Mutagenetix > Incidental Mutation

Incidental Mutation 'R8443:Rxfp2'

654293

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

067825-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

149942140-150005649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 149973068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 181 (T181N)

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: T181N

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
AA Change: T181N

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

possibly damaging
Transcript: ENSMUST00000110496
AA Change: T181N

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
AA Change: T181N

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

probably benign
Transcript: ENSMUST00000201612
AA Change: T181N

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: T181N

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	C	T	7: 45,629,449 (GRCm39)	V1293M	probably damaging	Het
Agt	A	G	8: 125,290,537 (GRCm39)	W257R	possibly damaging	Het
Arhgef11	T	A	3: 87,620,406 (GRCm39)	N457K	probably benign	Het
Bcl3	G	T	7: 19,554,082 (GRCm39)	H95Q	probably benign	Het
C1d	T	A	11: 17,213,662 (GRCm39)	N64K	probably damaging	Het
Casc3	C	T	11: 98,713,607 (GRCm39)	R280C	probably damaging	Het
Cd300c2	C	T	11: 114,891,466 (GRCm39)	S136N	probably benign	Het
Cdh8	A	G	8: 99,757,672 (GRCm39)	V642A	possibly damaging	Het
Cep290	A	T	10: 100,331,706 (GRCm39)	I180F	possibly damaging	Het
Copz2	A	G	11: 96,744,887 (GRCm39)	E86G	probably damaging	Het
Cplane1	A	G	15: 8,230,635 (GRCm39)	I971V	probably benign	Het
Cracdl	A	G	1: 37,652,537 (GRCm39)	V1090A	probably benign	Het
Csf3r	A	T	4: 125,923,712 (GRCm39)	D74V	possibly damaging	Het
Cyp11b1	T	G	15: 74,710,789 (GRCm39)	E257A	possibly damaging	Het
Dlg2	A	G	7: 92,024,875 (GRCm39)	Q580R	probably damaging	Het
Dnai2	A	T	11: 114,645,275 (GRCm39)	K570M	unknown	Het
Dock8	A	G	19: 25,133,281 (GRCm39)	K1143E	probably benign	Het
Dxo	T	C	17: 35,058,099 (GRCm39)	S394P	probably benign	Het
Etl4	A	G	2: 20,810,977 (GRCm39)	D1388G	probably benign	Het
F13a1	C	A	13: 37,209,692 (GRCm39)	R91L	probably damaging	Het
Fam50b	C	T	13: 34,930,856 (GRCm39)	R111*	probably null	Het
Fat2	T	G	11: 55,202,535 (GRCm39)	N180H	probably damaging	Het
Fitm2	A	T	2: 163,311,768 (GRCm39)	H148Q	probably benign	Het
Fjx1	A	T	2: 102,281,156 (GRCm39)	S260T	possibly damaging	Het
Fos	T	C	12: 85,522,466 (GRCm39)	L165P	probably damaging	Het
Gm39115	C	A	7: 141,689,710 (GRCm39)	C21F	unknown	Het
Gucy1a1	C	T	3: 82,005,000 (GRCm39)	C595Y	probably damaging	Het
Hectd4	G	T	5: 121,467,172 (GRCm39)	W2478L	possibly damaging	Het
I830077J02Rik	T	A	3: 105,836,060 (GRCm39)	K9N	probably damaging	Het
Ift70a1	T	C	2: 75,811,519 (GRCm39)	D188G	probably benign	Het
Ireb2	T	C	9: 54,811,265 (GRCm39)	F723L	possibly damaging	Het
Itpr1	G	A	6: 108,496,309 (GRCm39)	V2580I	probably damaging	Het
Kcnu1	G	A	8: 26,382,092 (GRCm39)	G481R	probably damaging	Het
Kdm3b	G	T	18: 34,926,129 (GRCm39)	A90S	probably benign	Het
Klra8	A	G	6: 130,105,056 (GRCm39)	V23A	probably damaging	Het
Lig4	A	G	8: 10,023,777 (GRCm39)	M1T	probably null	Het
Lpin3	C	T	2: 160,737,273 (GRCm39)	P107S	probably damaging	Het
Lrp1b	T	A	2: 41,265,867 (GRCm39)	K1100*	probably null	Het
Obscn	G	A	11: 58,929,700 (GRCm39)	H5172Y	probably damaging	Het
Or10a3m	T	A	7: 108,313,418 (GRCm39)	M286K	possibly damaging	Het
Or4p20	A	G	2: 88,253,745 (GRCm39)	I208T	probably benign	Het
Or5ae1	C	T	7: 84,565,787 (GRCm39)	H267Y	probably benign	Het
Or6z1	T	A	7: 6,504,734 (GRCm39)	T170S	probably damaging	Het
Or8c14-ps1	A	T	9: 38,101,498 (GRCm39)	H159L	possibly damaging	Het
Orc3	A	G	4: 34,593,173 (GRCm39)	L298P	probably damaging	Het
Otub1	A	G	19: 7,177,360 (GRCm39)	F96L	probably damaging	Het
Pcnx3	A	G	19: 5,736,670 (GRCm39)	S156P	probably benign	Het
Pde3b	A	G	7: 114,126,129 (GRCm39)	M788V	probably damaging	Het
Pias4	A	G	10: 80,992,844 (GRCm39)		probably null	Het
Polg	A	G	7: 79,114,743 (GRCm39)	C73R	probably benign	Het
Ptbp2	T	C	3: 119,541,467 (GRCm39)	Y190C	probably damaging	Het
Rab33b	T	A	3: 51,401,050 (GRCm39)	F175I	probably damaging	Het
Rfx1	A	G	8: 84,806,515 (GRCm39)	T108A	probably benign	Het
Ribc2	A	G	15: 85,019,461 (GRCm39)	D81G	probably benign	Het
Rnf213	T	G	11: 119,340,149 (GRCm39)	M3460R		Het
Rsf1	T	A	7: 97,266,103 (GRCm39)	S86T		Het
Samm50	G	A	15: 84,094,702 (GRCm39)	E365K	possibly damaging	Het
Shld2	A	C	14: 33,989,942 (GRCm39)	N321K	probably benign	Het
Slc22a18	T	C	7: 143,051,123 (GRCm39)	V334A	probably damaging	Het
Slc23a3	A	T	1: 75,110,085 (GRCm39)	C97S	probably benign	Het
Smchd1	T	A	17: 71,714,244 (GRCm39)	H873L	probably benign	Het
Snrpa1	G	A	7: 65,720,381 (GRCm39)	G195R	probably benign	Het
Sphkap	T	A	1: 83,255,953 (GRCm39)	I599F	probably benign	Het
Stox1	A	G	10: 62,501,543 (GRCm39)	V339A	probably damaging	Het
Tlx1	A	G	19: 45,142,036 (GRCm39)	E220G	probably damaging	Het
Tmem71	C	A	15: 66,413,421 (GRCm39)		probably null	Het
Tmprss3	T	C	17: 31,413,976 (GRCm39)	D56G	possibly damaging	Het
Trabd	A	G	15: 88,970,107 (GRCm39)	R368G	probably benign	Het
Trf	A	G	9: 103,094,675 (GRCm39)	I461T	probably damaging	Het
Trpm3	A	G	19: 22,676,226 (GRCm39)	T133A	possibly damaging	Het
Trpv3	G	A	11: 73,186,209 (GRCm39)	V667I	possibly damaging	Het
Vps13b	T	A	15: 35,455,246 (GRCm39)	N718K	probably benign	Het
Zdbf2	T	C	1: 63,345,166 (GRCm39)	S1182P	possibly damaging	Het
Zfp13	T	C	17: 23,795,866 (GRCm39)	D235G	probably benign	Het
Zfp407	T	C	18: 84,227,987 (GRCm39)	E1874G	probably damaging	Het
Zfp503	T	C	14: 22,036,277 (GRCm39)	K213R	probably benign	Het
Zkscan2	A	G	7: 123,084,651 (GRCm39)	V491A	probably 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
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'- TCTGGGTGCTTCACAGTTGC -3'
(R):5'- ACGGCCAGGTTCCTGTTTTG -3'

Sequencing Primer
(F):5'- ACAGTTGCCCCCTCACC -3'
(R):5'- AGGTTCCTGTTTTGCCCAAC -3'

Posted On

2020-10-20