Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01630:Arrb2'

92902

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arrb2

Ensembl Gene

ENSMUSG00000060216

Gene Name

arrestin, beta 2

Synonyms

beta-arrestin-2, Arr3, beta-arrestin2, beta arr2, arrestin 3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01630

Quality Score

Status

Chromosome

Chromosomal Location

70323461-70331654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70327697 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q91YI4

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	4	83	6.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143232

Predicted Effect

probably benign
Transcript: ENSMUST00000150076

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,069,171 (GRCm39)	T207A	possibly damaging	Het
Ak8	T	A	2: 28,602,291 (GRCm39)	M75K	probably benign	Het
Aldh1a7	A	T	19: 20,673,693 (GRCm39)		probably benign	Het
Ankrd34c	G	A	9: 89,611,879 (GRCm39)	T154I	probably damaging	Het
Atp2a1	A	G	7: 126,049,437 (GRCm39)	V535A	probably benign	Het
Cckbr	G	T	7: 105,083,293 (GRCm39)	W165C	probably damaging	Het
Col12a1	A	T	9: 79,564,648 (GRCm39)	H1677Q	probably damaging	Het
Fancd2	T	C	6: 113,540,085 (GRCm39)	F658S	probably damaging	Het
Gm5581	A	T	6: 131,145,259 (GRCm39)		noncoding transcript	Het
H2-M3	A	G	17: 37,581,548 (GRCm39)	E70G	possibly damaging	Het
Hltf	A	G	3: 20,137,068 (GRCm39)		probably benign	Het
Ighv1-24	C	A	12: 114,736,673 (GRCm39)	V76F	probably benign	Het
Igkv1-110	A	T	6: 68,248,145 (GRCm39)	R85W	probably damaging	Het
Kif9	A	C	9: 110,314,138 (GRCm39)	R43S	probably benign	Het
Klf11	T	C	12: 24,710,368 (GRCm39)	I472T	probably benign	Het
Napsa	A	G	7: 44,236,089 (GRCm39)	Y376C	probably damaging	Het
Notch2	C	T	3: 98,053,934 (GRCm39)	A2199V	possibly damaging	Het
Or10a5	A	T	7: 106,636,318 (GRCm39)		probably benign	Het
Or1e30	A	G	11: 73,678,687 (GRCm39)	K308E	probably benign	Het
Pcnt	T	A	10: 76,256,080 (GRCm39)	D720V	probably damaging	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Ptk6	T	C	2: 180,838,859 (GRCm39)	E298G	probably damaging	Het
Rbm27	T	A	18: 42,434,905 (GRCm39)	L323H	probably damaging	Het
Sall3	A	G	18: 81,014,484 (GRCm39)	L1076P	probably benign	Het
Sprr2h	A	G	3: 92,294,258 (GRCm39)	N35S	unknown	Het
Susd1	T	C	4: 59,365,817 (GRCm39)	D412G	possibly damaging	Het
Ugdh	T	A	5: 65,574,248 (GRCm39)	M432L	probably benign	Het
Uggt2	C	T	14: 119,280,184 (GRCm39)	V765I	probably benign	Het
Unc13d	T	C	11: 115,964,692 (GRCm39)	Q258R	probably benign	Het
Wdfy3	A	T	5: 102,055,354 (GRCm39)	F1572Y	probably benign	Het
Xpo1	A	G	11: 23,235,846 (GRCm39)	T645A	probably benign	Het
Zer1	A	G	2: 29,991,843 (GRCm39)	V659A	probably damaging	Het

Other mutations in Arrb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6800:Arrb2	UTSW	11	70,328,142 (GRCm39)	nonsense	probably null
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

Posted On

2013-12-09