Mutagenetix > Incidental Mutation

Incidental Mutation 'R4989:Add2'

386028

Institutional Source

Beutler Lab

Gene Symbol

Add2

Ensembl Gene

ENSMUSG00000030000

Gene Name

adducin 2

Synonyms

2900072M03Rik

MMRRC Submission

042583-MU

Accession Numbers

Essential gene?

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

Stock #

R4989 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86005663-86101391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86087840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 596 (V596I)

Ref Sequence

ENSEMBL: ENSMUSP00000145160 (fasta)

Gene Model

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

AlphaFold

Q9QYB8

Predicted Effect

probably benign
Transcript: ENSMUST00000032069
AA Change: V596I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032069
Gene: ENSMUSG00000030000
AA Change: V596I

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 benign
Transcript: ENSMUST00000203196

SMART Domains

Protein: ENSMUSP00000145104
Gene: ENSMUSG00000030000

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203279
AA Change: V348I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000145452
Gene: ENSMUSG00000030000
AA Change: V348I

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 benign
Transcript: ENSMUST00000203366

SMART Domains

Protein: ENSMUSP00000144849
Gene: ENSMUSG00000030000

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203724
AA Change: V596I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145296
Gene: ENSMUSG00000030000
AA Change: V596I

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 benign
Transcript: ENSMUST00000203786
AA Change: V596I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144694
Gene: ENSMUSG00000030000
AA Change: V596I

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 benign
Transcript: ENSMUST00000204059
AA Change: V596I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145160
Gene: ENSMUSG00000030000
AA Change: V596I

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 benign
Transcript: ENSMUST00000205034

SMART Domains

Protein: ENSMUSP00000145034
Gene: ENSMUSG00000030000

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (115/115)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Acot6	A	G	12: 84,155,789 (GRCm39)	K246E	probably benign	Het
Actl11	T	A	9: 107,808,615 (GRCm39)	H979Q	probably damaging	Het
Adal	T	A	2: 120,986,030 (GRCm39)		probably benign	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Ank1	T	C	8: 23,631,134 (GRCm39)		probably benign	Het
Ank2	A	T	3: 126,757,094 (GRCm39)	N1054K	possibly damaging	Het
Ankib1	T	C	5: 3,763,217 (GRCm39)	Y504C	probably damaging	Het
Ankrd29	T	C	18: 12,395,242 (GRCm39)	K217R	probably damaging	Het
Ankrd45	T	C	1: 160,982,876 (GRCm39)	V129A	probably damaging	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Aph1a	G	T	3: 95,802,843 (GRCm39)	G148W	probably damaging	Het
Arhgef26	G	A	3: 62,247,806 (GRCm39)	D297N	possibly damaging	Het
Atxn7l3b	C	A	10: 112,764,649 (GRCm39)		probably benign	Het
Auh	A	G	13: 52,995,065 (GRCm39)	S167P	probably damaging	Het
Bach1	A	T	16: 87,515,888 (GRCm39)	K143I	possibly damaging	Het
Bbx	T	A	16: 50,045,101 (GRCm39)	T487S	probably damaging	Het
Bche	T	G	3: 73,609,177 (GRCm39)	D83A	probably benign	Het
Bri3bp	G	T	5: 125,518,760 (GRCm39)		probably benign	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cdc42bpa	A	G	1: 179,965,366 (GRCm39)	T1028A	probably damaging	Het
Ceacam23	A	G	7: 17,639,143 (GRCm39)		probably null	Het
Celsr2	T	C	3: 108,319,945 (GRCm39)	I956V	possibly damaging	Het
Cep95	A	T	11: 106,707,480 (GRCm39)		probably null	Het
Cic	G	T	7: 24,986,535 (GRCm39)	G1289C	probably damaging	Het
Cndp1	A	G	18: 84,650,025 (GRCm39)	Y223H	probably damaging	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Ctsm	A	G	13: 61,686,776 (GRCm39)	Y39H	probably damaging	Het
Dhrs2	T	C	14: 55,474,722 (GRCm39)	V119A	probably damaging	Het
Drosha	T	A	15: 12,935,093 (GRCm39)	M1336K	probably benign	Het
Dsp	G	A	13: 38,381,678 (GRCm39)	D2808N	possibly damaging	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Epas1	A	G	17: 87,116,882 (GRCm39)	N184S	probably damaging	Het
Erich3	C	T	3: 154,454,025 (GRCm39)	T597I	possibly damaging	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fcgrt	C	T	7: 44,751,372 (GRCm39)	G192D	probably benign	Het
Fras1	A	G	5: 96,798,541 (GRCm39)	E1184G	possibly damaging	Het
Garre1	A	C	7: 33,945,225 (GRCm39)	Y552D	probably damaging	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gvin-ps5	A	T	7: 105,928,664 (GRCm39)		noncoding transcript	Het
Hadh	A	T	3: 131,029,197 (GRCm39)	L274*	probably null	Het
Hus1	T	C	11: 8,956,027 (GRCm39)	S169G	probably damaging	Het
Hydin	A	T	8: 111,290,554 (GRCm39)	I3338F	possibly damaging	Het
Ighv11-1	T	G	12: 113,945,768 (GRCm39)	E28D	probably benign	Het
Kctd9	C	T	14: 67,966,805 (GRCm39)	T106I	probably damaging	Het
Krit1	A	T	5: 3,872,238 (GRCm39)	N421I	probably damaging	Het
Lamb1	A	G	12: 31,376,677 (GRCm39)	D1619G	probably damaging	Het
Lpar6	G	A	14: 73,476,147 (GRCm39)	C36Y	probably damaging	Het
Lrrc37a	G	C	11: 103,347,565 (GRCm39)	F3043L	unknown	Het
Lrrc46	A	T	11: 96,931,765 (GRCm39)	V19D	probably damaging	Het
Mapkap1	G	T	2: 34,471,303 (GRCm39)	S197I	probably damaging	Het
Mrps35	A	C	6: 146,961,645 (GRCm39)	K173N	possibly damaging	Het
Mtf2	A	G	5: 108,220,894 (GRCm39)		probably benign	Het
Ncf1	A	C	5: 134,252,267 (GRCm39)	D261E	probably damaging	Het
Notch1	C	T	2: 26,371,193 (GRCm39)	E298K	probably damaging	Het
Nrxn1	A	T	17: 90,928,274 (GRCm39)		probably benign	Het
Or13a18	C	A	7: 140,190,304 (GRCm39)	A75E	possibly damaging	Het
Or4x13	T	A	2: 90,231,107 (GRCm39)	M34K	probably benign	Het
Or52a33	A	G	7: 103,289,308 (GRCm39)	F13S	probably damaging	Het
Or5k3	T	C	16: 58,969,981 (GRCm39)	L256P	probably damaging	Het
Or5v1	G	T	17: 37,810,017 (GRCm39)	L158F	probably benign	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Pakap	T	A	4: 57,856,552 (GRCm39)	V668E	probably benign	Het
Papolg	T	C	11: 23,823,919 (GRCm39)		probably null	Het
Pgk2	A	G	17: 40,518,402 (GRCm39)	V342A	probably damaging	Het
Phf2	G	A	13: 48,961,320 (GRCm39)	A790V	unknown	Het
Prkdc	T	C	16: 15,491,861 (GRCm39)	I602T	possibly damaging	Het
Prl3d3	T	C	13: 27,343,072 (GRCm39)	I86T	possibly damaging	Het
Prss8	G	T	7: 127,525,635 (GRCm39)	Q295K	probably benign	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Qrfpr	A	G	3: 36,276,285 (GRCm39)	V35A	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Rpl41	G	T	10: 128,384,652 (GRCm39)		probably null	Het
Rprd2	G	C	3: 95,672,632 (GRCm39)	R924G	probably benign	Het
Serpini1	T	A	3: 75,521,795 (GRCm39)	N95K	probably benign	Het
Sfxn1	A	T	13: 54,242,933 (GRCm39)	T64S	probably benign	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
Slc25a4	T	A	8: 46,660,509 (GRCm39)	K296N	probably benign	Het
Slc37a1	A	G	17: 31,541,120 (GRCm39)	N204S	probably damaging	Het
Slc9c1	A	G	16: 45,413,800 (GRCm39)	N976S	probably benign	Het
Smarcal1	T	C	1: 72,672,019 (GRCm39)	S847P	possibly damaging	Het
Smg1	A	T	7: 117,757,323 (GRCm39)		probably benign	Het
Smg1	C	T	7: 117,807,274 (GRCm39)	A168T	probably benign	Het
Sptlc1	A	G	13: 53,505,692 (GRCm39)	I242T	probably damaging	Het
St8sia2	T	C	7: 73,616,709 (GRCm39)	I89V	possibly damaging	Het
Supt20	A	T	3: 54,602,555 (GRCm39)		probably benign	Het
Tep1	T	C	14: 51,076,457 (GRCm39)	D1659G	probably benign	Het
Tex10	C	A	4: 48,458,525 (GRCm39)		probably benign	Het
Thbs3	CAGAAG	CAG	3: 89,130,409 (GRCm39)		probably benign	Het
Tmbim6	C	A	15: 99,299,950 (GRCm39)	S22*	probably null	Het
Tmc2	A	T	2: 130,043,961 (GRCm39)	K65M	possibly damaging	Het
Tmod1	A	G	4: 46,090,872 (GRCm39)	S142G	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trmt6	T	C	2: 132,650,191 (GRCm39)	R349G	possibly damaging	Het
Ttn	T	A	2: 76,537,586 (GRCm39)	T26454S	possibly damaging	Het
Ttn	C	T	2: 76,605,122 (GRCm39)	V16555I	probably benign	Het
Tut4	T	A	4: 108,384,042 (GRCm39)		probably benign	Het
Ubr3	T	C	2: 69,850,790 (GRCm39)		probably benign	Het
Vmn1r17	A	C	6: 57,337,460 (GRCm39)	F253V	possibly damaging	Het
Vmn1r201	G	T	13: 22,659,622 (GRCm39)	A279S	possibly damaging	Het
Vmn2r17	A	T	5: 109,575,739 (GRCm39)	R203S	probably benign	Het
Vwa5a	A	G	9: 38,633,926 (GRCm39)	E43G	probably benign	Het
Wdr86	C	T	5: 24,917,843 (GRCm39)		probably null	Het
Wdsub1	A	T	2: 59,700,758 (GRCm39)		probably benign	Het
Zcchc7	T	C	4: 44,931,039 (GRCm39)	L76P	probably damaging	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp263	T	C	16: 3,566,992 (GRCm39)	C148R	probably damaging	Het
Zfp687	A	C	3: 94,917,697 (GRCm39)	F692V	probably damaging	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
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
R5068:Add2	UTSW	6	86,084,440 (GRCm39)	missense	probably damaging	0.97
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'- AGCATTACTCTGATTGCCCC -3'
(R):5'- TCCCCGTGACAAACTCTTAC -3'

Sequencing Primer
(F):5'- ATTACTCTGATTGCCCCCTTTTGG -3'
(R):5'- TCTTACCAACTAACAGCAGCTCTCTG -3'

Posted On

2016-05-10