Mutagenetix > Incidental Mutation

Incidental Mutation 'R8729:Rxfp4'

662627

Institutional Source

Beutler Lab

Gene Symbol

Rxfp4

Ensembl Gene

ENSMUSG00000049741

Gene Name

relaxin family peptide receptor 4

Synonyms

Rln3r2, Gpr100

MMRRC Submission

068577-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8729 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88559205-88560449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88559305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 382 (N382I)

Ref Sequence

ENSEMBL: ENSMUSP00000058732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029694] [ENSMUST00000063119] [ENSMUST00000107510] [ENSMUST00000170653] [ENSMUST00000176500] [ENSMUST00000177498]

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

unknown
Transcript: ENSMUST00000063119
AA Change: N382I

SMART Domains

Protein: ENSMUSP00000058732
Gene: ENSMUSG00000049741
AA Change: N382I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177498

SMART Domains

Protein: ENSMUSP00000134840
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	116	129	N/A	INTRINSIC
RhoGEF	223	415	1.86e-58	SMART
PH	457	557	9.56e-11	SMART
coiled coil region	571	602	N/A	INTRINSIC
low complexity region	795	810	N/A	INTRINSIC
coiled coil region	812	849	N/A	INTRINSIC
low complexity region	855	871	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

Validation Efficiency

100% (55/55)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,176 (GRCm39)	Y148*	probably null	Het
Ank3	A	G	10: 69,838,428 (GRCm39)	D1812G	possibly damaging	Het
Ankrd17	C	T	5: 90,443,452 (GRCm39)	C405Y	probably benign	Het
Ankrd61	A	G	5: 143,827,803 (GRCm39)	Y391H	probably benign	Het
Calcb	A	C	7: 114,319,428 (GRCm39)	E70A	probably benign	Het
Ccr1	T	C	9: 123,763,831 (GRCm39)	K233R	probably benign	Het
Ccz1	T	C	5: 143,948,310 (GRCm39)	D115G	probably damaging	Het
Col14a1	T	A	15: 55,310,893 (GRCm39)	L1203*	probably null	Het
Csmd2	G	A	4: 128,356,638 (GRCm39)	D1648N		Het
Csn1s1	T	C	5: 87,824,998 (GRCm39)		probably null	Het
Depp1	C	A	6: 116,628,762 (GRCm39)	P35H	probably damaging	Het
Eif2ak3	C	A	6: 70,821,864 (GRCm39)	P52Q	probably benign	Het
Galnt18	T	C	7: 111,119,198 (GRCm39)	E441G	probably null	Het
Gpat2	C	A	2: 127,275,739 (GRCm39)	Q506K	probably damaging	Het
Gramd1a	C	A	7: 30,843,248 (GRCm39)	R20L	possibly damaging	Het
Helz	G	T	11: 107,528,754 (GRCm39)		probably null	Het
Hif1a	A	G	12: 73,990,902 (GRCm39)	N725D	probably damaging	Het
Ighv3-3	A	T	12: 114,160,252 (GRCm39)	W53R	possibly damaging	Het
Kat2a	T	C	11: 100,601,337 (GRCm39)	K331R	probably benign	Het
Klk1b4	T	A	7: 43,856,884 (GRCm39)	F3I	probably damaging	Het
Krt78	T	G	15: 101,855,455 (GRCm39)	Q785H	probably damaging	Het
Lsm11	C	T	11: 45,835,727 (GRCm39)	E5K	possibly damaging	Het
Luzp2	A	G	7: 54,816,985 (GRCm39)	K145R	probably damaging	Het
Man2b2	T	C	5: 36,973,462 (GRCm39)	T506A	probably benign	Het
Msrb3	A	C	10: 120,687,974 (GRCm39)	C34G	probably null	Het
Muc16	T	C	9: 18,571,346 (GRCm39)	D391G	unknown	Het
Mybpc2	C	T	7: 44,155,611 (GRCm39)	V881M	probably damaging	Het
Myh15	A	G	16: 48,881,851 (GRCm39)	K31R	probably damaging	Het
Ndnf	A	T	6: 65,680,758 (GRCm39)	K346*	probably null	Het
Nfs1	G	A	2: 155,965,727 (GRCm39)	T118I	probably benign	Het
Niban2	T	A	2: 32,799,946 (GRCm39)	L91Q	probably damaging	Het
Nlrp9c	T	G	7: 26,071,428 (GRCm39)	K893N	probably benign	Het
Nmd3	A	T	3: 69,655,682 (GRCm39)	K454N	possibly damaging	Het
Or5ae1	T	C	7: 84,565,523 (GRCm39)	C179R	probably damaging	Het
Pcdhb9	C	A	18: 37,535,639 (GRCm39)	D544E	possibly damaging	Het
Pck1	A	G	2: 172,997,866 (GRCm39)	I312V	probably damaging	Het
Pkd2l2	G	A	18: 34,566,354 (GRCm39)	V522I	probably benign	Het
Polr3c	C	T	3: 96,634,796 (GRCm39)		probably benign	Het
Prkd2	T	A	7: 16,583,052 (GRCm39)	H271Q	probably damaging	Het
Rpp21	A	G	17: 36,566,927 (GRCm39)	S59P	probably benign	Het
Sirt1	A	G	10: 63,156,705 (GRCm39)	F642L	probably damaging	Het
Sp2	T	C	11: 96,852,099 (GRCm39)	D275G	possibly damaging	Het
Speer4a3	A	G	5: 26,158,178 (GRCm39)	V58A	probably damaging	Het
Srp72	C	T	5: 77,142,005 (GRCm39)	T414I	probably benign	Het
Syne1	T	A	10: 5,179,275 (GRCm39)	M4400L	probably benign	Het
Tbx15	A	T	3: 99,220,376 (GRCm39)	H156L	possibly damaging	Het
Tbxas1	G	T	6: 38,978,272 (GRCm39)	M140I	probably benign	Het
Tcof1	G	T	18: 60,962,145 (GRCm39)	P695T	unknown	Het
Tmprss9	A	T	10: 80,726,177 (GRCm39)	M476L	probably benign	Het
Trat1	A	T	16: 48,562,591 (GRCm39)	I73N	probably damaging	Het
Trp53bp2	A	T	1: 182,276,587 (GRCm39)	E856V	probably benign	Het
Ttc28	T	A	5: 111,383,509 (GRCm39)		probably null	Het
Ttn	AC	A	2: 76,749,528 (GRCm39)		probably null	Het
Twf1	T	C	15: 94,479,212 (GRCm39)	N216D	probably benign	Het
Unc80	C	A	1: 66,647,649 (GRCm39)	H1530N	probably benign	Het
Vmn1r235	A	T	17: 21,481,875 (GRCm39)	M67L	probably benign	Het
Vmn2r111	A	T	17: 22,767,239 (GRCm39)	Y753N	probably damaging	Het
Zkscan5	T	A	5: 145,157,071 (GRCm39)	N524K	probably benign	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
R1159:Rxfp4	UTSW	3	88,559,894 (GRCm39)	missense	probably damaging	0.97
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
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

PCR Primer
(F):5'- GCCATCTCCAGAGATAAGCTTTG -3'
(R):5'- ATCTATTGTCTCCTGCGGCG -3'

Sequencing Primer
(F):5'- GAGATAAGCTTTGCCACATCC -3'
(R):5'- CCAGCAGGTTCTTGTCAGC -3'

Posted On

2021-03-08