Mutagenetix > Incidental Mutation

Incidental Mutation 'R0452:Add2'

39679

Institutional Source

Beutler Lab

Gene Symbol

Add2

Ensembl Gene

ENSMUSG00000030000

Gene Name

adducin 2

Synonyms

2900072M03Rik

MMRRC Submission

038652-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R0452 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

86005663-86101391 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 86081611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 366 (E366*)

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 null
Transcript: ENSMUST00000032069
AA Change: E366*

SMART Domains

Protein: ENSMUSP00000032069
Gene: ENSMUSG00000030000
AA Change: E366*

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 null
Transcript: ENSMUST00000203196
AA Change: E366*

SMART Domains

Protein: ENSMUSP00000145104
Gene: ENSMUSG00000030000
AA Change: E366*

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 null
Transcript: ENSMUST00000203366
AA Change: E366*

SMART Domains

Protein: ENSMUSP00000144849
Gene: ENSMUSG00000030000
AA Change: E366*

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

Predicted Effect

probably null
Transcript: ENSMUST00000203724
AA Change: E366*

SMART Domains

Protein: ENSMUSP00000145296
Gene: ENSMUSG00000030000
AA Change: E366*

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 null
Transcript: ENSMUST00000203786
AA Change: E366*

SMART Domains

Protein: ENSMUSP00000144694
Gene: ENSMUSG00000030000
AA Change: E366*

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 null
Transcript: ENSMUST00000204059
AA Change: E366*

SMART Domains

Protein: ENSMUSP00000145160
Gene: ENSMUSG00000030000
AA Change: E366*

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 null
Transcript: ENSMUST00000205034
AA Change: E366*

SMART Domains

Protein: ENSMUSP00000145034
Gene: ENSMUSG00000030000
AA Change: E366*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

99% (93/94)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	A	G	8: 107,233,822 (GRCm39)		probably benign	Het
Acap3	C	A	4: 155,986,785 (GRCm39)	S347*	probably null	Het
Acvr1	G	A	2: 58,390,507 (GRCm39)	P19L	probably benign	Het
Ankrd28	C	A	14: 31,470,695 (GRCm39)	A153S	probably damaging	Het
Anxa8	A	T	14: 33,816,727 (GRCm39)	I206F	probably damaging	Het
Arhgef4	G	A	1: 34,771,403 (GRCm39)	E1237K	probably damaging	Het
Arid1a	C	T	4: 133,416,416 (GRCm39)	A1120T	unknown	Het
Atad5	T	C	11: 79,997,247 (GRCm39)	V857A	probably damaging	Het
Atp2a3	T	A	11: 72,868,058 (GRCm39)		probably null	Het
Atxn1l	C	T	8: 110,459,027 (GRCm39)	V412I	possibly damaging	Het
Card11	A	G	5: 140,866,125 (GRCm39)	S923P	probably benign	Het
Cars1	C	A	7: 143,146,362 (GRCm39)	E21*	probably null	Het
Ccdc115	A	G	1: 34,476,702 (GRCm39)		probably benign	Het
Ccnj	T	A	19: 40,833,508 (GRCm39)		probably null	Het
Cds2	C	T	2: 132,140,399 (GRCm39)	T182I	probably damaging	Het
Ceacam14	A	G	7: 17,549,248 (GRCm39)	H213R	probably benign	Het
Cfap44	A	T	16: 44,252,308 (GRCm39)	M806L	probably benign	Het
Chd8	A	T	14: 52,452,044 (GRCm39)	I1317K	probably damaging	Het
Cherp	A	T	8: 73,215,366 (GRCm39)		probably benign	Het
Creb5	C	G	6: 53,581,527 (GRCm39)	T30S	possibly damaging	Het
Csf2ra	A	G	19: 61,215,333 (GRCm39)	M94T	probably benign	Het
Cyp2b19	A	C	7: 26,466,187 (GRCm39)	D330A	probably benign	Het
Ddost	G	A	4: 138,037,499 (GRCm39)	V188M	possibly damaging	Het
Dnah7a	A	T	1: 53,644,978 (GRCm39)	D1019E	probably benign	Het
Dtx1	A	T	5: 120,833,057 (GRCm39)	I127N	possibly damaging	Het
Dyrk2	T	C	10: 118,704,668 (GRCm39)	T3A	possibly damaging	Het
Elovl5	C	T	9: 77,868,193 (GRCm39)	T35M	probably damaging	Het
Emc7	T	C	2: 112,297,314 (GRCm39)		probably benign	Het
Erp27	T	C	6: 136,886,487 (GRCm39)	Y182C	probably damaging	Het
Exoc2	T	A	13: 31,070,310 (GRCm39)		probably benign	Het
F5	A	C	1: 164,012,676 (GRCm39)	D530A	probably damaging	Het
Fam149a	A	T	8: 45,808,686 (GRCm39)	V149E	probably damaging	Het
Fbxo41	A	G	6: 85,455,164 (GRCm39)	S614P	probably damaging	Het
Fmn1	T	A	2: 113,467,124 (GRCm39)	Y1342N	possibly damaging	Het
Gpr22	T	A	12: 31,758,793 (GRCm39)	D443V	possibly damaging	Het
Il17rd	T	A	14: 26,813,888 (GRCm39)	W56R	probably damaging	Het
Itga2b	A	T	11: 102,356,779 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,091,261 (GRCm39)	M2514T	probably benign	Het
Klk1b9	T	C	7: 43,443,675 (GRCm39)		probably benign	Het
Krr1	T	C	10: 111,811,503 (GRCm39)	Y66H	probably damaging	Het
Lamb2	T	C	9: 108,363,553 (GRCm39)		probably benign	Het
Lgals3bp	A	T	11: 118,284,290 (GRCm39)	Y430N	probably benign	Het
Lrp10	T	C	14: 54,705,036 (GRCm39)	V113A	probably benign	Het
Mgam	A	G	6: 40,736,024 (GRCm39)	Y841C	probably damaging	Het
Nisch	T	A	14: 30,899,421 (GRCm39)		probably benign	Het
Nlrp4d	G	A	7: 10,112,219 (GRCm39)	T650I	probably benign	Het
Or4f61	T	A	2: 111,922,981 (GRCm39)	K22*	probably null	Het
Or5p78	C	T	7: 108,211,577 (GRCm39)	T21I	possibly damaging	Het
Parp4	A	G	14: 56,886,300 (GRCm39)	D1793G	unknown	Het
Pcm1	A	G	8: 41,778,942 (GRCm39)	D1850G	probably benign	Het
Pgap2	G	A	7: 101,885,669 (GRCm39)	A145T	probably damaging	Het
Phc1	G	A	6: 122,299,995 (GRCm39)	A583V	probably damaging	Het
Plcd3	G	A	11: 102,962,085 (GRCm39)		probably benign	Het
Ppm1m	T	A	9: 106,074,501 (GRCm39)	Q214L	probably damaging	Het
Prkg2	A	G	5: 99,145,379 (GRCm39)		probably benign	Het
Prss3l	A	G	6: 41,422,271 (GRCm39)	Y45H	probably benign	Het
Rasal3	T	C	17: 32,614,791 (GRCm39)		probably benign	Het
Rfc1	A	T	5: 65,421,640 (GRCm39)	D1086E	probably benign	Het
Rnf145	T	A	11: 44,452,587 (GRCm39)	L522H	probably damaging	Het
Setd2	T	A	9: 110,382,168 (GRCm39)		probably null	Het
Sik1	C	A	17: 32,068,055 (GRCm39)	V377F	possibly damaging	Het
Slc44a4	T	C	17: 35,147,071 (GRCm39)	I367T	possibly damaging	Het
Slfn3	A	G	11: 83,103,954 (GRCm39)	D275G	possibly damaging	Het
Smarcad1	A	T	6: 65,051,806 (GRCm39)	N313I	possibly damaging	Het
Smc4	A	T	3: 68,915,361 (GRCm39)	K138*	probably null	Het
Smg6	T	A	11: 74,821,039 (GRCm39)	S437T	probably benign	Het
Spaca9	G	T	2: 28,586,005 (GRCm39)	Q20K	probably damaging	Het
Spatc1	T	G	15: 76,152,493 (GRCm39)	I41S	probably damaging	Het
Spink5	A	T	18: 44,096,385 (GRCm39)	T5S	possibly damaging	Het
St3gal1	C	A	15: 66,981,504 (GRCm39)		probably benign	Het
Stat5a	C	A	11: 100,753,961 (GRCm39)	T97K	probably benign	Het
Stat5b	A	T	11: 100,689,156 (GRCm39)	I246N	probably benign	Het
Supt6	G	T	11: 78,117,829 (GRCm39)	D462E	probably damaging	Het
Swi5	A	T	2: 32,171,836 (GRCm39)		probably benign	Het
Syne1	A	T	10: 5,355,435 (GRCm39)	V375E	probably damaging	Het
Tcp1	T	C	17: 13,143,239 (GRCm39)	F516S	probably benign	Het
Tdrd7	A	T	4: 45,965,488 (GRCm39)		probably benign	Het
Tgfbr3	A	T	5: 107,288,289 (GRCm39)	N457K	probably benign	Het
Tmem209	A	G	6: 30,487,380 (GRCm39)	M500T	probably damaging	Het
Tmem44	C	T	16: 30,336,281 (GRCm39)		probably benign	Het
Ttc21a	T	A	9: 119,768,220 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,701,454 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,666,347 (GRCm39)	I88F	possibly damaging	Het
Ube2w	T	C	1: 16,672,479 (GRCm39)		probably benign	Het
Ufc1	C	T	1: 171,117,527 (GRCm39)		probably benign	Het
Uhmk1	A	G	1: 170,039,971 (GRCm39)	M132T	possibly damaging	Het
Usp29	A	G	7: 6,966,181 (GRCm39)	N675D	possibly damaging	Het
Vmn1r23	A	G	6: 57,903,469 (GRCm39)	V103A	possibly damaging	Het
Wdr59	G	T	8: 112,248,604 (GRCm39)	R4S	possibly damaging	Het
Zc3hav1	T	A	6: 38,284,372 (GRCm39)	E914D	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
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
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'- TGCACACCACAGCAGTTTCAAGG -3'
(R):5'- GTGAGGATGTCTCAGCACTTAGCAG -3'

Sequencing Primer
(F):5'- AGCAGTTTCAAGGACTCCAC -3'
(R):5'- GCAGCTATTGTTCAAGTGAACAC -3'

Posted On

2013-05-23