Mutagenetix > Incidental Mutation

Incidental Mutation 'R7468:Rxfp2'

578941

Institutional Source

Beutler Lab

Gene Symbol

Rxfp2

Ensembl Gene

ENSMUSG00000053368

Gene Name

relaxin/insulin-like family peptide receptor 2

Synonyms

LGR8, Gpr106, Great

MMRRC Submission

045542-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7468 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149942140-150005649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 149990801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 521 (T521S)

Ref Sequence

ENSEMBL: ENSMUSP00000067897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065745] [ENSMUST00000110496] [ENSMUST00000201612]

AlphaFold

Q91ZZ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065745
AA Change: T521S

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
AA Change: T521S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LDLa	27	65	2.55e-11	SMART
LRRNT	93	124	3.83e0	SMART
LRR	120	142	1.71e2	SMART
LRR	143	166	6.77e0	SMART
LRR_TYP	167	190	2.84e-5	SMART
LRR	191	214	7.36e0	SMART
LRR	215	238	1.26e1	SMART
LRR	239	262	2.61e1	SMART
LRR	263	286	8.98e1	SMART
LRR_TYP	287	310	2.24e-3	SMART
LRR	311	334	1.15e1	SMART
LRR	335	358	2.14e1	SMART
Pfam:7tm_1	415	674	1.4e-26	PFAM
low complexity region	682	695	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110496
AA Change: T497S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
AA Change: T497S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LDLa	27	65	2.55e-11	SMART
LRRNT	93	124	3.83e0	SMART
LRR	120	142	1.71e2	SMART
LRR	143	166	6.77e0	SMART
LRR_TYP	167	190	2.84e-5	SMART
LRR	191	214	7.36e0	SMART
LRR	215	238	1.26e1	SMART
LRR	239	262	2.61e1	SMART
LRR	263	286	2.82e0	SMART
LRR	287	310	1.15e1	SMART
LRR	311	334	2.14e1	SMART
Pfam:7tm_1	391	650	1.5e-27	PFAM
low complexity region	658	671	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201612
AA Change: T511S

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: T511S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LDLa	27	65	1.3e-13	SMART
LRRNT	93	124	1.9e-2	SMART
LRR	120	142	7.4e-1	SMART
LRR	143	166	2.9e-2	SMART
LRR_TYP	167	190	1.2e-7	SMART
LRR	229	252	5.4e-2	SMART
LRR	253	276	1.1e-1	SMART
LRR	277	300	1.2e-2	SMART
LRR	301	324	5e-2	SMART
LRR	325	348	9.3e-2	SMART
Pfam:7tm_1	405	664	1.5e-24	PFAM
low complexity region	672	685	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (86/88)

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 GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Male homozygotes for a targeted null mutation exhibit bilateral intraabdominal cryptorchidism and sterility associated with a failure in the differentiation of the gubernaculae, ligaments that control testicular movement during development. [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
Abl2	T	G	1: 156,450,104 (GRCm39)	N90K	possibly damaging	Het
Acox1	T	C	11: 116,069,001 (GRCm39)	T415A	possibly damaging	Het
Acy1	T	C	9: 106,314,921 (GRCm39)	M1V	probably null	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Alpk3	C	A	7: 80,750,746 (GRCm39)	Y1505*	probably null	Het
Ankrd17	T	C	5: 90,390,902 (GRCm39)	N2256S	probably benign	Het
Ankrd22	C	A	19: 34,126,692 (GRCm39)	C46F	possibly damaging	Het
Arhgef5	A	T	6: 43,257,605 (GRCm39)	K1291*	probably null	Het
Arl9	T	A	5: 77,158,276 (GRCm39)	Y119*	probably null	Het
Asb14	T	C	14: 26,622,805 (GRCm39)	V89A	probably benign	Het
Banp	T	G	8: 122,676,588 (GRCm39)		probably null	Het
Btn2a2	T	C	13: 23,666,933 (GRCm39)	N224S	probably benign	Het
C1ra	C	T	6: 124,499,403 (GRCm39)	Q530*	probably null	Het
C2cd6	A	C	1: 59,107,844 (GRCm39)	S273A	probably benign	Het
Cd1d2	A	T	3: 86,895,583 (GRCm39)		probably null	Het
Cdc42bpb	T	C	12: 111,306,307 (GRCm39)	D132G	probably damaging	Het
Cfap45	C	A	1: 172,362,877 (GRCm39)	Y289*	probably null	Het
Chrdl2	T	C	7: 99,659,332 (GRCm39)		probably null	Het
Cilk1	A	G	9: 78,065,221 (GRCm39)	K377R	probably benign	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Dcaf11	T	C	14: 55,802,966 (GRCm39)	F292L	possibly damaging	Het
Dgcr8	A	G	16: 18,077,487 (GRCm39)	F641S	probably damaging	Het
Dnm3	G	A	1: 162,149,198 (GRCm39)		probably null	Het
Efcab3	G	T	11: 104,640,526 (GRCm39)	S1088I	probably benign	Het
Eral1	T	C	11: 77,966,219 (GRCm39)	K320E	probably damaging	Het
Eva1a	A	G	6: 82,069,002 (GRCm39)	T110A	possibly damaging	Het
Fbxo42	A	G	4: 140,926,917 (GRCm39)	D399G	possibly damaging	Het
Frs2	T	C	10: 116,910,007 (GRCm39)	T452A	possibly damaging	Het
Git2	T	A	5: 114,871,958 (GRCm39)	D542V	probably damaging	Het
Grk2	T	A	19: 4,356,063 (GRCm39)		probably benign	Het
Gsg1l2	A	G	11: 67,676,110 (GRCm39)	N158S	possibly damaging	Het
Hc	T	C	2: 34,918,063 (GRCm39)	N740S	probably benign	Het
Hectd1	T	C	12: 51,791,588 (GRCm39)		probably null	Het
Hemk1	A	G	9: 107,208,288 (GRCm39)		probably null	Het
Hormad2	G	T	11: 4,362,245 (GRCm39)	Y126*	probably null	Het
Hr	A	G	14: 70,795,652 (GRCm39)	E399G	possibly damaging	Het
Ilf3	C	A	9: 21,314,707 (GRCm39)	H780N	unknown	Het
Inpp5e	A	T	2: 26,298,161 (GRCm39)	S147T	probably benign	Het
Irag2	C	A	6: 145,119,427 (GRCm39)		probably null	Het
Jmjd6	T	C	11: 116,733,275 (GRCm39)	D134G	probably damaging	Het
Kif23	G	T	9: 61,844,457 (GRCm39)	Y120*	probably null	Het
Klk12	T	A	7: 43,422,780 (GRCm39)	Y236N	probably damaging	Het
Kmt5b	C	A	19: 3,852,799 (GRCm39)	Y186*	probably null	Het
Krtap9-5	A	G	11: 99,840,132 (GRCm39)	T278A	unknown	Het
Lca5	T	A	9: 83,305,509 (GRCm39)	D99V	probably damaging	Het
Leng9	A	G	7: 4,151,800 (GRCm39)	V292A	probably benign	Het
Lime1	A	G	2: 181,025,135 (GRCm39)	R231G	probably benign	Het
Mctp2	T	A	7: 71,861,438 (GRCm39)	E402D	probably damaging	Het
Mrpl28	T	A	17: 26,343,589 (GRCm39)	S116R	probably damaging	Het
Muc15	A	T	2: 110,561,862 (GRCm39)	R99S	probably benign	Het
Myh2	G	A	11: 67,083,368 (GRCm39)	A1444T	probably benign	Het
Mynn	T	A	3: 30,657,825 (GRCm39)	Y48N	probably damaging	Het
Myo1b	A	T	1: 51,836,639 (GRCm39)	V274E	possibly damaging	Het
Nemp1	T	A	10: 127,528,923 (GRCm39)	M209K	possibly damaging	Het
Nlrc4	G	T	17: 74,752,507 (GRCm39)	D625E	probably benign	Het
Or10al6	C	T	17: 38,082,910 (GRCm39)	A122V	probably damaging	Het
Or11a4	T	C	17: 37,536,276 (GRCm39)	F87L	probably benign	Het
Or4p4	T	C	2: 88,482,622 (GRCm39)	L42P	probably damaging	Het
Otog	T	C	7: 45,913,543 (GRCm39)	V792A	probably benign	Het
Paqr8	T	C	1: 21,005,442 (GRCm39)	Y199H	probably damaging	Het
Popdc3	A	G	10: 45,191,117 (GRCm39)	D76G	probably damaging	Het
Ppme1	T	C	7: 99,991,069 (GRCm39)	N210D	probably benign	Het
Prdm15	A	C	16: 97,636,842 (GRCm39)	Y158*	probably null	Het
Prrg2	A	T	7: 44,709,687 (GRCm39)	L70Q	probably benign	Het
Psmg4	C	T	13: 34,361,966 (GRCm39)	R85W	probably damaging	Het
Rab11fip4	A	T	11: 79,580,478 (GRCm39)	T437S	probably benign	Het
Rap2a	T	A	14: 120,716,338 (GRCm39)	M67K	probably damaging	Het
Rnf123	A	T	9: 107,946,208 (GRCm39)	H322Q	probably benign	Het
Scrn2	T	G	11: 96,923,992 (GRCm39)	V292G	possibly damaging	Het
Serpina3n	C	A	12: 104,377,656 (GRCm39)	P303H	probably benign	Het
Spop	C	T	11: 95,376,727 (GRCm39)	T260M	probably damaging	Het
Surf2	G	A	2: 26,809,354 (GRCm39)	G224D	probably benign	Het
Synm	T	G	7: 67,382,971 (GRCm39)	N669T	unknown	Het
Tmprss13	T	C	9: 45,239,721 (GRCm39)	S10P	unknown	Het
Trav9d-1	T	A	14: 53,029,970 (GRCm39)	S25T	probably benign	Het
Trpc3	A	T	3: 36,678,565 (GRCm39)	I840K	probably damaging	Het
Tsbp1	T	A	17: 34,636,539 (GRCm39)		probably null	Het
Tssc4	C	A	7: 142,622,999 (GRCm39)		probably benign	Het
Ttc39d	G	T	17: 80,523,579 (GRCm39)	R79S	possibly damaging	Het
Txlnb	T	A	10: 17,675,082 (GRCm39)	S78R	probably damaging	Het
Vmn1r142	T	A	7: 21,862,784 (GRCm39)	Q226L	possibly damaging	Het
Vmn1r230	T	C	17: 21,067,146 (GRCm39)	S112P	probably damaging	Het
Wrnip1	T	C	13: 33,000,360 (GRCm39)	F456L	possibly damaging	Het
Zc3h8	G	T	2: 128,775,215 (GRCm39)	H148Q	probably benign	Het
Zcchc3	A	G	2: 152,256,615 (GRCm39)	V28A	probably benign	Het
Zdbf2	T	A	1: 63,346,669 (GRCm39)	C1683S	probably benign	Het
Zfp874a	T	C	13: 67,573,723 (GRCm39)		probably null	Het
Zmym4	A	G	4: 126,776,029 (GRCm39)	S1260P	probably benign	Het

Other mutations in Rxfp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Rxfp2	APN	5	149,989,893 (GRCm39)	missense	probably benign
IGL00984:Rxfp2	APN	5	149,990,597 (GRCm39)	missense	probably benign	0.24
IGL02475:Rxfp2	APN	5	149,987,151 (GRCm39)	missense	probably benign	0.07
IGL02637:Rxfp2	APN	5	149,979,378 (GRCm39)	missense	probably damaging	0.99
IGL02992:Rxfp2	APN	5	149,975,021 (GRCm39)	missense	probably benign	0.01
IGL03052:Rxfp2	APN	5	149,966,645 (GRCm39)	splice site	probably benign
IGL03203:Rxfp2	APN	5	149,987,145 (GRCm39)	missense	probably benign	0.08
R0158:Rxfp2	UTSW	5	149,975,093 (GRCm39)	missense	probably benign	0.14
R0394:Rxfp2	UTSW	5	149,990,853 (GRCm39)	missense	probably benign	0.03
R0499:Rxfp2	UTSW	5	149,989,880 (GRCm39)	missense	probably damaging	1.00
R0576:Rxfp2	UTSW	5	149,961,712 (GRCm39)	missense	probably benign	0.01
R0720:Rxfp2	UTSW	5	149,967,584 (GRCm39)	missense	probably benign	0.04
R1172:Rxfp2	UTSW	5	149,975,021 (GRCm39)	missense	probably benign	0.01
R1173:Rxfp2	UTSW	5	149,975,021 (GRCm39)	missense	probably benign	0.01
R1174:Rxfp2	UTSW	5	149,975,021 (GRCm39)	missense	probably benign	0.01
R1175:Rxfp2	UTSW	5	149,975,021 (GRCm39)	missense	probably benign	0.01
R1606:Rxfp2	UTSW	5	149,983,362 (GRCm39)	missense	probably benign
R1720:Rxfp2	UTSW	5	149,966,564 (GRCm39)	nonsense	probably null
R2040:Rxfp2	UTSW	5	149,993,677 (GRCm39)	missense	probably benign
R3029:Rxfp2	UTSW	5	149,966,595 (GRCm39)	missense	probably benign	0.05
R3905:Rxfp2	UTSW	5	149,979,450 (GRCm39)	splice site	probably null
R4056:Rxfp2	UTSW	5	149,975,098 (GRCm39)	critical splice donor site	probably null
R4156:Rxfp2	UTSW	5	149,975,020 (GRCm39)	missense	probably benign	0.01
R4282:Rxfp2	UTSW	5	149,993,735 (GRCm39)	missense	possibly damaging	0.94
R4418:Rxfp2	UTSW	5	149,972,265 (GRCm39)	missense	probably benign
R4935:Rxfp2	UTSW	5	149,975,097 (GRCm39)	critical splice donor site	probably null
R5010:Rxfp2	UTSW	5	149,990,825 (GRCm39)	missense	probably damaging	1.00
R5286:Rxfp2	UTSW	5	149,958,909 (GRCm39)	missense	probably damaging	1.00
R5373:Rxfp2	UTSW	5	149,993,725 (GRCm39)	missense	probably benign	0.21
R5374:Rxfp2	UTSW	5	149,993,725 (GRCm39)	missense	probably benign	0.21
R5530:Rxfp2	UTSW	5	149,980,275 (GRCm39)	missense	probably damaging	1.00
R5844:Rxfp2	UTSW	5	149,966,589 (GRCm39)	missense	probably benign	0.00
R6021:Rxfp2	UTSW	5	149,987,202 (GRCm39)	missense	possibly damaging	0.46
R6211:Rxfp2	UTSW	5	149,967,591 (GRCm39)	splice site	probably null
R6401:Rxfp2	UTSW	5	149,966,595 (GRCm39)	missense	probably benign
R6841:Rxfp2	UTSW	5	149,942,210 (GRCm39)	start gained	probably benign
R6981:Rxfp2	UTSW	5	149,972,313 (GRCm39)	splice site	probably null
R7012:Rxfp2	UTSW	5	150,004,659 (GRCm39)	missense	probably benign	0.00
R7032:Rxfp2	UTSW	5	149,993,813 (GRCm39)	missense	probably damaging	1.00
R7151:Rxfp2	UTSW	5	149,966,572 (GRCm39)	missense	probably benign	0.01
R7205:Rxfp2	UTSW	5	149,983,368 (GRCm39)	missense	probably benign	0.00
R7205:Rxfp2	UTSW	5	149,983,364 (GRCm39)	missense	probably benign	0.05
R7209:Rxfp2	UTSW	5	149,976,563 (GRCm39)	splice site	probably null
R7475:Rxfp2	UTSW	5	149,973,046 (GRCm39)	missense	possibly damaging	0.94
R8181:Rxfp2	UTSW	5	149,987,201 (GRCm39)	missense	probably benign	0.22
R8258:Rxfp2	UTSW	5	149,983,365 (GRCm39)	missense	probably damaging	0.97
R8259:Rxfp2	UTSW	5	149,983,365 (GRCm39)	missense	probably damaging	0.97
R8443:Rxfp2	UTSW	5	149,973,068 (GRCm39)	missense	possibly damaging	0.45
R8470:Rxfp2	UTSW	5	149,993,834 (GRCm39)	missense	possibly damaging	0.94
R8796:Rxfp2	UTSW	5	149,942,262 (GRCm39)	start gained	probably benign
R8906:Rxfp2	UTSW	5	149,989,888 (GRCm39)	missense	possibly damaging	0.90
R9515:Rxfp2	UTSW	5	149,979,444 (GRCm39)	missense	possibly damaging	0.61
R9682:Rxfp2	UTSW	5	149,966,564 (GRCm39)	nonsense	probably null
R9732:Rxfp2	UTSW	5	149,993,767 (GRCm39)	missense	probably damaging	1.00
X0067:Rxfp2	UTSW	5	149,975,083 (GRCm39)	missense	probably damaging	1.00
Z1177:Rxfp2	UTSW	5	149,972,275 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGACATCAAGTACCGAGGGC -3'
(R):5'- GTGGTGTCTCTGTGAAATCAAAG -3'

Sequencing Primer
(F):5'- CAGTATCAGAAGTATGCGCTGCTG -3'
(R):5'- AATTTACCTAGGAAAATCCCAAGGG -3'

Posted On

2019-10-07