Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02985:Rxfp1'

406689

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rxfp1

Ensembl Gene

ENSMUSG00000034009

Gene Name

relaxin/insulin-like family peptide receptor 1

Synonyms

LOC381489, Lgr7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

IGL02985

Quality Score

Status

Chromosome

Chromosomal Location

79548918-79645187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 79559533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 429 (M429I)

Ref Sequence

ENSEMBL: ENSMUSP00000077611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078527] [ENSMUST00000182491]

AlphaFold

Q6R6I7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078527
AA Change: M429I

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077611
Gene: ENSMUSG00000034009
AA Change: M429I

Domain	Start	End	E-Value	Type
LDLa	26	64	1.61e-8	SMART
LRRNT	101	130	9.51e-1	SMART
LRR	126	148	3.65e1	SMART
LRR	149	172	1.19e1	SMART
LRR_TYP	173	196	4.61e-5	SMART
LRR	197	220	1.86e0	SMART
LRR	221	244	1.86e2	SMART
LRR	246	269	2.03e1	SMART
LRR	270	293	1.76e2	SMART
LRR_TYP	294	317	4.24e-4	SMART
LRR	318	341	1.15e1	SMART
LRR	342	365	3.65e1	SMART
Pfam:7tm_1	422	681	2.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182491

SMART Domains

Protein: ENSMUSP00000138578
Gene: ENSMUSG00000034009

Domain	Start	End	E-Value	Type
LDLa	26	64	1.61e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183199

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane receptor superfamily. The encoded protein plays a critical role in sperm motility, pregnancy and parturition as a receptor for the protein hormone relaxin. Decreased expression of this gene may play a role in endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display reduced male fertility, particularly at younger ages and early generations. Impaired nipple development prevents nursing by females. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	T	C	2: 113,878,641 (GRCm39)	E318G	probably damaging	Het
Birc6	T	C	17: 74,947,185 (GRCm39)	V2968A	probably benign	Het
Bltp1	T	C	3: 37,012,906 (GRCm39)	L1862S	probably damaging	Het
Cfap91	T	A	16: 38,118,634 (GRCm39)	I722F	probably damaging	Het
Csgalnact1	A	G	8: 68,913,695 (GRCm39)	V170A	probably benign	Het
Dnaaf10	G	A	11: 17,179,845 (GRCm39)	G282E	probably damaging	Het
Dph1	A	G	11: 75,074,419 (GRCm39)	V131A	possibly damaging	Het
Galr1	A	T	18: 82,411,855 (GRCm39)	M337K	probably benign	Het
Gm14214	G	T	2: 154,611,374 (GRCm39)	T160N	probably benign	Het
Gpatch8	G	T	11: 102,372,336 (GRCm39)	H401N	unknown	Het
Higd1a	A	G	9: 121,681,596 (GRCm39)	F20L	probably benign	Het
Hmcn1	A	T	1: 150,547,668 (GRCm39)	I2761K	probably damaging	Het
Hspg2	T	A	4: 137,235,114 (GRCm39)	Y83N	probably damaging	Het
Ilvbl	C	T	10: 78,414,901 (GRCm39)	P255S	probably benign	Het
Kpna2	T	C	11: 106,880,163 (GRCm39)	Y495C	probably benign	Het
Krt36	G	T	11: 99,994,005 (GRCm39)	Q327K	probably benign	Het
Lrrc34	T	C	3: 30,690,444 (GRCm39)	M153V	probably benign	Het
Map9	A	T	3: 82,267,209 (GRCm39)	R30*	probably null	Het
Mcf2l	A	G	8: 13,013,239 (GRCm39)	Y48C	probably damaging	Het
Mfsd13b	T	A	7: 120,599,395 (GRCm39)	I397K	probably damaging	Het
Mpp7	C	A	18: 7,461,637 (GRCm39)		probably null	Het
Mrgprx2	C	T	7: 48,132,245 (GRCm39)	C191Y	probably damaging	Het
Or4c58	A	T	2: 89,674,684 (GRCm39)	I211N	possibly damaging	Het
Pabpc4l	A	G	3: 46,401,017 (GRCm39)	V209A	possibly damaging	Het
Pde7a	T	A	3: 19,365,047 (GRCm39)	H40L	probably damaging	Het
Phactr3	T	C	2: 177,817,250 (GRCm39)	V22A	probably benign	Het
Plcl2	G	T	17: 50,994,842 (GRCm39)	E1104*	probably null	Het
Ppp2cb	A	G	8: 34,105,474 (GRCm39)		probably benign	Het
Prl3c1	A	T	13: 27,383,370 (GRCm39)	Y12F	probably damaging	Het
Prune2	T	C	19: 16,993,723 (GRCm39)		probably null	Het
Rfesd	T	C	13: 76,156,331 (GRCm39)	D25G	probably damaging	Het
Tmf1	A	G	6: 97,153,770 (GRCm39)	L101P	probably damaging	Het
Ube2d2b	T	C	5: 107,978,663 (GRCm39)	S105P	probably damaging	Het
Zfp518a	C	T	19: 40,902,111 (GRCm39)	T680I	possibly damaging	Het

Other mutations in Rxfp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01758:Rxfp1	APN	3	79,559,523 (GRCm39)	missense	possibly damaging	0.81
IGL01962:Rxfp1	APN	3	79,594,175 (GRCm39)	missense	probably damaging	1.00
IGL01975:Rxfp1	APN	3	79,567,385 (GRCm39)	missense	possibly damaging	0.95
IGL01998:Rxfp1	APN	3	79,567,403 (GRCm39)	missense	probably benign	0.01
IGL02049:Rxfp1	APN	3	79,557,799 (GRCm39)	missense	probably damaging	0.99
IGL02153:Rxfp1	APN	3	79,567,427 (GRCm39)	missense	probably benign	0.00
IGL02490:Rxfp1	APN	3	79,559,474 (GRCm39)	critical splice donor site	probably null
IGL02526:Rxfp1	APN	3	79,578,153 (GRCm39)	critical splice donor site	probably null
IGL03252:Rxfp1	APN	3	79,574,990 (GRCm39)	missense	probably benign	0.29
juggler	UTSW	3	79,557,898 (GRCm39)	nonsense	probably null
R0123:Rxfp1	UTSW	3	79,564,783 (GRCm39)	missense	probably damaging	1.00
R0134:Rxfp1	UTSW	3	79,564,783 (GRCm39)	missense	probably damaging	1.00
R0230:Rxfp1	UTSW	3	79,552,282 (GRCm39)	missense	probably damaging	1.00
R0257:Rxfp1	UTSW	3	79,589,842 (GRCm39)	missense	possibly damaging	0.61
R0265:Rxfp1	UTSW	3	79,574,961 (GRCm39)	missense	probably benign	0.00
R0362:Rxfp1	UTSW	3	79,645,100 (GRCm39)	start codon destroyed	probably null	0.99
R0394:Rxfp1	UTSW	3	79,559,684 (GRCm39)	missense	possibly damaging	0.58
R0422:Rxfp1	UTSW	3	79,558,038 (GRCm39)	missense	probably benign	0.00
R0547:Rxfp1	UTSW	3	79,612,876 (GRCm39)	splice site	probably null
R0627:Rxfp1	UTSW	3	79,555,518 (GRCm39)	missense	probably benign	0.00
R0671:Rxfp1	UTSW	3	79,570,600 (GRCm39)	splice site	probably null
R1309:Rxfp1	UTSW	3	79,570,599 (GRCm39)	splice site	probably null
R1756:Rxfp1	UTSW	3	79,578,188 (GRCm39)	missense	probably benign	0.11
R1803:Rxfp1	UTSW	3	79,645,076 (GRCm39)	missense	probably benign
R2415:Rxfp1	UTSW	3	79,570,626 (GRCm39)	missense	probably benign	0.14
R2862:Rxfp1	UTSW	3	79,589,778 (GRCm39)	missense	possibly damaging	0.80
R4087:Rxfp1	UTSW	3	79,552,256 (GRCm39)	missense	probably damaging	0.99
R4091:Rxfp1	UTSW	3	79,552,068 (GRCm39)	missense	probably benign
R4250:Rxfp1	UTSW	3	79,559,579 (GRCm39)	missense	probably benign	0.41
R4335:Rxfp1	UTSW	3	79,594,105 (GRCm39)	critical splice donor site	probably null
R4447:Rxfp1	UTSW	3	79,559,434 (GRCm39)	intron	probably benign
R4607:Rxfp1	UTSW	3	79,594,196 (GRCm39)	missense	probably damaging	1.00
R4608:Rxfp1	UTSW	3	79,594,196 (GRCm39)	missense	probably damaging	1.00
R4676:Rxfp1	UTSW	3	79,612,975 (GRCm39)	missense	probably damaging	1.00
R4768:Rxfp1	UTSW	3	79,594,175 (GRCm39)	missense	probably damaging	1.00
R4812:Rxfp1	UTSW	3	79,557,889 (GRCm39)	missense	probably benign	0.00
R4909:Rxfp1	UTSW	3	79,552,109 (GRCm39)	missense	probably benign
R5059:Rxfp1	UTSW	3	79,570,619 (GRCm39)	missense	probably benign
R5131:Rxfp1	UTSW	3	79,559,471 (GRCm39)	splice site	probably null
R5641:Rxfp1	UTSW	3	79,594,199 (GRCm39)	missense	probably damaging	0.98
R5711:Rxfp1	UTSW	3	79,586,054 (GRCm39)	missense	probably damaging	1.00
R5757:Rxfp1	UTSW	3	79,568,627 (GRCm39)	missense	possibly damaging	0.89
R5856:Rxfp1	UTSW	3	79,570,620 (GRCm39)	missense	possibly damaging	0.76
R6296:Rxfp1	UTSW	3	79,575,155 (GRCm39)	missense	probably damaging	1.00
R6462:Rxfp1	UTSW	3	79,555,596 (GRCm39)	missense	probably benign	0.07
R6730:Rxfp1	UTSW	3	79,557,898 (GRCm39)	nonsense	probably null
R7059:Rxfp1	UTSW	3	79,559,576 (GRCm39)	missense	probably damaging	1.00
R7530:Rxfp1	UTSW	3	79,557,768 (GRCm39)	missense	probably benign	0.18
R7626:Rxfp1	UTSW	3	79,555,397 (GRCm39)	missense	probably damaging	0.99
R7684:Rxfp1	UTSW	3	79,578,214 (GRCm39)	missense	possibly damaging	0.66
R7951:Rxfp1	UTSW	3	79,559,682 (GRCm39)	missense	probably damaging	1.00
R8723:Rxfp1	UTSW	3	79,557,802 (GRCm39)	missense	probably benign
R8786:Rxfp1	UTSW	3	79,570,677 (GRCm39)	critical splice acceptor site	probably null
R8887:Rxfp1	UTSW	3	79,559,289 (GRCm39)	intron	probably benign
R8939:Rxfp1	UTSW	3	79,552,231 (GRCm39)	missense	probably damaging	0.99
R9245:Rxfp1	UTSW	3	79,552,261 (GRCm39)	missense	probably benign	0.12
R9574:Rxfp1	UTSW	3	79,563,581 (GRCm39)	missense	probably benign	0.01
R9579:Rxfp1	UTSW	3	79,557,946 (GRCm39)	missense	probably damaging	1.00
R9799:Rxfp1	UTSW	3	79,578,182 (GRCm39)	missense	probably damaging	1.00
Z1088:Rxfp1	UTSW	3	79,613,011 (GRCm39)	missense	probably damaging	1.00
Z1177:Rxfp1	UTSW	3	79,559,674 (GRCm39)	nonsense	probably null

Posted On

2016-08-02