Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02484:Arrb2'

295375

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 #

IGL02484

Quality Score

Status

Chromosome

Chromosomal Location

70323461-70331654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70330300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 308 (V308E)

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: V308E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078065
Gene: ENSMUSG00000060216
AA Change: V308E

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

probably benign
Transcript: ENSMUST00000084954
AA Change: V293E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000082018
Gene: ENSMUSG00000060216
AA Change: V293E

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: V308E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099623
Gene: ENSMUSG00000060216
AA Change: V308E

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: V308E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099624
Gene: ENSMUSG00000060216
AA Change: V308E

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: V308E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104208
Gene: ENSMUSG00000060216
AA Change: V308E

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

probably benign
Transcript: ENSMUST00000124943

SMART Domains

Protein: ENSMUSP00000136978
Gene: ENSMUSG00000060216

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143232

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184275

Predicted Effect

probably benign
Transcript: ENSMUST00000128748

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	C	7: 29,262,777 (GRCm39)		noncoding transcript	Het
Araf	A	G	X: 20,720,148 (GRCm39)		probably benign	Het
Asap3	A	G	4: 135,956,768 (GRCm39)		probably benign	Het
Astn2	G	A	4: 65,910,516 (GRCm39)		probably benign	Het
Cactin	T	A	10: 81,158,808 (GRCm39)	I258N	probably benign	Het
Calhm6	T	C	10: 34,002,400 (GRCm39)	T228A	probably benign	Het
Catsperg1	T	C	7: 28,910,345 (GRCm39)		probably benign	Het
Ccna1	C	T	3: 54,955,915 (GRCm39)	D146N	probably benign	Het
Chrna3	T	C	9: 54,922,821 (GRCm39)	Y329C	probably damaging	Het
Ctps2	G	A	X: 161,693,005 (GRCm39)	G56D	probably damaging	Het
Cyp4b1	T	C	4: 115,504,754 (GRCm39)	D44G	probably benign	Het
D3Ertd751e	A	G	3: 41,708,155 (GRCm39)		probably null	Het
Daxx	T	C	17: 34,131,216 (GRCm39)	V381A	probably damaging	Het
Dhx37	T	A	5: 125,496,401 (GRCm39)	I714F	possibly damaging	Het
Dnah7b	T	C	1: 46,234,478 (GRCm39)	V1470A	probably damaging	Het
Efl1	T	C	7: 82,332,247 (GRCm39)	I297T	probably damaging	Het
Fnd3c2	A	T	X: 105,289,092 (GRCm39)	H442Q	probably damaging	Het
Glp2r	A	C	11: 67,630,992 (GRCm39)	V126G	possibly damaging	Het
Gm5699	G	T	1: 31,037,843 (GRCm39)		noncoding transcript	Het
Gpt2	A	G	8: 86,242,862 (GRCm39)	D298G	probably damaging	Het
Gse1	G	T	8: 121,302,001 (GRCm39)		probably benign	Het
Hand1	T	C	11: 57,722,420 (GRCm39)	T65A	probably benign	Het
Ints8	G	A	4: 11,208,834 (GRCm39)	Q955*	probably null	Het
Lrguk	C	T	6: 34,069,726 (GRCm39)	P534S	probably damaging	Het
Lrp6	A	G	6: 134,518,886 (GRCm39)	F60L	probably benign	Het
Mamld1	T	C	X: 70,162,258 (GRCm39)	I423T	possibly damaging	Het
Mrpl22	G	A	11: 58,063,888 (GRCm39)	S36N	possibly damaging	Het
Mug2	A	G	6: 122,049,712 (GRCm39)	E915G	probably damaging	Het
Oosp2	T	C	19: 11,628,847 (GRCm39)	T85A	probably benign	Het
Or5b94	T	C	19: 12,652,223 (GRCm39)	F218S	possibly damaging	Het
Or5p68	C	T	7: 107,945,813 (GRCm39)	R125Q	probably damaging	Het
Pde4c	T	A	8: 71,200,701 (GRCm39)		probably benign	Het
Pdxdc1	T	C	16: 13,693,945 (GRCm39)	E159G	possibly damaging	Het
Poln	T	C	5: 34,286,721 (GRCm39)	E149G	probably damaging	Het
Pou5f2	T	G	13: 78,174,024 (GRCm39)	L322R	probably damaging	Het
Ppm1k	A	T	6: 57,501,997 (GRCm39)	S55R	possibly damaging	Het
Ptges2	T	A	2: 32,287,719 (GRCm39)	I149N	probably damaging	Het
Pus7l	A	G	15: 94,427,369 (GRCm39)	V471A	possibly damaging	Het
Raet1e	A	T	10: 22,056,666 (GRCm39)	M81L	probably benign	Het
Sipa1l3	A	G	7: 29,098,956 (GRCm39)	S438P	probably damaging	Het
Skint5	T	A	4: 113,799,750 (GRCm39)	K126*	probably null	Het
Stfa2	T	C	16: 36,225,569 (GRCm39)	T37A	probably damaging	Het
Ttll12	A	G	15: 83,465,897 (GRCm39)	I433T	possibly damaging	Het
Vmn2r32	C	T	7: 7,467,116 (GRCm39)	G804D	probably damaging	Het
Zc3h14	A	G	12: 98,740,560 (GRCm39)	T84A	probably benign	Het

Other mutations in Arrb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:Arrb2	APN	11	70,327,697 (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

2015-04-16