Mutagenetix > Incidental Mutation

Incidental Mutation 'R4298:Qrfpr'

323414

Institutional Source

Beutler Lab

Gene Symbol

Qrfpr

Ensembl Gene

ENSMUSG00000058400

Gene Name

pyroglutamylated RFamide peptide receptor

Synonyms

Gpr103, AQ27

MMRRC Submission

041086-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4298 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36179424-36222313 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36189554 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 133 (I133F)

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: I133F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088768
Gene: ENSMUSG00000058400
AA Change: I133F

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

noncoding transcript
Transcript: ENSMUST00000197275

Predicted Effect

probably damaging
Transcript: ENSMUST00000197447
AA Change: I133F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143773
Gene: ENSMUSG00000058400
AA Change: I133F

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

0.9244

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (54/54)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 86,531,525		probably null	Het
Ccser2	T	A	14: 36,890,380	Q158L	possibly damaging	Het
Cct7	T	A	6: 85,468,173	C469S	probably damaging	Het
Chmp7	A	T	14: 69,719,201		probably null	Het
Clcn4	C	T	7: 7,296,738	D31N	possibly damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Ctdp1	A	T	18: 80,449,957	V441E	probably benign	Het
Cyp4a10	T	C	4: 115,532,692	L498P	probably damaging	Het
Dsc3	A	T	18: 19,980,754	N370K	possibly damaging	Het
Dusp12	G	A	1: 170,880,629	T173M	probably benign	Het
Ebf3	C	T	7: 137,225,229	R318Q	possibly damaging	Het
Epcam	T	C	17: 87,640,534		probably null	Het
Erich6	G	T	3: 58,624,291	A428D	probably benign	Het
Ext1	A	T	15: 53,345,125	I80N	probably benign	Het
Extl1	T	C	4: 134,357,658	E667G	probably damaging	Het
F2	T	G	2: 91,629,320		probably null	Het
Fbxw16	T	C	9: 109,446,557	I135V	probably benign	Het
Glipr1l1	A	T	10: 112,062,347	D119V	probably benign	Het
Gprc5b	G	A	7: 118,984,214	A144V	possibly damaging	Het
Lmbrd2	G	A	15: 9,165,795	R252H	possibly damaging	Het
Lyst	A	G	13: 13,634,887	T381A	probably damaging	Het
Mcpt4	A	T	14: 56,060,987	V97D	possibly damaging	Het
Nefh	A	G	11: 4,940,066	I851T	probably benign	Het
Nf1	A	T	11: 79,384,244	I44F	probably damaging	Het
Nyap2	A	T	1: 81,241,096	I278F	probably damaging	Het
Olfr1263	A	T	2: 90,015,649	T240S	probably benign	Het
Olfr268-ps1	G	T	2: 111,844,444		noncoding transcript	Het
Pdcd4	C	A	19: 53,919,661	P201Q	probably damaging	Het
Pramef25	A	T	4: 143,949,143	L371*	probably null	Het
Prdm11	T	C	2: 92,993,383	T179A	probably benign	Het
Rack1	T	C	11: 48,801,626		probably benign	Het
Reln	A	C	5: 21,920,487	C2733G	probably damaging	Het
Rrs1	C	T	1: 9,546,223	R234C	possibly damaging	Het
Sag	G	C	1: 87,845,015	D402H	probably benign	Het
Sbk3	T	A	7: 4,969,980	T64S	probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Sh3gl1	C	T	17: 56,019,173	G111D	probably damaging	Het
Spata20	G	A	11: 94,483,088	R379W	probably damaging	Het
St3gal2	T	C	8: 110,962,359	M177T	probably benign	Het
Stk39	C	T	2: 68,390,940	G213D	probably damaging	Het
Szt2	A	G	4: 118,365,406		probably benign	Het
Taf1d	T	C	9: 15,308,643	S63P	probably damaging	Het
Tnfrsf13b	C	G	11: 61,140,817		probably null	Het
Ttn	G	T	2: 76,724,050	A30807D	probably damaging	Het
Unc119	A	G	11: 78,348,122	N158S	probably damaging	Het
Vmn2r116	T	A	17: 23,401,827	I845N	possibly damaging	Het
Vmn2r12	C	A	5: 109,091,964	M244I	probably benign	Het
Zdhhc4	A	G	5: 143,324,242	V87A	probably damaging	Het
Zwilch	A	G	9: 64,155,162		probably null	Het

Other mutations in Qrfpr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01935:Qrfpr	APN	3	36181051	splice site	probably null
IGL02274:Qrfpr	APN	3	36222136	missense	probably damaging	0.98
R0382:Qrfpr	UTSW	3	36180969	missense	possibly damaging	0.73
R0398:Qrfpr	UTSW	3	36181052	splice site	probably benign
R0631:Qrfpr	UTSW	3	36221989	missense	probably damaging	1.00
R0690:Qrfpr	UTSW	3	36189559	missense	probably damaging	1.00
R1222:Qrfpr	UTSW	3	36180095	missense	probably damaging	1.00
R1413:Qrfpr	UTSW	3	36182660	missense	possibly damaging	0.92
R1418:Qrfpr	UTSW	3	36180095	missense	probably damaging	1.00
R1500:Qrfpr	UTSW	3	36182580	missense	probably damaging	1.00
R2037:Qrfpr	UTSW	3	36182657	missense	probably damaging	0.99
R3924:Qrfpr	UTSW	3	36221923	missense	possibly damaging	0.71
R3925:Qrfpr	UTSW	3	36221923	missense	possibly damaging	0.71
R3966:Qrfpr	UTSW	3	36181000	missense	possibly damaging	0.73
R4751:Qrfpr	UTSW	3	36182622	missense	possibly damaging	0.67
R4760:Qrfpr	UTSW	3	36221924	missense	probably benign	0.34
R4989:Qrfpr	UTSW	3	36222136	missense	probably damaging	0.98
R5548:Qrfpr	UTSW	3	36221926	missense	possibly damaging	0.84
R5607:Qrfpr	UTSW	3	36180965	missense	possibly damaging	0.55
R5608:Qrfpr	UTSW	3	36180965	missense	possibly damaging	0.55
R6027:Qrfpr	UTSW	3	36222038	missense	probably benign	0.44
R6115:Qrfpr	UTSW	3	36182593	missense	possibly damaging	0.51
R6546:Qrfpr	UTSW	3	36180265	missense	probably damaging	1.00
R6714:Qrfpr	UTSW	3	36180256	missense	possibly damaging	0.81
R7080:Qrfpr	UTSW	3	36180049	missense	probably benign	0.04
R7833:Qrfpr	UTSW	3	36189602	missense	probably benign
R8796:Qrfpr	UTSW	3	36180196	missense	probably damaging	1.00
R9032:Qrfpr	UTSW	3	36221950	missense	probably damaging	1.00
R9085:Qrfpr	UTSW	3	36221950	missense	probably damaging	1.00
R9121:Qrfpr	UTSW	3	36181007	missense	probably damaging	1.00
R9522:Qrfpr	UTSW	3	36182527	missense	probably damaging	1.00
Z1176:Qrfpr	UTSW	3	36182610	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACAGACTGCAATCTCTGAAG -3'
(R):5'- TTGCATCTATGGCATGGTTATCATC -3'

Sequencing Primer
(F):5'- CTGCAATCTCTGAAGTCATATGC -3'
(R):5'- GGCATGGTTATCATCAGAAAGCTTC -3'

Posted On

2015-06-20