Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02550:Arrb2'

298021

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 #

IGL02550

Quality Score

Status

Chromosome

Chromosomal Location

70323461-70331654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70327696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 120 (I120T)

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: I120T

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078065
Gene: ENSMUSG00000060216
AA Change: I120T

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 damaging
Transcript: ENSMUST00000084954
AA Change: I105T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000082018
Gene: ENSMUSG00000060216
AA Change: I105T

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: I120T

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099623
Gene: ENSMUSG00000060216
AA Change: I120T

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: I120T

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099624
Gene: ENSMUSG00000060216
AA Change: I120T

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: I120T

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104208
Gene: ENSMUSG00000060216
AA Change: I120T

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: I30T

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136978
Gene: ENSMUSG00000060216
AA Change: I30T

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: ENSMUST00000138006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144454

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,884,325 (GRCm39)		probably null	Het
Acer3	G	A	7: 97,873,185 (GRCm39)	T171I	probably benign	Het
Acsm2	C	T	7: 119,172,507 (GRCm39)	P117S	probably damaging	Het
Anxa2	A	G	9: 69,374,588 (GRCm39)	S22G	probably benign	Het
Atp11a	G	T	8: 12,866,997 (GRCm39)	K141N	possibly damaging	Het
Casd1	T	C	6: 4,642,009 (GRCm39)	V762A	probably benign	Het
Ccdc61	A	T	7: 18,627,227 (GRCm39)	S48T	probably benign	Het
Cntn2	T	C	1: 132,456,801 (GRCm39)	M82V	probably null	Het
Cobll1	A	G	2: 64,938,207 (GRCm39)	S359P	probably damaging	Het
Ctnnbl1	C	A	2: 157,726,055 (GRCm39)	D465E	probably benign	Het
Def6	A	T	17: 28,447,235 (GRCm39)	E622V	probably benign	Het
Dmgdh	T	C	13: 93,854,083 (GRCm39)	Y678H	probably damaging	Het
Dock9	A	T	14: 121,935,724 (GRCm39)	M1K	probably null	Het
Esyt1	T	C	10: 128,357,962 (GRCm39)	K216E	probably damaging	Het
Fhod3	A	G	18: 25,156,017 (GRCm39)	D545G	probably benign	Het
Galnt12	A	T	4: 47,104,126 (GRCm39)	D128V	possibly damaging	Het
Gm1110	C	T	9: 26,793,130 (GRCm39)	V549I	probably benign	Het
Gm7361	A	G	5: 26,466,120 (GRCm39)	I161V	possibly damaging	Het
Gsn	T	C	2: 35,172,619 (GRCm39)		probably benign	Het
Gvin3	A	T	7: 106,200,846 (GRCm39)		noncoding transcript	Het
Il16	T	A	7: 83,323,704 (GRCm39)	Q282L	possibly damaging	Het
Il3ra	A	G	14: 14,348,055 (GRCm38)	D67G	probably benign	Het
Insrr	T	C	3: 87,711,805 (GRCm39)	L515P	probably damaging	Het
Jhy	A	G	9: 40,828,466 (GRCm39)	F480S	probably benign	Het
Klc4	C	A	17: 46,947,836 (GRCm39)		probably null	Het
Klhl12	G	T	1: 134,395,443 (GRCm39)	C135F	possibly damaging	Het
Ly6m	T	G	15: 74,752,604 (GRCm39)	H24P	probably damaging	Het
Mboat7	G	T	7: 3,686,905 (GRCm39)		probably null	Het
Myo1f	G	A	17: 33,807,116 (GRCm39)	D522N	probably damaging	Het
Myo1f	A	G	17: 33,799,124 (GRCm39)		probably benign	Het
Nbea	C	A	3: 55,926,835 (GRCm39)	M789I	probably damaging	Het
Ncapd2	T	C	6: 125,154,410 (GRCm39)	D602G	probably benign	Het
Ncaph2	A	T	15: 89,254,064 (GRCm39)	K344*	probably null	Het
Nek2	A	G	1: 191,554,371 (GRCm39)	Y70C	probably damaging	Het
Or2t1	T	C	14: 14,328,423 (GRCm38)	L104P	possibly damaging	Het
Or4k35	T	A	2: 111,100,349 (GRCm39)	D121V	probably damaging	Het
Or4k37	T	C	2: 111,158,845 (GRCm39)	L27P	probably damaging	Het
Or5ak22	G	A	2: 85,230,166 (GRCm39)	A237V	probably damaging	Het
Or7e166	C	A	9: 19,624,343 (GRCm39)	F73L	possibly damaging	Het
Or8g35	T	A	9: 39,381,842 (GRCm39)	Y60F	probably benign	Het
Plcb3	T	A	19: 6,937,544 (GRCm39)	K625*	probably null	Het
Plrg1	T	C	3: 82,968,430 (GRCm39)		probably null	Het
Ptpn12	A	G	5: 21,203,137 (GRCm39)	V547A	probably benign	Het
Ralgapb	A	G	2: 158,290,331 (GRCm39)	D748G	probably damaging	Het
Rcbtb2	A	G	14: 73,399,459 (GRCm39)	E41G	probably damaging	Het
Rela	G	T	19: 5,691,534 (GRCm39)	R236L	possibly damaging	Het
Rps6kc1	A	G	1: 190,604,059 (GRCm39)	S188P	probably damaging	Het
Sipa1l1	A	T	12: 82,487,723 (GRCm39)	K1666*	probably null	Het
Slco1a1	C	T	6: 141,889,191 (GRCm39)	M40I	probably benign	Het
Smarca4	C	A	9: 21,597,418 (GRCm39)	P1391Q	probably benign	Het
Stra6	A	G	9: 58,057,366 (GRCm39)	N392S	possibly damaging	Het
Syt4	A	G	18: 31,577,246 (GRCm39)	I36T	probably damaging	Het
Tgfbr2	A	T	9: 115,939,197 (GRCm39)	M235K	probably benign	Het
Tmem87a	T	A	2: 120,204,966 (GRCm39)		probably null	Het
Tmf1	T	C	6: 97,135,522 (GRCm39)	D918G	probably benign	Het
Tnfaip2	A	G	12: 111,412,535 (GRCm39)	Y312C	probably damaging	Het
Usp47	C	T	7: 111,703,561 (GRCm39)	R1178C	probably damaging	Het
Vmn2r95	T	A	17: 18,671,994 (GRCm39)	I577N	probably damaging	Het
Vps13b	T	C	15: 35,572,242 (GRCm39)	V953A	probably benign	Het
Wasl	A	G	6: 24,633,883 (GRCm39)	F127S	probably damaging	Het
Wdr1	C	T	5: 38,698,206 (GRCm39)	V192I	probably damaging	Het
Wnt9a	C	T	11: 59,221,744 (GRCm39)	T214I	probably damaging	Het
Xpo5	A	G	17: 46,540,255 (GRCm39)	D693G	probably benign	Het
Zan	A	G	5: 137,385,301 (GRCm39)	L5044P	unknown	Het
Zhx3	T	C	2: 160,623,216 (GRCm39)	N317S	probably damaging	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
IGL02484:Arrb2	APN	11	70,330,300 (GRCm39)	missense	probably damaging	0.99
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