Incidental Mutation 'R2389:Rxfp3'
ID |
247744 |
Institutional Source |
Beutler Lab
|
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 # |
R2389 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
11033803-11038054 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 11036770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 201
(C201R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062741
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058007]
|
AlphaFold |
Q8BGE9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058007
AA Change: C201R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000062741 Gene: ENSMUSG00000060735 AA Change: C201R
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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr5 |
T |
C |
2: 158,467,132 (GRCm39) |
V24A |
probably benign |
Het |
Adrm1 |
C |
A |
2: 179,816,116 (GRCm39) |
|
probably benign |
Het |
Cdk13 |
T |
A |
13: 17,926,361 (GRCm39) |
H813L |
probably damaging |
Het |
Cdkal1 |
T |
A |
13: 29,736,219 (GRCm39) |
H300L |
probably damaging |
Het |
Cnksr1 |
T |
C |
4: 133,961,057 (GRCm39) |
I235V |
probably benign |
Het |
Ctnnd1 |
T |
A |
2: 84,454,615 (GRCm39) |
Q11L |
probably null |
Het |
Dync2h1 |
T |
C |
9: 7,122,618 (GRCm39) |
I2113V |
possibly damaging |
Het |
Eng |
T |
C |
2: 32,547,684 (GRCm39) |
|
probably null |
Het |
Gria2 |
A |
G |
3: 80,609,932 (GRCm39) |
W626R |
probably damaging |
Het |
Kctd1 |
A |
G |
18: 15,195,268 (GRCm39) |
S452P |
possibly damaging |
Het |
Kdm4c |
T |
C |
4: 74,252,107 (GRCm39) |
|
probably null |
Het |
Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Nat8f7 |
C |
A |
6: 85,684,476 (GRCm39) |
M121I |
probably benign |
Het |
Ppfibp1 |
A |
T |
6: 146,923,669 (GRCm39) |
H667L |
probably damaging |
Het |
Pramel31 |
T |
A |
4: 144,089,983 (GRCm39) |
L341H |
probably damaging |
Het |
Prss12 |
A |
G |
3: 123,280,670 (GRCm39) |
N452D |
possibly damaging |
Het |
Rab17 |
T |
C |
1: 90,891,926 (GRCm39) |
T33A |
probably benign |
Het |
Spag17 |
A |
G |
3: 100,014,153 (GRCm39) |
Y2142C |
probably benign |
Het |
Stx6 |
T |
C |
1: 155,073,164 (GRCm39) |
V225A |
possibly damaging |
Het |
Ugt2b5 |
G |
A |
5: 87,275,541 (GRCm39) |
P437S |
probably damaging |
Het |
Usp13 |
A |
G |
3: 32,959,613 (GRCm39) |
K568R |
probably benign |
Het |
Zan |
A |
G |
5: 137,474,642 (GRCm39) |
|
probably null |
Het |
Zbtb8b |
T |
C |
4: 129,327,066 (GRCm39) |
E33G |
probably benign |
Het |
Zcchc17 |
T |
A |
4: 130,220,997 (GRCm39) |
K185* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACTGATGATGCTCAGCG -3'
(R):5'- AGACTTCAAGTGGCCCTTCG -3'
Sequencing Primer
(F):5'- TTCTGCAGGTGGTACAAACC -3'
(R):5'- CCATGAACATGTACGCCA -3'
|
Posted On |
2014-11-11 |