Incidental Mutation 'R7059:Rxfp1'
| ID |
548113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rxfp1
|
| Ensembl Gene |
ENSMUSG00000034009 |
| Gene Name |
relaxin/insulin-like family peptide receptor 1 |
| Synonyms |
LOC381489, Lgr7 |
| MMRRC Submission |
045156-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R7059 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
79548918-79645187 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79559576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 415
(V415E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078527]
[ENSMUST00000182491]
|
| AlphaFold |
Q6R6I7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078527
AA Change: V415E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077611
Gene: ENSMUSG00000034009
AA Change: V415E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
T |
C |
2: 32,464,509 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
A |
G |
7: 120,020,971 (GRCm39) |
T5A |
probably benign |
Het |
| Abraxas1 |
T |
C |
5: 100,954,103 (GRCm39) |
D349G |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,468,295 (GRCm39) |
L405Q |
probably damaging |
Het |
| Aqp5 |
A |
T |
15: 99,492,127 (GRCm39) |
T125S |
probably benign |
Het |
| Asah1 |
A |
T |
8: 41,800,106 (GRCm39) |
N169K |
probably damaging |
Het |
| Atl3 |
A |
G |
19: 7,511,333 (GRCm39) |
N515D |
probably benign |
Het |
| Atl3 |
A |
C |
19: 7,511,334 (GRCm39) |
N520T |
probably benign |
Het |
| Atp6v1c2 |
C |
A |
12: 17,339,005 (GRCm39) |
E249* |
probably null |
Het |
| Bcl2a1b |
T |
A |
9: 89,081,813 (GRCm39) |
I134K |
probably damaging |
Het |
| Brd10 |
T |
A |
19: 29,696,945 (GRCm39) |
E849D |
probably benign |
Het |
| Btbd10 |
C |
T |
7: 112,929,129 (GRCm39) |
R159H |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,806,866 (GRCm39) |
F7L |
probably damaging |
Het |
| Colq |
C |
A |
14: 31,247,991 (GRCm39) |
C409F |
probably damaging |
Het |
| Cpox |
T |
A |
16: 58,491,290 (GRCm39) |
V167E |
probably damaging |
Het |
| Cul3 |
T |
C |
1: 80,254,141 (GRCm39) |
Y545C |
probably benign |
Het |
| Dqx1 |
C |
T |
6: 83,041,790 (GRCm39) |
A544V |
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,801,305 (GRCm39) |
I73T |
probably benign |
Het |
| Epha3 |
T |
A |
16: 63,388,818 (GRCm39) |
Y810F |
probably damaging |
Het |
| Esp36 |
A |
T |
17: 38,727,942 (GRCm39) |
I113N |
unknown |
Het |
| Fbxw17 |
T |
A |
13: 50,586,584 (GRCm39) |
W429R |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,164,647 (GRCm39) |
I293N |
possibly damaging |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Gm8126 |
T |
A |
14: 43,118,975 (GRCm39) |
L148H |
probably benign |
Het |
| Gpr39 |
C |
A |
1: 125,605,696 (GRCm39) |
S208Y |
probably damaging |
Het |
| Heatr5a |
T |
C |
12: 51,935,017 (GRCm39) |
E1662G |
probably damaging |
Het |
| Hgfac |
T |
A |
5: 35,201,773 (GRCm39) |
L302Q |
possibly damaging |
Het |
| Itih1 |
G |
A |
14: 30,653,266 (GRCm39) |
H721Y |
possibly damaging |
Het |
| Kat8 |
A |
G |
7: 127,524,075 (GRCm39) |
I372V |
probably benign |
Het |
| Kcnk1 |
T |
A |
8: 126,756,466 (GRCm39) |
Y329* |
probably null |
Het |
| Kcns2 |
A |
T |
15: 34,838,981 (GRCm39) |
I115F |
probably damaging |
Het |
| Kif1a |
C |
T |
1: 92,974,551 (GRCm39) |
|
probably benign |
Het |
| Lcn2 |
T |
A |
2: 32,277,608 (GRCm39) |
D127V |
possibly damaging |
Het |
| Lrfn1 |
T |
C |
7: 28,166,355 (GRCm39) |
V583A |
possibly damaging |
Het |
| Map3k1 |
T |
C |
13: 111,909,312 (GRCm39) |
I55V |
probably benign |
Het |
| Mapk9 |
T |
C |
11: 49,757,874 (GRCm39) |
|
probably null |
Het |
| Mrpl18 |
A |
G |
17: 13,132,668 (GRCm39) |
S154P |
possibly damaging |
Het |
| Mst1 |
C |
A |
9: 107,961,263 (GRCm39) |
H524Q |
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,396,202 (GRCm39) |
L498P |
probably damaging |
Het |
| Myl3 |
C |
T |
9: 110,571,105 (GRCm39) |
|
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,685,111 (GRCm39) |
T90A |
probably benign |
Het |
| Mzf1 |
G |
T |
7: 12,786,985 (GRCm39) |
S28R |
probably damaging |
Het |
| Olfm1 |
T |
C |
2: 28,112,628 (GRCm39) |
S205P |
probably damaging |
Het |
| Or52e8 |
A |
T |
7: 104,625,224 (GRCm39) |
|
probably null |
Het |
| Prrc2a |
G |
A |
17: 35,376,364 (GRCm39) |
P809S |
probably damaging |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Rbm48 |
A |
T |
5: 3,640,625 (GRCm39) |
C251* |
probably null |
Het |
| Slc12a6 |
T |
A |
2: 112,183,257 (GRCm39) |
L748Q |
probably damaging |
Het |
| Slc19a3 |
T |
A |
1: 83,000,090 (GRCm39) |
Y309F |
probably damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,114,498 (GRCm39) |
D192G |
probably damaging |
Het |
| Slc38a4 |
G |
T |
15: 96,906,895 (GRCm39) |
S281* |
probably null |
Het |
| Syne1 |
A |
T |
10: 5,296,859 (GRCm39) |
S1201T |
probably damaging |
Het |
| Tex15 |
C |
A |
8: 34,064,758 (GRCm39) |
T1396K |
possibly damaging |
Het |
| Zswim8 |
G |
T |
14: 20,764,641 (GRCm39) |
|
probably null |
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 |
|
R6462:Rxfp1
|
UTSW |
3 |
79,555,596 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6730:Rxfp1
|
UTSW |
3 |
79,557,898 (GRCm39) |
nonsense |
probably null |
|
|
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'- CCAGCCCCACAGAATTTATTTTCTAG -3'
(R):5'- TGTAGTTCTTACCCACACATGC -3'
Sequencing Primer
(F):5'- GTAGCAACGATTTCAAGCCTTG -3'
(R):5'- CCCACACATGCTTTTACTATAAAGTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation