Incidental Mutation 'R9346:Arrb1'
| ID |
707803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arrb1
|
| Ensembl Gene |
ENSMUSG00000018909 |
| Gene Name |
arrestin, beta 1 |
| Synonyms |
beta-arrestin1, 1200006I17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9346 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
99184673-99255978 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 99242207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 238
(Y238*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032995]
[ENSMUST00000098266]
[ENSMUST00000161525]
[ENSMUST00000162404]
[ENSMUST00000179755]
|
| AlphaFold |
Q8BWG8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032995
AA Change: Y238*
|
| SMART Domains |
Protein: ENSMUSP00000032995
Gene: ENSMUSG00000018909
AA Change: Y238*
| 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 null
Transcript: ENSMUST00000098266
AA Change: Y238*
|
| SMART Domains |
Protein: ENSMUSP00000095866
Gene: ENSMUSG00000018909
AA Change: Y238*
| 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 |
probably null
Transcript: ENSMUST00000179755
AA Change: Y238*
|
| SMART Domains |
Protein: ENSMUSP00000136963
Gene: ENSMUSG00000018909
AA Change: Y238*
| 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 |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (45/45) |
| 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 |
|---|
| 4930438A08Rik |
G |
T |
11: 58,179,095 (GRCm39) |
C143F |
|
Het |
| Adam8 |
T |
C |
7: 139,567,634 (GRCm39) |
I370V |
probably benign |
Het |
| Adamts1 |
T |
A |
16: 85,599,420 (GRCm39) |
D60V |
possibly damaging |
Het |
| Adh5 |
G |
A |
3: 138,157,203 (GRCm39) |
V255I |
probably benign |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,185,792 (GRCm39) |
I37T |
probably benign |
Het |
| Arnt2 |
C |
T |
7: 83,931,321 (GRCm39) |
R383Q |
probably benign |
Het |
| Brdt |
T |
C |
5: 107,524,880 (GRCm39) |
I807T |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,818,880 (GRCm39) |
Q1247L |
possibly damaging |
Het |
| Carmil3 |
T |
C |
14: 55,732,141 (GRCm39) |
Y213H |
probably damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,927,953 (GRCm39) |
T1163S |
probably benign |
Het |
| Cfl1 |
T |
A |
19: 5,543,641 (GRCm39) |
L206Q |
probably benign |
Het |
| Chga |
A |
G |
12: 102,525,548 (GRCm39) |
D63G |
probably damaging |
Het |
| Dennd1a |
T |
C |
2: 37,911,447 (GRCm39) |
D180G |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,577,702 (GRCm39) |
|
probably null |
Het |
| Fam171a2 |
C |
T |
11: 102,328,771 (GRCm39) |
V663M |
possibly damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Gimap9 |
C |
A |
6: 48,654,492 (GRCm39) |
N26K |
probably damaging |
Het |
| Gtf2i |
A |
G |
5: 134,273,663 (GRCm39) |
F769L |
probably damaging |
Het |
| Gtf2i |
G |
T |
5: 134,315,781 (GRCm39) |
H164N |
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,257,439 (GRCm39) |
T797I |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,700,233 (GRCm39) |
S188G |
possibly damaging |
Het |
| Krt82 |
A |
G |
15: 101,458,959 (GRCm39) |
M27T |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,252,204 (GRCm39) |
K216E |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,100,495 (GRCm39) |
Q95R |
probably benign |
Het |
| Or1e1c |
T |
C |
11: 73,266,129 (GRCm39) |
S188P |
probably benign |
Het |
| Or4c102 |
T |
A |
2: 88,423,062 (GRCm39) |
S305T |
probably benign |
Het |
| Pon1 |
C |
A |
6: 5,193,722 (GRCm39) |
V10L |
probably benign |
Het |
| Ptk2b |
T |
A |
14: 66,415,541 (GRCm39) |
N252Y |
possibly damaging |
Het |
| Rad51 |
G |
A |
2: 118,949,093 (GRCm39) |
C31Y |
probably benign |
Het |
| Sbf2 |
A |
G |
7: 109,919,946 (GRCm39) |
F1525L |
probably benign |
Het |
| Sec11a |
T |
C |
7: 80,557,760 (GRCm39) |
D173G |
unknown |
Het |
| Sftpd |
C |
T |
14: 40,896,466 (GRCm39) |
R239H |
probably benign |
Het |
| Shq1 |
T |
A |
6: 100,641,431 (GRCm39) |
Y150F |
probably damaging |
Het |
| Slc39a11 |
A |
G |
11: 113,414,449 (GRCm39) |
V50A |
probably damaging |
Het |
| Snrnp25 |
A |
T |
11: 32,155,622 (GRCm39) |
M1L |
probably benign |
Het |
| Tgm6 |
A |
T |
2: 129,983,776 (GRCm39) |
K312* |
probably null |
Het |
| Tln1 |
C |
A |
4: 43,546,895 (GRCm39) |
R827L |
probably damaging |
Het |
| Trim37 |
A |
T |
11: 87,057,426 (GRCm39) |
|
probably null |
Het |
| Zdhhc13 |
T |
A |
7: 48,472,328 (GRCm39) |
N495K |
probably benign |
Het |
| Zfp280b |
C |
T |
10: 75,875,126 (GRCm39) |
T335I |
possibly damaging |
Het |
| Zfp583 |
T |
A |
7: 6,328,542 (GRCm39) |
T16S |
probably benign |
Het |
| Zgpat |
C |
A |
2: 181,021,844 (GRCm39) |
D423E |
probably benign |
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 |
|
|
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 |
|
|
|
R9393:Arrb1
|
UTSW |
7 |
99,238,891 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTCATAGGCTTTCTGGGC -3'
(R):5'- AGGACATCTCTCTGCAGGTTG -3'
Sequencing Primer
(F):5'- TTTCTGGGCCCTGGACAAG -3'
(R):5'- ACATCTCTCTGCAGGTTGAGAAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation