Incidental Mutation 'R4607:Rxfp1'
| ID |
346063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rxfp1
|
| Ensembl Gene |
ENSMUSG00000034009 |
| Gene Name |
relaxin/insulin-like family peptide receptor 1 |
| Synonyms |
LOC381489, Lgr7 |
| MMRRC Submission |
041818-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R4607 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
79548918-79645187 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79594196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 66
(N66S)
|
| 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: N66S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000077611
Gene: ENSMUSG00000034009
AA Change: N66S
| 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: N66S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138578
Gene: ENSMUSG00000034009
AA Change: N66S
| Domain | Start | End | E-Value | Type |
|---|
|
LDLa
|
26 |
64 |
1.61e-8 |
SMART |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (65/67) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
A |
10: 106,802,890 (GRCm39) |
I452F |
possibly damaging |
Het |
| Adgra3 |
A |
C |
5: 50,128,081 (GRCm39) |
V800G |
probably damaging |
Het |
| Aldh1a1 |
A |
T |
19: 20,599,051 (GRCm39) |
Y154F |
probably benign |
Het |
| Bbs10 |
T |
G |
10: 111,136,681 (GRCm39) |
I598S |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Ccnl1 |
C |
T |
3: 65,854,131 (GRCm39) |
|
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,134,078 (GRCm39) |
I310V |
possibly damaging |
Het |
| Cpeb3 |
A |
G |
19: 37,152,239 (GRCm39) |
S46P |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dlgap5 |
A |
G |
14: 47,650,475 (GRCm39) |
I151T |
possibly damaging |
Het |
| Dsg4 |
C |
T |
18: 20,604,302 (GRCm39) |
T923M |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,853,769 (GRCm39) |
R618L |
probably benign |
Het |
| Erlin1 |
C |
T |
19: 44,051,474 (GRCm39) |
V76M |
probably damaging |
Het |
| Fam161a |
G |
A |
11: 22,970,710 (GRCm39) |
S296N |
probably benign |
Het |
| Fam187b |
T |
A |
7: 30,677,170 (GRCm39) |
N226K |
probably benign |
Het |
| Fes |
G |
A |
7: 80,036,959 (GRCm39) |
R42W |
probably damaging |
Het |
| Fmnl2 |
T |
A |
2: 52,993,728 (GRCm39) |
N374K |
possibly damaging |
Het |
| Fpgt |
G |
A |
3: 154,792,333 (GRCm39) |
Q565* |
probably null |
Het |
| Gm26657 |
C |
A |
4: 56,741,114 (GRCm39) |
H100N |
probably benign |
Het |
| Gna14 |
A |
G |
19: 16,511,075 (GRCm39) |
|
probably null |
Het |
| Gsg1l |
T |
A |
7: 125,557,721 (GRCm39) |
I136F |
probably damaging |
Het |
| Hhip |
C |
T |
8: 80,724,192 (GRCm39) |
R350Q |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,263,271 (GRCm39) |
R394Q |
probably damaging |
Het |
| Ipo11 |
A |
G |
13: 107,037,319 (GRCm39) |
S175P |
probably damaging |
Het |
| Klk13 |
C |
A |
7: 43,363,284 (GRCm39) |
C10* |
probably null |
Het |
| Leng8 |
T |
A |
7: 4,147,796 (GRCm39) |
I607N |
probably damaging |
Het |
| Map3k2 |
T |
C |
18: 32,333,030 (GRCm39) |
L68P |
probably damaging |
Het |
| Memo1 |
G |
A |
17: 74,565,456 (GRCm39) |
Q36* |
probably null |
Het |
| Mink1 |
A |
G |
11: 70,496,893 (GRCm39) |
E417G |
possibly damaging |
Het |
| Myrf |
G |
T |
19: 10,206,431 (GRCm39) |
D29E |
probably damaging |
Het |
| Nelfcd |
T |
A |
2: 174,264,955 (GRCm39) |
D215E |
probably benign |
Het |
| Nostrin |
G |
A |
2: 69,014,243 (GRCm39) |
V400M |
possibly damaging |
Het |
| Nrip1 |
T |
C |
16: 76,089,920 (GRCm39) |
T546A |
probably benign |
Het |
| Or13a24 |
A |
G |
7: 140,154,554 (GRCm39) |
M163V |
probably benign |
Het |
| Or1l4 |
T |
A |
2: 37,092,094 (GRCm39) |
Y280* |
probably null |
Het |
| Or2h2b-ps1 |
A |
T |
17: 37,481,173 (GRCm39) |
V20E |
probably damaging |
Het |
| Or4c114 |
G |
T |
2: 88,904,656 (GRCm39) |
P260T |
probably benign |
Het |
| Or6aa1 |
A |
T |
7: 86,043,718 (GRCm39) |
|
probably null |
Het |
| Or8g32 |
T |
C |
9: 39,306,031 (GRCm39) |
*312Q |
probably null |
Het |
| P2ry6 |
A |
G |
7: 100,587,511 (GRCm39) |
Y283H |
probably damaging |
Het |
| Pcdh9 |
T |
A |
14: 93,253,009 (GRCm39) |
N1218I |
probably benign |
Het |
| Pcdhga6 |
A |
G |
18: 37,841,671 (GRCm39) |
N464D |
probably damaging |
Het |
| Pramel52-ps |
G |
T |
5: 94,531,387 (GRCm39) |
R90S |
probably benign |
Het |
| Rdx |
T |
A |
9: 51,980,137 (GRCm39) |
S243R |
probably damaging |
Het |
| Slit1 |
C |
A |
19: 41,605,232 (GRCm39) |
R873L |
probably benign |
Het |
| Spata31e3 |
G |
A |
13: 50,399,542 (GRCm39) |
T928I |
possibly damaging |
Het |
| Strc |
T |
A |
2: 121,203,426 (GRCm39) |
I1130F |
probably benign |
Het |
| Tlk2 |
T |
A |
11: 105,145,844 (GRCm39) |
L350Q |
probably damaging |
Het |
| Tmem74 |
G |
T |
15: 43,730,554 (GRCm39) |
T163K |
probably damaging |
Het |
| Trav15-1-dv6-1 |
T |
A |
14: 53,797,511 (GRCm39) |
H53Q |
probably benign |
Het |
| Trbv24 |
T |
C |
6: 41,195,335 (GRCm39) |
|
probably benign |
Het |
| Uba2 |
T |
C |
7: 33,854,021 (GRCm39) |
D307G |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,131,134 (GRCm39) |
R924Q |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,910,651 (GRCm39) |
T681I |
probably benign |
Het |
| Zbtb42 |
C |
T |
12: 112,646,976 (GRCm39) |
R384W |
probably damaging |
Het |
| Zfand4 |
T |
A |
6: 116,305,195 (GRCm39) |
C207* |
probably null |
Het |
| Zfp512b |
C |
A |
2: 181,230,567 (GRCm39) |
R441L |
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 |
|
|
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 |
|
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'- AGATGCTTGCAACTAGAAAACC -3'
(R):5'- TAAATATGGAGACTGGGGCCAC -3'
Sequencing Primer
(F):5'- GCTTGCAACTAGAAAACCATACTTG -3'
(R):5'- CCCCAGGCCTCCGACTG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation