Mutagenetix > Incidental Mutation

Incidental Mutation 'R1159:Rxfp4'

101937

Institutional Source

Beutler Lab

Gene Symbol

Rxfp4

Ensembl Gene

ENSMUSG00000049741

Gene Name

relaxin family peptide receptor 4

Synonyms

Rln3r2, Gpr100

MMRRC Submission

039232-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1159 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

88559205-88560449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88559894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 186 (W186R)

Ref Sequence

ENSEMBL: ENSMUSP00000058732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029694] [ENSMUST00000063119] [ENSMUST00000107510] [ENSMUST00000170653] [ENSMUST00000176500]

AlphaFold

Q7TQP4

Predicted Effect

probably benign
Transcript: ENSMUST00000029694

SMART Domains

Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059

Domain	Start	End	E-Value	Type
C1	40	86	4.22e-9	SMART
low complexity region	90	95	N/A	INTRINSIC
low complexity region	133	146	N/A	INTRINSIC
RhoGEF	240	432	1.86e-58	SMART
PH	474	574	9.56e-11	SMART
coiled coil region	588	619	N/A	INTRINSIC
low complexity region	812	827	N/A	INTRINSIC
coiled coil region	829	866	N/A	INTRINSIC
low complexity region	872	888	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000063119
AA Change: W186R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058732
Gene: ENSMUSG00000049741
AA Change: W186R

Domain	Start	End	E-Value	Type
Pfam:7tm_1	56	313	1.3e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107510

SMART Domains

Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059

Domain	Start	End	E-Value	Type
C1	13	59	4.22e-9	SMART
low complexity region	63	68	N/A	INTRINSIC
low complexity region	106	119	N/A	INTRINSIC
RhoGEF	213	405	1.86e-58	SMART
PH	447	547	9.56e-11	SMART
coiled coil region	561	592	N/A	INTRINSIC
low complexity region	785	800	N/A	INTRINSIC
coiled coil region	802	839	N/A	INTRINSIC
low complexity region	845	861	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170653

SMART Domains

Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059

Domain	Start	End	E-Value	Type
C1	13	59	4.22e-9	SMART
low complexity region	63	68	N/A	INTRINSIC
low complexity region	104	117	N/A	INTRINSIC
RhoGEF	211	403	1.86e-58	SMART
PH	445	545	9.56e-11	SMART
coiled coil region	559	590	N/A	INTRINSIC
low complexity region	783	798	N/A	INTRINSIC
coiled coil region	800	837	N/A	INTRINSIC
low complexity region	843	859	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176500

SMART Domains

Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059

Domain	Start	End	E-Value	Type
C1	25	71	4.22e-9	SMART
low complexity region	75	80	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
RhoGEF	225	417	1.86e-58	SMART
PH	459	559	9.56e-11	SMART
coiled coil region	573	604	N/A	INTRINSIC
low complexity region	797	812	N/A	INTRINSIC
coiled coil region	814	851	N/A	INTRINSIC
low complexity region	857	873	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 91.8%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GPR100 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced refeeding responses after fasting, altered food preference, and reduced fat content. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,115,137 (GRCm39)	H164Y	probably damaging	Het
Acss2	T	C	2: 155,393,138 (GRCm39)	I288T	probably benign	Het
Akap9	C	T	5: 4,010,865 (GRCm39)	R541C	probably damaging	Het
Ano5	T	C	7: 51,229,222 (GRCm39)		probably benign	Het
Anp32b	T	C	4: 46,471,478 (GRCm39)		probably benign	Het
Avil	T	C	10: 126,847,659 (GRCm39)	V528A	possibly damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cdk10	T	C	8: 123,955,062 (GRCm39)		probably benign	Het
Cfap65	A	T	1: 74,968,499 (GRCm39)	F111Y	probably damaging	Het
Cryge	A	G	1: 65,089,967 (GRCm39)	F72L	probably benign	Het
Ercc3	C	T	18: 32,397,611 (GRCm39)	T614I	possibly damaging	Het
Fgd5	T	C	6: 91,965,483 (GRCm39)	I572T	probably benign	Het
Fubp1	A	G	3: 151,921,229 (GRCm39)	D88G	possibly damaging	Het
Gcnt1	C	A	19: 17,307,168 (GRCm39)	V186F	possibly damaging	Het
Gldc	A	T	19: 30,138,162 (GRCm39)		probably benign	Het
Gxylt2	A	G	6: 100,781,602 (GRCm39)	M426V	possibly damaging	Het
Hps5	A	T	7: 46,421,978 (GRCm39)		probably null	Het
Igf2bp2	G	A	16: 21,880,603 (GRCm39)		probably benign	Het
Lamb2	T	C	9: 108,358,607 (GRCm39)	S215P	probably damaging	Het
Mfsd13b	T	C	7: 120,613,766 (GRCm39)	M421T	probably damaging	Het
Mtif2	C	A	11: 29,490,729 (GRCm39)	R478S	possibly damaging	Het
Nadk2	G	A	15: 9,106,925 (GRCm39)	R351H	possibly damaging	Het
Nt5dc1	T	C	10: 34,274,169 (GRCm39)	D167G	possibly damaging	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Ppig	T	A	2: 69,580,568 (GRCm39)	S701T	unknown	Het
Pramel17	T	C	4: 101,695,224 (GRCm39)	E29G	possibly damaging	Het
Ptprc	A	G	1: 138,000,057 (GRCm39)	S830P	probably damaging	Het
Rev3l	T	A	10: 39,727,921 (GRCm39)	L2690*	probably null	Het
Rgs22	A	T	15: 36,040,839 (GRCm39)	S883T	probably damaging	Het
Sacm1l	T	C	9: 123,395,476 (GRCm39)	S200P	probably benign	Het
Serpinb6d	T	A	13: 33,855,212 (GRCm39)	D295E	probably damaging	Het
Slc38a10	A	G	11: 119,996,301 (GRCm39)	V932A	probably benign	Het
Top2b	T	C	14: 16,430,329 (GRCm38)	S1568P	possibly damaging	Het
Tox	T	G	4: 6,697,600 (GRCm39)	N401T	probably benign	Het
Trim24	T	C	6: 37,933,412 (GRCm39)		probably null	Het
Unc79	T	G	12: 103,013,311 (GRCm39)		probably benign	Het
Vmn2r66	A	T	7: 84,644,613 (GRCm39)	I599N	probably benign	Het
Zfa-ps	T	A	10: 52,419,654 (GRCm39)		noncoding transcript	Het

Other mutations in Rxfp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02570:Rxfp4	APN	3	88,560,149 (GRCm39)	missense	probably damaging	0.99
IGL02876:Rxfp4	APN	3	88,559,742 (GRCm39)	missense	possibly damaging	0.84
R1926:Rxfp4	UTSW	3	88,559,659 (GRCm39)	missense	probably benign	0.01
R2146:Rxfp4	UTSW	3	88,560,200 (GRCm39)	missense	probably damaging	1.00
R3508:Rxfp4	UTSW	3	88,559,899 (GRCm39)	missense	probably damaging	1.00
R5739:Rxfp4	UTSW	3	88,559,209 (GRCm39)	unclassified	probably benign
R8729:Rxfp4	UTSW	3	88,559,305 (GRCm39)	missense	unknown
R9208:Rxfp4	UTSW	3	88,559,390 (GRCm39)	nonsense	probably null
R9614:Rxfp4	UTSW	3	88,559,969 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

Posted On

2014-01-15