Incidental Mutation 'R8780:Arrb1'
| ID |
670206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arrb1
|
| Ensembl Gene |
ENSMUSG00000018909 |
| Gene Name |
arrestin, beta 1 |
| Synonyms |
beta-arrestin1, 1200006I17Rik |
| MMRRC Submission |
068604-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8780 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
99184673-99255978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99240568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 194
(D194G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032995]
[ENSMUST00000098266]
[ENSMUST00000161525]
[ENSMUST00000162404]
[ENSMUST00000179755]
|
| AlphaFold |
Q8BWG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032995
AA Change: D194G
PolyPhen 2
Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000032995
Gene: ENSMUSG00000018909
AA Change: D194G
| 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
AA Change: D194G
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095866
Gene: ENSMUSG00000018909
AA Change: D194G
| 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 |
probably benign
Transcript: ENSMUST00000161525
|
| SMART Domains |
Protein: ENSMUSP00000124483
Gene: ENSMUSG00000018909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
55 |
136 |
7.3e-17 |
PFAM |
|
| 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 |
probably benign
Transcript: ENSMUST00000162404
|
| SMART Domains |
Protein: ENSMUSP00000124351
Gene: ENSMUSG00000018909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
36 |
118 |
1.7e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179755
AA Change: D194G
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000136963
Gene: ENSMUSG00000018909
AA Change: D194G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (38/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
A |
G |
11: 105,888,364 (GRCm39) |
D358G |
probably damaging |
Het |
| Actmap |
T |
C |
7: 26,900,503 (GRCm39) |
S161P |
probably benign |
Het |
| Adgrd1 |
G |
A |
5: 129,174,138 (GRCm39) |
|
probably benign |
Het |
| Aff4 |
C |
A |
11: 53,271,444 (GRCm39) |
T327K |
probably damaging |
Het |
| Ajap1 |
A |
G |
4: 153,470,961 (GRCm39) |
V282A |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,680,979 (GRCm39) |
N836S |
probably damaging |
Het |
| C1ql3 |
A |
G |
2: 13,015,567 (GRCm39) |
V31A |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,896,692 (GRCm39) |
T1530A |
probably damaging |
Het |
| Cenpc1 |
A |
T |
5: 86,164,209 (GRCm39) |
I804K |
probably damaging |
Het |
| Chmp2b |
G |
A |
16: 65,359,422 (GRCm39) |
|
probably benign |
Het |
| Chrm5 |
T |
A |
2: 112,310,453 (GRCm39) |
E221V |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,878,796 (GRCm39) |
H120Q |
probably damaging |
Het |
| Esp16 |
C |
T |
17: 39,850,729 (GRCm39) |
A36V |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,682,308 (GRCm39) |
S283T |
probably benign |
Het |
| Hipk3 |
A |
G |
2: 104,264,179 (GRCm39) |
L773S |
probably damaging |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Morn3 |
A |
G |
5: 123,175,825 (GRCm39) |
W188R |
probably damaging |
Het |
| Msantd2 |
T |
G |
9: 37,434,798 (GRCm39) |
L547R |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Obi1 |
A |
T |
14: 104,717,082 (GRCm39) |
C430* |
probably null |
Het |
| Or4a15 |
A |
T |
2: 89,193,652 (GRCm39) |
N40K |
probably damaging |
Het |
| Or7e166 |
T |
C |
9: 19,624,653 (GRCm39) |
F177L |
possibly damaging |
Het |
| Pcdhga5 |
G |
A |
18: 37,828,826 (GRCm39) |
V425I |
probably benign |
Het |
| Pdxk |
T |
A |
10: 78,283,786 (GRCm39) |
Y136F |
probably benign |
Het |
| Prr14 |
T |
C |
7: 127,075,410 (GRCm39) |
F503L |
probably benign |
Het |
| Prss54 |
T |
C |
8: 96,286,057 (GRCm39) |
I339V |
probably benign |
Het |
| Repin1 |
T |
C |
6: 48,574,073 (GRCm39) |
I334T |
probably damaging |
Het |
| Runx3 |
A |
G |
4: 134,882,720 (GRCm39) |
D152G |
probably damaging |
Het |
| She |
T |
A |
3: 89,739,256 (GRCm39) |
I149N |
probably damaging |
Het |
| Stra6 |
A |
G |
9: 58,042,254 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,063,449 (GRCm39) |
T907A |
probably benign |
Het |
| Syvn1 |
A |
G |
19: 6,100,393 (GRCm39) |
D288G |
probably damaging |
Het |
| Tacc1 |
T |
C |
8: 25,672,077 (GRCm39) |
S384G |
probably benign |
Het |
| Tmc8 |
ACTTCCT |
ACT |
11: 117,681,558 (GRCm39) |
|
probably null |
Het |
| Trhr |
T |
C |
15: 44,061,149 (GRCm39) |
I223T |
possibly damaging |
Het |
| Vmn2r45 |
A |
G |
7: 8,484,371 (GRCm39) |
I478T |
possibly damaging |
Het |
| Zbtb3 |
G |
T |
19: 8,781,173 (GRCm39) |
R262M |
possibly damaging |
Het |
| Zfp516 |
T |
C |
18: 83,006,080 (GRCm39) |
S995P |
probably benign |
Het |
| Zfp985 |
A |
G |
4: 147,668,412 (GRCm39) |
I427V |
possibly damaging |
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 |
|
|
R4410:Arrb1
|
UTSW |
7 |
99,247,503 (GRCm39) |
critical splice acceptor 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 |
|
|
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'- GCTCAACCTCTGTGATCAGTG -3'
(R):5'- TTCCATAGGTGCACATGCCC -3'
Sequencing Primer
(F):5'- AGCTACAGTAGACTCTTGAACAG -3'
(R):5'- TAGGTGCACATGCCCACCTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation