Mutagenetix > Incidental Mutation

Incidental Mutation 'R5951:Add3'

470925

Institutional Source

Beutler Lab

Gene Symbol

Add3

Ensembl Gene

ENSMUSG00000025026

Gene Name

adducin 3

Synonyms

MMRRC Submission

044141-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53128874-53235518 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 53232720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107370 (fasta)

Gene Model

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

AlphaFold

Q9QYB5

Predicted Effect

probably null
Transcript: ENSMUST00000025999

SMART Domains

Protein: ENSMUSP00000025999
Gene: ENSMUSG00000025026

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

probably benign
Transcript: ENSMUST00000050096

SMART Domains

Protein: ENSMUSP00000052245
Gene: ENSMUSG00000025026

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

probably null
Transcript: ENSMUST00000111741

SMART Domains

Protein: ENSMUSP00000107370
Gene: ENSMUSG00000025026

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

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (78/78)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,811 (GRCm39)	E180D	probably damaging	Het
Adgrv1	A	T	13: 81,590,620 (GRCm39)	I4396N	probably damaging	Het
Apc	C	T	18: 34,450,199 (GRCm39)	S2331L	possibly damaging	Het
Apoh	G	T	11: 108,286,729 (GRCm39)	C51F	probably damaging	Het
Arid4b	T	C	13: 14,317,648 (GRCm39)	V177A	possibly damaging	Het
Atp13a1	T	A	8: 70,249,935 (GRCm39)	I343N	probably damaging	Het
Bcar1	T	C	8: 112,440,032 (GRCm39)	D654G	probably benign	Het
Brox	T	C	1: 183,064,072 (GRCm39)	K245R	probably damaging	Het
Ccdc146	A	T	5: 21,524,577 (GRCm39)	S258R	possibly damaging	Het
Ccdc169	A	C	3: 55,047,562 (GRCm39)	K18Q	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Crot	C	A	5: 9,019,120 (GRCm39)	E478*	probably null	Het
Dgkq	A	T	5: 108,802,236 (GRCm39)	M443K	probably damaging	Het
Dhx32	A	T	7: 133,339,057 (GRCm39)	L326Q	probably damaging	Het
Dtwd1	A	G	2: 126,000,342 (GRCm39)	I93V	probably benign	Het
Ehmt2	C	T	17: 35,118,357 (GRCm39)	T44I	probably benign	Het
Enc1	T	C	13: 97,381,765 (GRCm39)	S92P	probably benign	Het
Epha5	T	C	5: 84,479,051 (GRCm39)		probably benign	Het
Eya4	T	A	10: 23,031,892 (GRCm39)	S244C	probably damaging	Het
Fmnl3	G	A	15: 99,223,791 (GRCm39)	R302W	probably damaging	Het
Fscn3	A	T	6: 28,436,173 (GRCm39)	I490F	possibly damaging	Het
Galntl6	A	G	8: 58,415,436 (GRCm39)	V239A	probably benign	Het
Glg1	T	C	8: 111,892,323 (GRCm39)	I841V	possibly damaging	Het
Gm15455	T	C	1: 33,876,893 (GRCm39)		noncoding transcript	Het
Gpd1l	C	T	9: 114,743,473 (GRCm39)	M142I	probably benign	Het
Helb	A	G	10: 119,927,653 (GRCm39)	V819A	possibly damaging	Het
Hnrnpul2	T	G	19: 8,802,255 (GRCm39)	F374C	probably damaging	Het
Hoxc10	G	A	15: 102,875,753 (GRCm39)	S154N	possibly damaging	Het
Ice2	A	T	9: 69,319,651 (GRCm39)	T367S	possibly damaging	Het
Iqca1	A	T	1: 90,067,819 (GRCm39)		probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Klhl14	T	A	18: 21,784,677 (GRCm39)	H250L	probably damaging	Het
Kmt2c	A	T	5: 25,535,801 (GRCm39)	D1447E	probably benign	Het
Larp1	G	T	11: 57,940,765 (GRCm39)	M630I	probably benign	Het
Lrp2	A	G	2: 69,326,667 (GRCm39)		probably null	Het
Map4k3	G	T	17: 80,911,427 (GRCm39)	Q673K	probably benign	Het
Mettl16	A	G	11: 74,686,823 (GRCm39)	N201D	possibly damaging	Het
Mrpl15	C	A	1: 4,855,956 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,998,222 (GRCm39)	V655D	probably damaging	Het
Odf1	T	C	15: 38,226,531 (GRCm39)	Y144H	probably damaging	Het
Or2f1b	G	T	6: 42,739,493 (GRCm39)	C169F	probably damaging	Het
Or5t5	G	T	2: 86,616,571 (GRCm39)	V166L	probably benign	Het
Padi1	T	C	4: 140,542,140 (GRCm39)	Y594C	probably damaging	Het
Palm3	T	A	8: 84,756,049 (GRCm39)	D520E	probably benign	Het
Paox	G	A	7: 139,707,567 (GRCm39)	C130Y	probably damaging	Het
Parpbp	T	A	10: 87,975,769 (GRCm39)	S115C	probably damaging	Het
Pcnx3	A	G	19: 5,721,708 (GRCm39)	V1438A	possibly damaging	Het
Pdlim2	T	A	14: 70,405,229 (GRCm39)	D212V	probably benign	Het
Pi4ka	A	G	16: 17,121,006 (GRCm39)	F53L	probably damaging	Het
Pik3c2a	A	T	7: 115,967,419 (GRCm39)	D839E	probably damaging	Het
Pou2f1	T	C	1: 165,710,625 (GRCm39)		probably benign	Het
Ppl	A	T	16: 4,906,492 (GRCm39)	Y1268N	probably benign	Het
Prelid3a	C	T	18: 67,598,011 (GRCm39)	S6L	probably benign	Het
Ptk2	T	G	15: 73,175,682 (GRCm39)	D285A	possibly damaging	Het
Rasd2	T	G	8: 75,948,811 (GRCm39)	Y246D	probably damaging	Het
Rhbdl2	A	G	4: 123,708,120 (GRCm39)	T110A	probably benign	Het
Rhobtb1	T	A	10: 69,106,085 (GRCm39)	F217I	probably damaging	Het
Serhl	T	C	15: 82,987,237 (GRCm39)		probably benign	Het
Sh3tc2	A	G	18: 62,123,078 (GRCm39)	E613G	probably damaging	Het
Slc26a3	A	G	12: 31,502,714 (GRCm39)		probably benign	Het
Steap4	T	C	5: 8,025,769 (GRCm39)	I110T	probably benign	Het
Syde1	C	A	10: 78,425,150 (GRCm39)	R287L	possibly damaging	Het
Tmem184c	C	T	8: 78,325,291 (GRCm39)		probably null	Het
Trmt44	C	A	5: 35,730,032 (GRCm39)		probably benign	Het
Ttbk2	G	T	2: 120,603,764 (GRCm39)	S256R	probably benign	Het
Ttll6	A	T	11: 96,036,336 (GRCm39)	I322F	probably damaging	Het
Ubap2	A	T	4: 41,205,753 (GRCm39)		probably null	Het
Wsb2	A	T	5: 117,515,600 (GRCm39)	T402S	probably damaging	Het

Other mutations in Add3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01744:Add3	APN	19	53,227,861 (GRCm39)	missense	probably damaging	1.00
IGL02177:Add3	APN	19	53,205,323 (GRCm39)	nonsense	probably null
IGL03093:Add3	APN	19	53,219,638 (GRCm39)	missense	probably damaging	1.00
IGL03047:Add3	UTSW	19	53,231,022 (GRCm39)	missense	probably benign	0.00
PIT4243001:Add3	UTSW	19	53,225,121 (GRCm39)	missense	probably benign	0.00
PIT4366001:Add3	UTSW	19	53,205,298 (GRCm39)	missense	unknown
R0087:Add3	UTSW	19	53,215,038 (GRCm39)	missense	probably damaging	1.00
R0335:Add3	UTSW	19	53,225,259 (GRCm39)	missense	probably benign	0.00
R0346:Add3	UTSW	19	53,205,387 (GRCm39)	nonsense	probably null
R0514:Add3	UTSW	19	53,225,274 (GRCm39)	nonsense	probably null
R0692:Add3	UTSW	19	53,205,383 (GRCm39)	missense	probably damaging	1.00
R1437:Add3	UTSW	19	53,222,109 (GRCm39)	missense	probably damaging	0.98
R1747:Add3	UTSW	19	53,230,981 (GRCm39)	missense	probably benign	0.41
R2926:Add3	UTSW	19	53,215,253 (GRCm39)	splice site	probably null
R4192:Add3	UTSW	19	53,230,955 (GRCm39)	missense	probably benign	0.00
R4780:Add3	UTSW	19	53,223,223 (GRCm39)	missense	possibly damaging	0.64
R5019:Add3	UTSW	19	53,231,002 (GRCm39)	missense	probably damaging	0.99
R5486:Add3	UTSW	19	53,232,818 (GRCm39)	missense	probably benign	0.00
R5526:Add3	UTSW	19	53,215,038 (GRCm39)	missense	probably damaging	1.00
R5580:Add3	UTSW	19	53,233,642 (GRCm39)	missense	probably damaging	1.00
R5851:Add3	UTSW	19	53,225,205 (GRCm39)	missense	probably damaging	1.00
R5863:Add3	UTSW	19	53,222,301 (GRCm39)	missense	probably benign	0.00
R6229:Add3	UTSW	19	53,223,277 (GRCm39)	missense	probably benign	0.35
R7017:Add3	UTSW	19	53,222,284 (GRCm39)	missense	possibly damaging	0.94
R7190:Add3	UTSW	19	53,205,330 (GRCm39)	nonsense	probably null
R7222:Add3	UTSW	19	53,205,277 (GRCm39)	missense	unknown
R7231:Add3	UTSW	19	53,221,577 (GRCm39)	missense	probably benign	0.00
R7532:Add3	UTSW	19	53,220,589 (GRCm39)	missense	probably damaging	1.00
R7557:Add3	UTSW	19	53,227,868 (GRCm39)	missense	probably damaging	0.98
R7726:Add3	UTSW	19	53,227,892 (GRCm39)	missense	probably damaging	1.00
R9063:Add3	UTSW	19	53,222,302 (GRCm39)	missense	probably damaging	0.98
R9069:Add3	UTSW	19	53,222,332 (GRCm39)	missense	possibly damaging	0.92
R9371:Add3	UTSW	19	53,221,499 (GRCm39)	missense	probably damaging	1.00
R9550:Add3	UTSW	19	53,233,521 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AACGCATTCAGTCTCTGTCTG -3'
(R):5'- GGACAAACGACAGGGCTTAC -3'

Sequencing Primer
(F):5'- CAAGTTACTGTTCATGGCCAG -3'
(R):5'- CGACAGGGCTTACGAGGG -3'

Posted On

2017-03-31