Incidental Mutation 'R6996:Arrb1'
ID 544203
Institutional Source Beutler Lab
Gene Symbol Arrb1
Ensembl Gene ENSMUSG00000018909
Gene Name arrestin, beta 1
Synonyms beta-arrestin1, 1200006I17Rik
MMRRC Submission 045102-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6996 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 99184673-99255978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 99240569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 194 (D194E)
Ref Sequence ENSEMBL: ENSMUSP00000136963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032995] [ENSMUST00000098266] [ENSMUST00000161525] [ENSMUST00000162404] [ENSMUST00000179755]
AlphaFold Q8BWG8
Predicted Effect probably benign
Transcript: ENSMUST00000032995
AA Change: D194E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000032995
Gene: ENSMUSG00000018909
AA Change: D194E

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: D194E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000095866
Gene: ENSMUSG00000018909
AA Change: D194E

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: ENSMUST00000161525
SMART Domains Protein: ENSMUSP00000124483
Gene: ENSMUSG00000018909

DomainStartEndE-ValueType
Pfam:Arrestin_N 55 136 7.3e-17 PFAM
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: ENSMUST00000162404
SMART Domains Protein: ENSMUSP00000124351
Gene: ENSMUSG00000018909

DomainStartEndE-ValueType
Pfam:Arrestin_N 36 118 1.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179755
AA Change: D194E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000136963
Gene: ENSMUSG00000018909
AA Change: D194E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G A 8: 25,296,517 (GRCm39) S310L probably damaging Het
Adamts16 C T 13: 70,946,157 (GRCm39) probably null Het
Atp1a3 T C 7: 24,697,051 (GRCm39) D217G probably damaging Het
Bcar3 A G 3: 122,302,033 (GRCm39) I123V possibly damaging Het
Bdp1 G A 13: 100,180,321 (GRCm39) L1833F probably damaging Het
Cdc14a T C 3: 116,122,355 (GRCm39) Y155C probably damaging Het
Cdo1 C A 18: 46,853,380 (GRCm39) R126M possibly damaging Het
Cfap99 G T 5: 34,484,604 (GRCm39) R627L probably damaging Het
Efr3a T A 15: 65,720,030 (GRCm39) L369* probably null Het
Erich6 A C 3: 58,543,516 (GRCm39) F185V probably damaging Het
Fam186a T C 15: 99,853,374 (GRCm39) D122G unknown Het
Fank1 A G 7: 133,478,627 (GRCm39) I230M possibly damaging Het
Flg2 A T 3: 93,109,977 (GRCm39) E668D unknown Het
Flg2 A C 3: 93,110,256 (GRCm39) R761S unknown Het
Gabrr1 T C 4: 33,158,157 (GRCm39) L260P probably damaging Het
Gfm2 G A 13: 97,285,868 (GRCm39) R119K probably damaging Het
Gm14226 A G 2: 154,866,357 (GRCm39) T105A probably benign Het
Gm14496 A G 2: 181,637,997 (GRCm39) N357S probably damaging Het
Gm5916 G A 9: 36,039,935 (GRCm39) L18F probably benign Het
Golm1 A T 13: 59,790,058 (GRCm39) N247K probably benign Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Greb1 C T 12: 16,773,355 (GRCm39) A240T probably benign Het
Gtf3c6 T C 10: 40,125,774 (GRCm39) M148V probably benign Het
Guca1a T C 17: 47,706,102 (GRCm39) S126G probably benign Het
Hacl1 A T 14: 31,337,380 (GRCm39) I393N possibly damaging Het
Hddc3 A G 7: 79,993,498 (GRCm39) D68G possibly damaging Het
Hsfy2 T C 1: 56,675,569 (GRCm39) T323A possibly damaging Het
Kcng2 T C 18: 80,366,358 (GRCm39) probably benign Het
Kdm2a G T 19: 4,395,669 (GRCm39) P321T probably benign Het
Krt31 A G 11: 99,938,558 (GRCm39) V345A probably benign Het
Lrrc37 A T 11: 103,509,583 (GRCm39) L795* probably null Het
Mettl1 T C 10: 126,880,887 (GRCm39) S193P probably benign Het
Mme G A 3: 63,253,523 (GRCm39) D456N possibly damaging Het
Mmrn1 A G 6: 60,954,367 (GRCm39) T883A probably benign Het
Mphosph10 C G 7: 64,038,669 (GRCm39) E293Q probably benign Het
Muc16 C A 9: 18,557,193 (GRCm39) K3033N unknown Het
Myo16 C T 8: 10,619,496 (GRCm39) T1349M probably damaging Het
Myo5c T C 9: 75,157,746 (GRCm39) I233T probably benign Het
Or4p4b-ps1 A G 2: 88,454,189 (GRCm39) T181A unknown Het
Or52a33 T G 7: 103,289,065 (GRCm39) N94T probably benign Het
Or52ac1 A T 7: 104,246,018 (GRCm39) F123L probably benign Het
Or5b111 A T 19: 13,291,036 (GRCm39) S204R probably benign Het
Or5h22 A G 16: 58,894,555 (GRCm39) M296T probably benign Het
Or6c2 T A 10: 129,362,732 (GRCm39) V212E probably damaging Het
Or7c70 C A 10: 78,683,351 (GRCm39) V133L probably benign Het
Oxct2b A G 4: 123,011,480 (GRCm39) I467V probably benign Het
Parp1 A T 1: 180,414,936 (GRCm39) N425Y possibly damaging Het
Pcdhgc3 T A 18: 37,939,656 (GRCm39) V19D possibly damaging Het
Pfkl T A 10: 77,833,423 (GRCm39) I260F probably damaging Het
Pkd1l1 C T 11: 8,799,046 (GRCm39) G1789R probably damaging Het
Pla1a G A 16: 38,217,830 (GRCm39) A386V probably benign Het
Pml A G 9: 58,142,169 (GRCm39) L221P probably damaging Het
Rcn2 C T 9: 55,964,845 (GRCm39) Q268* probably null Het
Reps1 T A 10: 17,969,603 (GRCm39) D235E probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Sap30bp A G 11: 115,824,314 (GRCm39) probably benign Het
Scn1a A T 2: 66,118,075 (GRCm39) S1433T probably damaging Het
Sde2 T C 1: 180,678,754 (GRCm39) V6A probably benign Het
Sdk1 C A 5: 142,197,769 (GRCm39) R2141S probably benign Het
Setd2 T C 9: 110,379,640 (GRCm39) S1152P probably damaging Het
Slc26a2 C T 18: 61,334,926 (GRCm39) V176I probably damaging Het
Snx7 A G 3: 117,640,281 (GRCm39) I76T possibly damaging Het
Specc1l C A 10: 75,082,113 (GRCm39) A520D probably benign Het
Spop A G 11: 95,362,136 (GRCm39) T56A possibly damaging Het
Syne2 T A 12: 76,074,786 (GRCm39) D4576E probably damaging Het
Tas2r134 A C 2: 51,517,601 (GRCm39) M27L probably benign Het
Tecta A C 9: 42,278,082 (GRCm39) I1142S probably benign Het
Timm44 T C 8: 4,316,611 (GRCm39) D311G possibly damaging Het
Tmem123 C G 9: 7,791,071 (GRCm39) T124R possibly damaging Het
Tmem184b A T 15: 79,246,959 (GRCm39) L370Q probably benign Het
Trim25 T A 11: 88,890,329 (GRCm39) N5K probably benign Het
Vmn2r93 A G 17: 18,524,903 (GRCm39) Y187C probably damaging Het
Vpreb1a A G 16: 16,686,678 (GRCm39) Y71H probably damaging Het
Vpreb1b T C 16: 17,798,441 (GRCm39) S5P probably benign Het
Xpo7 A T 14: 70,906,888 (GRCm39) C939S probably benign Het
Zfp78 C A 7: 6,381,764 (GRCm39) S271R probably benign Het
Zic5 A T 14: 122,702,080 (GRCm39) M217K 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
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'- TCTGTGATCAGTGGGCAATG -3'
(R):5'- TTGCTCCTGTTCCATAGGTG -3'

Sequencing Primer
(F):5'- AGCTACAGTAGACTCTTGAACAG -3'
(R):5'- GTTCCATAGGTGCACATGCC -3'
Posted On 2019-05-13