Mutagenetix > Incidental Mutation

Incidental Mutation 'R0499:Rxfp2'

47010

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

038695-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

149942140-150005649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 149989880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 420 (N420K)

Ref Sequence

ENSEMBL: ENSMUSP00000144536 (fasta)

Gene Model

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

AlphaFold

Q91ZZ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000065745
AA Change: N430K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
AA Change: N430K

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: N406K

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

SMART Domains

Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
AA Change: N406K

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: ENSMUST00000138901

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143989

Predicted Effect

probably damaging
Transcript: ENSMUST00000201612
AA Change: N420K

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

SMART Domains

Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: N420K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202037

Meta Mutation Damage Score

0.3877

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adap2	A	T	11: 80,066,905 (GRCm39)	R276S	probably damaging	Het
Agbl3	A	T	6: 34,816,270 (GRCm39)	M727L	probably benign	Het
Ahnak	T	A	19: 8,977,628 (GRCm39)		probably benign	Het
Ankmy1	G	T	1: 92,813,948 (GRCm39)	D410E	probably damaging	Het
Ankra2	T	C	13: 98,402,962 (GRCm39)	S70P	probably damaging	Het
Aox4	T	C	1: 58,302,556 (GRCm39)		probably null	Het
Arl13b	G	A	16: 62,622,096 (GRCm39)	T399I	probably benign	Het
Atad2	A	T	15: 57,966,636 (GRCm39)	D652E	possibly damaging	Het
Atad2	T	G	15: 57,984,345 (GRCm39)	M328L	probably benign	Het
Ccnb1	T	C	13: 100,916,642 (GRCm39)		probably null	Het
Ccr2	G	C	9: 123,905,976 (GRCm39)	K85N	possibly damaging	Het
Ccr2	A	T	9: 123,906,163 (GRCm39)	T148S	possibly damaging	Het
Cdc20b	T	C	13: 113,192,484 (GRCm39)	V59A	probably benign	Het
Cdin1	C	T	2: 115,473,172 (GRCm39)	R101W	probably damaging	Het
Cdkl3	T	C	11: 51,923,243 (GRCm39)	S507P	possibly damaging	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1g	A	G	8: 94,060,317 (GRCm39)	F101L	probably benign	Het
Cimap1d	T	C	10: 79,476,099 (GRCm39)	D155G	probably damaging	Het
Cntnap3	C	T	13: 65,006,492 (GRCm39)	D107N	probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Col27a1	A	G	4: 63,218,978 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Cstf3	A	G	2: 104,479,950 (GRCm39)	I272M	possibly damaging	Het
Cyp2d40	T	C	15: 82,645,418 (GRCm39)	T150A	probably benign	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Dop1b	A	T	16: 93,567,325 (GRCm39)	T1251S	probably benign	Het
Dtx2	G	A	5: 136,057,957 (GRCm39)	G421R	probably damaging	Het
Epb41l3	T	A	17: 69,554,654 (GRCm39)	D251E	probably benign	Het
Erg	A	C	16: 95,161,842 (GRCm39)	Y305*	probably null	Het
Exosc4	G	A	15: 76,213,766 (GRCm39)	A197T	probably benign	Het
Fam227b	T	A	2: 125,942,829 (GRCm39)	I323L	probably benign	Het
Far1	G	T	7: 113,153,503 (GRCm39)		probably benign	Het
Fmod	A	G	1: 133,968,934 (GRCm39)	I325V	possibly damaging	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm4076	G	T	13: 85,275,345 (GRCm39)		noncoding transcript	Het
Gm5134	A	T	10: 75,828,359 (GRCm39)	Y313F	probably benign	Het
H2-Q6	T	A	17: 35,644,179 (GRCm39)	F54I	probably damaging	Het
Hcrtr2	C	A	9: 76,161,954 (GRCm39)	L145F	probably damaging	Het
Hepacam2	A	G	6: 3,476,121 (GRCm39)	L268P	probably damaging	Het
Herc2	C	A	7: 55,834,117 (GRCm39)	C3107*	probably null	Het
Herc4	T	C	10: 63,099,811 (GRCm39)	V78A	probably damaging	Het
Hyal5	T	C	6: 24,877,920 (GRCm39)	W339R	probably damaging	Het
Igfbp6	T	A	15: 102,056,419 (GRCm39)		probably null	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Il1r2	T	A	1: 40,162,309 (GRCm39)	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097 (GRCm39)	V190L	probably benign	Het
Ipo11	T	C	13: 107,061,595 (GRCm39)	T22A	probably benign	Het
Itgb4	C	A	11: 115,870,521 (GRCm39)	R117S	probably benign	Het
Lcorl	C	G	5: 45,891,711 (GRCm39)	G214A	probably benign	Het
Lgals3bp	T	A	11: 118,289,019 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,791,298 (GRCm39)	L54I	probably damaging	Het
Mcm9	T	C	10: 53,414,250 (GRCm39)	T1015A	probably benign	Het
Mef2d	T	A	3: 88,063,825 (GRCm39)	I84N	probably damaging	Het
Mmrn2	A	G	14: 34,119,913 (GRCm39)	N261S	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Mstn	T	A	1: 53,103,143 (GRCm39)	Y160N	probably damaging	Het
Muc6	T	C	7: 141,226,735 (GRCm39)	T1431A	probably benign	Het
Nek9	A	T	12: 85,348,657 (GRCm39)	M959K	probably benign	Het
Or2ak6	G	A	11: 58,593,069 (GRCm39)	V181I	probably benign	Het
Or4f58	A	T	2: 111,851,777 (GRCm39)	C141S	probably damaging	Het
Or8b47	A	T	9: 38,435,801 (GRCm39)	M258L	probably benign	Het
Otog	G	T	7: 45,923,256 (GRCm39)	G1044W	probably damaging	Het
Pcdh9	G	A	14: 94,123,671 (GRCm39)	T833M	probably damaging	Het
Pdcd10	T	C	3: 75,434,958 (GRCm39)	K111R	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Plekhg1	T	C	10: 3,887,971 (GRCm39)	V355A	probably damaging	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Psd	T	C	19: 46,310,600 (GRCm39)	E483G	probably damaging	Het
Ptch2	T	A	4: 116,968,340 (GRCm39)	L905*	probably null	Het
Scpppq1	C	A	5: 104,222,747 (GRCm39)	G24*	probably null	Het
Sde2	T	A	1: 180,689,992 (GRCm39)	D237E	probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Shc3	C	T	13: 51,634,264 (GRCm39)		probably benign	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Slc23a2	A	G	2: 131,913,937 (GRCm39)	L280P	probably damaging	Het
Smchd1	G	T	17: 71,694,083 (GRCm39)	Q1221K	probably benign	Het
Spmip2	T	A	3: 79,313,093 (GRCm39)	W56R	probably damaging	Het
Spocd1	A	G	4: 129,849,263 (GRCm39)	N694S	possibly damaging	Het
Styxl2	C	A	1: 165,926,670 (GRCm39)	V981L	probably benign	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tmem131	A	T	1: 36,880,754 (GRCm39)	V172D	probably damaging	Het
Trpm3	T	C	19: 22,964,237 (GRCm39)	M1244T	possibly damaging	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Usp17le	T	C	7: 104,417,708 (GRCm39)	N478S	probably benign	Het
Usp36	A	G	11: 118,164,397 (GRCm39)	V205A	probably damaging	Het
Vmn1r25	T	A	6: 57,955,494 (GRCm39)	Q265L	probably damaging	Het
Vwf	A	T	6: 125,615,077 (GRCm39)	H1176L	probably benign	Het
Zfyve28	C	T	5: 34,389,550 (GRCm39)	D217N	possibly damaging	Het
Zranb3	A	C	1: 127,882,817 (GRCm39)		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
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
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'- CATGTCCGAATCTGTATGCCGTCG -3'
(R):5'- ACGTGATTCCCAGGGCTGTGTTTC -3'

Sequencing Primer
(F):5'- CGACTGATGGTATTTCTTCGTCTG -3'
(R):5'- CCAGGGCTGTGTTTCATACTAAG -3'

Posted On

2013-06-12