Incidental Mutation 'R0257:Rxfp1'
ID |
34772 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rxfp1
|
Ensembl Gene |
ENSMUSG00000034009 |
Gene Name |
relaxin/insulin-like family peptide receptor 1 |
Synonyms |
LOC381489, Lgr7 |
MMRRC Submission |
038488-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
R0257 (G1)
|
Quality Score |
131 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
79548918-79645187 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 79589842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 100
(V100M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077611
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078527]
[ENSMUST00000182491]
|
AlphaFold |
Q6R6I7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078527
AA Change: V100M
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000077611 Gene: ENSMUSG00000034009 AA Change: V100M
Domain | Start | End | E-Value | Type |
LDLa
|
26 |
64 |
1.61e-8 |
SMART |
LRRNT
|
101 |
130 |
9.51e-1 |
SMART |
LRR
|
126 |
148 |
3.65e1 |
SMART |
LRR
|
149 |
172 |
1.19e1 |
SMART |
LRR_TYP
|
173 |
196 |
4.61e-5 |
SMART |
LRR
|
197 |
220 |
1.86e0 |
SMART |
LRR
|
221 |
244 |
1.86e2 |
SMART |
LRR
|
246 |
269 |
2.03e1 |
SMART |
LRR
|
270 |
293 |
1.76e2 |
SMART |
LRR_TYP
|
294 |
317 |
4.24e-4 |
SMART |
LRR
|
318 |
341 |
1.15e1 |
SMART |
LRR
|
342 |
365 |
3.65e1 |
SMART |
Pfam:7tm_1
|
422 |
681 |
2.8e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182491
|
SMART Domains |
Protein: ENSMUSP00000138578 Gene: ENSMUSG00000034009
Domain | Start | End | E-Value | Type |
LDLa
|
26 |
64 |
1.61e-8 |
SMART |
|
Meta Mutation Damage Score |
0.1950 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.5%
- 10x: 95.7%
- 20x: 92.2%
|
Validation Efficiency |
99% (67/68) |
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 leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane receptor superfamily. The encoded protein plays a critical role in sperm motility, pregnancy and parturition as a receptor for the protein hormone relaxin. Decreased expression of this gene may play a role in endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] PHENOTYPE: Mice homozygous for disruptions in this gene display reduced male fertility, particularly at younger ages and early generations. Impaired nipple development prevents nursing by females. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
T |
A |
11: 84,401,107 (GRCm39) |
E171D |
probably benign |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Adgre5 |
T |
A |
8: 84,458,624 (GRCm39) |
H134L |
possibly damaging |
Het |
Ahsg |
A |
T |
16: 22,717,790 (GRCm39) |
M256L |
probably benign |
Het |
Alk |
A |
T |
17: 72,910,490 (GRCm39) |
L72Q |
probably damaging |
Het |
Ano2 |
C |
A |
6: 125,857,676 (GRCm39) |
A505E |
probably benign |
Het |
Bcas3 |
A |
G |
11: 85,712,865 (GRCm39) |
K908E |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,746 (GRCm39) |
V157A |
probably benign |
Het |
Car2 |
C |
G |
3: 14,965,037 (GRCm39) |
H224D |
probably benign |
Het |
Cfh |
T |
C |
1: 140,071,773 (GRCm39) |
D287G |
probably benign |
Het |
Disp3 |
G |
T |
4: 148,335,211 (GRCm39) |
N944K |
possibly damaging |
Het |
Dlg1 |
A |
G |
16: 31,661,671 (GRCm39) |
|
probably benign |
Het |
Dmbt1 |
A |
G |
7: 130,708,123 (GRCm39) |
E1281G |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,088,870 (GRCm39) |
|
probably benign |
Het |
Dtx3 |
T |
C |
10: 127,028,761 (GRCm39) |
D159G |
probably benign |
Het |
Ets2 |
T |
A |
16: 95,513,245 (GRCm39) |
C140* |
probably null |
Het |
Fbf1 |
T |
C |
11: 116,045,917 (GRCm39) |
I226V |
probably benign |
Het |
Fgd6 |
T |
A |
10: 93,879,777 (GRCm39) |
H210Q |
probably benign |
Het |
Fktn |
A |
G |
4: 53,734,898 (GRCm39) |
T179A |
probably benign |
Het |
Galnt10 |
T |
C |
11: 57,671,904 (GRCm39) |
M398T |
probably damaging |
Het |
Grk5 |
G |
T |
19: 61,065,068 (GRCm39) |
|
probably benign |
Het |
Gse1 |
A |
G |
8: 121,299,073 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,259,176 (GRCm39) |
|
probably benign |
Het |
Iqgap2 |
A |
G |
13: 95,861,052 (GRCm39) |
|
probably null |
Het |
Lama4 |
T |
C |
10: 38,970,880 (GRCm39) |
|
probably benign |
Het |
Luzp2 |
A |
G |
7: 54,899,194 (GRCm39) |
T271A |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,693,534 (GRCm39) |
V1053D |
probably damaging |
Het |
Mrm1 |
A |
C |
11: 84,705,649 (GRCm39) |
|
probably benign |
Het |
Msh5 |
G |
C |
17: 35,251,840 (GRCm39) |
R407G |
probably damaging |
Het |
Myo1c |
A |
T |
11: 75,556,342 (GRCm39) |
|
probably null |
Het |
Nek5 |
T |
C |
8: 22,613,688 (GRCm39) |
|
probably benign |
Het |
Nrxn2 |
A |
G |
19: 6,540,728 (GRCm39) |
I894V |
possibly damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Pde4a |
C |
T |
9: 21,103,717 (GRCm39) |
P175L |
probably damaging |
Het |
Pip5k1c |
C |
A |
10: 81,150,930 (GRCm39) |
A628E |
possibly damaging |
Het |
Piwil2 |
C |
T |
14: 70,660,080 (GRCm39) |
S139N |
probably benign |
Het |
Prob1 |
T |
C |
18: 35,786,092 (GRCm39) |
K721E |
possibly damaging |
Het |
Rps6ka2 |
C |
A |
17: 7,495,382 (GRCm39) |
S57Y |
probably damaging |
Het |
Serpinb9e |
A |
T |
13: 33,441,664 (GRCm39) |
M199L |
probably benign |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slc4a8 |
G |
A |
15: 100,682,761 (GRCm39) |
|
probably benign |
Het |
Sned1 |
A |
T |
1: 93,192,819 (GRCm39) |
S369C |
possibly damaging |
Het |
St18 |
T |
A |
1: 6,890,186 (GRCm39) |
F539L |
probably benign |
Het |
Stam2 |
C |
T |
2: 52,584,794 (GRCm39) |
G500D |
possibly damaging |
Het |
Stx16 |
G |
A |
2: 173,938,754 (GRCm39) |
V307M |
probably benign |
Het |
Svep1 |
G |
A |
4: 58,179,610 (GRCm39) |
S211L |
possibly damaging |
Het |
Tcf12 |
C |
T |
9: 71,765,904 (GRCm39) |
S512N |
probably benign |
Het |
Tiam2 |
T |
C |
17: 3,501,088 (GRCm39) |
V909A |
possibly damaging |
Het |
Tmem64 |
C |
T |
4: 15,266,343 (GRCm39) |
A131V |
probably damaging |
Het |
Tnrc6b |
C |
A |
15: 80,778,556 (GRCm39) |
N1176K |
possibly damaging |
Het |
Trrap |
C |
T |
5: 144,741,045 (GRCm39) |
S1264L |
probably benign |
Het |
Ttn |
T |
A |
2: 76,640,775 (GRCm39) |
T13658S |
possibly damaging |
Het |
Vmn2r104 |
G |
A |
17: 20,249,889 (GRCm39) |
T794I |
probably damaging |
Het |
Vmn2r52 |
T |
A |
7: 9,904,982 (GRCm39) |
R286* |
probably null |
Het |
Vps53 |
A |
T |
11: 76,068,211 (GRCm39) |
|
probably benign |
Het |
Wdr18 |
A |
G |
10: 79,796,953 (GRCm39) |
|
probably benign |
Het |
Wdr31 |
A |
G |
4: 62,378,755 (GRCm39) |
|
probably null |
Het |
Zfp458 |
T |
A |
13: 67,407,706 (GRCm39) |
K47* |
probably null |
Het |
Zfp983 |
A |
G |
17: 21,880,356 (GRCm39) |
T95A |
probably benign |
Het |
|
Other mutations in Rxfp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01758:Rxfp1
|
APN |
3 |
79,559,523 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01962:Rxfp1
|
APN |
3 |
79,594,175 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01975:Rxfp1
|
APN |
3 |
79,567,385 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01998:Rxfp1
|
APN |
3 |
79,567,403 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02049:Rxfp1
|
APN |
3 |
79,557,799 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02153:Rxfp1
|
APN |
3 |
79,567,427 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02490:Rxfp1
|
APN |
3 |
79,559,474 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02526:Rxfp1
|
APN |
3 |
79,578,153 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02985:Rxfp1
|
APN |
3 |
79,559,533 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL03252:Rxfp1
|
APN |
3 |
79,574,990 (GRCm39) |
missense |
probably benign |
0.29 |
juggler
|
UTSW |
3 |
79,557,898 (GRCm39) |
nonsense |
probably null |
|
R0123:Rxfp1
|
UTSW |
3 |
79,564,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R0134:Rxfp1
|
UTSW |
3 |
79,564,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R0230:Rxfp1
|
UTSW |
3 |
79,552,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R0265:Rxfp1
|
UTSW |
3 |
79,574,961 (GRCm39) |
missense |
probably benign |
0.00 |
R0362:Rxfp1
|
UTSW |
3 |
79,645,100 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R0394:Rxfp1
|
UTSW |
3 |
79,559,684 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0422:Rxfp1
|
UTSW |
3 |
79,558,038 (GRCm39) |
missense |
probably benign |
0.00 |
R0547:Rxfp1
|
UTSW |
3 |
79,612,876 (GRCm39) |
splice site |
probably null |
|
R0627:Rxfp1
|
UTSW |
3 |
79,555,518 (GRCm39) |
missense |
probably benign |
0.00 |
R0671:Rxfp1
|
UTSW |
3 |
79,570,600 (GRCm39) |
splice site |
probably null |
|
R1309:Rxfp1
|
UTSW |
3 |
79,570,599 (GRCm39) |
splice site |
probably null |
|
R1756:Rxfp1
|
UTSW |
3 |
79,578,188 (GRCm39) |
missense |
probably benign |
0.11 |
R1803:Rxfp1
|
UTSW |
3 |
79,645,076 (GRCm39) |
missense |
probably benign |
|
R2415:Rxfp1
|
UTSW |
3 |
79,570,626 (GRCm39) |
missense |
probably benign |
0.14 |
R2862:Rxfp1
|
UTSW |
3 |
79,589,778 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4087:Rxfp1
|
UTSW |
3 |
79,552,256 (GRCm39) |
missense |
probably damaging |
0.99 |
R4091:Rxfp1
|
UTSW |
3 |
79,552,068 (GRCm39) |
missense |
probably benign |
|
R4250:Rxfp1
|
UTSW |
3 |
79,559,579 (GRCm39) |
missense |
probably benign |
0.41 |
R4335:Rxfp1
|
UTSW |
3 |
79,594,105 (GRCm39) |
critical splice donor site |
probably null |
|
R4447:Rxfp1
|
UTSW |
3 |
79,559,434 (GRCm39) |
intron |
probably benign |
|
R4607:Rxfp1
|
UTSW |
3 |
79,594,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R4608:Rxfp1
|
UTSW |
3 |
79,594,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R4676:Rxfp1
|
UTSW |
3 |
79,612,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R4768:Rxfp1
|
UTSW |
3 |
79,594,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R4812:Rxfp1
|
UTSW |
3 |
79,557,889 (GRCm39) |
missense |
probably benign |
0.00 |
R4909:Rxfp1
|
UTSW |
3 |
79,552,109 (GRCm39) |
missense |
probably benign |
|
R5059:Rxfp1
|
UTSW |
3 |
79,570,619 (GRCm39) |
missense |
probably benign |
|
R5131:Rxfp1
|
UTSW |
3 |
79,559,471 (GRCm39) |
splice site |
probably null |
|
R5641:Rxfp1
|
UTSW |
3 |
79,594,199 (GRCm39) |
missense |
probably damaging |
0.98 |
R5711:Rxfp1
|
UTSW |
3 |
79,586,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R5757:Rxfp1
|
UTSW |
3 |
79,568,627 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5856:Rxfp1
|
UTSW |
3 |
79,570,620 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6296:Rxfp1
|
UTSW |
3 |
79,575,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6462:Rxfp1
|
UTSW |
3 |
79,555,596 (GRCm39) |
missense |
probably benign |
0.07 |
R6730:Rxfp1
|
UTSW |
3 |
79,557,898 (GRCm39) |
nonsense |
probably null |
|
R7059:Rxfp1
|
UTSW |
3 |
79,559,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R7530:Rxfp1
|
UTSW |
3 |
79,557,768 (GRCm39) |
missense |
probably benign |
0.18 |
R7626:Rxfp1
|
UTSW |
3 |
79,555,397 (GRCm39) |
missense |
probably damaging |
0.99 |
R7684:Rxfp1
|
UTSW |
3 |
79,578,214 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7951:Rxfp1
|
UTSW |
3 |
79,559,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R8723:Rxfp1
|
UTSW |
3 |
79,557,802 (GRCm39) |
missense |
probably benign |
|
R8786:Rxfp1
|
UTSW |
3 |
79,570,677 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8887:Rxfp1
|
UTSW |
3 |
79,559,289 (GRCm39) |
intron |
probably benign |
|
R8939:Rxfp1
|
UTSW |
3 |
79,552,231 (GRCm39) |
missense |
probably damaging |
0.99 |
R9245:Rxfp1
|
UTSW |
3 |
79,552,261 (GRCm39) |
missense |
probably benign |
0.12 |
R9574:Rxfp1
|
UTSW |
3 |
79,563,581 (GRCm39) |
missense |
probably benign |
0.01 |
R9579:Rxfp1
|
UTSW |
3 |
79,557,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R9799:Rxfp1
|
UTSW |
3 |
79,578,182 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Rxfp1
|
UTSW |
3 |
79,613,011 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Rxfp1
|
UTSW |
3 |
79,559,674 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACGCATTCTTAGTGATGACCCAGG -3'
(R):5'- CCCACCCATACGTTAGTCAGCATTC -3'
Sequencing Primer
(F):5'- GACGAGCCAATCTTTGCTAC -3'
(R):5'- ggactcacagacacacacac -3'
|
Posted On |
2013-05-09 |