Mutagenetix > Incidental Mutation

Incidental Mutation 'R9245:Rxfp1'

701194

Institutional Source

Beutler Lab

Gene Symbol

Rxfp1

Ensembl Gene

ENSMUSG00000034009

Gene Name

relaxin/insulin-like family peptide receptor 1

Synonyms

LOC381489, Lgr7

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R9245 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79548918-79645187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79552261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 680 (I680T)

Ref Sequence

ENSEMBL: ENSMUSP00000077611 (fasta)

Gene Model

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

AlphaFold

Q6R6I7

Predicted Effect

probably benign
Transcript: ENSMUST00000078527
AA Change: I680T

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000077611
Gene: ENSMUSG00000034009
AA Change: I680T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	A	11: 77,406,312 (GRCm39)	H96Q	possibly damaging	Het
Ankhd1	A	G	18: 36,788,653 (GRCm39)	Q411R		Het
Ankrd34c	A	T	9: 89,610,940 (GRCm39)	V467E	probably damaging	Het
Apobr	A	T	7: 126,186,507 (GRCm39)	R673*	probably null	Het
Arhgap18	T	C	10: 26,722,107 (GRCm39)	V98A	possibly damaging	Het
Arhgap30	G	T	1: 171,235,957 (GRCm39)	W777L	possibly damaging	Het
Atp8a1	A	G	5: 67,779,977 (GRCm39)	Y1154H	unknown	Het
B3gntl1	A	G	11: 121,514,770 (GRCm39)	F299S	possibly damaging	Het
Baz2a	C	T	10: 127,957,812 (GRCm39)	T1055I	probably benign	Het
Baz2b	T	C	2: 59,743,331 (GRCm39)	M1547V	probably benign	Het
Bsn	T	C	9: 107,993,292 (GRCm39)	D820G	probably damaging	Het
Castor1	T	A	11: 4,170,485 (GRCm39)	N160K	probably damaging	Het
Ccdc57	A	G	11: 120,812,578 (GRCm39)	Y59H	probably damaging	Het
Crim1	T	A	17: 78,651,871 (GRCm39)	C532S	probably damaging	Het
Csmd2	A	C	4: 128,200,168 (GRCm39)	D451A		Het
Cyp2d22	A	T	15: 82,256,748 (GRCm39)	I342K	probably damaging	Het
Des	A	T	1: 75,343,406 (GRCm39)	T430S	probably benign	Het
Dnah17	C	T	11: 118,016,503 (GRCm39)	V283I	probably benign	Het
Dnah9	C	T	11: 65,786,731 (GRCm39)	G3634E	probably benign	Het
Dst	A	G	1: 34,228,943 (GRCm39)	S2179G	probably benign	Het
Elp1	C	A	4: 56,771,003 (GRCm39)	R980L	probably benign	Het
Esrp2	T	A	8: 106,858,775 (GRCm39)	T621S	possibly damaging	Het
Ext2	C	T	2: 93,534,836 (GRCm39)	V643I	probably benign	Het
Fastk	G	A	5: 24,649,172 (GRCm39)	P72S	probably benign	Het
Fbxo28	A	G	1: 182,145,566 (GRCm39)	I174T	possibly damaging	Het
Fstl3	C	T	10: 79,614,411 (GRCm39)	L38F	probably damaging	Het
Golgb1	C	T	16: 36,739,181 (GRCm39)	Q2548*	probably null	Het
Gstm3	T	C	3: 107,874,956 (GRCm39)	T99A	probably benign	Het
H2bc15	A	G	13: 21,938,369 (GRCm39)	D26G	unknown	Het
Hadh	T	C	3: 131,034,636 (GRCm39)	N220S	probably damaging	Het
Hnrnpab	T	C	11: 51,497,240 (GRCm39)	T51A	probably benign	Het
Immt	G	T	6: 71,823,350 (GRCm39)	W67L	probably benign	Het
Ints8	T	A	4: 11,213,811 (GRCm39)		probably null	Het
Ipo7	T	C	7: 109,643,826 (GRCm39)	V407A	probably damaging	Het
Kics2	A	T	10: 121,586,273 (GRCm39)	H196L	probably damaging	Het
Kif20b	T	C	19: 34,915,725 (GRCm39)	S501P	probably benign	Het
Krt39	T	G	11: 99,407,450 (GRCm39)	Q348P	probably damaging	Het
Lrp1b	T	A	2: 40,488,456 (GRCm39)	N4543I		Het
Macrod2	T	C	2: 141,652,534 (GRCm39)	V199A	probably benign	Het
Mast2	A	G	4: 116,167,701 (GRCm39)	V1052A	probably damaging	Het
Mfap4	T	C	11: 61,378,007 (GRCm39)	F149S	probably damaging	Het
Moap1	A	G	12: 102,708,526 (GRCm39)	V341A	unknown	Het
Mprip	G	T	11: 59,628,403 (GRCm39)	E283D	possibly damaging	Het
Mrgpra2a	A	G	7: 47,077,004 (GRCm39)	F85L	possibly damaging	Het
Mx1	T	A	16: 97,252,753 (GRCm39)		probably null	Het
Ndc80	A	T	17: 71,807,294 (GRCm39)	M554K	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or52j3	A	T	7: 102,836,194 (GRCm39)	I129F	probably damaging	Het
Or5k1b	T	A	16: 58,581,126 (GRCm39)	K138*	probably null	Het
Or6c38	T	A	10: 128,929,472 (GRCm39)	I124F	probably damaging	Het
Pck1	C	T	2: 172,996,569 (GRCm39)	T161I	probably damaging	Het
Pclo	T	A	5: 14,726,959 (GRCm39)	M1939K	unknown	Het
Pcm1	T	A	8: 41,732,877 (GRCm39)	N711K	probably damaging	Het
Pkd2l1	A	G	19: 44,143,894 (GRCm39)	V393A	probably benign	Het
Pla2g15	G	T	8: 106,889,539 (GRCm39)	A229S	possibly damaging	Het
Plekhg1	G	A	10: 3,907,141 (GRCm39)	R741Q		Het
Plod1	A	G	4: 148,010,626 (GRCm39)	L275P	possibly damaging	Het
Plvap	G	T	8: 71,964,323 (GRCm39)	T13K	possibly damaging	Het
Plxna1	A	T	6: 89,314,320 (GRCm39)	I707N	probably damaging	Het
Pnma8b	A	G	7: 16,680,843 (GRCm39)	E609G	probably benign	Het
Ptger4	C	T	15: 5,273,193 (GRCm39)		probably benign	Het
Qars1	G	T	9: 108,386,132 (GRCm39)	E108*	probably null	Het
Rfpl4	C	A	7: 5,113,840 (GRCm39)	D114Y	probably damaging	Het
Rint1	A	G	5: 24,010,411 (GRCm39)	T207A	probably benign	Het
Skint2	A	T	4: 112,502,616 (GRCm39)	K275N	probably benign	Het
Slc29a3	A	G	10: 60,559,755 (GRCm39)	V133A	possibly damaging	Het
Slc9a2	A	G	1: 40,805,460 (GRCm39)	K680E	probably benign	Het
Smc1b	A	T	15: 85,004,846 (GRCm39)	F409L	probably benign	Het
Sos2	A	T	12: 69,695,239 (GRCm39)	M166K	probably damaging	Het
Spata31h1	T	C	10: 82,123,554 (GRCm39)	D3152G	probably benign	Het
Tead1	A	G	7: 112,358,723 (GRCm39)	I12V	probably benign	Het
Tead3	C	A	17: 28,551,709 (GRCm39)	K461N	probably benign	Het
Tex12	C	A	9: 50,468,772 (GRCm39)	A83S	probably damaging	Het
Top6bl	T	G	19: 4,746,068 (GRCm39)	K199Q	possibly damaging	Het
Ttc28	A	G	5: 111,325,525 (GRCm39)	T319A	unknown	Het
Ttn	T	C	2: 76,728,593 (GRCm39)	I5496V	unknown	Het
Tubb4a	T	A	17: 57,387,959 (GRCm39)	I356F	possibly damaging	Het
Txk	A	T	5: 72,891,610 (GRCm39)	W119R	probably damaging	Het
Txnl4a	A	T	18: 80,261,937 (GRCm39)	I58F	probably benign	Het
Uba6	A	T	5: 86,318,418 (GRCm39)	Y44N	probably damaging	Het
Usp40	T	C	1: 87,878,009 (GRCm39)	T1093A	probably benign	Het
Vmn1r194	T	C	13: 22,428,731 (GRCm39)	I116T	probably benign	Het
Vmn2r14	A	G	5: 109,368,176 (GRCm39)	M272T	possibly damaging	Het
Vmn2r85	C	A	10: 130,255,033 (GRCm39)	M550I	possibly damaging	Het
Vmn2r85	C	A	10: 130,261,534 (GRCm39)	V268F	probably damaging	Het
Vwa5b2	T	A	16: 20,416,890 (GRCm39)	V529E	probably damaging	Het
Zfp141	A	T	7: 42,124,821 (GRCm39)	Y550*	probably null	Het
Zik1	G	A	7: 10,224,156 (GRCm39)	L314F	probably 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
IGL02985:Rxfp1	APN	3	79,559,533 (GRCm39)	missense	possibly damaging	0.65
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTCATGAACCCAGAGGAC -3'
(R):5'- TTCAGAGAAAGCCTCCAGAGC -3'

Sequencing Primer
(F):5'- AGGACATCTCCTGCAAGGG -3'
(R):5'- GAGCACTGGCATTCCTTTAAACACTG -3'

Posted On

2022-03-25