Mutagenetix > Incidental Mutation

Incidental Mutation 'R9371:Add3'

709347

Institutional Source

Beutler Lab

Gene Symbol

Add3

Ensembl Gene

ENSMUSG00000025026

Gene Name

adducin 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53128874-53235518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53221499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 204 (T204A)

Ref Sequence

ENSEMBL: ENSMUSP00000025999 (fasta)

Gene Model

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

AlphaFold

Q9QYB5

Predicted Effect

probably damaging
Transcript: ENSMUST00000025999
AA Change: T204A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025999
Gene: ENSMUSG00000025026
AA Change: T204A

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 damaging
Transcript: ENSMUST00000050096
AA Change: T204A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052245
Gene: ENSMUSG00000025026
AA Change: T204A

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 damaging
Transcript: ENSMUST00000111741
AA Change: T204A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107370
Gene: ENSMUSG00000025026
AA Change: T204A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	C	6: 40,943,663 (GRCm39)	I109T	probably damaging	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Abca8b	T	G	11: 109,858,498 (GRCm39)	Q568P	probably damaging	Het
Afg3l2	C	A	18: 67,567,262 (GRCm39)	R196L	possibly damaging	Het
Agps	T	A	2: 75,742,024 (GRCm39)		probably null	Het
Akap9	A	G	5: 4,011,852 (GRCm39)	S852G	possibly damaging	Het
Aoc1	A	G	6: 48,883,102 (GRCm39)	D326G	probably benign	Het
Cecr2	A	G	6: 120,739,229 (GRCm39)	T1319A	probably benign	Het
Cenpo	C	T	12: 4,266,686 (GRCm39)	V141I	probably benign	Het
Clca4b	A	G	3: 144,631,845 (GRCm39)	L220S	possibly damaging	Het
Dicer1	A	G	12: 104,670,991 (GRCm39)	L1017P	probably damaging	Het
Ero1b	T	G	13: 12,589,728 (GRCm39)	C44G	probably damaging	Het
Ffar2	A	T	7: 30,518,929 (GRCm39)	W204R	probably benign	Het
Fmo3	T	A	1: 162,796,281 (GRCm39)	E97V	probably benign	Het
Gcnt4	G	T	13: 97,083,634 (GRCm39)	R310L	possibly damaging	Het
Gm7298	A	G	6: 121,744,541 (GRCm39)	I520V	probably benign	Het
Gmpr	T	C	13: 45,699,471 (GRCm39)	L327P	probably damaging	Het
Grid2	T	A	6: 64,677,506 (GRCm39)	H108Q	unknown	Het
Hmcn2	G	T	2: 31,301,917 (GRCm39)	L2935F	probably damaging	Het
Hnf1b	T	C	11: 83,779,986 (GRCm39)	S440P	probably benign	Het
Hsph1	A	T	5: 149,543,395 (GRCm39)	Y644N	probably damaging	Het
Igf2r	A	G	17: 12,924,646 (GRCm39)	I1057T	possibly damaging	Het
Igfn1	T	C	1: 135,906,001 (GRCm39)	E269G	probably damaging	Het
Igkv14-126	A	G	6: 67,873,352 (GRCm39)	T27A	possibly damaging	Het
Inhca	A	T	9: 103,158,252 (GRCm39)	Y103N	probably benign	Het
Kcnj15	A	G	16: 95,097,556 (GRCm39)	R393G	unknown	Het
Lamb1	A	G	12: 31,348,863 (GRCm39)	T632A	probably damaging	Het
Lrrk2	T	C	15: 91,607,407 (GRCm39)	L590P	probably damaging	Het
Mrm3	A	G	11: 76,138,286 (GRCm39)	T225A	possibly damaging	Het
Mthfd1l	A	G	10: 4,053,335 (GRCm39)	T895A	possibly damaging	Het
Myh1	G	A	11: 67,110,631 (GRCm39)		probably null	Het
Naip2	T	A	13: 100,298,354 (GRCm39)	K561*	probably null	Het
Necab2	C	T	8: 120,173,923 (GRCm39)	P44S	probably benign	Het
Nrde2	T	C	12: 100,092,477 (GRCm39)	S1126G	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or14j6	A	G	17: 38,214,962 (GRCm39)	H175R	probably benign	Het
Or8c17	T	A	9: 38,179,926 (GRCm39)	V31E	possibly damaging	Het
Pecam1	T	G	11: 106,581,947 (GRCm39)	D333A	probably benign	Het
Prss27	T	C	17: 24,257,141 (GRCm39)		probably benign	Het
Rapgef2	T	C	3: 79,082,300 (GRCm39)	E100G	probably damaging	Het
Rnft2	A	G	5: 118,340,982 (GRCm39)	F299L	probably damaging	Het
Rptor	A	G	11: 119,562,152 (GRCm39)	N105S	possibly damaging	Het
S100a7l2	T	C	3: 90,997,698 (GRCm39)	T6A	unknown	Het
Scgb2b3	T	A	7: 31,059,642 (GRCm39)	H44L	probably benign	Het
Slc22a17	A	T	14: 55,147,139 (GRCm39)	V53D	possibly damaging	Het
Slc39a14	G	A	14: 70,547,569 (GRCm39)	T298M	probably benign	Het
Sorbs1	G	A	19: 40,315,324 (GRCm39)	T496M	probably damaging	Het
Spata31e1	G	C	13: 49,939,052 (GRCm39)	T886S	unknown	Het
Taar8a	T	C	10: 23,952,753 (GRCm39)	V119A	probably benign	Het
Tas1r3	T	C	4: 155,945,059 (GRCm39)	T721A	possibly damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmie	A	T	9: 110,696,651 (GRCm39)	C77S	probably damaging	Het
Tpp2	T	A	1: 43,999,369 (GRCm39)	I381K	probably damaging	Het
Ttn	G	C	2: 76,776,822 (GRCm39)	A1526G	unknown	Het
Vmn2r12	T	A	5: 109,234,452 (GRCm39)	M587L	probably benign	Het
Zeb2	G	T	2: 44,888,912 (GRCm39)	H344Q	probably damaging	Het
Zfp292	A	G	4: 34,810,800 (GRCm39)	I753T	probably damaging	Het
Zfp442	A	T	2: 150,250,676 (GRCm39)	C409S	unknown	Het
Zfp677	C	T	17: 21,618,053 (GRCm39)	T370M	probably damaging	Het
Zfp947	G	A	17: 22,364,384 (GRCm39)	T430I	possibly 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
R5951:Add3	UTSW	19	53,232,720 (GRCm39)	splice site	probably null
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
R9550:Add3	UTSW	19	53,233,521 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TTGCAACCGAGGACCATAAC -3'
(R):5'- GCAGCCTGTGATTGTAAGAACC -3'

Sequencing Primer
(F):5'- TAACATCCAAAACACTCTCTGGG -3'
(R):5'- CAGCCTGTGATTGTAAGAACCTTTTG -3'

Posted On

2022-04-18