Incidental Mutation 'R8361:Rxfp3'
| ID |
645970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rxfp3
|
| Ensembl Gene |
ENSMUSG00000060735 |
| Gene Name |
relaxin family peptide receptor 3 |
| Synonyms |
Rln3r1, Salpr |
| MMRRC Submission |
067735-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8361 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
11033803-11038054 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 11036784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 196
(R196L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058007]
|
| AlphaFold |
Q8BGE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058007
AA Change: R196L
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000062741
Gene: ENSMUSG00000060735
AA Change: R196L
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,632,153 (GRCm39) |
N161S |
possibly damaging |
Het |
| Alg2 |
T |
C |
4: 47,471,848 (GRCm39) |
Y320C |
probably damaging |
Het |
| Aox4 |
A |
T |
1: 58,279,998 (GRCm39) |
E538V |
probably benign |
Het |
| Carmil1 |
A |
C |
13: 24,251,113 (GRCm39) |
|
probably null |
Het |
| Chrd |
T |
C |
16: 20,557,487 (GRCm39) |
F702S |
possibly damaging |
Het |
| Dhx36 |
A |
T |
3: 62,388,221 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
G |
T |
15: 28,331,956 (GRCm39) |
V2181L |
probably damaging |
Het |
| Dnajc11 |
C |
A |
4: 152,055,368 (GRCm39) |
R229S |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,914,801 (GRCm39) |
N579D |
possibly damaging |
Het |
| Fam163b |
G |
A |
2: 27,002,650 (GRCm39) |
R116C |
probably benign |
Het |
| Fbxw2 |
A |
G |
2: 34,697,426 (GRCm39) |
C314R |
possibly damaging |
Het |
| Gm4847 |
T |
A |
1: 166,469,839 (GRCm39) |
H78L |
possibly damaging |
Het |
| Gtf2h3 |
T |
C |
5: 124,733,731 (GRCm39) |
V268A |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,134,289 (GRCm39) |
S104G |
possibly damaging |
Het |
| Ighv1-36 |
T |
A |
12: 114,843,627 (GRCm39) |
S78C |
probably damaging |
Het |
| Lrriq3 |
G |
A |
3: 154,806,855 (GRCm39) |
W168* |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,376,250 (GRCm39) |
F3981S |
probably damaging |
Het |
| Or10k2 |
A |
G |
8: 84,268,715 (GRCm39) |
H314R |
possibly damaging |
Het |
| Pias1 |
T |
C |
9: 62,826,668 (GRCm39) |
T265A |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,483,475 (GRCm39) |
S4121P |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,890,061 (GRCm39) |
E61G |
probably damaging |
Het |
| Sestd1 |
A |
T |
2: 77,017,572 (GRCm39) |
M665K |
probably benign |
Het |
| Slc3a1 |
C |
T |
17: 85,344,640 (GRCm39) |
R269* |
probably null |
Het |
| Smurf1 |
T |
A |
5: 144,820,506 (GRCm39) |
I521F |
probably damaging |
Het |
| Spink5 |
G |
T |
18: 44,122,529 (GRCm39) |
L331F |
probably damaging |
Het |
| Stt3b |
A |
G |
9: 115,083,988 (GRCm39) |
I396T |
probably damaging |
Het |
| Uso1 |
A |
G |
5: 92,337,121 (GRCm39) |
D635G |
probably null |
Het |
| Usp5 |
C |
T |
6: 124,801,948 (GRCm39) |
G102D |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,975,476 (GRCm39) |
R582G |
probably damaging |
Het |
| Zfp654 |
T |
C |
16: 64,612,220 (GRCm39) |
H222R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTGGAAAGTGCATGAGGC -3'
(R):5'- TGTCACTAACCTGGCACTGAC -3'
Sequencing Primer
(F):5'- ATGAGGCAGAGCTCCTCAC -3'
(R):5'- AACCTGGCACTGACTGACTTTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation