Mutagenetix > Incidental Mutation

Incidental Mutation 'R7487:Add2'

580244

Institutional Source

Beutler Lab

Gene Symbol

Add2

Ensembl Gene

ENSMUSG00000030000

Gene Name

adducin 2

Synonyms

2900072M03Rik

MMRRC Submission

045561-MU

Accession Numbers

Essential gene?

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

Stock #

R7487 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86005663-86101391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86070432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 175 (V175F)

Ref Sequence

ENSEMBL: ENSMUSP00000032069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032069] [ENSMUST00000203196] [ENSMUST00000203279] [ENSMUST00000203366] [ENSMUST00000203445] [ENSMUST00000203724] [ENSMUST00000203786] [ENSMUST00000204059] [ENSMUST00000205034]

AlphaFold

Q9QYB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032069
AA Change: V175F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032069
Gene: ENSMUSG00000030000
AA Change: V175F

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
AA Change: V175F

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000145104
Gene: ENSMUSG00000030000
AA Change: V175F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203279
AA Change: V175F

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145452
Gene: ENSMUSG00000030000
AA Change: V175F

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
AA Change: V175F

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144849
Gene: ENSMUSG00000030000
AA Change: V175F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203445
AA Change: V175F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145494
Gene: ENSMUSG00000030000
AA Change: V175F

Domain	Start	End	E-Value	Type
Pfam:Aldolase_II	135	184	7.3e-5	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203724
AA Change: V175F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145296
Gene: ENSMUSG00000030000
AA Change: V175F

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

possibly damaging
Transcript: ENSMUST00000203786
AA Change: V175F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144694
Gene: ENSMUSG00000030000
AA Change: V175F

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

possibly damaging
Transcript: ENSMUST00000204059
AA Change: V175F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145160
Gene: ENSMUSG00000030000
AA Change: V175F

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
AA Change: V175F

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000145034
Gene: ENSMUSG00000030000
AA Change: V175F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (89/89)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,772,629 (GRCm39)	D606V	probably damaging	Het
1700009N14Rik	T	A	4: 39,450,929 (GRCm39)	V45E	probably damaging	Het
2510009E07Rik	C	T	16: 21,472,479 (GRCm39)	V74M	probably damaging	Het
Abca2	C	T	2: 25,327,915 (GRCm39)	T739M	probably benign	Het
Abra	T	C	15: 41,732,949 (GRCm39)	E39G	probably damaging	Het
Adam34	A	T	8: 44,104,191 (GRCm39)	C485S	probably damaging	Het
Alk	T	A	17: 72,256,893 (GRCm39)	K655N	probably benign	Het
Ap3m1	A	G	14: 21,088,107 (GRCm39)	V317A	probably benign	Het
Astn1	A	G	1: 158,438,352 (GRCm39)		probably null	Het
Atm	A	T	9: 53,435,654 (GRCm39)	Y219N	probably benign	Het
Cep128	C	T	12: 90,966,404 (GRCm39)	A1068T	probably benign	Het
Cep20	T	C	16: 14,128,968 (GRCm39)	D85G	probably benign	Het
Cnksr3	T	C	10: 7,085,097 (GRCm39)	Q250R	probably benign	Het
Cst7	A	G	2: 150,419,624 (GRCm39)	T97A	probably benign	Het
Ctps1	G	A	4: 120,415,997 (GRCm39)	L209F	probably damaging	Het
Cyp2d10	A	T	15: 82,288,793 (GRCm39)	F230I	probably benign	Het
Daam2	T	C	17: 49,793,510 (GRCm39)	N336D	probably benign	Het
Dchs2	T	C	3: 83,263,613 (GRCm39)	S3294P	probably damaging	Het
Dhx36	G	T	3: 62,391,623 (GRCm39)	N574K	possibly damaging	Het
Dock10	G	T	1: 80,562,765 (GRCm39)	Q533K	probably benign	Het
Dync2h1	A	G	9: 7,132,041 (GRCm39)	S1589P	probably benign	Het
Enpp3	T	A	10: 24,681,821 (GRCm39)	Y295F	probably benign	Het
Esrrg	T	A	1: 187,878,620 (GRCm39)	Y234N	probably benign	Het
Fadd	A	C	7: 144,134,462 (GRCm39)	V141G	probably damaging	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fam170b	T	A	14: 32,557,776 (GRCm39)	C204S	probably damaging	Het
Fam186a	T	A	15: 99,840,017 (GRCm39)	I2076F	possibly damaging	Het
Fdxacb1	G	A	9: 50,681,519 (GRCm39)	V147I	possibly damaging	Het
Frem2	C	A	3: 53,561,970 (GRCm39)	V846F	probably benign	Het
Fry	G	A	5: 150,338,039 (GRCm39)	S1449N	possibly damaging	Het
Gucy1b2	A	G	14: 62,685,672 (GRCm39)	F98L	probably damaging	Het
Hps1	T	C	19: 42,744,700 (GRCm39)	Y658C	probably damaging	Het
Igkv3-9	T	A	6: 70,565,506 (GRCm39)	L35Q	probably damaging	Het
Irx2	A	G	13: 72,778,739 (GRCm39)	Y101C	probably damaging	Het
Kcnj11	G	T	7: 45,748,265 (GRCm39)	R353S	probably benign	Het
Kyat3	C	T	3: 142,431,955 (GRCm39)	Q228*	probably null	Het
Lama3	T	A	18: 12,552,294 (GRCm39)	D415E	probably benign	Het
Lcn3	G	A	2: 25,656,174 (GRCm39)		probably null	Het
Lin7b	T	C	7: 45,019,364 (GRCm39)	E68G	possibly damaging	Het
Lmbr1	T	A	5: 29,459,262 (GRCm39)	K379M	probably benign	Het
Lrig1	A	G	6: 94,583,099 (GRCm39)	S1006P	probably benign	Het
Lrrc37a	T	G	11: 103,389,045 (GRCm39)	T2127P	unknown	Het
Map4	A	G	9: 109,856,783 (GRCm39)	D151G	probably damaging	Het
Marchf1	A	T	8: 66,908,726 (GRCm39)	T149S	probably benign	Het
Msh4	A	T	3: 153,569,147 (GRCm39)	F809I	probably damaging	Het
Muc16	G	A	9: 18,496,095 (GRCm39)	P6699S	possibly damaging	Het
Mxi1	A	T	19: 53,360,088 (GRCm39)	D270V	probably damaging	Het
Myh6	A	T	14: 55,190,953 (GRCm39)	C907*	probably null	Het
Myo18b	T	C	5: 112,982,299 (GRCm39)	R1145G	possibly damaging	Het
Nkx2-6	A	C	14: 69,409,389 (GRCm39)	N47H	probably benign	Het
Nol7	G	A	13: 43,552,076 (GRCm39)	A66T	probably damaging	Het
Ntrk3	T	C	7: 77,900,461 (GRCm39)	N626S	probably damaging	Het
Nwd1	A	G	8: 73,393,266 (GRCm39)	Y77C	unknown	Het
Or12d17	G	T	17: 37,777,457 (GRCm39)	R120L	probably damaging	Het
Or12k5	A	C	2: 36,894,786 (GRCm39)	V280G	probably damaging	Het
Or8c14-ps1	A	G	9: 38,101,356 (GRCm39)	S112G	probably damaging	Het
Or8j3b	A	T	2: 86,205,475 (GRCm39)	Y94N	probably damaging	Het
Or9s23	G	A	1: 92,501,517 (GRCm39)	G208D	possibly damaging	Het
Otop3	A	G	11: 115,235,826 (GRCm39)	D486G	probably benign	Het
Pak1ip1	A	G	13: 41,162,731 (GRCm39)	K178R	probably benign	Het
Pcsk1	G	A	13: 75,259,002 (GRCm39)	G259S	probably benign	Het
Pde6a	A	G	18: 61,383,031 (GRCm39)	D338G	probably damaging	Het
Pias4	A	T	10: 80,999,806 (GRCm39)	D82E	probably benign	Het
Plekha5	C	A	6: 140,516,059 (GRCm39)	Q771K	probably benign	Het
Plekhh3	C	A	11: 101,056,405 (GRCm39)	A397S	possibly damaging	Het
Prg4	G	T	1: 150,331,656 (GRCm39)	T339N	unknown	Het
Prss22	A	T	17: 24,216,971 (GRCm39)	I3N	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rspo2	T	C	15: 42,941,510 (GRCm39)	T138A	probably benign	Het
Rtcb	C	T	10: 85,789,333 (GRCm39)	G70S	probably benign	Het
Selenov	A	T	7: 27,989,803 (GRCm39)	S234T	probably damaging	Het
Shtn1	T	C	19: 58,992,292 (GRCm39)	T429A	probably damaging	Het
Slc4a3	G	T	1: 75,530,021 (GRCm39)	R622L	probably benign	Het
Smc2	T	C	4: 52,478,448 (GRCm39)	I1015T	probably damaging	Het
Spata9	G	T	13: 76,115,959 (GRCm39)	V3F	possibly damaging	Het
Tlr4	T	C	4: 66,842,659 (GRCm39)	I105T	probably benign	Het
Trav6d-4	A	T	14: 52,991,096 (GRCm39)	Y47F	possibly damaging	Het
Ttn	A	T	2: 76,657,377 (GRCm39)	I12450N	unknown	Het
Umad1	G	T	6: 8,270,560 (GRCm39)	A21S	probably damaging	Het
Unc5a	G	A	13: 55,144,362 (GRCm39)	R229H	probably benign	Het
Vmn1r216	A	T	13: 23,284,030 (GRCm39)	M238L	probably damaging	Het
Vps16	T	A	2: 130,280,977 (GRCm39)	C255*	probably null	Het
Wdr89	A	G	12: 75,679,388 (GRCm39)	F289L	probably benign	Het
Zfp180	A	T	7: 23,805,525 (GRCm39)	H648L	probably damaging	Het
Zfp735	A	G	11: 73,581,154 (GRCm39)	K64E	possibly damaging	Het
Zfp990	G	A	4: 145,264,157 (GRCm39)	C385Y	probably damaging	Het
Zswim3	G	T	2: 164,662,135 (GRCm39)	S205I	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
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
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'- TGGAAGCTCCATTTCCACAG -3'
(R):5'- ATGCTTTAGGAACCTATTGTGGC -3'

Sequencing Primer
(F):5'- GGAAGCTCCATTTCCACAGTTTAAAG -3'
(R):5'- GGAACCTATTGTGGCCATACATC -3'

Posted On

2019-10-07