Incidental Mutation 'R6514:Arrdc3'
| ID |
520532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arrdc3
|
| Ensembl Gene |
ENSMUSG00000074794 |
| Gene Name |
arrestin domain containing 3 |
| Synonyms |
|
| MMRRC Submission |
044641-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.509)
|
| Stock # |
R6514 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
81031508-81044161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81037309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 155
(E155G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099356]
[ENSMUST00000159690]
[ENSMUST00000161441]
|
| AlphaFold |
Q7TPQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099356
AA Change: E155G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096957
Gene: ENSMUSG00000074794
AA Change: E155G
| 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 |
probably damaging
Transcript: ENSMUST00000159690
AA Change: E155G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124418
Gene: ENSMUSG00000074794
AA Change: E155G
| 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 |
noncoding transcript
Transcript: ENSMUST00000161006
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161441
|
| SMART Domains |
Protein: ENSMUSP00000125455
Gene: ENSMUSG00000074794
| 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 |
0.1394 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
95% (35/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
G |
A |
11: 50,833,569 (GRCm39) |
A11V |
unknown |
Het |
| Add1 |
T |
A |
5: 34,763,317 (GRCm39) |
H168Q |
probably damaging |
Het |
| Apol7b |
C |
T |
15: 77,308,126 (GRCm39) |
R123Q |
probably benign |
Het |
| Capn7 |
T |
G |
14: 31,066,511 (GRCm39) |
D108E |
probably benign |
Het |
| Cdc6 |
A |
G |
11: 98,810,118 (GRCm39) |
T476A |
probably benign |
Het |
| Cntnap5c |
A |
G |
17: 58,637,165 (GRCm39) |
E1014G |
probably damaging |
Het |
| Crybg1 |
A |
T |
10: 43,873,211 (GRCm39) |
L1299H |
probably damaging |
Het |
| Duoxa1 |
A |
G |
2: 122,135,194 (GRCm39) |
S184P |
probably benign |
Het |
| Ech1 |
A |
G |
7: 28,525,440 (GRCm39) |
H65R |
possibly damaging |
Het |
| Egr3 |
T |
C |
14: 70,316,366 (GRCm39) |
L59P |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,190,996 (GRCm39) |
D724E |
probably null |
Het |
| Erbb2 |
A |
G |
11: 98,310,972 (GRCm39) |
D44G |
probably benign |
Het |
| Fer1l5 |
A |
G |
1: 36,442,697 (GRCm39) |
I739V |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,380,879 (GRCm39) |
F665L |
probably benign |
Het |
| Gm10801 |
T |
A |
2: 98,494,214 (GRCm39) |
W119R |
probably benign |
Het |
| H2-M11 |
A |
T |
17: 36,859,839 (GRCm39) |
E277D |
probably damaging |
Het |
| Ighv1-66 |
T |
C |
12: 115,556,740 (GRCm39) |
Y114C |
possibly damaging |
Het |
| Irf1 |
C |
G |
11: 53,662,148 (GRCm39) |
L12V |
probably damaging |
Het |
| Itpr3 |
C |
T |
17: 27,310,344 (GRCm39) |
A403V |
probably benign |
Het |
| Ly6g |
C |
T |
15: 75,028,581 (GRCm39) |
P14S |
probably benign |
Het |
| Mfsd13a |
T |
C |
19: 46,363,064 (GRCm39) |
|
probably null |
Het |
| Mme |
T |
A |
3: 63,272,265 (GRCm39) |
C621* |
probably null |
Het |
| Mmp16 |
T |
C |
4: 18,116,123 (GRCm39) |
C576R |
probably damaging |
Het |
| Ngp |
A |
T |
9: 110,249,017 (GRCm39) |
I30F |
probably damaging |
Het |
| Or2q1 |
T |
A |
6: 42,794,930 (GRCm39) |
I175N |
probably damaging |
Het |
| Pdcd6ip |
G |
A |
9: 113,518,762 (GRCm39) |
T166I |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
A |
2: 135,796,916 (GRCm39) |
H440Q |
probably benign |
Het |
| Ppl |
A |
G |
16: 4,905,181 (GRCm39) |
S1705P |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,746,266 (GRCm39) |
F3831S |
probably damaging |
Het |
| Serpine2 |
A |
C |
1: 79,799,287 (GRCm39) |
|
probably null |
Het |
| Skor2 |
T |
A |
18: 76,950,389 (GRCm39) |
W906R |
probably damaging |
Het |
| Tle6 |
G |
A |
10: 81,427,810 (GRCm39) |
H482Y |
probably damaging |
Het |
| Ufl1 |
T |
A |
4: 25,262,238 (GRCm39) |
D336V |
probably damaging |
Het |
| Vav1 |
T |
C |
17: 57,634,660 (GRCm39) |
F832L |
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 |
|
|
R4540:Arrdc3
|
UTSW |
13 |
81,038,790 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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'- ACAGACAGTTCAACATGCTAATGG -3'
(R):5'- AGCACATTACTCATTTGCTTGTGTG -3'
Sequencing Primer
(F):5'- GTTCAACATGCTAATGGTTTATTCTG -3'
(R):5'- GCTTGTGTGCTCTATTTCTACTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation