Mutagenetix > Incidental Mutation

Incidental Mutation 'R8906:Rxfp2'

680107

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

068699-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8906 (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 149989888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 423 (H423L)

Ref Sequence

ENSEMBL: ENSMUSP00000144536 (fasta)

Gene Model

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

AlphaFold

Q91ZZ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065745
AA Change: H433L

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
AA Change: H433L

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

SMART Domains

Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
AA Change: H409L

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: H423L

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: H423L

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

Meta Mutation Damage Score

0.5963

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (88/88)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	C	19: 3,766,686 (GRCm39)	N91T	possibly damaging	Het
2510009E07Rik	CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA	CCGGA	16: 21,472,148 (GRCm39)		probably null	Het
4932414N04Rik	A	G	2: 68,562,498 (GRCm39)	D375G	possibly damaging	Het
Adad2	C	A	8: 120,339,725 (GRCm39)	P69Q	probably benign	Het
Adamts3	G	A	5: 89,825,575 (GRCm39)	T1088I	probably damaging	Het
Ank2	A	G	3: 126,726,720 (GRCm39)	V858A	probably benign	Het
Ankrd13a	A	G	5: 114,939,798 (GRCm39)	N475S	probably benign	Het
Barhl2	G	A	5: 106,603,352 (GRCm39)	T269I	probably benign	Het
Boc	G	A	16: 44,323,931 (GRCm39)	R157W		Het
Bsn	G	T	9: 107,984,752 (GRCm39)	P3101T	unknown	Het
Catsperb	C	A	12: 101,486,904 (GRCm39)	A477E	possibly damaging	Het
Ccser1	T	A	6: 61,787,842 (GRCm39)	I220K	probably benign	Het
Cd200r3	A	T	16: 44,778,102 (GRCm39)	I242F	possibly damaging	Het
Cdc34b	A	C	11: 94,632,911 (GRCm39)	D37A	probably damaging	Het
Chek2	A	G	5: 111,013,458 (GRCm39)		probably benign	Het
Cngb1	A	T	8: 95,989,736 (GRCm39)	V792D	probably damaging	Het
Cops7a	T	C	6: 124,939,371 (GRCm39)	K93E	possibly damaging	Het
Crispld1	T	C	1: 17,820,995 (GRCm39)	I345T	possibly damaging	Het
Dgkd	A	G	1: 87,869,157 (GRCm39)	D1170G	probably damaging	Het
Dhx35	A	G	2: 158,648,918 (GRCm39)	T115A	possibly damaging	Het
Dnai1	G	A	4: 41,625,125 (GRCm39)	R363H	probably benign	Het
Dnmbp	T	A	19: 43,878,681 (GRCm39)	Q130L	probably benign	Het
Egfr	A	G	11: 16,861,635 (GRCm39)	Y1138C	probably damaging	Het
Elf3	A	T	1: 135,182,678 (GRCm39)	L329Q	probably damaging	Het
Enkur	A	G	2: 21,201,568 (GRCm39)	M39T	probably benign	Het
Epha7	T	C	4: 28,821,615 (GRCm39)	I260T	probably damaging	Het
Fbxo28	A	T	1: 182,144,634 (GRCm39)	I310K	probably damaging	Het
Fga	C	A	3: 82,939,111 (GRCm39)	N495K	probably benign	Het
Galnt6	T	C	15: 100,601,247 (GRCm39)	D344G	probably damaging	Het
Gm572	A	G	4: 148,751,290 (GRCm39)	Q221R	probably benign	Het
Gpa33	G	A	1: 165,974,216 (GRCm39)	A18T	probably benign	Het
Gpatch11	C	T	17: 79,145,289 (GRCm39)	T6I	probably benign	Het
Gpr84	T	A	15: 103,217,625 (GRCm39)	S151C	probably damaging	Het
H2-M11	T	A	17: 36,859,851 (GRCm39)	Y281*	probably null	Het
Hadh	T	C	3: 131,038,891 (GRCm39)	N155S	probably benign	Het
Hoxd13	A	G	2: 74,500,266 (GRCm39)	Y269C		Het
Iars1	T	A	13: 49,882,177 (GRCm39)	C1074S	probably benign	Het
Ibtk	G	T	9: 85,625,457 (GRCm39)	H98N	possibly damaging	Het
Igsf10	C	T	3: 59,233,739 (GRCm39)	G1665R	probably benign	Het
Inpp5d	A	G	1: 87,625,337 (GRCm39)		probably benign	Het
Ipo9	A	C	1: 135,321,951 (GRCm39)	V593G	probably damaging	Het
Irx3	T	C	8: 92,526,915 (GRCm39)	D263G	possibly damaging	Het
Kif13a	A	G	13: 46,927,154 (GRCm39)	V1179A	probably benign	Het
Lrrc4c	T	C	2: 97,460,393 (GRCm39)	Y340H	probably benign	Het
Lysmd1	A	G	3: 95,045,219 (GRCm39)	D155G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Mob2	A	T	7: 141,563,261 (GRCm39)	L66Q	probably damaging	Het
Myh1	A	G	11: 67,096,739 (GRCm39)	S337G	probably benign	Het
Neb	T	C	2: 52,096,259 (GRCm39)	D1002G	probably benign	Het
Nebl	A	T	2: 17,382,928 (GRCm39)	N116K	probably benign	Het
Nkx2-6	T	C	14: 69,412,623 (GRCm39)	S264P	probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nlrp4e	A	G	7: 23,020,556 (GRCm39)	T348A	possibly damaging	Het
Nomo1	A	T	7: 45,722,004 (GRCm39)	I982F	probably benign	Het
Or10j5	A	G	1: 172,784,186 (GRCm39)		probably benign	Het
Or11g24	T	G	14: 50,662,291 (GRCm39)	F105C	probably damaging	Het
Or1j19	A	T	2: 36,676,621 (GRCm39)	Y28F	probably benign	Het
Or8g22	A	G	9: 38,958,077 (GRCm39)	F213L	possibly damaging	Het
Palld	A	G	8: 62,003,198 (GRCm39)		probably null	Het
Pcdh7	A	G	5: 57,879,154 (GRCm39)	Y903C	probably damaging	Het
Pknox2	G	A	9: 36,804,167 (GRCm39)	T460M	possibly damaging	Het
Ppm1h	C	T	10: 122,714,451 (GRCm39)	T330I	probably damaging	Het
Ppp2r2b	C	T	18: 42,821,399 (GRCm39)	R253H	probably damaging	Het
Pramel58	G	T	5: 94,831,413 (GRCm39)	R140L	possibly damaging	Het
Prr18	G	A	17: 8,560,476 (GRCm39)	A211T	probably benign	Het
Ptgs2	A	G	1: 149,979,859 (GRCm39)	I321M		Het
Rara	G	T	11: 98,860,989 (GRCm39)	R159L	probably damaging	Het
Rasa4	T	A	5: 136,133,446 (GRCm39)	I635N	probably benign	Het
Scn4b	A	G	9: 45,059,169 (GRCm39)	I147V	possibly damaging	Het
Scrn3	G	A	2: 73,161,352 (GRCm39)	V313I	probably benign	Het
Scrn3	C	A	2: 73,161,355 (GRCm39)	P314T	possibly damaging	Het
Sh2b1	A	G	7: 126,070,292 (GRCm39)		probably null	Het
Slc26a10	T	C	10: 127,016,459 (GRCm39)	Q3R	probably benign	Het
Slitrk1	A	G	14: 109,149,139 (GRCm39)	I524T	probably damaging	Het
Smcp	T	A	3: 92,491,530 (GRCm39)	N106Y	unknown	Het
Spata31h1	T	C	10: 82,122,379 (GRCm39)	T3544A	probably benign	Het
St8sia5	G	A	18: 77,336,172 (GRCm39)	V202M	probably damaging	Het
Stxbp5l	A	T	16: 37,028,526 (GRCm39)	D512E	probably damaging	Het
Tas1r2	A	G	4: 139,397,046 (GRCm39)	E795G	probably damaging	Het
Tdrd1	T	A	19: 56,831,145 (GRCm39)	V320D	probably damaging	Het
Tmem71	T	A	15: 66,404,606 (GRCm39)	I261L	probably benign	Het
Tns2	T	C	15: 102,020,039 (GRCm39)	L643P	probably damaging	Het
Upf1	G	A	8: 70,786,815 (GRCm39)	Q890*	probably null	Het
Usp43	A	T	11: 67,782,307 (GRCm39)	H370Q	possibly damaging	Het
Vmn1r236	T	A	17: 21,507,356 (GRCm39)	I158N	possibly damaging	Het
Vmn2r98	T	A	17: 19,286,532 (GRCm39)	N343K	probably benign	Het
Vwa8	T	C	14: 79,329,815 (GRCm39)	S1216P	probably benign	Het
Yars1	A	C	4: 129,090,747 (GRCm39)	D97A	probably damaging	Het
Zer1	G	A	2: 30,001,035 (GRCm39)	H129Y	probably benign	Het
Zfat	C	T	15: 67,956,404 (GRCm39)	D1143N	possibly damaging	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
R7468:Rxfp2	UTSW	5	149,990,801 (GRCm39)	missense	possibly damaging	0.70
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
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'- CCATGTCCGAATCTGTATGCC -3'
(R):5'- GCTGTGTTTCATACTAAGAGCTTG -3'

Sequencing Primer
(F):5'- CGAATCTGTATGCCGTCGACTG -3'
(R):5'- TTGCCCACTGAAGCTAATTTG -3'

Posted On

2021-08-31