Mutagenetix > Incidental Mutation

Incidental Mutation 'R9099:Arrb1'

691541

Institutional Source

Beutler Lab

Gene Symbol

Arrb1

Ensembl Gene

ENSMUSG00000018909

Gene Name

arrestin, beta 1

Synonyms

beta-arrestin1, 1200006I17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9099 (G1)

Quality Score

217.009

Status

Validated

Chromosome

Chromosomal Location

99184673-99255978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99243836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 262 (V262A)

Ref Sequence

ENSEMBL: ENSMUSP00000095866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032995] [ENSMUST00000098266] [ENSMUST00000179755]

AlphaFold

Q8BWG8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032995
AA Change: V262A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032995
Gene: ENSMUSG00000018909
AA Change: V262A

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	18	174	2.1e-41	PFAM
Arrestin_C	193	348	5.34e-38	SMART
low complexity region	392	400	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098266
AA Change: V262A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095866
Gene: ENSMUSG00000018909
AA Change: V262A

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	18	174	2.1e-41	PFAM
Arrestin_C	193	356	2.53e-39	SMART
low complexity region	400	408	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125056
Gene: ENSMUSG00000018909
AA Change: V2A

Domain	Start	End	E-Value	Type
Pfam:Arrestin_C	2	89	1.9e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179755
AA Change: V262A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136963
Gene: ENSMUSG00000018909
AA Change: V262A

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	18	174	2.2e-43	PFAM
Arrestin_C	193	357	1.04e-35	SMART
low complexity region	401	409	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

94% (61/65)

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 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired quenching of rod photocurrent flash responses and greater sensitivity to beta-receptor agonist-stimulated ventricular ejection fraction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,871,708 (GRCm39)	M90K	probably damaging	Het
Actn2	T	C	13: 12,303,516 (GRCm39)	D428G	probably damaging	Het
Bok	A	G	1: 93,622,661 (GRCm39)	I102V		Het
C87436	T	A	6: 86,439,567 (GRCm39)	F419L	probably damaging	Het
Capn15	A	G	17: 26,192,141 (GRCm39)	C34R	probably benign	Het
Ccdc8	T	A	7: 16,728,800 (GRCm39)	Y96*	probably null	Het
Cd274	T	A	19: 29,357,771 (GRCm39)	C154*	probably null	Het
Cfap251	A	G	5: 123,418,082 (GRCm39)		probably benign	Het
Ckap4	A	T	10: 84,369,402 (GRCm39)	L110Q	probably damaging	Het
Col26a1	A	T	5: 136,777,202 (GRCm39)	D335E	probably benign	Het
Crybg1	C	T	10: 43,874,844 (GRCm39)	V755I	probably benign	Het
Dhx38	A	T	8: 110,282,783 (GRCm39)	Y628N	probably damaging	Het
Dnah12	A	T	14: 26,492,325 (GRCm39)	K1155M	probably benign	Het
Ei24	A	G	9: 36,697,270 (GRCm39)	F153L	probably damaging	Het
Erg	T	A	16: 95,178,188 (GRCm39)	E246D	probably benign	Het
Exoc6b	T	C	6: 84,982,000 (GRCm39)	N99D	possibly damaging	Het
Fam222b	G	T	11: 78,046,020 (GRCm39)	R527L	probably damaging	Het
Fam83h	T	C	15: 75,875,135 (GRCm39)	Y734C	probably damaging	Het
Fbxo43	T	C	15: 36,162,619 (GRCm39)	E196G	possibly damaging	Het
Gata5	G	A	2: 179,976,131 (GRCm39)	P11L	possibly damaging	Het
Gbp3	A	T	3: 142,271,048 (GRCm39)	S151C	probably benign	Het
Gli3	T	C	13: 15,901,320 (GRCm39)	L1569P	probably damaging	Het
Helz	G	A	11: 107,523,041 (GRCm39)	V742M	probably damaging	Het
Ifi27l2b	A	T	12: 103,418,114 (GRCm39)	N175K	unknown	Het
Itga1	A	T	13: 115,185,856 (GRCm39)	Y49N	probably damaging	Het
Kcnk2	T	C	1: 188,991,072 (GRCm39)	T167A	probably damaging	Het
Kirrel2	T	A	7: 30,147,642 (GRCm39)	T669S	probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lrit2	A	T	14: 36,790,812 (GRCm39)	T164S	possibly damaging	Het
Lrriq1	A	G	10: 103,051,864 (GRCm39)	V296A	probably damaging	Het
Malsu1	C	T	6: 49,050,731 (GRCm39)		probably benign	Het
Moxd1	G	A	10: 24,155,762 (GRCm39)	V289I	probably damaging	Het
Nfs1	C	T	2: 155,968,934 (GRCm39)	G380E	probably damaging	Het
Nol4l	C	A	2: 153,312,630 (GRCm39)	R226L	probably damaging	Het
Nsmaf	CAAACTTTTAAACTT	CAAACTT	4: 6,416,543 (GRCm39)		probably null	Het
Nup98	T	A	7: 101,844,173 (GRCm39)	N54I	probably damaging	Het
Or7g21	C	T	9: 19,032,890 (GRCm39)	P210L	probably benign	Het
Or8g22	A	T	9: 38,958,026 (GRCm39)	C230S	probably benign	Het
Or8g53	A	G	9: 39,683,514 (GRCm39)	I194T		Het
Otoa	T	A	7: 120,739,055 (GRCm39)	F755I	probably benign	Het
P4htm	A	T	9: 108,460,911 (GRCm39)	M187K	probably benign	Het
Phldb3	C	T	7: 24,323,727 (GRCm39)	R453C	probably benign	Het
Pkd1l1	C	T	11: 8,922,986 (GRCm39)	A94T		Het
Pkp1	A	G	1: 135,805,429 (GRCm39)	F669S	probably benign	Het
Prl8a2	C	G	13: 27,536,793 (GRCm39)	Y138*	probably null	Het
Prl8a2	T	A	13: 27,536,794 (GRCm39)	Y139N	probably benign	Het
Rtn4r	T	A	16: 17,969,068 (GRCm39)	N165K	probably benign	Het
Scaper	G	T	9: 55,669,616 (GRCm39)	D353E	probably damaging	Het
Scn4a	G	T	11: 106,211,000 (GRCm39)	D1672E	probably damaging	Het
She	A	G	3: 89,739,078 (GRCm39)	S90G	probably benign	Het
Shmt2	A	T	10: 127,355,962 (GRCm39)	D130E	possibly damaging	Het
Slc2a12	T	A	10: 22,569,923 (GRCm39)	I538K	possibly damaging	Het
Snx29	T	A	16: 11,478,435 (GRCm39)	W322R	probably damaging	Het
Spp1	A	G	5: 104,588,387 (GRCm39)	D263G	probably benign	Het
Srek1ip1	T	C	13: 104,973,964 (GRCm39)	S124P	possibly damaging	Het
Tcp10b	C	T	17: 13,280,656 (GRCm39)		probably benign	Het
Thap12	T	C	7: 98,364,600 (GRCm39)	F256S	probably damaging	Het
Tpte	T	C	8: 22,845,497 (GRCm39)	Y516H		Het
Trem1	C	A	17: 48,544,271 (GRCm39)	Q99K	possibly damaging	Het
Umodl1	C	T	17: 31,178,147 (GRCm39)	P41L	probably benign	Het
Upp2	T	C	2: 58,457,542 (GRCm39)		probably null	Het
Zfand1	A	T	3: 10,406,148 (GRCm39)	M181K	probably damaging	Het
Zfp292	T	C	4: 34,809,228 (GRCm39)	E1277G	possibly damaging	Het
Zfp458	G	T	13: 67,405,696 (GRCm39)	P248T	probably damaging	Het
Zfp667	T	A	7: 6,308,322 (GRCm39)	M330K	probably benign	Het
Zfp827	A	G	8: 79,917,107 (GRCm39)	T561A		Het
Zfp947	C	T	17: 22,364,855 (GRCm39)	G273D	probably benign	Het

Other mutations in Arrb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Arrb1	APN	7	99,236,420 (GRCm39)	critical splice acceptor site	probably null
R0032:Arrb1	UTSW	7	99,231,472 (GRCm39)	missense	probably damaging	1.00
R0269:Arrb1	UTSW	7	99,243,884 (GRCm39)	missense	probably damaging	1.00
R0540:Arrb1	UTSW	7	99,237,403 (GRCm39)	critical splice donor site	probably null
R0607:Arrb1	UTSW	7	99,237,403 (GRCm39)	critical splice donor site	probably null
R0617:Arrb1	UTSW	7	99,243,884 (GRCm39)	missense	probably damaging	1.00
R0811:Arrb1	UTSW	7	99,247,708 (GRCm39)	missense	probably benign	0.00
R0812:Arrb1	UTSW	7	99,247,708 (GRCm39)	missense	probably benign	0.00
R1523:Arrb1	UTSW	7	99,243,872 (GRCm39)	missense	probably damaging	1.00
R1899:Arrb1	UTSW	7	99,231,504 (GRCm39)	splice site	probably benign
R4410:Arrb1	UTSW	7	99,247,503 (GRCm39)	critical splice acceptor site	probably benign
R6746:Arrb1	UTSW	7	99,250,357 (GRCm39)	missense	probably benign	0.26
R6996:Arrb1	UTSW	7	99,240,569 (GRCm39)	missense	probably benign	0.01
R7736:Arrb1	UTSW	7	99,188,981 (GRCm39)	missense	unknown
R8144:Arrb1	UTSW	7	99,247,659 (GRCm39)	splice site	probably null
R8780:Arrb1	UTSW	7	99,240,568 (GRCm39)	missense	probably benign	0.26
R9156:Arrb1	UTSW	7	99,237,280 (GRCm39)	missense
R9346:Arrb1	UTSW	7	99,242,207 (GRCm39)	nonsense	probably null
R9393:Arrb1	UTSW	7	99,238,891 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGTGACCATGCCTAGTTTAG -3'
(R):5'- CACTCATAGCATCTGGGTCTTAG -3'

Sequencing Primer
(F):5'- CTCTTTCCCATGGCAGTGG -3'
(R):5'- TCTTAGGGGCGGGCTCTC -3'

Posted On

2021-12-30