Mutagenetix > Incidental Mutations

Incidental Mutation 'R4780:Add3'

366466

Institutional Source

Beutler Lab

Gene Symbol

Add3

Ensembl Gene

ENSMUSG00000025026

Gene Name

adducin 3 (gamma)

Synonyms

MMRRC Submission

041993-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53140445-53247399 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53234792 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 325 (A325E)

Ref Sequence

ENSEMBL: ENSMUSP00000107370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025999] [ENSMUST00000050096] [ENSMUST00000111741]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025999
AA Change: A325E

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025999
Gene: ENSMUSG00000025026
AA Change: A325E

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	101	114	N/A	INTRINSIC
Aldolase_II	139	321	1.62e-46	SMART
coiled coil region	556	582	N/A	INTRINSIC
low complexity region	590	605	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC
low complexity region	673	703	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050096
AA Change: A325E

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052245
Gene: ENSMUSG00000025026
AA Change: A325E

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	101	114	N/A	INTRINSIC
Aldolase_II	139	321	1.62e-46	SMART
low complexity region	618	630	N/A	INTRINSIC
low complexity region	641	671	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111741
AA Change: A325E

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107370
Gene: ENSMUSG00000025026
AA Change: A325E

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	101	114	N/A	INTRINSIC
Aldolase_II	139	321	1.62e-46	SMART
coiled coil region	556	582	N/A	INTRINSIC
low complexity region	590	605	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC
low complexity region	673	703	N/A	INTRINSIC

Meta Mutation Damage Score

0.1379

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (107/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal blood pressure and show no significant alterations in red blood cell or platelet structure and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,065,370	N107D	probably benign	Het
4833413E03Rik	A	C	17: 31,558,764		noncoding transcript	Het
4931429L15Rik	G	T	9: 46,308,846	H129Q	possibly damaging	Het
A730018C14Rik	A	G	12: 112,415,635		noncoding transcript	Het
Abcc6	T	A	7: 45,996,691	K791N	probably benign	Het
Adcy4	T	G	14: 55,775,036	Q550P	probably benign	Het
Agbl4	T	A	4: 111,657,331	I513N	possibly damaging	Het
Agfg1	C	A	1: 82,886,387	T392K	probably damaging	Het
Akna	C	A	4: 63,379,254	M854I	probably benign	Het
Ankrd44	T	C	1: 54,763,757	N194S	probably benign	Het
Anks1b	A	G	10: 89,873,732	K21E	probably damaging	Het
Ap1s3	A	G	1: 79,609,172	F154L	probably benign	Het
Apbb2	T	A	5: 66,362,817	N477I	probably damaging	Het
Apobec3	T	C	15: 79,899,024	C101R	possibly damaging	Het
Arnt	G	T	3: 95,488,385	V410F	probably damaging	Het
Arsg	G	A	11: 109,534,013	R270H	possibly damaging	Het
B3gnt7	T	A	1: 86,305,270	D79E	probably damaging	Het
BC067074	A	G	13: 113,317,858	Y146C	probably damaging	Het
Cd44	G	T	2: 102,861,565	A126D	probably damaging	Het
Cd69	A	G	6: 129,271,355	I56T	probably damaging	Het
Cep120	G	A	18: 53,724,536	P286S	probably benign	Het
Ces2a	T	C	8: 104,737,208	F184S	probably damaging	Het
Chrng	A	G	1: 87,207,524	N185S	probably damaging	Het
Cldn6	A	T	17: 23,681,247	M62L	probably benign	Het
Cntn6	T	A	6: 104,845,784	N765K	probably damaging	Het
Ctnnal1	T	C	4: 56,847,857	D94G	probably damaging	Het
Cyp2c69	T	C	19: 39,877,594	N185S	probably benign	Het
Depdc1a	A	G	3: 159,526,706	N698S	probably benign	Het
Dnah2	A	T	11: 69,473,871	I1986N	probably damaging	Het
Dnah7b	A	G	1: 46,353,014	E3845G	probably benign	Het
Dpysl3	C	T	18: 43,354,802	V159I	probably benign	Het
Dync1h1	T	C	12: 110,661,196	Y4047H	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057	P297L	probably benign	Het
E2f5	A	G	3: 14,587,319	T72A	probably benign	Het
Ephb6	G	T	6: 41,616,139	R437L	probably damaging	Het
Erbb4	T	C	1: 68,298,314	H615R	probably damaging	Het
Erbin	T	C	13: 103,884,206	T82A	probably damaging	Het
Eri2	T	C	7: 119,785,680	N533D	probably benign	Het
Fkbp9	A	G	6: 56,850,716	N174S	probably damaging	Het
Fsbp	C	T	4: 11,583,709	T136I	possibly damaging	Het
Fubp3	C	A	2: 31,583,211	D47E	probably damaging	Het
Gm21850	G	A	2: 154,056,499		noncoding transcript	Het
Gm5141	T	A	13: 62,774,950	Y135F	unknown	Het
Gm7353	T	A	7: 3,110,725		noncoding transcript	Het
Gm8765	C	A	13: 50,701,080	S251R	probably damaging	Het
Gm9925	T	C	18: 74,065,273		probably benign	Het
Greb1l	T	C	18: 10,541,792	S1180P	probably benign	Het
Hist1h2ag	G	A	13: 22,042,909	Q7*	probably null	Het
Kiz	A	G	2: 146,889,246	T192A	possibly damaging	Het
Klhl24	T	A	16: 20,106,958	C79S	probably damaging	Het
Map3k11	A	G	19: 5,690,938	H231R	probably damaging	Het
Mbd4	C	A	6: 115,849,384	R194S	probably benign	Het
Mettl21e	A	C	1: 44,211,143	S34R	probably benign	Het
Mrps5	T	C	2: 127,598,241	V245A	probably benign	Het
Mtrf1	T	C	14: 79,401,688	Y87H	probably benign	Het
Myh15	T	C	16: 49,120,057	I790T	probably benign	Het
Necab1	T	G	4: 14,989,248	I176L	probably benign	Het
Nfkb2	T	A	19: 46,309,922	L555Q	probably damaging	Het
Nhlrc3	T	A	3: 53,458,567	E168D	probably benign	Het
Nlrp5	T	A	7: 23,435,778	C949S	probably damaging	Het
Nup155	C	A	15: 8,157,703	A1372E	probably benign	Het
Nynrin	G	T	14: 55,863,263	R170L	probably damaging	Het
Ogfrl1	T	A	1: 23,370,321	N275Y	probably damaging	Het
Olfr1110	C	T	2: 87,135,877	S148N	probably damaging	Het
Olfr1302	A	G	2: 111,780,845	D175G	probably damaging	Het
Olfr1480	A	G	19: 13,529,955	N138S	probably benign	Het
Olfr912	A	G	9: 38,581,969	T231A	possibly damaging	Het
Olr1	A	T	6: 129,488,876	S56T	probably damaging	Het
Ovol2	A	T	2: 144,331,283		probably benign	Het
Pcdha6	A	T	18: 36,969,853	I700F	probably damaging	Het
Prkcz	C	T	4: 155,289,702	V86M	probably damaging	Het
Ptpn13	A	G	5: 103,586,773	T2124A	probably benign	Het
Ranbp3	G	T	17: 56,673,346		probably benign	Het
Rapgef2	A	G	3: 79,169,769		probably benign	Het
Rbl1	A	G	2: 157,174,804	V625A	probably benign	Het
Rbm38	G	T	2: 173,022,151	G38C	probably damaging	Het
Reg1	T	G	6: 78,426,350	F7C	possibly damaging	Het
Retnlg	A	T	16: 48,874,334	Q115L	possibly damaging	Het
Rhobtb1	G	A	10: 69,270,153	V183I	probably benign	Het
Rims1	T	C	1: 22,291,105	Q1186R	probably damaging	Het
Ryr1	A	G	7: 29,095,097	F1246L	possibly damaging	Het
Samm50	A	G	15: 84,210,610	N401S	possibly damaging	Het
Scn3a	T	A	2: 65,506,193	I690F	probably damaging	Het
Sdk1	A	G	5: 141,959,238	D304G	probably damaging	Het
Skint6	T	C	4: 113,236,397	Y183C	probably damaging	Het
Slamf1	A	T	1: 171,777,261	T200S	probably benign	Het
Slc34a2	C	T	5: 53,069,451	R639C	probably damaging	Het
Smap1	A	T	1: 23,853,436	M149K	probably benign	Het
Sorcs1	T	C	19: 50,143,981		probably benign	Het
Sp140	T	A	1: 85,610,828	D95E	possibly damaging	Het
Spata13	G	A	14: 60,753,907	W366*	probably null	Het
Strip1	G	A	3: 107,626,998	T136I	probably benign	Het
Tacr1	A	T	6: 82,557,072	T360S	probably benign	Het
Tbc1d14	T	A	5: 36,571,256		probably benign	Het
Tcaf2	T	C	6: 42,628,062	Y596C	probably damaging	Het
Tspoap1	C	T	11: 87,778,443	T1454I	possibly damaging	Het
Ttc30a2	A	C	2: 75,977,576	C197W	probably benign	Het
Ttn	A	T	2: 76,914,583	M5374K	probably benign	Het
Uts2r	G	A	11: 121,160,879	V190I	possibly damaging	Het
Vmn1r181	A	G	7: 23,984,583	T158A	possibly damaging	Het
Wdr35	A	T	12: 9,018,150	T778S	probably benign	Het
Xrn1	A	T	9: 95,974,744		probably benign	Het
Zfp35	A	T	18: 24,003,269	K223N	probably damaging	Het
Zfp764	T	C	7: 127,404,771	Q396R	probably benign	Het
Zfyve1	T	C	12: 83,558,647	Y11C	probably damaging	Het

Other mutations in Add3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01744:Add3	APN	19	53239430	missense	probably damaging	1.00
IGL02177:Add3	APN	19	53216892	nonsense	probably null
IGL03093:Add3	APN	19	53231207	missense	probably damaging	1.00
IGL03047:Add3	UTSW	19	53242591	missense	probably benign	0.00
PIT4243001:Add3	UTSW	19	53236690	missense	probably benign	0.00
PIT4366001:Add3	UTSW	19	53216867	missense	unknown
R0087:Add3	UTSW	19	53226607	missense	probably damaging	1.00
R0335:Add3	UTSW	19	53236828	missense	probably benign	0.00
R0346:Add3	UTSW	19	53216956	nonsense	probably null
R0514:Add3	UTSW	19	53236843	nonsense	probably null
R0692:Add3	UTSW	19	53216952	missense	probably damaging	1.00
R1437:Add3	UTSW	19	53233678	missense	probably damaging	0.98
R1747:Add3	UTSW	19	53242550	missense	probably benign	0.41
R2926:Add3	UTSW	19	53226822	splice site	probably null
R4192:Add3	UTSW	19	53242524	missense	probably benign	0.00
R5019:Add3	UTSW	19	53242571	missense	probably damaging	0.99
R5486:Add3	UTSW	19	53244387	missense	probably benign	0.00
R5526:Add3	UTSW	19	53226607	missense	probably damaging	1.00
R5580:Add3	UTSW	19	53245211	missense	probably damaging	1.00
R5851:Add3	UTSW	19	53236774	missense	probably damaging	1.00
R5863:Add3	UTSW	19	53233870	missense	probably benign	0.00
R5951:Add3	UTSW	19	53244289	splice site	probably null
R6229:Add3	UTSW	19	53234846	missense	probably benign	0.35
R7017:Add3	UTSW	19	53233853	missense	possibly damaging	0.94
R7190:Add3	UTSW	19	53216899	nonsense	probably null
R7222:Add3	UTSW	19	53216846	missense	unknown
R7231:Add3	UTSW	19	53233146	missense	probably benign	0.00
R7532:Add3	UTSW	19	53232158	missense	probably damaging	1.00
R7557:Add3	UTSW	19	53239437	missense	probably damaging	0.98
R7726:Add3	UTSW	19	53239461	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCAGCTTCTCTTTTGCAGTTAG -3'
(R):5'- AAGTTGTCCAGGGTCCTCATC -3'

Sequencing Primer
(F):5'- AGAGCATGTCCTCCTTAAACGTC -3'
(R):5'- GGTCCTCATCAGCCCTTCAAAC -3'

Posted On

2015-12-21