Mutagenetix > Incidental Mutation

Incidental Mutation 'R1720:Rxfp2'

191370

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

039752-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

149942140-150005649 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 149966564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 101 (R101*)

Ref Sequence

ENSEMBL: ENSMUSP00000144536 (fasta)

Gene Model

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

AlphaFold

Q91ZZ5

Predicted Effect

probably null
Transcript: ENSMUST00000065745
AA Change: R101*

SMART Domains

Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
AA Change: R101*

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 null
Transcript: ENSMUST00000110496
AA Change: R101*

SMART Domains

Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
AA Change: R101*

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

noncoding transcript
Transcript: ENSMUST00000143989

Predicted Effect

probably null
Transcript: ENSMUST00000201612
AA Change: R101*

SMART Domains

Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: R101*

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: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.8%

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 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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	G	12: 84,122,655 (GRCm39)	D413G	probably benign	Het
Actr5	G	T	2: 158,478,057 (GRCm39)	V476F	possibly damaging	Het
Adhfe1	G	A	1: 9,637,125 (GRCm39)	D426N	probably benign	Het
Adra1a	T	C	14: 66,875,727 (GRCm39)	L234P	probably damaging	Het
Akap9	G	T	5: 4,022,791 (GRCm39)	V1207L	possibly damaging	Het
Anapc2	A	G	2: 25,164,724 (GRCm39)	D36G	probably benign	Het
Apol8	A	G	15: 77,633,566 (GRCm39)	S337P	possibly damaging	Het
Asxl3	A	T	18: 22,585,492 (GRCm39)	D139V	probably damaging	Het
Atp13a4	A	T	16: 29,227,746 (GRCm39)	V1037E	probably damaging	Het
Baat	A	T	4: 49,490,231 (GRCm39)	F284L	probably benign	Het
Bltp3b	T	C	10: 89,618,448 (GRCm39)	V141A	probably damaging	Het
C1qtnf6	A	T	15: 78,411,640 (GRCm39)	F40Y	probably damaging	Het
Caskin2	G	A	11: 115,693,608 (GRCm39)	H508Y	probably damaging	Het
Cass4	A	T	2: 172,269,654 (GRCm39)	I579F	probably damaging	Het
Cdk15	A	G	1: 59,328,917 (GRCm39)	Y277C	probably damaging	Het
Cit	G	A	5: 116,105,956 (GRCm39)	D947N	probably damaging	Het
Clint1	T	A	11: 45,778,237 (GRCm39)	I126K	probably damaging	Het
Col6a4	C	T	9: 105,903,671 (GRCm39)	G1640E	probably damaging	Het
Ddx10	T	C	9: 53,149,371 (GRCm39)	K119E	probably damaging	Het
Dennd1a	G	A	2: 37,690,209 (GRCm39)	Q964*	probably null	Het
Dnhd1	T	C	7: 105,343,035 (GRCm39)	F1460L	probably benign	Het
Edc3	T	C	9: 57,655,462 (GRCm39)		probably null	Het
Edn1	A	G	13: 42,458,826 (GRCm39)	E163G	probably benign	Het
Efl1	A	T	7: 82,332,929 (GRCm39)	D317V	possibly damaging	Het
Elapor2	T	G	5: 9,478,407 (GRCm39)	C424G	probably damaging	Het
F2	A	T	2: 91,459,175 (GRCm39)	Y430*	probably null	Het
Faap100	C	T	11: 120,265,407 (GRCm39)	V490M	probably damaging	Het
Fuz	G	T	7: 44,546,415 (GRCm39)	G104W	probably damaging	Het
Greb1l	C	A	18: 10,553,848 (GRCm39)	H1616Q	probably benign	Het
Grm1	G	T	10: 10,622,538 (GRCm39)		probably null	Het
Gucy2d	G	T	7: 98,126,437 (GRCm39)	A1098S	probably benign	Het
H1f0	T	A	15: 78,913,195 (GRCm39)	S92T	possibly damaging	Het
Hbb-bt	T	A	7: 103,463,083 (GRCm39)		probably benign	Het
Heg1	G	A	16: 33,527,549 (GRCm39)	A170T	probably benign	Het
Hspa4l	A	T	3: 40,736,049 (GRCm39)	K578*	probably null	Het
Ikbke	A	G	1: 131,186,947 (GRCm39)	S582P	possibly damaging	Het
Itga6	T	A	2: 71,650,510 (GRCm39)	F185L	probably damaging	Het
Itgal	T	A	7: 126,906,099 (GRCm39)	D396E	probably benign	Het
Kif5b	T	C	18: 6,213,427 (GRCm39)	H687R	probably benign	Het
Kmt2c	T	C	5: 25,504,182 (GRCm39)	N3709D	probably benign	Het
Lipf	A	T	19: 33,943,066 (GRCm39)	K125*	probably null	Het
Lrif1	A	T	3: 106,640,452 (GRCm39)	E512D	probably damaging	Het
Matn2	T	A	15: 34,345,420 (GRCm39)	Y142*	probably null	Het
Med13l	A	G	5: 118,880,060 (GRCm39)	T1051A	probably damaging	Het
Mpp3	T	A	11: 101,916,582 (GRCm39)	M1L	possibly damaging	Het
Mro	C	T	18: 74,009,806 (GRCm39)	S159L	probably benign	Het
Myh15	T	A	16: 48,913,145 (GRCm39)	D367E	probably damaging	Het
Myo1g	T	C	11: 6,462,490 (GRCm39)	Q547R	probably benign	Het
Neb	T	C	2: 52,097,733 (GRCm39)	I902M	probably benign	Het
Nsd1	G	A	13: 55,394,711 (GRCm39)	D771N	probably damaging	Het
Or10x4	A	G	1: 174,219,486 (GRCm39)	I284V	probably benign	Het
Or14a256	T	C	7: 86,265,664 (GRCm39)	N63S	probably damaging	Het
Or2a20	T	C	6: 43,194,494 (GRCm39)	S216P	probably damaging	Het
Or4e5	A	C	14: 52,728,051 (GRCm39)	Y40*	probably null	Het
Or8b48	C	T	9: 38,492,585 (GRCm39)	T4I	probably benign	Het
Penk	A	G	4: 4,134,240 (GRCm39)	Y136H	probably damaging	Het
Prdm6	C	T	18: 53,673,272 (GRCm39)	S144L	probably benign	Het
Ptprq	T	A	10: 107,522,155 (GRCm39)	I599F	probably damaging	Het
Racgap1	A	T	15: 99,526,650 (GRCm39)	C304*	probably null	Het
Rbp3	T	C	14: 33,678,866 (GRCm39)	V938A	probably benign	Het
Rpp30	A	G	19: 36,071,827 (GRCm39)	K132E	probably damaging	Het
Ryr1	A	T	7: 28,801,295 (GRCm39)	V823E	probably damaging	Het
S100pbp	A	T	4: 129,075,886 (GRCm39)	D146E	probably damaging	Het
Sdr9c7	T	A	10: 127,738,127 (GRCm39)	V135E	probably damaging	Het
Serpinb12	A	G	1: 106,874,344 (GRCm39)	D23G	probably damaging	Het
Serpinf1	T	A	11: 75,304,807 (GRCm39)	T185S	probably null	Het
Slc23a1	A	C	18: 35,758,904 (GRCm39)	C96G	possibly damaging	Het
Slc5a4a	C	T	10: 76,025,103 (GRCm39)		probably null	Het
Spmap1	A	G	11: 97,662,435 (GRCm39)	F146L	probably damaging	Het
Suco	A	T	1: 161,661,623 (GRCm39)	L936Q	probably damaging	Het
Tmem144	T	C	3: 79,732,606 (GRCm39)	Y224C	probably damaging	Het
Tpm4	T	A	8: 72,898,598 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,560,414 (GRCm39)	E29329G	probably damaging	Het
Txn1	T	C	4: 57,943,922 (GRCm39)	I101V	probably benign	Het
Ube2o	A	T	11: 116,435,433 (GRCm39)	C452S	probably benign	Het
Uxs1	A	T	1: 43,804,081 (GRCm39)	I278N	probably damaging	Het
Vps54	T	C	11: 21,256,519 (GRCm39)	F663L	probably damaging	Het
Wdfy3	CG	C	5: 102,074,391 (GRCm39)		probably null	Het
Zc3h11a	A	G	1: 133,549,439 (GRCm39)	S741P	probably damaging	Het
Zdbf2	G	A	1: 63,342,436 (GRCm39)	V272I	possibly damaging	Het
Zdhhc24	A	G	19: 4,928,979 (GRCm39)	N68S	probably damaging	Het
Znfx1	A	T	2: 166,885,986 (GRCm39)	L858*	probably null	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
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
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'- GAGCAGGAGACGAGTGTTCTATGTG -3'
(R):5'- GCCTATCAACTTTACTGGTGCCTGG -3'

Sequencing Primer
(F):5'- TGAGATGAACACATCACTGGTC -3'
(R):5'- gctcacaaccatccgtaactc -3'

Posted On

2014-05-14