Incidental Mutation 'R6730:Rxfp1'
| ID |
530001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rxfp1
|
| Ensembl Gene |
ENSMUSG00000034009 |
| Gene Name |
relaxin/insulin-like family peptide receptor 1 |
| Synonyms |
LOC381489, Lgr7 |
| MMRRC Submission |
044848-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R6730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
79548918-79645187 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 79557898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 527
(R527*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078527]
[ENSMUST00000182491]
|
| AlphaFold |
Q6R6I7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000078527
AA Change: R527*
|
| SMART Domains |
Protein: ENSMUSP00000077611
Gene: ENSMUSG00000034009
AA Change: R527*
| 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: ENSMUST00000183040
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183199
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930455H04Rik |
T |
A |
3: 116,777,124 (GRCm39) |
*59R |
probably null |
Het |
| Adam10 |
G |
T |
9: 70,647,458 (GRCm39) |
|
probably null |
Het |
| Adam2 |
A |
T |
14: 66,275,025 (GRCm39) |
N569K |
possibly damaging |
Het |
| Adam20 |
T |
C |
8: 41,249,696 (GRCm39) |
V602A |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,133,375 (GRCm39) |
Y1237C |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,265,338 (GRCm39) |
T318A |
probably null |
Het |
| Aknad1 |
G |
A |
3: 108,659,655 (GRCm39) |
G223D |
possibly damaging |
Het |
| Camkv |
T |
C |
9: 107,825,516 (GRCm39) |
S478P |
possibly damaging |
Het |
| Ccl27a |
T |
A |
4: 41,773,342 (GRCm39) |
H39L |
probably damaging |
Het |
| Ccser2 |
C |
A |
14: 36,601,043 (GRCm39) |
S447I |
probably damaging |
Het |
| Clvs2 |
A |
G |
10: 33,404,517 (GRCm39) |
L233P |
probably damaging |
Het |
| Csn1s2b |
T |
A |
5: 87,970,127 (GRCm39) |
H124Q |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,353,082 (GRCm39) |
L2745P |
probably benign |
Het |
| Dync1i2 |
T |
A |
2: 71,077,484 (GRCm39) |
F219L |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,594,308 (GRCm39) |
Q613* |
probably null |
Het |
| Erc2 |
A |
C |
14: 27,620,524 (GRCm39) |
D50A |
possibly damaging |
Het |
| Fam149a |
T |
A |
8: 45,834,211 (GRCm39) |
D196V |
probably damaging |
Het |
| Ficd |
T |
C |
5: 113,876,773 (GRCm39) |
V316A |
probably damaging |
Het |
| Gstm6 |
T |
A |
3: 107,850,041 (GRCm39) |
K18* |
probably null |
Het |
| Ighv1-62-1 |
A |
T |
12: 115,350,512 (GRCm39) |
W52R |
probably benign |
Het |
| Klhl18 |
C |
T |
9: 110,257,979 (GRCm39) |
C417Y |
probably damaging |
Het |
| Ly9 |
T |
A |
1: 171,432,737 (GRCm39) |
Y92F |
probably benign |
Het |
| Mettl18 |
C |
T |
1: 163,824,750 (GRCm39) |
T357I |
probably damaging |
Het |
| Myoz2 |
C |
A |
3: 122,810,276 (GRCm39) |
G100C |
probably damaging |
Het |
| Or10a49 |
A |
T |
7: 108,467,780 (GRCm39) |
F194I |
probably benign |
Het |
| Or4k47 |
A |
G |
2: 111,452,080 (GRCm39) |
V113A |
probably damaging |
Het |
| Or7h8 |
T |
C |
9: 20,123,798 (GRCm39) |
I51T |
probably benign |
Het |
| Pars2 |
C |
T |
4: 106,510,628 (GRCm39) |
L128F |
probably damaging |
Het |
| Pcsk6 |
G |
T |
7: 65,629,996 (GRCm39) |
R374L |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,270,088 (GRCm39) |
T25A |
probably benign |
Het |
| Rab11fip1 |
G |
A |
8: 27,633,257 (GRCm39) |
P1150S |
probably damaging |
Het |
| Rabep1 |
A |
G |
11: 70,831,212 (GRCm39) |
Q831R |
possibly damaging |
Het |
| Rad17 |
T |
C |
13: 100,786,253 (GRCm39) |
|
probably benign |
Het |
| Scnn1b |
C |
T |
7: 121,502,100 (GRCm39) |
P253S |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc2a7 |
T |
C |
4: 150,242,605 (GRCm39) |
F231S |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,049,311 (GRCm39) |
N196S |
probably benign |
Het |
| Tent5c |
T |
A |
3: 100,380,273 (GRCm39) |
N161I |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,575,971 (GRCm39) |
S862G |
possibly damaging |
Het |
| Usp30 |
T |
C |
5: 114,241,770 (GRCm39) |
S87P |
probably damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,237 (GRCm39) |
H213L |
probably damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,499,096 (GRCm39) |
I272L |
possibly damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,832,012 (GRCm39) |
D259V |
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 |
|
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 |
|
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'- CTTGCAATGCAGGATTTCTTACC -3'
(R):5'- TGATTGGTGCCTTTGACCTC -3'
Sequencing Primer
(F):5'- CTCCATTGGTGCCATAGT -3'
(R):5'- CCTCAAGTTTCGGGGAGAGTAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation