Incidental Mutation 'IGL02998:Rxfp3'
| ID |
407214 |
| 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 # |
IGL02998
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
11033803-11038054 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11037054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 106
(M106K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058007]
|
| AlphaFold |
Q8BGE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058007
AA Change: M106K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062741
Gene: ENSMUSG00000060735
AA Change: M106K
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
C |
T |
4: 129,912,862 (GRCm39) |
A1329V |
probably benign |
Het |
| Bhlha9 |
G |
A |
11: 76,563,570 (GRCm39) |
A66T |
probably damaging |
Het |
| Dock10 |
G |
A |
1: 80,551,259 (GRCm39) |
R681W |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,307,356 (GRCm39) |
L1433P |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,279,814 (GRCm39) |
I610V |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,850,040 (GRCm39) |
F1859S |
possibly damaging |
Het |
| Gad1 |
A |
G |
2: 70,420,163 (GRCm39) |
Y349C |
probably damaging |
Het |
| Galnt1 |
T |
A |
18: 24,397,469 (GRCm39) |
I190N |
probably damaging |
Het |
| Gm28042 |
G |
A |
2: 119,870,635 (GRCm39) |
V768I |
possibly damaging |
Het |
| Gm8220 |
T |
C |
14: 44,525,765 (GRCm39) |
|
probably null |
Het |
| Higd1a |
A |
G |
9: 121,678,690 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,108,165 (GRCm39) |
Y206N |
possibly damaging |
Het |
| Itpk1 |
A |
G |
12: 102,545,398 (GRCm39) |
V235A |
probably damaging |
Het |
| Itpka |
A |
G |
2: 119,581,242 (GRCm39) |
Q425R |
possibly damaging |
Het |
| Kpna6 |
T |
A |
4: 129,549,297 (GRCm39) |
I162F |
probably benign |
Het |
| Msantd1 |
A |
G |
5: 35,078,768 (GRCm39) |
D101G |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 78,227,405 (GRCm39) |
I43V |
probably damaging |
Het |
| Pias3 |
G |
A |
3: 96,609,495 (GRCm39) |
E271K |
probably damaging |
Het |
| Pparg |
A |
G |
6: 115,440,049 (GRCm39) |
I178V |
probably benign |
Het |
| Scn3b |
G |
A |
9: 40,199,713 (GRCm39) |
V210M |
possibly damaging |
Het |
| Shisa3 |
A |
G |
5: 67,765,848 (GRCm39) |
D33G |
possibly damaging |
Het |
| Suz12 |
T |
A |
11: 79,920,149 (GRCm39) |
W570R |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,578,017 (GRCm39) |
K442M |
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 |
|
IGL03079:Rxfp3
|
APN |
15 |
11,036,909 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
Incidental Mutation