Incidental Mutation 'R9574:Rxfp1'
| ID |
722168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rxfp1
|
| Ensembl Gene |
ENSMUSG00000034009 |
| Gene Name |
relaxin/insulin-like family peptide receptor 1 |
| Synonyms |
LOC381489, Lgr7 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R9574 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
79548918-79645187 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79563581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 362
(M362V)
|
| 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: M362V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000077611
Gene: ENSMUSG00000034009
AA Change: M362V
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
A |
11: 48,838,496 (GRCm39) |
E697V |
probably damaging |
Het |
| Actn4 |
T |
C |
7: 28,594,864 (GRCm39) |
D805G |
probably benign |
Het |
| Adam2 |
C |
T |
14: 66,275,071 (GRCm39) |
S554N |
probably benign |
Het |
| Adra2b |
A |
G |
2: 127,206,283 (GRCm39) |
T267A |
probably benign |
Het |
| Apobec4 |
A |
T |
1: 152,632,415 (GRCm39) |
T148S |
probably damaging |
Het |
| B4galt1 |
T |
A |
4: 40,853,766 (GRCm39) |
M14L |
probably benign |
Het |
| Bok |
C |
A |
1: 93,616,947 (GRCm39) |
Q98K |
probably benign |
Het |
| Cacnb4 |
A |
T |
2: 52,327,016 (GRCm39) |
L394Q |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,381,105 (GRCm39) |
K287E |
probably benign |
Het |
| Cdyl2 |
T |
A |
8: 117,350,669 (GRCm39) |
E154V |
probably benign |
Het |
| Cenpn |
T |
G |
8: 117,660,149 (GRCm39) |
Y160D |
probably damaging |
Het |
| Cfap20 |
T |
C |
8: 96,149,514 (GRCm39) |
Y58C |
probably benign |
Het |
| Creb5 |
T |
A |
6: 53,658,039 (GRCm39) |
L123Q |
unknown |
Het |
| Cspg4 |
G |
A |
9: 56,797,342 (GRCm39) |
V1269M |
probably damaging |
Het |
| Cyp2b19 |
G |
T |
7: 26,466,353 (GRCm39) |
K385N |
probably null |
Het |
| Cyp2b19 |
A |
T |
7: 26,466,352 (GRCm39) |
K385M |
probably damaging |
Het |
| Ercc2 |
C |
A |
7: 19,124,060 (GRCm39) |
D422E |
probably benign |
Het |
| Fbxl12 |
A |
G |
9: 20,550,109 (GRCm39) |
V129A |
possibly damaging |
Het |
| Fbxo11 |
T |
C |
17: 88,321,951 (GRCm39) |
E84G |
|
Het |
| Fmn1 |
T |
C |
2: 113,425,402 (GRCm39) |
L1192S |
probably damaging |
Het |
| Galk2 |
T |
C |
2: 125,824,979 (GRCm39) |
F392L |
probably benign |
Het |
| Gas2l3 |
G |
A |
10: 89,258,135 (GRCm39) |
H153Y |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,713,341 (GRCm39) |
K101N |
possibly damaging |
Het |
| Gmfg |
C |
T |
7: 28,145,359 (GRCm39) |
Q101* |
probably null |
Het |
| Gpr108 |
C |
T |
17: 57,545,039 (GRCm39) |
C309Y |
probably damaging |
Het |
| H3c8 |
T |
C |
13: 23,719,761 (GRCm39) |
L49P |
probably damaging |
Het |
| Hscb |
A |
T |
5: 110,982,595 (GRCm39) |
I164N |
probably damaging |
Het |
| Kifc2 |
T |
C |
15: 76,546,397 (GRCm39) |
W260R |
probably damaging |
Het |
| Lrp6 |
T |
A |
6: 134,447,662 (GRCm39) |
D995V |
possibly damaging |
Het |
| Lrrc1 |
T |
A |
9: 77,358,708 (GRCm39) |
I308F |
probably damaging |
Het |
| Map7 |
C |
T |
10: 20,153,966 (GRCm39) |
A694V |
unknown |
Het |
| Mapre2 |
A |
G |
18: 23,965,993 (GRCm39) |
D68G |
probably benign |
Het |
| Mertk |
A |
T |
2: 128,593,880 (GRCm39) |
I295F |
probably benign |
Het |
| Mst1 |
T |
A |
9: 107,962,053 (GRCm39) |
C690* |
probably null |
Het |
| Nde1 |
A |
G |
16: 13,988,345 (GRCm39) |
E76G |
probably damaging |
Het |
| Nek5 |
T |
C |
8: 22,564,040 (GRCm39) |
T597A |
probably benign |
Het |
| Nup210l |
T |
C |
3: 90,117,693 (GRCm39) |
F1800L |
probably benign |
Het |
| Or5c1 |
A |
G |
2: 37,222,148 (GRCm39) |
I130V |
possibly damaging |
Het |
| Pdpn |
T |
A |
4: 142,997,101 (GRCm39) |
D131V |
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,337,861 (GRCm39) |
V415A |
probably damaging |
Het |
| Pot1a |
T |
C |
6: 25,775,718 (GRCm39) |
T118A |
possibly damaging |
Het |
| Prom1 |
A |
G |
5: 44,158,179 (GRCm39) |
I843T |
probably benign |
Het |
| Prrt3 |
T |
C |
6: 113,474,587 (GRCm39) |
T212A |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,433,246 (GRCm39) |
|
probably null |
Het |
| Rarb |
A |
T |
14: 16,574,858 (GRCm38) |
S53T |
probably damaging |
Het |
| Rnft2 |
A |
G |
5: 118,375,330 (GRCm39) |
S140P |
probably benign |
Het |
| Sall2 |
G |
A |
14: 52,551,617 (GRCm39) |
T526M |
probably damaging |
Het |
| Scube1 |
T |
C |
15: 83,501,000 (GRCm39) |
D598G |
|
Het |
| Sema3f |
T |
A |
9: 107,566,972 (GRCm39) |
I186F |
possibly damaging |
Het |
| Shank2 |
A |
G |
7: 143,622,462 (GRCm39) |
T199A |
possibly damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,169,453 (GRCm39) |
M1427L |
probably benign |
Het |
| Sis |
C |
T |
3: 72,828,490 (GRCm39) |
G1195D |
probably benign |
Het |
| Slc25a39 |
A |
T |
11: 102,295,390 (GRCm39) |
H193Q |
probably benign |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Srgn |
A |
C |
10: 62,343,444 (GRCm39) |
L17R |
probably damaging |
Het |
| Stard5 |
A |
G |
7: 83,281,944 (GRCm39) |
N34D |
probably benign |
Het |
| Syt8 |
A |
T |
7: 141,993,203 (GRCm39) |
D220V |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,064,509 (GRCm39) |
E1313G |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,868,911 (GRCm39) |
R155G |
probably damaging |
Het |
| Tmem220 |
T |
C |
11: 66,916,093 (GRCm39) |
V30A |
probably damaging |
Het |
| Tollip |
A |
G |
7: 141,445,731 (GRCm39) |
I119T |
probably damaging |
Het |
| Treml4 |
G |
A |
17: 48,571,672 (GRCm39) |
G25D |
probably damaging |
Het |
| Trim7 |
T |
C |
11: 48,728,460 (GRCm39) |
F36S |
probably damaging |
Het |
| Txnrd3 |
T |
A |
6: 89,640,166 (GRCm39) |
C293* |
probably null |
Het |
| Utp14b |
A |
G |
1: 78,643,482 (GRCm39) |
D460G |
probably benign |
Het |
| Vmn2r41 |
T |
A |
7: 8,153,329 (GRCm39) |
N397Y |
probably benign |
Het |
| Vmn2r67 |
T |
C |
7: 84,786,017 (GRCm39) |
I663V |
probably benign |
Het |
| Zfp292 |
T |
A |
4: 34,839,460 (GRCm39) |
H135L |
probably damaging |
Het |
| Zfp420 |
C |
T |
7: 29,575,480 (GRCm39) |
R567* |
probably null |
Het |
| Zfp518b |
C |
T |
5: 38,830,773 (GRCm39) |
V411M |
probably benign |
Het |
| Zfp638 |
T |
A |
6: 83,956,680 (GRCm39) |
D1762E |
probably damaging |
Het |
| Zfp691 |
T |
A |
4: 119,028,230 (GRCm39) |
M1L |
possibly 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 |
|
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 |
|
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'- CCCAGTGCTTTGATGTACTAGC -3'
(R):5'- GCTATGAGCCAAGGAAGTGTC -3'
Sequencing Primer
(F):5'- ACGCTTCATGAAGGATCTGC -3'
(R):5'- CTAGAGAGGCTGAGACTAAGTATTTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation