Incidental Mutation 'IGL03079:Rxfp3'
ID |
417803 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rxfp3
|
Ensembl Gene |
ENSMUSG00000060735 |
Gene Name |
relaxin family peptide receptor 3 |
Synonyms |
Rln3r1, Salpr |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03079
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
11033803-11038054 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 11036909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 154
(M154I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062741
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058007]
|
AlphaFold |
Q8BGE9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058007
AA Change: M154I
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000062741 Gene: ENSMUSG00000060735 AA Change: M154I
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
98 |
392 |
1.7e-48 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display a subtle decrease in anxiety related behaviors and hypoactivity in their home cages. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alx1 |
T |
A |
10: 102,845,209 (GRCm39) |
H274L |
probably damaging |
Het |
Arl6ip4 |
A |
T |
5: 124,254,990 (GRCm39) |
H59L |
possibly damaging |
Het |
C1ra |
A |
G |
6: 124,496,794 (GRCm39) |
Y410C |
probably damaging |
Het |
Ceacam11 |
A |
G |
7: 17,712,361 (GRCm39) |
N270S |
probably benign |
Het |
Cmtr1 |
T |
A |
17: 29,882,267 (GRCm39) |
N39K |
possibly damaging |
Het |
Cmya5 |
T |
C |
13: 93,234,209 (GRCm39) |
D293G |
possibly damaging |
Het |
Cyp2d11 |
T |
C |
15: 82,275,167 (GRCm39) |
E260G |
probably damaging |
Het |
Dnajc13 |
C |
T |
9: 104,090,068 (GRCm39) |
W700* |
probably null |
Het |
Efemp2 |
G |
T |
19: 5,525,155 (GRCm39) |
L20F |
probably damaging |
Het |
Hars1 |
G |
A |
18: 36,903,556 (GRCm39) |
L289F |
probably damaging |
Het |
Hdlbp |
A |
G |
1: 93,341,662 (GRCm39) |
|
probably benign |
Het |
Iqgap3 |
A |
T |
3: 88,020,477 (GRCm39) |
M374L |
probably benign |
Het |
Lrig2 |
A |
T |
3: 104,398,287 (GRCm39) |
W281R |
probably damaging |
Het |
Lyg2 |
C |
T |
1: 37,946,727 (GRCm39) |
E185K |
possibly damaging |
Het |
Maml2 |
A |
G |
9: 13,532,912 (GRCm39) |
|
probably benign |
Het |
Marchf11 |
T |
C |
15: 26,311,144 (GRCm39) |
S207P |
probably damaging |
Het |
Nipa2 |
A |
T |
7: 55,583,205 (GRCm39) |
V180E |
probably damaging |
Het |
Or4k6 |
A |
T |
14: 50,475,581 (GRCm39) |
C254S |
possibly damaging |
Het |
P2rx5 |
A |
G |
11: 73,055,714 (GRCm39) |
D57G |
possibly damaging |
Het |
Pxdn |
T |
C |
12: 30,052,997 (GRCm39) |
I1058T |
probably damaging |
Het |
Slc3a1 |
T |
A |
17: 85,367,251 (GRCm39) |
Y479* |
probably null |
Het |
Tamalin |
T |
C |
15: 101,128,448 (GRCm39) |
V162A |
probably damaging |
Het |
Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
Ttll5 |
T |
C |
12: 85,923,332 (GRCm39) |
Y270H |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,382,247 (GRCm39) |
E1986G |
possibly damaging |
Het |
Zfp719 |
A |
G |
7: 43,240,590 (GRCm39) |
Y726C |
probably damaging |
Het |
Zfp810 |
T |
C |
9: 22,195,423 (GRCm39) |
E7G |
probably damaging |
Het |
|
Other mutations in Rxfp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00870:Rxfp3
|
APN |
15 |
11,036,391 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00870:Rxfp3
|
APN |
15 |
11,036,301 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01844:Rxfp3
|
APN |
15 |
11,037,132 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02998:Rxfp3
|
APN |
15 |
11,037,054 (GRCm39) |
missense |
probably damaging |
0.98 |
R0462:Rxfp3
|
UTSW |
15 |
11,037,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R1567:Rxfp3
|
UTSW |
15 |
11,036,187 (GRCm39) |
missense |
probably benign |
0.00 |
R1616:Rxfp3
|
UTSW |
15 |
11,036,389 (GRCm39) |
missense |
probably damaging |
0.96 |
R2389:Rxfp3
|
UTSW |
15 |
11,036,770 (GRCm39) |
missense |
probably damaging |
0.97 |
R2432:Rxfp3
|
UTSW |
15 |
11,036,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R3081:Rxfp3
|
UTSW |
15 |
11,037,303 (GRCm39) |
missense |
probably benign |
0.00 |
R4936:Rxfp3
|
UTSW |
15 |
11,036,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R4963:Rxfp3
|
UTSW |
15 |
11,036,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R5788:Rxfp3
|
UTSW |
15 |
11,036,250 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6679:Rxfp3
|
UTSW |
15 |
11,035,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R7148:Rxfp3
|
UTSW |
15 |
11,036,863 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7252:Rxfp3
|
UTSW |
15 |
11,036,025 (GRCm39) |
missense |
probably benign |
0.40 |
R7495:Rxfp3
|
UTSW |
15 |
11,036,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R7555:Rxfp3
|
UTSW |
15 |
11,036,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R7743:Rxfp3
|
UTSW |
15 |
11,037,216 (GRCm39) |
missense |
probably damaging |
0.99 |
R8361:Rxfp3
|
UTSW |
15 |
11,036,784 (GRCm39) |
missense |
probably benign |
0.05 |
R9717:Rxfp3
|
UTSW |
15 |
11,037,111 (GRCm39) |
missense |
possibly damaging |
0.90 |
X0065:Rxfp3
|
UTSW |
15 |
11,036,515 (GRCm39) |
missense |
probably benign |
0.45 |
|
Posted On |
2016-08-02 |