Incidental Mutation 'IGL01100:Arrb1'
ID51535
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arrb1
Ensembl Gene ENSMUSG00000018909
Gene Namearrestin, beta 1
Synonymsbeta-arrestin1, 1200006I17Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01100
Quality Score
Status
Chromosome7
Chromosomal Location99535466-99606771 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to T at 99587213 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032995] [ENSMUST00000098266] [ENSMUST00000161525] [ENSMUST00000162404] [ENSMUST00000179755]
Predicted Effect probably null
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 null
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 noncoding transcript
Transcript: ENSMUST00000161268
Predicted Effect probably null
Transcript: ENSMUST00000161525
SMART Domains Protein: ENSMUSP00000124483
Gene: ENSMUSG00000018909

DomainStartEndE-ValueType
Pfam:Arrestin_N 55 136 7.3e-17 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 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
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,274,673 probably null Het
Abca8a C T 11: 110,058,423 probably null Het
Acad11 A G 9: 104,076,408 T32A probably damaging Het
Ak7 T A 12: 105,713,574 N122K probably benign Het
Csde1 C A 3: 103,040,525 R132S possibly damaging Het
Emilin1 A G 5: 30,918,404 H663R probably benign Het
Etaa1 A G 11: 17,952,576 probably null Het
Fat3 A T 9: 16,375,228 F1000I probably damaging Het
Foxj2 T C 6: 122,828,391 L74P probably damaging Het
Gas6 C T 8: 13,475,118 V289M probably benign Het
Gm10801 A T 2: 98,663,983 Y135F probably benign Het
Ihh C T 1: 74,946,442 A295T probably damaging Het
Ip6k2 G T 9: 108,805,744 S305I probably damaging Het
Kcnk2 A G 1: 189,339,936 V65A probably damaging Het
Kif26b G A 1: 178,917,244 C1635Y probably benign Het
Klhdc4 G A 8: 121,821,843 Q44* probably null Het
Madd C A 2: 91,158,040 R1216L probably damaging Het
Myo15 T A 11: 60,511,158 C3076S probably damaging Het
Olfr365 A T 2: 37,201,640 H133L possibly damaging Het
Olfr670 T A 7: 104,959,995 I246F probably benign Het
Polq C A 16: 37,061,112 P934T probably benign Het
Prkaa1 A T 15: 5,174,318 K227M probably damaging Het
Psap G A 10: 60,299,929 G388S probably benign Het
Repin1 A G 6: 48,596,905 E200G probably damaging Het
Samd9l C A 6: 3,375,863 S466I possibly damaging Het
Slc5a3 A G 16: 92,079,222 probably benign Het
Smg9 G A 7: 24,416,951 V314M probably damaging Het
Tktl1 G A X: 74,200,626 R352H probably benign Het
Ube2z A G 11: 96,063,023 V123A probably damaging Het
Vmn1r176 A T 7: 23,835,624 F35I probably benign Het
Zdhhc18 A T 4: 133,612,958 Y293N probably damaging Het
Other mutations in Arrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0032:Arrb1 UTSW 7 99582265 missense probably damaging 1.00
R0269:Arrb1 UTSW 7 99594677 missense probably damaging 1.00
R0540:Arrb1 UTSW 7 99588196 critical splice donor site probably null
R0607:Arrb1 UTSW 7 99588196 critical splice donor site probably null
R0617:Arrb1 UTSW 7 99594677 missense probably damaging 1.00
R0811:Arrb1 UTSW 7 99598501 missense probably benign 0.00
R0812:Arrb1 UTSW 7 99598501 missense probably benign 0.00
R1523:Arrb1 UTSW 7 99594665 missense probably damaging 1.00
R1899:Arrb1 UTSW 7 99582297 splice site probably benign
R4410:Arrb1 UTSW 7 99598296 critical splice acceptor site probably benign
R6746:Arrb1 UTSW 7 99601150 missense probably benign 0.26
R6996:Arrb1 UTSW 7 99591362 missense probably benign 0.01
R7736:Arrb1 UTSW 7 99539774 missense unknown
Posted On2013-06-21