Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02475:Rxfp2'

294897

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rxfp2

Ensembl Gene

ENSMUSG00000053368

Gene Name

relaxin/insulin-like family peptide receptor 2

Synonyms

Gpr106, Great, LGR8

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02475

Quality Score

Status

Chromosome

Chromosomal Location

150018675-150082184 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150063686 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 344 (E344G)

Ref Sequence

ENSEMBL: ENSMUSP00000067897 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000065745
AA Change: E344G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
AA Change: E344G

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 benign
Transcript: ENSMUST00000110496
AA Change: E320G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
AA Change: E320G

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 benign
Transcript: ENSMUST00000201612
AA Change: E334G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: E334G

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

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,533		probably benign	Het
5730409E04Rik	A	G	4: 126,611,949	E90G	probably damaging	Het
Abhd6	T	A	14: 8,039,849	I27N	probably damaging	Het
Akap6	A	T	12: 53,139,494	E1230D	probably benign	Het
Bcl2l12	A	G	7: 44,996,893	V31A	possibly damaging	Het
Cep350	G	A	1: 155,862,595	R2501W	probably damaging	Het
Cnga3	A	G	1: 37,257,991		probably null	Het
Crcp	T	C	5: 130,059,858		probably benign	Het
Creb5	G	A	6: 53,693,924	S304N	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnah5	A	G	15: 28,219,150	D38G	probably benign	Het
Fam171a1	A	G	2: 3,223,490	I293V	possibly damaging	Het
Fbxw10	T	C	11: 62,857,735	V396A	possibly damaging	Het
Gm10340	G	A	14: 3,140,482		probably benign	Het
Gm20390	A	G	11: 93,955,574	V16A	probably damaging	Het
Grik3	A	G	4: 125,650,517	T344A	probably benign	Het
Itga7	T	C	10: 128,934,089	F34S	probably damaging	Het
Musk	T	C	4: 58,353,936		probably benign	Het
Neb	G	T	2: 52,292,819	N1038K	probably damaging	Het
Nf1	T	C	11: 79,535,667	Y1636H	probably damaging	Het
Ngef	G	T	1: 87,479,150	T632K	possibly damaging	Het
Nts	A	G	10: 102,490,247		probably benign	Het
Olfml2b	A	G	1: 170,682,174	D697G	probably damaging	Het
Olfr1031	T	C	2: 85,992,032	F72L	probably benign	Het
Olfr1502	T	A	19: 13,862,299	C169S	probably damaging	Het
Olfr205	A	T	16: 59,328,725	H261Q	probably benign	Het
Otof	T	C	5: 30,376,682	R1428G	probably damaging	Het
Pgghg	T	C	7: 140,945,720	S479P		Het
Rnaseh2b	T	A	14: 62,346,615	F37I	probably damaging	Het
Rtn4	T	A	11: 29,733,801	I1031N	probably damaging	Het
Scel	A	G	14: 103,537,008	R89G	possibly damaging	Het
Sirt4	T	C	5: 115,482,996	E39G	probably benign	Het
Slc6a12	T	A	6: 121,354,375		probably null	Het
Snapc3	C	A	4: 83,450,096	H277N	probably benign	Het
Susd2	A	G	10: 75,637,499		probably null	Het
Tagap1	T	C	17: 6,956,427	Q290R	probably benign	Het
Tenm3	A	T	8: 48,279,198		probably benign	Het
Tmem54	A	T	4: 129,108,280	H40L	probably damaging	Het
Tnks1bp1	T	C	2: 85,059,377	S683P	probably damaging	Het
Tnpo2	A	G	8: 85,050,502	D547G	probably benign	Het
Tpd52l2	G	A	2: 181,499,874	V17M	probably benign	Het
Trip11	T	A	12: 101,895,683	T208S	probably benign	Het
Ttc17	C	A	2: 94,364,376	D551Y	probably damaging	Het
Ttll12	A	T	15: 83,587,101	W222R	probably damaging	Het
Xkr8	A	T	4: 132,728,201	I287N	probably damaging	Het
Zdhhc2	G	T	8: 40,473,025	G354C	probably null	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	Het

Other mutations in Rxfp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Rxfp2	APN	5	150066428	missense	probably benign
IGL00984:Rxfp2	APN	5	150067132	missense	probably benign	0.24
IGL02637:Rxfp2	APN	5	150055913	missense	probably damaging	0.99
IGL02992:Rxfp2	APN	5	150051556	missense	probably benign	0.01
IGL03052:Rxfp2	APN	5	150043180	splice site	probably benign
IGL03203:Rxfp2	APN	5	150063680	missense	probably benign	0.08
R0158:Rxfp2	UTSW	5	150051628	missense	probably benign	0.14
R0394:Rxfp2	UTSW	5	150067388	missense	probably benign	0.03
R0499:Rxfp2	UTSW	5	150066415	missense	probably damaging	1.00
R0576:Rxfp2	UTSW	5	150038247	missense	probably benign	0.01
R0720:Rxfp2	UTSW	5	150044119	missense	probably benign	0.04
R1172:Rxfp2	UTSW	5	150051556	missense	probably benign	0.01
R1173:Rxfp2	UTSW	5	150051556	missense	probably benign	0.01
R1174:Rxfp2	UTSW	5	150051556	missense	probably benign	0.01
R1175:Rxfp2	UTSW	5	150051556	missense	probably benign	0.01
R1606:Rxfp2	UTSW	5	150059897	missense	probably benign
R1720:Rxfp2	UTSW	5	150043099	nonsense	probably null
R2040:Rxfp2	UTSW	5	150070212	missense	probably benign
R3029:Rxfp2	UTSW	5	150043130	missense	probably benign	0.05
R3905:Rxfp2	UTSW	5	150055985	splice site	probably null
R4056:Rxfp2	UTSW	5	150051633	critical splice donor site	probably null
R4156:Rxfp2	UTSW	5	150051555	missense	probably benign	0.01
R4282:Rxfp2	UTSW	5	150070270	missense	possibly damaging	0.94
R4418:Rxfp2	UTSW	5	150048800	missense	probably benign
R4935:Rxfp2	UTSW	5	150051632	critical splice donor site	probably null
R5010:Rxfp2	UTSW	5	150067360	missense	probably damaging	1.00
R5286:Rxfp2	UTSW	5	150035444	missense	probably damaging	1.00
R5373:Rxfp2	UTSW	5	150070260	missense	probably benign	0.21
R5374:Rxfp2	UTSW	5	150070260	missense	probably benign	0.21
R5530:Rxfp2	UTSW	5	150056810	missense	probably damaging	1.00
R5844:Rxfp2	UTSW	5	150043124	missense	probably benign	0.00
R6021:Rxfp2	UTSW	5	150063737	missense	possibly damaging	0.46
R6211:Rxfp2	UTSW	5	150044126	splice site	probably null
R6401:Rxfp2	UTSW	5	150043130	missense	probably benign
R6841:Rxfp2	UTSW	5	150018745	start gained	probably benign
R6981:Rxfp2	UTSW	5	150048848	splice site	probably null
R7012:Rxfp2	UTSW	5	150081194	missense	probably benign	0.00
R7032:Rxfp2	UTSW	5	150070348	missense	probably damaging	1.00
R7151:Rxfp2	UTSW	5	150043107	missense	probably benign	0.01
R7205:Rxfp2	UTSW	5	150059899	missense	probably benign	0.05
R7205:Rxfp2	UTSW	5	150059903	missense	probably benign	0.00
R7209:Rxfp2	UTSW	5	150053098	splice site	probably null
R7468:Rxfp2	UTSW	5	150067336	missense	possibly damaging	0.70
R7475:Rxfp2	UTSW	5	150049581	missense	possibly damaging	0.94
R8181:Rxfp2	UTSW	5	150063736	missense	probably benign	0.22
R8258:Rxfp2	UTSW	5	150059900	missense	probably damaging	0.97
R8259:Rxfp2	UTSW	5	150059900	missense	probably damaging	0.97
R8443:Rxfp2	UTSW	5	150049603	missense	possibly damaging	0.45
X0067:Rxfp2	UTSW	5	150051618	missense	probably damaging	1.00
Z1177:Rxfp2	UTSW	5	150048810	missense	probably benign	0.00

Posted On

2015-04-16