Incidental Mutation 'R8144:Arrb1'
ID 643839
Institutional Source Beutler Lab
Gene Symbol Arrb1
Ensembl Gene ENSMUSG00000018909
Gene Name arrestin, beta 1
Synonyms beta-arrestin1, 1200006I17Rik
MMRRC Submission 067572-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8144 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 99184673-99255978 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 99247659 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000162290
SMART Domains Protein: ENSMUSP00000125056
Gene: ENSMUSG00000018909

DomainStartEndE-ValueType
Pfam:Arrestin_C 2 89 1.9e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000179755
SMART Domains Protein: ENSMUSP00000136963
Gene: ENSMUSG00000018909

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.4%
  • 10x: 98.0%
  • 20x: 90.8%
Validation Efficiency 96% (50/52)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A C 9: 57,166,388 (GRCm39) probably benign Het
A2ml1 T C 6: 128,546,962 (GRCm39) D389G possibly damaging Het
Acy1 A T 9: 106,313,319 (GRCm39) probably null Het
Adcy2 G A 13: 68,882,754 (GRCm39) Q328* probably null Het
Arhgef40 T A 14: 52,235,632 (GRCm39) V1171E probably damaging Het
Atxn1l G A 8: 110,459,233 (GRCm39) A343V probably benign Het
C3 A T 17: 57,533,276 (GRCm39) V109E probably damaging Het
Clptm1 A T 7: 19,367,827 (GRCm39) V595E possibly damaging Het
Cpne6 T C 14: 55,750,066 (GRCm39) C66R possibly damaging Het
Dhrs3 T C 4: 144,646,474 (GRCm39) S175P probably damaging Het
Eif2b1 A T 5: 124,711,208 (GRCm39) M187K probably damaging Het
Eln CTCCAGCTCCGAT C 5: 134,758,003 (GRCm39) probably benign Het
Evc2 T C 5: 37,537,911 (GRCm39) L533P probably damaging Het
Fam221b T G 4: 43,665,465 (GRCm39) Q331P probably damaging Het
Fam221b G T 4: 43,665,466 (GRCm39) Q331K probably benign Het
Golga3 T C 5: 110,333,745 (GRCm39) V127A probably damaging Het
Itsn1 C T 16: 91,708,893 (GRCm39) P1719L unknown Het
Lars1 T G 18: 42,351,591 (GRCm39) H871P probably damaging Het
Mamdc4 A T 2: 25,457,019 (GRCm39) V590E probably damaging Het
Mdga2 A G 12: 66,702,037 (GRCm39) I457T probably damaging Het
Morc2a T C 11: 3,634,039 (GRCm39) V717A probably benign Het
Or1p1c C A 11: 74,160,384 (GRCm39) H56Q probably damaging Het
Or8d2b A T 9: 38,788,662 (GRCm39) L63F probably damaging Het
Pank4 A T 4: 155,054,537 (GRCm39) Q170L probably benign Het
Pde4dip G T 3: 97,622,742 (GRCm39) A1489D probably damaging Het
Pde8b A T 13: 95,359,278 (GRCm39) I15N probably damaging Het
Pex16 A C 2: 92,205,985 (GRCm39) E26A probably damaging Het
Poglut2 A G 1: 44,149,966 (GRCm39) Y408H probably damaging Het
Polq C T 16: 36,849,846 (GRCm39) P367S probably benign Het
Polr1a T A 6: 71,927,600 (GRCm39) V817E probably benign Het
Pthlh T C 6: 147,158,663 (GRCm39) D99G probably damaging Het
Rasgrp4 A T 7: 28,848,542 (GRCm39) S556C probably damaging Het
Rhobtb1 G T 10: 69,125,388 (GRCm39) V653L possibly damaging Het
Rin2 G A 2: 145,664,225 (GRCm39) R33Q probably benign Het
Rmc1 A T 18: 12,318,704 (GRCm39) probably null Het
Sh3rf2 C T 18: 42,274,124 (GRCm39) T430I probably benign Het
Slc14a2 A G 18: 78,227,759 (GRCm39) probably null Het
Slc39a8 C T 3: 135,590,404 (GRCm39) Q366* probably null Het
Spata31h1 A T 10: 82,130,433 (GRCm39) L859* probably null Het
Tagln3 G T 16: 45,544,554 (GRCm39) A39D probably benign Het
Tfdp1 T A 8: 13,423,015 (GRCm39) C307S probably benign Het
Tlr11 T C 14: 50,599,945 (GRCm39) S644P probably damaging Het
Tnpo3 T C 6: 29,558,761 (GRCm39) D723G probably benign Het
Xpo5 A G 17: 46,519,145 (GRCm39) N195D probably benign Het
Zfp11 T C 5: 129,733,694 (GRCm39) Y589C possibly damaging Het
Zfp712 T C 13: 67,189,172 (GRCm39) T452A probably benign Het
Other mutations in Arrb1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGGACAGCTCCTGAAACCTG -3'
(R):5'- ACTCTGGGCTGGAGGTTAAC -3'

Sequencing Primer
(F):5'- AGCTCCTGAAACCTGTGGGTG -3'
(R):5'- GCTGGAGGTTAACCCAGAAAG -3'
Posted On 2020-08-28