Incidental Mutation 'R6746:Arrb1'
ID 532837
Institutional Source Beutler Lab
Gene Symbol Arrb1
Ensembl Gene ENSMUSG00000018909
Gene Name arrestin, beta 1
Synonyms beta-arrestin1, 1200006I17Rik
MMRRC Submission 044863-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6746 (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 99250357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 392 (K392E)
Ref Sequence ENSEMBL: ENSMUSP00000032995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032995] [ENSMUST00000098266] [ENSMUST00000179755]
AlphaFold Q8BWG8
Predicted Effect probably benign
Transcript: ENSMUST00000032995
AA Change: K392E

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032995
Gene: ENSMUSG00000018909
AA Change: K392E

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
AA Change: K400E

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000095866
Gene: ENSMUSG00000018909
AA Change: K400E

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 benign
Transcript: ENSMUST00000179755
AA Change: K401E

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136963
Gene: ENSMUSG00000018909
AA Change: K401E

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 0.0607 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,565,195 (GRCm39) L79* probably null Het
Acot3 A G 12: 84,100,248 (GRCm39) N8S probably benign Het
Adora2a T C 10: 75,169,442 (GRCm39) V302A probably benign Het
Anpep A C 7: 79,488,933 (GRCm39) probably null Het
Atp8a1 A T 5: 67,908,392 (GRCm39) N444K probably benign Het
Bltp3b T A 10: 89,623,020 (GRCm39) N298K probably benign Het
Brinp2 C T 1: 158,094,160 (GRCm39) G181R probably benign Het
Cacna1g A T 11: 94,300,253 (GRCm39) C2184* probably null Het
Cacna1h C T 17: 25,600,524 (GRCm39) A1606T probably damaging Het
Ccdc30 T C 4: 119,213,915 (GRCm39) T205A probably benign Het
Celsr1 A G 15: 85,915,696 (GRCm39) I759T probably damaging Het
Chaf1a A G 17: 56,370,404 (GRCm39) D623G possibly damaging Het
Col6a3 G T 1: 90,706,767 (GRCm39) N2115K unknown Het
Dync1h1 A T 12: 110,618,087 (GRCm39) T3209S probably damaging Het
Erich6 T C 3: 58,523,987 (GRCm39) D629G possibly damaging Het
Fahd1 G T 17: 25,068,915 (GRCm39) A54E probably damaging Het
Flrt3 C T 2: 140,501,945 (GRCm39) R561Q probably damaging Het
Grm6 A T 11: 50,747,790 (GRCm39) D334V probably damaging Het
Helb A T 10: 119,941,373 (GRCm39) D438E probably damaging Het
Hmgcs1 T C 13: 120,156,585 (GRCm39) probably null Het
Hnf4g C A 3: 3,722,170 (GRCm39) Y441* probably null Het
Hspa13 A T 16: 75,561,925 (GRCm39) N91K possibly damaging Het
Ilvbl T C 10: 78,413,057 (GRCm39) I193T possibly damaging Het
Itga7 T C 10: 128,785,341 (GRCm39) V848A probably benign Het
Kash5 C T 7: 44,849,735 (GRCm39) V63I probably benign Het
Lpin1 A G 12: 16,615,529 (GRCm39) M341T probably benign Het
Lypd5 G T 7: 24,052,531 (GRCm39) probably null Het
Mrgprb1 A C 7: 48,097,645 (GRCm39) V89G possibly damaging Het
Nsun7 T C 5: 66,441,080 (GRCm39) probably null Het
Oasl1 T A 5: 115,075,242 (GRCm39) V434E probably damaging Het
Or2ak6 G A 11: 58,593,369 (GRCm39) V281I probably benign Het
Or7g22 A G 9: 19,048,774 (GRCm39) M162V probably benign Het
Or8k16 T C 2: 85,519,952 (GRCm39) Y60H probably damaging Het
Otor T A 2: 142,921,955 (GRCm39) probably null Het
Pik3cg G A 12: 32,244,757 (GRCm39) T899M probably damaging Het
Plaat5 A G 19: 7,590,695 (GRCm39) D74G probably benign Het
Pld2 C A 11: 70,431,933 (GRCm39) L52M probably damaging Het
Pon3 A T 6: 5,230,786 (GRCm39) M247K possibly damaging Het
Ppfia2 C A 10: 106,742,319 (GRCm39) Y1037* probably null Het
Ppm1m A T 9: 106,075,351 (GRCm39) C99* probably null Het
Prss44 A T 9: 110,644,361 (GRCm39) *145C probably null Het
Ptpro T A 6: 137,371,821 (GRCm39) Y613N probably damaging Het
Ralgapb T G 2: 158,318,056 (GRCm39) V866G probably damaging Het
Rassf6 C A 5: 90,757,633 (GRCm39) R109L possibly damaging Het
Rbm4b A C 19: 4,812,031 (GRCm39) T147P probably benign Het
Rpl7l1 T C 17: 47,090,322 (GRCm39) K104R probably benign Het
Ryr1 A T 7: 28,816,829 (GRCm39) I69N possibly damaging Het
Scd1 G T 19: 44,394,927 (GRCm39) F99L probably benign Het
Semp2l1 A T 1: 32,585,844 (GRCm39) I22N probably benign Het
Spint2 A T 7: 28,958,848 (GRCm39) S66T probably benign Het
Tarm1 T A 7: 3,550,978 (GRCm39) I2F probably benign Het
Tenm4 T C 7: 96,542,067 (GRCm39) V1860A probably damaging Het
Usp38 A G 8: 81,740,920 (GRCm39) I49T possibly damaging Het
Vars2 A G 17: 35,971,294 (GRCm39) probably null Het
Vmn2r27 T G 6: 124,177,552 (GRCm39) H484P possibly damaging Het
Wdr35 T A 12: 9,053,982 (GRCm39) probably null Het
Zfp937 A T 2: 150,081,343 (GRCm39) K458* probably null 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
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'- CATCAGTGGGCTTGTAAATGGG -3'
(R):5'- GCCCCTTGGTAGAAACTGGAAG -3'

Sequencing Primer
(F):5'- CTTGTAAATGGGCCAGCCAG -3'
(R):5'- CTTGGTAGAAACTGGAAGAACAAAAG -3'
Posted On 2018-08-29