Incidental Mutation 'R6462:Rxfp1'
ID |
517626 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rxfp1
|
Ensembl Gene |
ENSMUSG00000034009 |
Gene Name |
relaxin/insulin-like family peptide receptor 1 |
Synonyms |
LOC381489, Lgr7 |
MMRRC Submission |
044596-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
R6462 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
79548918-79645187 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 79555596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 587
(I587F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077611
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078527]
[ENSMUST00000182491]
|
AlphaFold |
Q6R6I7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078527
AA Change: I587F
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000077611 Gene: ENSMUSG00000034009 AA Change: I587F
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183199
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.6%
|
Validation Efficiency |
95% (37/39) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arpc1a |
C |
T |
5: 145,045,197 (GRCm39) |
S362F |
probably benign |
Het |
Brd9 |
C |
T |
13: 74,088,788 (GRCm39) |
A171V |
probably damaging |
Het |
Camta1 |
A |
G |
4: 151,170,621 (GRCm39) |
V62A |
probably damaging |
Het |
Cdc5l |
G |
A |
17: 45,703,975 (GRCm39) |
R750C |
probably benign |
Het |
Ctdp1 |
C |
T |
18: 80,463,689 (GRCm39) |
E116K |
probably damaging |
Het |
Dync2i1 |
T |
C |
12: 116,193,251 (GRCm39) |
N567S |
probably benign |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Epor |
T |
C |
9: 21,870,551 (GRCm39) |
E443G |
probably benign |
Het |
Fam90a1a |
A |
T |
8: 22,449,298 (GRCm39) |
Q14L |
probably benign |
Het |
Herc4 |
T |
C |
10: 63,124,880 (GRCm39) |
L498P |
probably benign |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Lmod2 |
T |
G |
6: 24,604,300 (GRCm39) |
V425G |
probably benign |
Het |
Ly6c1 |
T |
A |
15: 74,916,178 (GRCm39) |
|
probably benign |
Het |
Me2 |
C |
A |
18: 73,908,470 (GRCm39) |
V490F |
probably benign |
Het |
Mllt3 |
T |
C |
4: 87,692,338 (GRCm39) |
T27A |
probably damaging |
Het |
Mmp1a |
T |
C |
9: 7,467,039 (GRCm39) |
Y239H |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,373,993 (GRCm39) |
|
probably null |
Het |
Myo15b |
A |
C |
11: 115,750,268 (GRCm39) |
E346A |
probably benign |
Het |
Myo3a |
T |
C |
2: 22,448,423 (GRCm39) |
F66S |
probably damaging |
Het |
Ncor2 |
T |
C |
5: 125,101,236 (GRCm39) |
Y137C |
probably damaging |
Het |
Nup98 |
A |
T |
7: 101,844,223 (GRCm39) |
F37L |
probably benign |
Het |
Odf2l |
T |
G |
3: 144,852,672 (GRCm39) |
L472R |
probably damaging |
Het |
Or10al2 |
T |
C |
17: 37,983,111 (GRCm39) |
Y66H |
probably damaging |
Het |
P4ha3 |
T |
A |
7: 99,963,873 (GRCm39) |
I463N |
probably damaging |
Het |
Pappa |
C |
A |
4: 65,043,128 (GRCm39) |
T117K |
probably damaging |
Het |
Ppme1 |
C |
A |
7: 99,987,599 (GRCm39) |
R271M |
probably benign |
Het |
Rps6ka4 |
T |
G |
19: 6,814,957 (GRCm39) |
E249A |
possibly damaging |
Het |
Sipa1l2 |
A |
G |
8: 126,217,969 (GRCm39) |
V456A |
probably damaging |
Het |
Slc25a23 |
T |
A |
17: 57,359,720 (GRCm39) |
I344F |
probably damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Tbc1d10c |
T |
C |
19: 4,234,893 (GRCm39) |
I389M |
possibly damaging |
Het |
Tep1 |
A |
G |
14: 51,081,836 (GRCm39) |
F1205L |
probably benign |
Het |
Tgfbr1 |
T |
A |
4: 47,402,846 (GRCm39) |
H214Q |
probably damaging |
Het |
Traf3ip2 |
T |
A |
10: 39,515,243 (GRCm39) |
N340K |
probably benign |
Het |
Zbbx |
T |
C |
3: 74,985,966 (GRCm39) |
E362G |
probably benign |
Het |
Zfp46 |
A |
C |
4: 136,017,924 (GRCm39) |
T253P |
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 |
|
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 |
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'- CCTGGTATTTCCACCTGAAGC -3'
(R):5'- AGTTGAAGGCTCATCTGAACAAC -3'
Sequencing Primer
(F):5'- TTTCCACCTGAAGCAGTGAAAG -3'
(R):5'- TCTGAACAACACAGTAAGGCCTTG -3'
|
Posted On |
2018-05-21 |