Mutagenetix > Incidental Mutation

Incidental Mutation 'R5068:Add2'

388437

Institutional Source

Beutler Lab

Gene Symbol

Add2

Ensembl Gene

ENSMUSG00000030000

Gene Name

adducin 2

Synonyms

2900072M03Rik

MMRRC Submission

042658-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

R5068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86005663-86101391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86084440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 496 (L496Q)

Ref Sequence

ENSEMBL: ENSMUSP00000145034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032069] [ENSMUST00000203196] [ENSMUST00000203279] [ENSMUST00000203366] [ENSMUST00000203724] [ENSMUST00000203786] [ENSMUST00000204059] [ENSMUST00000205034]

AlphaFold

Q9QYB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000032069
AA Change: L496Q

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032069
Gene: ENSMUSG00000030000
AA Change: L496Q

Domain	Start	End	E-Value	Type
Aldolase_II	135	317	2.9e-48	SMART
coiled coil region	558	585	N/A	INTRINSIC
low complexity region	687	725	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000203196
AA Change: L496Q

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145104
Gene: ENSMUSG00000030000
AA Change: L496Q

Domain	Start	End	E-Value	Type
Aldolase_II	135	317	2.9e-48	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203279

SMART Domains

Protein: ENSMUSP00000145452
Gene: ENSMUSG00000030000

Domain	Start	End	E-Value	Type
Aldolase_II	135	289	1.77e-20	SMART
coiled coil region	310	337	N/A	INTRINSIC
low complexity region	439	477	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000203366
AA Change: L496Q

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144849
Gene: ENSMUSG00000030000
AA Change: L496Q

Domain	Start	End	E-Value	Type
Aldolase_II	135	317	2.9e-48	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203724
AA Change: L496Q

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145296
Gene: ENSMUSG00000030000
AA Change: L496Q

Domain	Start	End	E-Value	Type
Aldolase_II	135	317	2.9e-48	SMART
coiled coil region	558	585	N/A	INTRINSIC
low complexity region	687	725	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000203786
AA Change: L496Q

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144694
Gene: ENSMUSG00000030000
AA Change: L496Q

Domain	Start	End	E-Value	Type
Aldolase_II	135	317	2.9e-48	SMART
coiled coil region	558	585	N/A	INTRINSIC
low complexity region	687	725	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000204059
AA Change: L496Q

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145160
Gene: ENSMUSG00000030000
AA Change: L496Q

Domain	Start	End	E-Value	Type
Aldolase_II	135	317	2.9e-48	SMART
coiled coil region	558	585	N/A	INTRINSIC
low complexity region	687	725	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000205034
AA Change: L496Q

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145034
Gene: ENSMUSG00000030000
AA Change: L496Q

Domain	Start	End	E-Value	Type
Aldolase_II	135	317	2.9e-48	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the beta subunit of the adducin family. Adducins, encoded by alpha, beta and gamma genes, are heteromeric proteins that crosslink actin filaments with spectrin at the cytoskeletal membrane. This protein, primarily found in the brain and hematopoietic cells, is regulated by phosphorylation and calmodulin interactions as it promotes spectrin assembly onto actin filaments, bundles actin and caps barbed ends of actin filaments. In mouse, deficiency of this gene can lead to mild hemolytic anemia and impaired synaptic plasticity. Mutations of this gene in mouse serve as a pathophysiological model for hereditary spherocytosis and hereditary elliptocytosis. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display mild anemia with compensated hemolysis, marked alteration in osmotic fragility, predominant presence of elliptocytes in the blood and increased blood pressure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
6030468B19Rik	A	G	11: 117,693,701 (GRCm39)	Y56C	possibly damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Akt1s1	T	C	7: 44,499,432 (GRCm39)		probably null	Het
Als2	G	T	1: 59,250,433 (GRCm39)	P437Q	probably benign	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd17	T	C	5: 90,402,667 (GRCm39)	R1464G	probably damaging	Het
Ankrd24	T	C	10: 81,475,699 (GRCm39)	S121P	possibly damaging	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Bnip3l	T	C	14: 67,237,081 (GRCm39)	E57G	possibly damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cc2d1b	T	C	4: 108,480,661 (GRCm39)	V27A	possibly damaging	Het
Cdc37	T	C	9: 21,061,099 (GRCm39)	T19A	probably damaging	Het
Cep152	T	C	2: 125,413,736 (GRCm39)	I1199V	probably benign	Het
Chd6	G	T	2: 160,808,289 (GRCm39)	L1642I	possibly damaging	Het
Chst13	T	C	6: 90,286,551 (GRCm39)	E137G	possibly damaging	Het
Cnrip1	A	G	11: 17,004,687 (GRCm39)	D79G	probably damaging	Het
Dars2	A	T	1: 160,869,483 (GRCm39)	C589S	probably benign	Het
Dhx15	T	G	5: 52,327,409 (GRCm39)	I102L	possibly damaging	Het
Dip2a	A	G	10: 76,153,877 (GRCm39)	L151P	possibly damaging	Het
Dlc1	T	C	8: 37,405,184 (GRCm39)	T202A	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dlgap4	T	C	2: 156,549,031 (GRCm39)	F464L	probably benign	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Dthd1	C	A	5: 62,976,059 (GRCm39)	D244E	probably benign	Het
Dtl	A	T	1: 191,300,485 (GRCm39)	D126E	probably damaging	Het
Ell2	A	G	13: 75,911,737 (GRCm39)	N341S	probably benign	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Erbb4	A	T	1: 68,083,061 (GRCm39)		probably null	Het
Erc2	A	T	14: 28,024,900 (GRCm39)	H593L	possibly damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Fyn	A	G	10: 39,402,839 (GRCm39)	K204E	probably damaging	Het
Gm4847	A	T	1: 166,465,953 (GRCm39)	F212Y	possibly damaging	Het
Gpc5	T	C	14: 115,654,676 (GRCm39)	*499R	probably null	Het
Hcn4	T	C	9: 58,767,304 (GRCm39)	L955P	unknown	Het
Hook2	C	A	8: 85,720,028 (GRCm39)	L111I	possibly damaging	Het
Hook3	C	T	8: 26,585,785 (GRCm39)		probably null	Het
Hvcn1	T	C	5: 122,371,544 (GRCm39)	F28S	probably damaging	Het
Igkv6-32	A	G	6: 70,051,267 (GRCm39)	F30L	possibly damaging	Het
Inpp5b	G	A	4: 124,636,442 (GRCm39)		probably null	Het
Itgb2	G	A	10: 77,384,595 (GRCm39)	A239T	probably damaging	Het
Kcnrg	T	C	14: 61,845,266 (GRCm39)	L102P	probably damaging	Het
Kif16b	A	T	2: 142,553,627 (GRCm39)	M1068K	probably benign	Het
Kifc3	T	C	8: 95,836,844 (GRCm39)	R109G	possibly damaging	Het
Klhl28	A	T	12: 65,004,486 (GRCm39)	M9K	probably benign	Het
Kptn	T	C	7: 15,857,027 (GRCm39)	Y172H	probably damaging	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Mrc1	T	A	2: 14,311,327 (GRCm39)	M868K	probably benign	Het
Mterf1a	T	C	5: 3,941,854 (GRCm39)	N5D	probably benign	Het
Muc5b	T	C	7: 141,412,345 (GRCm39)	S1764P	unknown	Het
Myo9b	T	C	8: 71,801,699 (GRCm39)	Y1275H	probably damaging	Het
Nek1	T	C	8: 61,469,330 (GRCm39)	I129T	probably damaging	Het
Net1	G	A	13: 3,936,740 (GRCm39)	A221V	probably benign	Het
Nuak2	A	T	1: 132,259,509 (GRCm39)	D429V	probably benign	Het
Nup98	T	C	7: 101,794,862 (GRCm39)	T882A	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or52h1	T	A	7: 103,829,448 (GRCm39)	S56C	probably damaging	Het
Or8b42	T	C	9: 38,341,760 (GRCm39)	Y61H	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh7	T	C	5: 57,879,508 (GRCm39)	V1021A	probably damaging	Het
Pclo	G	C	5: 14,729,087 (GRCm39)		probably benign	Het
Pds5a	A	C	5: 65,772,615 (GRCm39)	D1329E	probably damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pias3	A	G	3: 96,611,171 (GRCm39)	K431E	probably damaging	Het
Piwil1	T	C	5: 128,818,678 (GRCm39)	S158P	probably damaging	Het
Plxnc1	A	T	10: 94,635,239 (GRCm39)	I1329N	possibly damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pnpla1	T	A	17: 29,098,397 (GRCm39)		probably null	Het
Prdm10	T	C	9: 31,270,343 (GRCm39)	Y827H	probably damaging	Het
Prss3b	A	C	6: 41,009,370 (GRCm39)	Y155D	probably benign	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rgl3	A	G	9: 21,899,340 (GRCm39)		probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rpp40	T	C	13: 36,082,681 (GRCm39)	N254D	probably benign	Het
Scin	T	A	12: 40,174,699 (GRCm39)	H128L	probably damaging	Het
Sh3bp2	A	T	5: 34,714,311 (GRCm39)	M225L	probably benign	Het
Shisa9	C	A	16: 12,085,412 (GRCm39)	H324Q	possibly damaging	Het
Sipa1l1	A	G	12: 82,484,601 (GRCm39)	D1585G	probably damaging	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Slc6a13	T	C	6: 121,310,301 (GRCm39)	L320P	probably damaging	Het
Spats2l	A	G	1: 57,982,380 (GRCm39)	T421A	probably benign	Het
Spryd3	A	T	15: 102,037,046 (GRCm39)	D207E	probably benign	Het
Srrt	T	C	5: 137,294,803 (GRCm39)	N392S	possibly damaging	Het
Stk36	G	T	1: 74,661,504 (GRCm39)	R510S	probably benign	Het
Sucnr1	A	G	3: 59,994,288 (GRCm39)	Y272C	probably damaging	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Tmem131	A	G	1: 36,893,986 (GRCm39)	I139T	probably damaging	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,655,750 (GRCm39)	I661T	probably benign	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Uap1	G	T	1: 169,989,032 (GRCm39)	P130Q	probably damaging	Het
Ube3c	T	C	5: 29,806,352 (GRCm39)		probably null	Het
Umad1	A	T	6: 8,401,157 (GRCm39)		probably null	Het
Usp34	T	C	11: 23,410,665 (GRCm39)	V2705A	possibly damaging	Het
Vps13a	T	C	19: 16,723,422 (GRCm39)	S259G	probably benign	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wdfy3	T	C	5: 102,042,803 (GRCm39)	T1983A	probably benign	Het
Wdr24	T	G	17: 26,044,753 (GRCm39)	F203V	possibly damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	Het
Zfp282	A	C	6: 47,854,637 (GRCm39)	Q11P	probably benign	Het
Zfp750	T	A	11: 121,403,021 (GRCm39)	T576S	probably benign	Het

Other mutations in Add2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02689:Add2	APN	6	86,084,388 (GRCm39)	missense	possibly damaging	0.94
IGL02799:Add2	UTSW	6	86,083,234 (GRCm39)	missense	possibly damaging	0.65
R0012:Add2	UTSW	6	86,075,610 (GRCm39)	missense	probably damaging	0.98
R0448:Add2	UTSW	6	86,069,901 (GRCm39)	missense	probably benign	0.05
R0452:Add2	UTSW	6	86,081,611 (GRCm39)	nonsense	probably null
R0834:Add2	UTSW	6	86,063,899 (GRCm39)	missense	probably damaging	0.99
R1220:Add2	UTSW	6	86,063,982 (GRCm39)	missense	possibly damaging	0.92
R1598:Add2	UTSW	6	86,075,628 (GRCm39)	missense	probably benign	0.03
R1806:Add2	UTSW	6	86,095,639 (GRCm39)	missense	probably damaging	0.96
R1837:Add2	UTSW	6	86,095,540 (GRCm39)	missense	probably damaging	1.00
R1959:Add2	UTSW	6	86,073,738 (GRCm39)	missense	probably damaging	1.00
R1961:Add2	UTSW	6	86,073,738 (GRCm39)	missense	probably damaging	1.00
R2152:Add2	UTSW	6	86,075,580 (GRCm39)	missense	probably damaging	1.00
R2309:Add2	UTSW	6	86,073,783 (GRCm39)	missense	probably damaging	1.00
R4744:Add2	UTSW	6	86,087,870 (GRCm39)	missense	probably damaging	1.00
R4789:Add2	UTSW	6	86,095,752 (GRCm39)	missense	probably benign	0.04
R4896:Add2	UTSW	6	86,073,728 (GRCm39)	missense	probably benign	0.03
R4989:Add2	UTSW	6	86,087,840 (GRCm39)	missense	probably benign	0.10
R5004:Add2	UTSW	6	86,073,728 (GRCm39)	missense	probably benign	0.03
R5061:Add2	UTSW	6	86,064,029 (GRCm39)	splice site	probably null
R5405:Add2	UTSW	6	86,078,179 (GRCm39)	missense	probably benign	0.09
R5418:Add2	UTSW	6	86,087,894 (GRCm39)	missense	probably benign	0.00
R5576:Add2	UTSW	6	86,084,457 (GRCm39)	critical splice donor site	probably null
R5952:Add2	UTSW	6	86,086,728 (GRCm39)	missense	probably damaging	1.00
R6011:Add2	UTSW	6	86,075,607 (GRCm39)	missense	probably damaging	1.00
R6031:Add2	UTSW	6	86,075,655 (GRCm39)	missense	probably damaging	1.00
R6031:Add2	UTSW	6	86,075,655 (GRCm39)	missense	probably damaging	1.00
R7026:Add2	UTSW	6	86,063,965 (GRCm39)	missense	probably benign	0.39
R7158:Add2	UTSW	6	86,062,934 (GRCm39)	missense	probably damaging	1.00
R7387:Add2	UTSW	6	86,062,997 (GRCm39)	missense	probably damaging	1.00
R7393:Add2	UTSW	6	86,075,629 (GRCm39)	nonsense	probably null
R7487:Add2	UTSW	6	86,070,432 (GRCm39)	missense	possibly damaging	0.94
R7511:Add2	UTSW	6	86,075,597 (GRCm39)	missense	probably benign
R7543:Add2	UTSW	6	86,083,207 (GRCm39)	missense	probably damaging	1.00
R8186:Add2	UTSW	6	86,085,002 (GRCm39)	missense	probably benign	0.44
R8205:Add2	UTSW	6	86,063,899 (GRCm39)	missense	probably damaging	0.99
R9151:Add2	UTSW	6	86,081,459 (GRCm39)	splice site	probably benign
R9792:Add2	UTSW	6	86,078,135 (GRCm39)	critical splice acceptor site	probably null
R9793:Add2	UTSW	6	86,078,135 (GRCm39)	critical splice acceptor site	probably null
Z1088:Add2	UTSW	6	86,062,947 (GRCm39)	missense	probably damaging	0.98
Z1176:Add2	UTSW	6	86,075,572 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAACTCTGAGCGACTTGTAGACC -3'
(R):5'- CACAGAGGACCATAGGACTGTG -3'

Sequencing Primer
(F):5'- GAGCGACTTGTAGACCTTCAATGC -3'
(R):5'- ACTGTGTAAGTCCTGCACGAG -3'

Posted On

2016-06-06