Incidental Mutation 'IGL01630:Arrb2'
ID92902
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arrb2
Ensembl Gene ENSMUSG00000060216
Gene Namearrestin, beta 2
Synonymsbeta arr2, beta-arrestin-2, beta-arrestin2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01630
Quality Score
Status
Chromosome11
Chromosomal Location70432635-70440828 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70436871 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 120 (I120M)
Ref Sequence ENSEMBL: ENSMUSP00000104208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079056] [ENSMUST00000084954] [ENSMUST00000102563] [ENSMUST00000102564] [ENSMUST00000108568] [ENSMUST00000124943] [ENSMUST00000128748] [ENSMUST00000150076]
Predicted Effect probably damaging
Transcript: ENSMUST00000079056
AA Change: I120M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078065
Gene: ENSMUSG00000060216
AA Change: I120M

DomainStartEndE-ValueType
Pfam:Arrestin_N 19 175 8.3e-37 PFAM
Arrestin_C 195 350 5.2e-37 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000084954
AA Change: I105M

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082018
Gene: ENSMUSG00000060216
AA Change: I105M

DomainStartEndE-ValueType
Pfam:Arrestin_N 36 160 1.7e-25 PFAM
Arrestin_C 180 335 6.53e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102563
AA Change: I120M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099623
Gene: ENSMUSG00000060216
AA Change: I120M

DomainStartEndE-ValueType
Pfam:Arrestin_N 19 175 1.5e-36 PFAM
Arrestin_C 195 350 6.53e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102564
AA Change: I120M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099624
Gene: ENSMUSG00000060216
AA Change: I120M

DomainStartEndE-ValueType
Pfam:Arrestin_N 19 175 1.5e-36 PFAM
Arrestin_C 195 350 6.53e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108568
AA Change: I120M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104208
Gene: ENSMUSG00000060216
AA Change: I120M

DomainStartEndE-ValueType
Pfam:Arrestin_N 19 175 2.6e-34 PFAM
Arrestin_C 195 350 5.1e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124112
Predicted Effect possibly damaging
Transcript: ENSMUST00000124943
AA Change: I30M

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136978
Gene: ENSMUSG00000060216
AA Change: I30M

DomainStartEndE-ValueType
Pfam:Arrestin_N 4 83 6.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125441
Predicted Effect probably benign
Transcript: ENSMUST00000128748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144454
Predicted Effect probably benign
Transcript: ENSMUST00000150076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184275
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 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced morphine analgesia, an enhanced inflammatory response and reduced threshold to lethal endotoxin challenge, and impaired T and B lymphocyte chemotaxis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,161,855 T207A possibly damaging Het
Ak8 T A 2: 28,712,279 M75K probably benign Het
Aldh1a7 A T 19: 20,696,329 probably benign Het
Ankrd34c G A 9: 89,729,826 T154I probably damaging Het
Atp2a1 A G 7: 126,450,265 V535A probably benign Het
Cckbr G T 7: 105,434,086 W165C probably damaging Het
Col12a1 A T 9: 79,657,366 H1677Q probably damaging Het
Fancd2 T C 6: 113,563,124 F658S probably damaging Het
Gm5581 A T 6: 131,168,296 noncoding transcript Het
H2-M3 A G 17: 37,270,657 E70G possibly damaging Het
Hltf A G 3: 20,082,904 probably benign Het
Ighv1-24 C A 12: 114,773,053 V76F probably benign Het
Igkv1-110 A T 6: 68,271,161 R85W probably damaging Het
Kif9 A C 9: 110,485,070 R43S probably benign Het
Klf11 T C 12: 24,660,369 I472T probably benign Het
Napsa A G 7: 44,586,665 Y376C probably damaging Het
Notch2 C T 3: 98,146,618 A2199V possibly damaging Het
Olfr390 A G 11: 73,787,861 K308E probably benign Het
Olfr713 A T 7: 107,037,111 probably benign Het
Pcnt T A 10: 76,420,246 D720V probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptk6 T C 2: 181,197,066 E298G probably damaging Het
Rbm27 T A 18: 42,301,840 L323H probably damaging Het
Sall3 A G 18: 80,971,269 L1076P probably benign Het
Sprr2h A G 3: 92,386,951 N35S unknown Het
Susd1 T C 4: 59,365,817 D412G possibly damaging Het
Ugdh T A 5: 65,416,905 M432L probably benign Het
Uggt2 C T 14: 119,042,772 V765I probably benign Het
Unc13d T C 11: 116,073,866 Q258R probably benign Het
Wdfy3 A T 5: 101,907,488 F1572Y probably benign Het
Xpo1 A G 11: 23,285,846 T645A probably benign Het
Zer1 A G 2: 30,101,831 V659A probably damaging Het
Other mutations in Arrb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02484:Arrb2 APN 11 70439474 missense probably damaging 0.99
IGL02550:Arrb2 APN 11 70436870 missense probably damaging 0.96
IGL03375:Arrb2 APN 11 70436179 missense probably damaging 1.00
FR4340:Arrb2 UTSW 11 70438671 missense probably damaging 1.00
FR4342:Arrb2 UTSW 11 70438671 missense probably damaging 1.00
FR4589:Arrb2 UTSW 11 70438671 missense probably damaging 1.00
R1663:Arrb2 UTSW 11 70437603 missense probably damaging 1.00
R1903:Arrb2 UTSW 11 70437982 missense probably damaging 1.00
R4906:Arrb2 UTSW 11 70439899 missense probably benign 0.20
R5389:Arrb2 UTSW 11 70438658 missense probably damaging 0.97
R6498:Arrb2 UTSW 11 70439549 missense probably benign 0.00
R6800:Arrb2 UTSW 11 70437316 nonsense probably null
R7432:Arrb2 UTSW 11 70437970 missense probably benign 0.00
Posted On2013-12-09