Incidental Mutation 'R5641:Rxfp1'
ID |
440657 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rxfp1
|
Ensembl Gene |
ENSMUSG00000034009 |
Gene Name |
relaxin/insulin-like family peptide receptor 1 |
Synonyms |
LOC381489, Lgr7 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R5641 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
79548918-79645187 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79594199 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 65
(N65S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138578
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078527]
[ENSMUST00000182491]
|
AlphaFold |
Q6R6I7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078527
AA Change: N65S
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000077611 Gene: ENSMUSG00000034009 AA Change: N65S
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 damaging
Transcript: ENSMUST00000182491
AA Change: N65S
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138578 Gene: ENSMUSG00000034009 AA Change: N65S
Domain | Start | End | E-Value | Type |
LDLa
|
26 |
64 |
1.61e-8 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
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 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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
A |
T |
16: 14,289,877 (GRCm39) |
M1398L |
probably benign |
Het |
Acad12 |
A |
G |
5: 121,742,084 (GRCm39) |
|
probably benign |
Het |
Aldh1a7 |
T |
C |
19: 20,693,293 (GRCm39) |
I209V |
probably benign |
Het |
Alkal2 |
G |
A |
12: 30,937,264 (GRCm39) |
|
probably null |
Het |
Aqr |
A |
G |
2: 113,979,515 (GRCm39) |
F307L |
probably damaging |
Het |
Atp2a2 |
A |
G |
5: 122,595,639 (GRCm39) |
L932P |
probably damaging |
Het |
Atxn7 |
T |
C |
14: 14,013,638 (GRCm38) |
M113T |
probably damaging |
Het |
Blzf1 |
T |
A |
1: 164,134,038 (GRCm39) |
M4L |
probably benign |
Het |
Brca2 |
C |
A |
5: 150,480,364 (GRCm39) |
S2711R |
probably damaging |
Het |
Bzw1 |
A |
T |
1: 58,436,883 (GRCm39) |
Q70L |
probably damaging |
Het |
Cd34 |
T |
A |
1: 194,630,276 (GRCm39) |
I70N |
probably benign |
Het |
Chac1 |
A |
G |
2: 119,181,999 (GRCm39) |
Y39C |
probably damaging |
Het |
Col6a2 |
G |
C |
10: 76,449,112 (GRCm39) |
P275A |
probably damaging |
Het |
Crb1 |
T |
A |
1: 139,176,627 (GRCm39) |
N452I |
probably damaging |
Het |
Ctrc |
T |
C |
4: 141,566,094 (GRCm39) |
N188S |
probably damaging |
Het |
Dnah7b |
G |
A |
1: 46,307,924 (GRCm39) |
|
probably null |
Het |
Etl4 |
GGGGAAGAACCGG |
GGG |
2: 20,811,273 (GRCm39) |
|
probably null |
Het |
Exoc6 |
T |
A |
19: 37,576,081 (GRCm39) |
|
probably null |
Het |
Gm5616 |
T |
A |
9: 48,361,716 (GRCm39) |
|
noncoding transcript |
Het |
Gm7535 |
T |
C |
17: 18,131,788 (GRCm39) |
|
probably benign |
Het |
Hnrnpr |
T |
C |
4: 136,059,798 (GRCm39) |
S200P |
probably damaging |
Het |
Ighg2b |
T |
C |
12: 113,270,767 (GRCm39) |
N121S |
unknown |
Het |
Il21 |
T |
A |
3: 37,281,917 (GRCm39) |
K76* |
probably null |
Het |
Jup |
T |
A |
11: 100,267,632 (GRCm39) |
T564S |
possibly damaging |
Het |
Kcns2 |
G |
C |
15: 34,839,199 (GRCm39) |
R187S |
possibly damaging |
Het |
Klhl18 |
G |
A |
9: 110,275,896 (GRCm39) |
T84M |
probably damaging |
Het |
Mtor |
T |
A |
4: 148,630,882 (GRCm39) |
L2280M |
probably damaging |
Het |
Ncoa6 |
A |
G |
2: 155,263,756 (GRCm39) |
I226T |
probably benign |
Het |
Nipbl |
A |
T |
15: 8,396,196 (GRCm39) |
Y126N |
possibly damaging |
Het |
Nlrp4a |
T |
A |
7: 26,149,589 (GRCm39) |
C399S |
probably damaging |
Het |
Nphp3 |
A |
G |
9: 103,913,352 (GRCm39) |
K54E |
probably damaging |
Het |
Nsun2 |
T |
A |
13: 69,771,368 (GRCm39) |
V326E |
probably benign |
Het |
Oosp3 |
T |
C |
19: 11,674,537 (GRCm39) |
|
probably null |
Het |
Or4k15b |
A |
G |
14: 50,272,746 (GRCm39) |
I38T |
probably benign |
Het |
Pcdhga9 |
T |
C |
18: 37,871,301 (GRCm39) |
S377P |
probably damaging |
Het |
Pdlim3 |
A |
G |
8: 46,368,300 (GRCm39) |
|
probably null |
Het |
Pla2r1 |
A |
T |
2: 60,345,328 (GRCm39) |
W343R |
probably damaging |
Het |
Prox2 |
A |
G |
12: 85,134,721 (GRCm39) |
V520A |
probably benign |
Het |
Rfx3 |
T |
C |
19: 27,771,008 (GRCm39) |
|
probably null |
Het |
Rif1 |
A |
C |
2: 52,011,170 (GRCm39) |
R2412S |
possibly damaging |
Het |
Rreb1 |
T |
C |
13: 38,131,397 (GRCm39) |
L1517P |
probably benign |
Het |
Sbf2 |
T |
C |
7: 110,038,108 (GRCm39) |
E399G |
probably damaging |
Het |
Slc36a4 |
A |
C |
9: 15,640,098 (GRCm39) |
|
probably null |
Het |
Slco1a1 |
A |
T |
6: 141,885,695 (GRCm39) |
M110K |
probably damaging |
Het |
Stat5a |
T |
A |
11: 100,767,634 (GRCm39) |
C401S |
probably benign |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Tmem150c |
T |
C |
5: 100,231,523 (GRCm39) |
T151A |
probably damaging |
Het |
Ube4a |
A |
T |
9: 44,862,179 (GRCm39) |
M173K |
probably damaging |
Het |
Vmn1r188 |
A |
T |
13: 22,272,342 (GRCm39) |
S99C |
probably damaging |
Het |
Vmn2r70 |
C |
T |
7: 85,208,572 (GRCm39) |
C635Y |
probably damaging |
Het |
Zfp644 |
T |
C |
5: 106,767,461 (GRCm39) |
K24E |
probably damaging |
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 |
R0257:Rxfp1
|
UTSW |
3 |
79,589,842 (GRCm39) |
missense |
possibly damaging |
0.61 |
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 |
|
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'- GCTTGCAACTAGAAAACCATACTTG -3'
(R):5'- AATATGGAGACTGGGGCCAC -3'
Sequencing Primer
(F):5'- GAAAACCATACTTGACTTTCAAAAGC -3'
(R):5'- CCCCAGGCCTCCGACTG -3'
|
Posted On |
2016-11-08 |