134,444,631 (GRCm39)	S1080P	probably damaging	Het
Lztfl1	T	C	9: 123,536,971 (GRCm39)		probably null	Het
Mov10l1	A	G	15: 88,869,796 (GRCm39)	Y59C	possibly damaging	Het
Natd1	C	T	11: 60,797,739 (GRCm39)	R62H	probably damaging	Het
Obscn	T	C	11: 58,931,132 (GRCm39)	T5835A	probably damaging	Het
Or4c31	A	T	2: 88,292,069 (GRCm39)	R147S	possibly damaging	Het
Or5j3	A	G	2: 86,128,937 (GRCm39)	Y259C	probably damaging	Het
Or6c66b	T	C	10: 129,376,883 (GRCm39)	I159T	probably benign	Het
Or7a38	T	A	10: 78,752,960 (GRCm39)	Y95*	probably null	Het
P2rx2	T	A	5: 110,489,045 (GRCm39)	E289V	probably benign	Het
Patl1	T	A	19: 11,902,596 (GRCm39)		probably null	Het
Ptprf	A	G	4: 118,080,591 (GRCm39)		probably benign	Het
Rad21l	A	T	2: 151,487,363 (GRCm39)	D540E	probably damaging	Het
Rbm45	T	A	2: 76,200,555 (GRCm39)	I28N	possibly damaging	Het
Rnf170	A	T	8: 26,615,927 (GRCm39)		probably benign	Het
Sgsm3	G	A	15: 80,892,515 (GRCm39)	W280*	probably null	Het
Slc9a9	A	T	9: 94,567,270 (GRCm39)	H113L	probably benign	Het
Slc9b2	G	T	3: 135,024,183 (GRCm39)	C78F	probably damaging	Het
Slfn10-ps	T	A	11: 82,920,360 (GRCm39)		noncoding transcript	Het
Slfn8	T	A	11: 82,895,382 (GRCm39)	I475F	probably damaging	Het
Stox2	A	G	8: 47,656,319 (GRCm39)		probably benign	Het
Strbp	A	T	2: 37,490,838 (GRCm39)	N472K	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tmem39a	A	G	16: 38,411,760 (GRCm39)		probably benign	Het
Trpc4ap	A	G	2: 155,478,150 (GRCm39)	L664P	probably damaging	Het
Uap1	T	A	1: 169,989,051 (GRCm39)	M124L	probably benign	Het
Usp48	A	G	4: 137,348,529 (GRCm39)	N536S	probably benign	Het
Usp50	T	A	2: 126,619,848 (GRCm39)	I155F	probably damaging	Het
Utp4	T	C	8: 107,649,567 (GRCm39)	I672T	probably benign	Het
Vmn1r94	A	T	7: 19,901,578 (GRCm39)	M242K	possibly damaging	Het
Vmn2r45	T	G	7: 8,486,098 (GRCm39)	N397H	probably benign	Het
Vmn2r9	T	C	5: 108,995,463 (GRCm39)	Y395C	probably damaging	Het
Vps41	C	A	13: 19,011,897 (GRCm39)	H335N	probably benign	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
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
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'- TCCTAGCTTACCATCCTGAGGCAC -3'
(R):5'- CATGCCAGTAACCTAGTGGAACCAG -3'

Sequencing Primer
(F):5'- CCCCCCTTAGGAATAATGTAAGATTG -3'
(R):5'- CTAGAAAAGGCGATGCTACTATGTTG -3'

Posted On

2013-04-24