Incidental Mutation 'R4410:Arrb1'
| ID |
327860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arrb1
|
| Ensembl Gene |
ENSMUSG00000018909 |
| Gene Name |
arrestin, beta 1 |
| Synonyms |
beta-arrestin1, 1200006I17Rik |
| MMRRC Submission |
041692-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4410 (G1)
|
| Quality Score |
146 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
99184673-99255978 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to T
at 99247503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032995]
[ENSMUST00000098266]
[ENSMUST00000179755]
|
| AlphaFold |
Q8BWG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032995
|
| SMART Domains |
Protein: ENSMUSP00000032995
Gene: ENSMUSG00000018909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
18 |
174 |
2.1e-41 |
PFAM |
|
Arrestin_C
|
193 |
348 |
5.34e-38 |
SMART |
|
low complexity region
|
392 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098266
|
| SMART Domains |
Protein: ENSMUSP00000095866
Gene: ENSMUSG00000018909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
18 |
174 |
2.1e-41 |
PFAM |
|
Arrestin_C
|
193 |
356 |
2.53e-39 |
SMART |
|
low complexity region
|
400 |
408 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159642
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162043
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162290
|
| SMART Domains |
Protein: ENSMUSP00000125056
Gene: ENSMUSG00000018909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_C
|
2 |
89 |
1.9e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162933
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179755
|
| SMART Domains |
Protein: ENSMUSP00000136963
Gene: ENSMUSG00000018909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
18 |
174 |
2.2e-43 |
PFAM |
|
Arrestin_C
|
193 |
357 |
1.04e-35 |
SMART |
|
low complexity region
|
401 |
409 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
96% (46/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired quenching of rod photocurrent flash responses and greater sensitivity to beta-receptor agonist-stimulated ventricular ejection fraction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
A |
T |
15: 76,609,712 (GRCm39) |
|
probably benign |
Het |
| Cadps |
A |
G |
14: 12,822,323 (GRCm38) |
M139T |
probably damaging |
Het |
| Casr |
A |
G |
16: 36,320,703 (GRCm39) |
C482R |
probably benign |
Het |
| Cdca4 |
A |
T |
12: 112,785,499 (GRCm39) |
H76Q |
probably benign |
Het |
| Ddias |
A |
G |
7: 92,507,287 (GRCm39) |
L876P |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,976,303 (GRCm39) |
S1249G |
possibly damaging |
Het |
| Dnttip1 |
A |
G |
2: 164,609,739 (GRCm39) |
|
probably benign |
Het |
| Eme2 |
A |
G |
17: 25,112,598 (GRCm39) |
S160P |
probably benign |
Het |
| Fbxw24 |
A |
T |
9: 109,437,256 (GRCm39) |
D210E |
probably damaging |
Het |
| Folr2 |
T |
C |
7: 101,489,881 (GRCm39) |
E129G |
probably damaging |
Het |
| Herc6 |
T |
A |
6: 57,636,664 (GRCm39) |
N793K |
possibly damaging |
Het |
| Iqcg |
T |
G |
16: 32,851,186 (GRCm39) |
K262Q |
possibly damaging |
Het |
| Lhfpl3 |
A |
G |
5: 22,980,690 (GRCm39) |
|
probably benign |
Het |
| Lmod2 |
A |
C |
6: 24,604,629 (GRCm39) |
S535R |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,555,094 (GRCm39) |
S342C |
possibly damaging |
Het |
| Lrrn3 |
T |
A |
12: 41,502,583 (GRCm39) |
Y578F |
possibly damaging |
Het |
| Map3k4 |
T |
A |
17: 12,467,885 (GRCm39) |
R1050W |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,217,576 (GRCm39) |
T2301S |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,372,702 (GRCm39) |
E4048G |
probably damaging |
Het |
| Myh3 |
G |
C |
11: 66,975,858 (GRCm39) |
E297Q |
possibly damaging |
Het |
| Nkain3 |
A |
G |
4: 20,778,284 (GRCm39) |
V11A |
probably benign |
Het |
| Or4c102 |
G |
A |
2: 88,422,765 (GRCm39) |
V206I |
probably benign |
Het |
| P3h2 |
G |
C |
16: 25,924,040 (GRCm39) |
R132G |
possibly damaging |
Het |
| Pals2 |
C |
T |
6: 50,175,248 (GRCm39) |
Q520* |
probably null |
Het |
| Phgdh |
A |
G |
3: 98,221,591 (GRCm39) |
M447T |
probably benign |
Het |
| Pmfbp1 |
G |
A |
8: 110,258,695 (GRCm39) |
A667T |
probably benign |
Het |
| Pramel41 |
A |
T |
5: 94,593,720 (GRCm39) |
Q15L |
probably benign |
Het |
| Psmd2 |
T |
G |
16: 20,473,776 (GRCm39) |
C230G |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc37a3 |
T |
A |
6: 39,315,747 (GRCm39) |
Y443F |
probably benign |
Het |
| Sorl1 |
C |
A |
9: 41,915,288 (GRCm39) |
G1314* |
probably null |
Het |
| Spag7 |
T |
C |
11: 70,555,688 (GRCm39) |
D83G |
probably damaging |
Het |
| St7 |
C |
T |
6: 17,854,932 (GRCm39) |
R267* |
probably null |
Het |
| Syne2 |
C |
T |
12: 76,141,167 (GRCm39) |
S99L |
probably damaging |
Het |
| Tacc2 |
T |
G |
7: 130,343,941 (GRCm39) |
S2533R |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Uaca |
T |
G |
9: 60,777,173 (GRCm39) |
V518G |
probably damaging |
Het |
| Usp43 |
T |
C |
11: 67,746,716 (GRCm39) |
E992G |
probably benign |
Het |
| Vmn1r55 |
A |
G |
7: 5,150,075 (GRCm39) |
V116A |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,047,543 (GRCm39) |
T844M |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,911,320 (GRCm39) |
M904K |
probably damaging |
Het |
| Zbtb39 |
A |
G |
10: 127,578,696 (GRCm39) |
I423M |
possibly damaging |
Het |
| Zmym1 |
A |
T |
4: 126,941,897 (GRCm39) |
C830* |
probably null |
Het |
|
| Other mutations in Arrb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01100:Arrb1
|
APN |
7 |
99,236,420 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0032:Arrb1
|
UTSW |
7 |
99,231,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0269:Arrb1
|
UTSW |
7 |
99,243,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:Arrb1
|
UTSW |
7 |
99,237,403 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0607:Arrb1
|
UTSW |
7 |
99,237,403 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0617:Arrb1
|
UTSW |
7 |
99,243,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0811:Arrb1
|
UTSW |
7 |
99,247,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0812:Arrb1
|
UTSW |
7 |
99,247,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1523:Arrb1
|
UTSW |
7 |
99,243,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Arrb1
|
UTSW |
7 |
99,231,504 (GRCm39) |
splice site |
probably benign |
|
|
R6746:Arrb1
|
UTSW |
7 |
99,250,357 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6996:Arrb1
|
UTSW |
7 |
99,240,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7736:Arrb1
|
UTSW |
7 |
99,188,981 (GRCm39) |
missense |
unknown |
|
|
R8144:Arrb1
|
UTSW |
7 |
99,247,659 (GRCm39) |
splice site |
probably null |
|
|
R8780:Arrb1
|
UTSW |
7 |
99,240,568 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9099:Arrb1
|
UTSW |
7 |
99,243,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9156:Arrb1
|
UTSW |
7 |
99,237,280 (GRCm39) |
missense |
|
|
|
R9346:Arrb1
|
UTSW |
7 |
99,242,207 (GRCm39) |
nonsense |
probably null |
|
|
R9393:Arrb1
|
UTSW |
7 |
99,238,891 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCTCAACCTGTGTACCAG -3'
(R):5'- AGGGTAAAAGGCAGCTCCAC -3'
Sequencing Primer
(F):5'- CTGTGTACCAGGGACAGTGTCAG -3'
(R):5'- TCCACGGCCACATCACTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation