Mutagenetix > Incidental Mutation

Incidental Mutation 'R6296:Rxfp1'

508749

Institutional Source

Beutler Lab

Gene Symbol

Rxfp1

Ensembl Gene

ENSMUSG00000034009

Gene Name

relaxin/insulin-like family peptide receptor 1

Synonyms

LOC381489, Lgr7

MMRRC Submission

044407-MU

Accession Numbers

Essential gene?

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

Stock #

R6296 (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 C at 79575155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 181 (L181R)

Ref Sequence

ENSEMBL: ENSMUSP00000077611 (fasta)

Gene Model

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

AlphaFold

Q6R6I7

Predicted Effect

probably damaging
Transcript: ENSMUST00000078527
AA Change: L181R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077611
Gene: ENSMUSG00000034009
AA Change: L181R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,086,580 (GRCm39)	K277R	probably damaging	Het
Aatf	T	C	11: 84,363,926 (GRCm39)	Y267C	probably benign	Het
Adcy5	A	G	16: 35,124,080 (GRCm39)	Y1253C	probably damaging	Het
Adgra3	G	A	5: 50,118,189 (GRCm39)	P1120S	probably benign	Het
Adm	A	G	7: 110,227,561 (GRCm39)	T26A	probably benign	Het
Ahnak	T	G	19: 8,980,669 (GRCm39)	V651G	probably damaging	Het
Akr7a5	G	A	4: 139,045,532 (GRCm39)	V358I	probably benign	Het
Ankar	T	G	1: 72,682,417 (GRCm39)	T1383P	probably damaging	Het
Bpifb6	G	C	2: 153,748,812 (GRCm39)	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,575,684 (GRCm39)	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,629,675 (GRCm39)	T1249S	probably benign	Het
Cacna1h	G	A	17: 25,602,053 (GRCm39)	R1596C	probably damaging	Het
Cbll1	A	G	12: 31,537,507 (GRCm39)	V415A	probably benign	Het
Cd300lf	C	T	11: 115,015,195 (GRCm39)	V132I	probably benign	Het
Cfap54	T	C	10: 92,902,708 (GRCm39)	Y148C	probably damaging	Het
Coa5	A	G	1: 37,467,428 (GRCm39)	S60P	probably damaging	Het
Col6a2	T	C	10: 76,446,883 (GRCm39)	N342D	probably damaging	Het
Cyp2c29	T	G	19: 39,318,705 (GRCm39)	I434S	possibly damaging	Het
Ddx11	G	A	17: 66,457,724 (GRCm39)		probably null	Het
Dgke	C	T	11: 88,931,575 (GRCm39)	V560I	probably benign	Het
Dusp16	C	A	6: 134,697,456 (GRCm39)		probably null	Het
Enpp4	G	T	17: 44,413,371 (GRCm39)	N54K	probably benign	Het
Epn1	G	A	7: 5,093,122 (GRCm39)	A145T	probably damaging	Het
Erc2	A	T	14: 27,802,112 (GRCm39)	K764M	probably damaging	Het
Ercc6	G	T	14: 32,248,360 (GRCm39)	E304*	probably null	Het
Fam117a	T	A	11: 95,254,971 (GRCm39)	C115S	possibly damaging	Het
Galntl5	T	C	5: 25,391,163 (GRCm39)	S21P	probably benign	Het
Gm6358	T	C	16: 88,937,970 (GRCm39)	S70P	unknown	Het
Grip1	C	T	10: 119,911,369 (GRCm39)	Q696*	probably null	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hsfy2	T	A	1: 56,676,351 (GRCm39)	H62L	probably benign	Het
Ighm	T	C	12: 113,385,187 (GRCm39)	I258V	unknown	Het
Igkv13-71-1	G	T	6: 69,212,783 (GRCm39)		noncoding transcript	Het
Inava	C	T	1: 136,148,809 (GRCm39)		probably null	Het
Irx1	A	C	13: 72,107,787 (GRCm39)	S298R	probably damaging	Het
Jarid2	T	A	13: 45,056,539 (GRCm39)	Y443N	possibly damaging	Het
Kcnc1	G	A	7: 46,084,740 (GRCm39)	A555T	probably benign	Het
Krtap4-6	T	A	11: 99,556,245 (GRCm39)	R161*	probably null	Het
Lipo3	T	C	19: 33,757,737 (GRCm39)	D244G	probably benign	Het
Lmo2	T	G	2: 103,800,946 (GRCm39)	V39G	possibly damaging	Het
Lrch2	C	T	X: 146,263,553 (GRCm39)	A369T	probably damaging	Homo
Macf1	A	T	4: 123,326,668 (GRCm39)	I4943N	probably damaging	Het
Mkx	A	T	18: 7,000,591 (GRCm39)		probably null	Het
Nek1	C	T	8: 61,525,343 (GRCm39)	Q594*	probably null	Het
Nipbl	T	C	15: 8,330,379 (GRCm39)	M2349V	possibly damaging	Het
Nup155	T	A	15: 8,182,639 (GRCm39)	C1201S	probably damaging	Het
Or2y8	C	A	11: 52,035,423 (GRCm39)	R311S	probably benign	Het
Or4a76	G	A	2: 89,460,975 (GRCm39)	T89I	probably damaging	Het
Or5ac25	T	C	16: 59,181,769 (GRCm39)	K271E	probably benign	Het
Osbpl1a	A	G	18: 12,952,560 (GRCm39)		probably null	Het
Pbx1	T	C	1: 168,011,184 (GRCm39)	D372G	possibly damaging	Het
Pikfyve	T	A	1: 65,302,112 (GRCm39)	S1668T	probably damaging	Het
Pitpnc1	T	C	11: 107,117,092 (GRCm39)	H193R	probably damaging	Het
Plag1	G	T	4: 3,904,499 (GRCm39)	H231N	probably damaging	Het
Prmt8	A	G	6: 127,688,767 (GRCm39)	I201T	probably damaging	Het
Ptpn23	A	T	9: 110,222,894 (GRCm39)	N54K	probably damaging	Het
Rab11fip4	T	C	11: 79,581,655 (GRCm39)		probably null	Het
Rassf9	T	A	10: 102,381,614 (GRCm39)	I332N	probably damaging	Het
Rgs9	T	C	11: 109,159,813 (GRCm39)	N173S	probably benign	Het
Rhbdl1	A	G	17: 26,053,943 (GRCm39)	L309P	probably damaging	Het
Rnf214	A	G	9: 45,779,119 (GRCm39)	S389P	probably benign	Het
Sfxn1	C	T	13: 54,247,899 (GRCm39)	T208I	probably benign	Het
Sgo2b	C	T	8: 64,380,827 (GRCm39)	M668I	probably benign	Het
Sh3bp4	C	A	1: 89,073,211 (GRCm39)	S686R	probably damaging	Het
Spata31d1d	G	A	13: 59,876,278 (GRCm39)	T419I	possibly damaging	Het
Spata31d1e	T	C	13: 59,890,497 (GRCm39)	D441G	probably benign	Het
Spink5	T	C	18: 44,147,824 (GRCm39)	S857P	probably damaging	Het
Stard13	A	T	5: 150,986,138 (GRCm39)	S339R	probably damaging	Het
Stk35	T	A	2: 129,652,808 (GRCm39)	Y436*	probably null	Het
Supt6	C	T	11: 78,116,885 (GRCm39)	R589Q	possibly damaging	Het
Tinag	T	A	9: 76,904,217 (GRCm39)	E402V	possibly damaging	Het
Tmem183a	T	C	1: 134,289,349 (GRCm39)	D27G	probably damaging	Het
Tnfrsf13c	T	C	15: 82,108,103 (GRCm39)	T56A	probably damaging	Het
Tnrc18	A	C	5: 142,719,331 (GRCm39)	L1985R	unknown	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Ufl1	G	T	4: 25,270,572 (GRCm39)	Q215K	probably benign	Het
Unkl	T	C	17: 25,450,839 (GRCm39)	*232R	probably null	Het
Wnk4	A	T	11: 101,164,824 (GRCm39)	N718Y	probably damaging	Het
Xkr4	T	C	1: 3,286,793 (GRCm39)	T466A	probably benign	Het
Zfp451	T	A	1: 33,808,898 (GRCm39)	K988*	probably null	Het
Zfp503	G	C	14: 22,035,868 (GRCm39)	Y349*	probably null	Het
Zfp990	T	A	4: 145,264,673 (GRCm39)	F557Y	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCGTAAAATGTGAGTGGGG -3'
(R):5'- CCAATTCATTAGCCAACTGTGGG -3'

Sequencing Primer
(F):5'- AAATTCGACTGAGGTGATTGTCTTC -3'
(R):5'- TAGCCAACTGTGGGAAATTTAAAGC -3'

Posted On

2018-04-02