Incidental Mutation 'R6800:Arrb2'
ID 533290
Institutional Source Beutler Lab
Gene Symbol Arrb2
Ensembl Gene ENSMUSG00000060216
Gene Name arrestin, beta 2
Synonyms beta-arrestin-2, Arr3, beta-arrestin2, beta arr2, arrestin 3
MMRRC Submission 044913-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6800 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 70323461-70331654 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 70328142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 52 (G52*)
Ref Sequence ENSEMBL: ENSMUSP00000136978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079056] [ENSMUST00000084954] [ENSMUST00000102563] [ENSMUST00000102564] [ENSMUST00000108568] [ENSMUST00000124943] [ENSMUST00000128748] [ENSMUST00000150076]
AlphaFold Q91YI4
Predicted Effect probably null
Transcript: ENSMUST00000079056
AA Change: G142*
SMART Domains Protein: ENSMUSP00000078065
Gene: ENSMUSG00000060216
AA Change: G142*

DomainStartEndE-ValueType
Pfam:Arrestin_N 19 175 8.3e-37 PFAM
Arrestin_C 195 350 5.2e-37 SMART
Predicted Effect probably null
Transcript: ENSMUST00000084954
AA Change: G127*
SMART Domains Protein: ENSMUSP00000082018
Gene: ENSMUSG00000060216
AA Change: G127*

DomainStartEndE-ValueType
Pfam:Arrestin_N 36 160 1.7e-25 PFAM
Arrestin_C 180 335 6.53e-33 SMART
Predicted Effect probably null
Transcript: ENSMUST00000102563
AA Change: G142*
SMART Domains Protein: ENSMUSP00000099623
Gene: ENSMUSG00000060216
AA Change: G142*

DomainStartEndE-ValueType
Pfam:Arrestin_N 19 175 1.5e-36 PFAM
Arrestin_C 195 350 6.53e-33 SMART
Predicted Effect probably null
Transcript: ENSMUST00000102564
AA Change: G142*
SMART Domains Protein: ENSMUSP00000099624
Gene: ENSMUSG00000060216
AA Change: G142*

DomainStartEndE-ValueType
Pfam:Arrestin_N 19 175 1.5e-36 PFAM
Arrestin_C 195 350 6.53e-33 SMART
Predicted Effect probably null
Transcript: ENSMUST00000108568
AA Change: G142*
SMART Domains Protein: ENSMUSP00000104208
Gene: ENSMUSG00000060216
AA Change: G142*

DomainStartEndE-ValueType
Pfam:Arrestin_N 19 175 2.6e-34 PFAM
Arrestin_C 195 350 5.1e-37 SMART
Predicted Effect probably null
Transcript: ENSMUST00000124943
AA Change: G52*
SMART Domains Protein: ENSMUSP00000136978
Gene: ENSMUSG00000060216
AA Change: G52*

DomainStartEndE-ValueType
Pfam:Arrestin_N 4 83 6.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128748
Predicted Effect probably benign
Transcript: ENSMUST00000150076
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency 97% (66/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik G A 13: 60,992,948 (GRCm39) P244S probably damaging Het
9130023H24Rik C A 7: 127,836,742 (GRCm39) probably benign Het
Acoxl A T 2: 127,852,085 (GRCm39) Q129L probably damaging Het
Akna T C 4: 63,316,268 (GRCm39) T32A probably benign Het
Alox15 C T 11: 70,235,645 (GRCm39) probably null Het
Antxrl T C 14: 33,787,864 (GRCm39) S296P probably damaging Het
Bltp2 T C 11: 78,179,105 (GRCm39) F2091S probably benign Het
Capn2 A T 1: 182,309,045 (GRCm39) I499N probably damaging Het
Cfhr4 T A 1: 139,629,719 (GRCm39) D683V possibly damaging Het
Cspg4b T A 13: 113,504,686 (GRCm39) D396E probably benign Het
Cubn T A 2: 13,326,066 (GRCm39) I2700F probably damaging Het
Cypt4 A T 9: 24,536,965 (GRCm39) N152Y probably benign Het
Dmxl2 T C 9: 54,316,467 (GRCm39) N1640D probably damaging Het
Dnah7b A T 1: 46,379,377 (GRCm39) N3704Y possibly damaging Het
Dnah9 A G 11: 65,963,565 (GRCm39) probably null Het
Elac2 G A 11: 64,890,265 (GRCm39) probably null Het
Erich3 A T 3: 154,433,029 (GRCm39) probably null Het
Espnl T C 1: 91,270,351 (GRCm39) V386A probably damaging Het
Fbxl6 T A 15: 76,422,898 (GRCm39) probably benign Het
Fdps A C 3: 89,008,068 (GRCm39) F17V probably damaging Het
Gigyf2 T C 1: 87,346,898 (GRCm39) I576T possibly damaging Het
Gm20939 A G 17: 95,184,657 (GRCm39) E435G possibly damaging Het
Hivep1 G A 13: 42,310,852 (GRCm39) V1031I probably damaging Het
Hydin T G 8: 111,324,603 (GRCm39) S4655A probably benign Het
Ifrd1 T A 12: 40,273,157 (GRCm39) probably benign Het
Iqgap1 G T 7: 80,378,729 (GRCm39) T1219K possibly damaging Het
Lmtk3 G A 7: 45,443,233 (GRCm39) E639K possibly damaging Het
Map3k5 A G 10: 20,017,326 (GRCm39) *1373W probably null Het
Mia2 G A 12: 59,235,332 (GRCm39) probably null Het
Micu2 T C 14: 58,156,896 (GRCm39) D313G possibly damaging Het
Mrgpra4 A G 7: 47,631,371 (GRCm39) S77P probably damaging Het
Mrpl51 T C 6: 125,169,367 (GRCm39) V17A probably benign Het
Neurod4 A T 10: 130,106,661 (GRCm39) Y204* probably null Het
Or2n1 A G 17: 38,486,013 (GRCm39) I13V probably benign Het
Or56a42-ps1 A T 7: 104,776,217 (GRCm39) V97E probably benign Het
Or5p67 G A 7: 107,922,460 (GRCm39) T141I probably benign Het
Or6c66b A T 10: 129,377,132 (GRCm39) H242L probably damaging Het
Pate2 T C 9: 35,596,941 (GRCm39) probably benign Het
Pcdhgb8 G A 18: 37,896,580 (GRCm39) R550Q probably benign Het
Phldb3 T C 7: 24,323,577 (GRCm39) L437P possibly damaging Het
Pianp C A 6: 124,978,565 (GRCm39) P257T possibly damaging Het
Rbbp6 T A 7: 122,584,287 (GRCm39) H140Q possibly damaging Het
Rfx2 A G 17: 57,087,804 (GRCm39) I529T probably damaging Het
Rnf113a1 A C X: 36,455,840 (GRCm39) T266P probably benign Het
Rp1l1 T C 14: 64,268,599 (GRCm39) I1395T possibly damaging Het
Rps6ka2 A C 17: 7,519,035 (GRCm39) K186Q probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Rtel1 C A 2: 180,964,256 (GRCm39) T85N probably benign Het
Rtn4rl2 T C 2: 84,710,967 (GRCm39) N99S probably damaging Het
Ryr1 C T 7: 28,723,741 (GRCm39) G4106D possibly damaging Het
Scgb2b24 A G 7: 33,437,894 (GRCm39) V71A probably benign Het
Sgip1 A G 4: 102,778,225 (GRCm39) probably benign Het
Slc12a4 G A 8: 106,676,371 (GRCm39) T515I probably damaging Het
Spag1 C T 15: 36,197,895 (GRCm39) R286* probably null Het
Strbp C T 2: 37,515,228 (GRCm39) R266Q probably damaging Het
Strn G T 17: 78,977,787 (GRCm39) probably benign Het
Thnsl2 C A 6: 71,118,264 (GRCm39) V55L probably benign Het
Tmem178b A T 6: 40,231,858 (GRCm39) Q164L unknown Het
Tmprss6 C T 15: 78,324,457 (GRCm39) R786H probably damaging Het
Ttc21a T A 9: 119,770,268 (GRCm39) L113Q possibly damaging Het
Ttc21b T C 2: 66,038,994 (GRCm39) probably null Het
Vmn2r51 T C 7: 9,832,191 (GRCm39) D465G probably damaging Het
Vmp1 A C 11: 86,556,913 (GRCm39) probably null Het
Wdcp T C 12: 4,901,358 (GRCm39) F405L probably damaging Het
Zfhx3 A T 8: 109,676,149 (GRCm39) T2400S probably benign Het
Zfp27 T C 7: 29,593,860 (GRCm39) T702A probably benign Het
Zfp87 T C 13: 74,520,080 (GRCm39) S333G probably benign Het
Other mutations in Arrb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01630:Arrb2 APN 11 70,327,697 (GRCm39) missense probably damaging 0.99
IGL02484:Arrb2 APN 11 70,330,300 (GRCm39) missense probably damaging 0.99
IGL02550:Arrb2 APN 11 70,327,696 (GRCm39) missense probably damaging 0.96
IGL03375:Arrb2 APN 11 70,327,005 (GRCm39) missense probably damaging 1.00
FR4340:Arrb2 UTSW 11 70,329,497 (GRCm39) missense probably damaging 1.00
FR4342:Arrb2 UTSW 11 70,329,497 (GRCm39) missense probably damaging 1.00
FR4589:Arrb2 UTSW 11 70,329,497 (GRCm39) missense probably damaging 1.00
R1663:Arrb2 UTSW 11 70,328,429 (GRCm39) missense probably damaging 1.00
R1903:Arrb2 UTSW 11 70,328,808 (GRCm39) missense probably damaging 1.00
R4906:Arrb2 UTSW 11 70,330,725 (GRCm39) missense probably benign 0.20
R5389:Arrb2 UTSW 11 70,329,484 (GRCm39) missense probably damaging 0.97
R6498:Arrb2 UTSW 11 70,330,375 (GRCm39) missense probably benign 0.00
R7432:Arrb2 UTSW 11 70,328,796 (GRCm39) missense probably benign 0.00
R9342:Arrb2 UTSW 11 70,327,463 (GRCm39) missense probably benign 0.19
R9655:Arrb2 UTSW 11 70,331,073 (GRCm39) missense probably null 0.09
Predicted Primers PCR Primer
(F):5'- TCTGACCTGCATGTACCTGG -3'
(R):5'- AGCCAATTCAGATTCCTACCTC -3'

Sequencing Primer
(F):5'- TCTGTGCACTGCCATGAG -3'
(R):5'- AGATTCCTACCTCCCACTGGG -3'
Posted On 2018-09-12