Incidental Mutation 'IGL02153:Rxfp1'
| ID |
282126 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rxfp1
|
| Ensembl Gene |
ENSMUSG00000034009 |
| Gene Name |
relaxin/insulin-like family peptide receptor 1 |
| Synonyms |
LOC381489, Lgr7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
IGL02153
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
79548918-79645187 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79567427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 308
(E308K)
|
| 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: E308K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000077611
Gene: ENSMUSG00000034009
AA Change: E308K
| 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
|
| Coding Region Coverage |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
T |
C |
2: 152,283,161 (GRCm39) |
I275T |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,683,122 (GRCm39) |
K521* |
probably null |
Het |
| Csn3 |
A |
T |
5: 88,077,956 (GRCm39) |
N154I |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,180,670 (GRCm39) |
S1716P |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,846,304 (GRCm39) |
S18T |
probably benign |
Het |
| Esrra |
G |
A |
19: 6,891,190 (GRCm39) |
T190I |
probably benign |
Het |
| F13b |
T |
C |
1: 139,444,115 (GRCm39) |
I483T |
probably damaging |
Het |
| Foxb1 |
T |
A |
9: 69,666,985 (GRCm39) |
M182L |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,809,065 (GRCm39) |
F1795L |
probably benign |
Het |
| Gkn2 |
G |
A |
6: 87,350,390 (GRCm39) |
|
probably null |
Het |
| Gm8439 |
G |
A |
4: 120,466,787 (GRCm39) |
A93T |
unknown |
Het |
| Ift22 |
T |
C |
5: 136,940,550 (GRCm39) |
S72P |
probably benign |
Het |
| Kcnmb2 |
A |
G |
3: 32,232,993 (GRCm39) |
K24E |
probably damaging |
Het |
| Kcnq3 |
C |
A |
15: 65,897,040 (GRCm39) |
V287L |
probably damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,006,340 (GRCm39) |
M1262L |
probably benign |
Het |
| Mb21d2 |
A |
G |
16: 28,748,240 (GRCm39) |
I59T |
probably benign |
Het |
| Mogat2 |
A |
T |
7: 98,872,761 (GRCm39) |
M141K |
possibly damaging |
Het |
| Mtdh |
C |
T |
15: 34,131,396 (GRCm39) |
L409F |
possibly damaging |
Het |
| Muc5ac |
C |
T |
7: 141,372,537 (GRCm39) |
Q2724* |
probably null |
Het |
| Myo15a |
T |
G |
11: 60,389,223 (GRCm39) |
L2040R |
probably damaging |
Het |
| Nodal |
C |
T |
10: 61,260,324 (GRCm39) |
T325I |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,215,674 (GRCm39) |
T1194S |
probably damaging |
Het |
| Pcdhb13 |
A |
C |
18: 37,576,738 (GRCm39) |
D372A |
probably damaging |
Het |
| Phf14 |
T |
A |
6: 11,934,015 (GRCm39) |
N292K |
probably damaging |
Het |
| Pigr |
T |
A |
1: 130,776,793 (GRCm39) |
|
probably null |
Het |
| Plcb1 |
T |
C |
2: 135,229,773 (GRCm39) |
I1131T |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,688,772 (GRCm39) |
D132V |
probably damaging |
Het |
| Plxnb2 |
C |
A |
15: 89,050,016 (GRCm39) |
E502* |
probably null |
Het |
| Prox2 |
T |
C |
12: 85,134,703 (GRCm39) |
N526S |
probably damaging |
Het |
| Rdm1 |
T |
A |
11: 101,519,280 (GRCm39) |
|
probably null |
Het |
| Sgca |
T |
C |
11: 94,854,110 (GRCm39) |
T120A |
probably damaging |
Het |
| Sh3tc1 |
G |
A |
5: 35,860,696 (GRCm39) |
R1054W |
probably damaging |
Het |
| Smarcal1 |
C |
T |
1: 72,672,214 (GRCm39) |
|
probably benign |
Het |
| Spata45 |
T |
A |
1: 190,771,958 (GRCm39) |
M60K |
probably benign |
Het |
| St8sia6 |
T |
C |
2: 13,661,716 (GRCm39) |
M372V |
probably damaging |
Het |
| Tas2r126 |
T |
G |
6: 42,411,598 (GRCm39) |
S44A |
probably benign |
Het |
| Tcea3 |
T |
A |
4: 136,000,945 (GRCm39) |
|
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,668,949 (GRCm39) |
E1157G |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,546,857 (GRCm39) |
I840V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,728,685 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,187,471 (GRCm39) |
Y3846* |
probably null |
Het |
| Usp47 |
G |
A |
7: 111,703,256 (GRCm39) |
D1171N |
probably benign |
Het |
| Vmn2r114 |
G |
A |
17: 23,510,782 (GRCm39) |
T566I |
probably benign |
Het |
| Wdr35 |
G |
A |
12: 9,058,535 (GRCm39) |
R575Q |
probably null |
Het |
| Xkr5 |
A |
T |
8: 18,983,683 (GRCm39) |
C454S |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation