Incidental Mutation 'R4540:Arrdc3'
| ID |
333507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arrdc3
|
| Ensembl Gene |
ENSMUSG00000074794 |
| Gene Name |
arrestin domain containing 3 |
| Synonyms |
|
| MMRRC Submission |
041776-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.412)
|
| Stock # |
R4540 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
81031508-81044161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 81038790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 31
(R31S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099356]
[ENSMUST00000159690]
[ENSMUST00000161441]
|
| AlphaFold |
Q7TPQ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099356
AA Change: R251S
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096957
Gene: ENSMUSG00000074794
AA Change: R251S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
9 |
165 |
3.4e-35 |
PFAM |
|
Arrestin_C
|
187 |
314 |
1.25e-29 |
SMART |
|
low complexity region
|
319 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159090
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159690
AA Change: R251S
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124418
Gene: ENSMUSG00000074794
AA Change: R251S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
9 |
165 |
3.5e-38 |
PFAM |
|
Arrestin_C
|
187 |
314 |
1.25e-29 |
SMART |
|
low complexity region
|
319 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159856
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161441
AA Change: R31S
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125455
Gene: ENSMUSG00000074794
AA Change: R31S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_C
|
4 |
94 |
2e-10 |
PFAM |
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162904
|
| Meta Mutation Damage Score |
0.1496 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| 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 arrestin family of proteins, which regulate G protein-mediated signaling. The encoded protein is thought to act as a regulator of breast cancer growth and progression by binding to a phosphorylated form of integrin beta4, a tumor-related antigen, targeting the integrin for internalization and degradation. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit resistance to age-related obesity, insulin resistance, and hepatic steatosis. Mice homozygous for a different gene trap allele exhibit resistance to obesity, embryonic lethality when dams are fed a standard chow and dandruff due to very thin skin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,508,119 (GRCm39) |
H164L |
probably damaging |
Het |
| Baiap3 |
C |
T |
17: 25,465,644 (GRCm39) |
V585M |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,621,267 (GRCm39) |
S391P |
probably damaging |
Het |
| Ccdc51 |
T |
C |
9: 108,921,288 (GRCm39) |
F392L |
possibly damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,904,012 (GRCm39) |
I194T |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,094,992 (GRCm39) |
K806E |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,652,709 (GRCm39) |
E726G |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,890,815 (GRCm39) |
Y384C |
unknown |
Het |
| Cops3 |
A |
T |
11: 59,720,980 (GRCm39) |
L145H |
probably damaging |
Het |
| Cul9 |
C |
T |
17: 46,814,015 (GRCm39) |
M2286I |
probably null |
Het |
| Echdc1 |
G |
A |
10: 29,220,578 (GRCm39) |
V245I |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,782,009 (GRCm39) |
M261L |
probably benign |
Het |
| Gm4353 |
A |
G |
7: 115,683,212 (GRCm39) |
L123P |
probably benign |
Het |
| Hcfc2 |
G |
C |
10: 82,568,481 (GRCm39) |
E42Q |
probably benign |
Het |
| Hfm1 |
A |
C |
5: 107,022,087 (GRCm39) |
Y199* |
probably null |
Het |
| Iba57 |
G |
A |
11: 59,053,904 (GRCm39) |
|
probably benign |
Het |
| Ihh |
T |
A |
1: 74,987,558 (GRCm39) |
N161I |
possibly damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,569,530 (GRCm39) |
S789P |
probably damaging |
Het |
| Kndc1 |
C |
A |
7: 139,501,343 (GRCm39) |
C877* |
probably null |
Het |
| Lhcgr |
A |
G |
17: 89,063,036 (GRCm39) |
I212T |
probably benign |
Het |
| Lrrtm2 |
T |
A |
18: 35,346,199 (GRCm39) |
T368S |
probably benign |
Het |
| Mag |
A |
C |
7: 30,600,154 (GRCm39) |
V500G |
probably damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,356,960 (GRCm39) |
V512A |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,442,725 (GRCm39) |
C759Y |
possibly damaging |
Het |
| Nup107 |
T |
C |
10: 117,597,925 (GRCm39) |
|
probably null |
Het |
| Or4c3d |
T |
C |
2: 89,882,494 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or4f56 |
T |
C |
2: 111,703,546 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pcdha1 |
A |
C |
18: 37,064,680 (GRCm39) |
D448A |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,605,506 (GRCm39) |
|
probably null |
Het |
| Pth2r |
A |
G |
1: 65,321,360 (GRCm39) |
N13S |
probably benign |
Het |
| Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
A |
G |
5: 30,461,085 (GRCm39) |
D107G |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 99,995,697 (GRCm39) |
P1779S |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,347,662 (GRCm39) |
V208A |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,115,063 (GRCm39) |
E365G |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,922,309 (GRCm39) |
T2374I |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,726,997 (GRCm39) |
I1T |
probably damaging |
Het |
|
| Other mutations in Arrdc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Arrdc3
|
APN |
13 |
81,038,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00933:Arrdc3
|
APN |
13 |
81,039,174 (GRCm39) |
splice site |
probably benign |
|
|
IGL02006:Arrdc3
|
APN |
13 |
81,031,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02009:Arrdc3
|
APN |
13 |
81,041,499 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02272:Arrdc3
|
APN |
13 |
81,039,769 (GRCm39) |
splice site |
probably benign |
|
|
IGL02634:Arrdc3
|
APN |
13 |
81,038,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03337:Arrdc3
|
APN |
13 |
81,038,766 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0008:Arrdc3
|
UTSW |
13 |
81,039,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Arrdc3
|
UTSW |
13 |
81,039,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Arrdc3
|
UTSW |
13 |
81,032,011 (GRCm39) |
nonsense |
probably null |
|
|
R0838:Arrdc3
|
UTSW |
13 |
81,037,366 (GRCm39) |
splice site |
probably benign |
|
|
R0843:Arrdc3
|
UTSW |
13 |
81,038,922 (GRCm39) |
splice site |
probably benign |
|
|
R1211:Arrdc3
|
UTSW |
13 |
81,038,817 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1404:Arrdc3
|
UTSW |
13 |
81,031,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1404:Arrdc3
|
UTSW |
13 |
81,031,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Arrdc3
|
UTSW |
13 |
81,031,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4446:Arrdc3
|
UTSW |
13 |
81,037,182 (GRCm39) |
intron |
probably benign |
|
|
R4718:Arrdc3
|
UTSW |
13 |
81,031,986 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5138:Arrdc3
|
UTSW |
13 |
81,039,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5814:Arrdc3
|
UTSW |
13 |
81,038,698 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6514:Arrdc3
|
UTSW |
13 |
81,037,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Arrdc3
|
UTSW |
13 |
81,037,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6985:Arrdc3
|
UTSW |
13 |
81,031,776 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7076:Arrdc3
|
UTSW |
13 |
81,038,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7670:Arrdc3
|
UTSW |
13 |
81,037,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8342:Arrdc3
|
UTSW |
13 |
81,031,790 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8981:Arrdc3
|
UTSW |
13 |
81,038,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9163:Arrdc3
|
UTSW |
13 |
81,041,506 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCTTCATAGTTGAGCTTCAG -3'
(R):5'- AGTGGACTACGAAAACCATACTTG -3'
Sequencing Primer
(F):5'- GAGCTTCAGAGGTCTACACTTTATAG -3'
(R):5'- GACTACGAAAACCATACTTGGATAAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation