Mutagenetix > Incidental Mutation

Incidental Mutation 'R1959:Add2'

218140

Institutional Source

Beutler Lab

Gene Symbol

Add2

Ensembl Gene

ENSMUSG00000030000

Gene Name

adducin 2 (beta)

Synonyms

MMRRC Submission

039973-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R1959 (G1)

Quality Score

121

Status

Not validated

Chromosome

Chromosomal Location

86028681-86124409 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86096756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 209 (F209S)

Ref Sequence

ENSEMBL: ENSMUSP00000145034 (fasta)

Gene Model

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

AlphaFold

Q9QYB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000032069
AA Change: F209S

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

SMART Domains

Protein: ENSMUSP00000032069
Gene: ENSMUSG00000030000
AA Change: F209S

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: F209S

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

SMART Domains

Protein: ENSMUSP00000145104
Gene: ENSMUSG00000030000
AA Change: F209S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000203279
AA Change: F209S

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

SMART Domains

Protein: ENSMUSP00000145452
Gene: ENSMUSG00000030000
AA Change: F209S

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: F209S

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

SMART Domains

Protein: ENSMUSP00000144849
Gene: ENSMUSG00000030000
AA Change: F209S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203445

SMART Domains

Protein: ENSMUSP00000145494
Gene: ENSMUSG00000030000

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203529

Predicted Effect

probably damaging
Transcript: ENSMUST00000203724
AA Change: F209S

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

SMART Domains

Protein: ENSMUSP00000145296
Gene: ENSMUSG00000030000
AA Change: F209S

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: F209S

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

SMART Domains

Protein: ENSMUSP00000144694
Gene: ENSMUSG00000030000
AA Change: F209S

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: F209S

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

SMART Domains

Protein: ENSMUSP00000145160
Gene: ENSMUSG00000030000
AA Change: F209S

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: F209S

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

SMART Domains

Protein: ENSMUSP00000145034
Gene: ENSMUSG00000030000
AA Change: F209S

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

Meta Mutation Damage Score

0.9166

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	G	6: 96,165,269	S265P	possibly damaging	Het
Abcc1	T	C	16: 14,396,393	Y191H	probably damaging	Het
Aco1	T	C	4: 40,167,193		probably null	Het
Adap1	A	G	5: 139,273,341	Y364H	probably benign	Het
Adgb	A	T	10: 10,395,249	D883E	probably benign	Het
Als2cr12	A	T	1: 58,659,278	V327D	possibly damaging	Het
Anapc1	C	A	2: 128,633,415	R1381S	probably benign	Het
Aoah	A	G	13: 20,794,394	M1V	probably null	Het
Arap1	C	A	7: 101,373,015	A8E	probably damaging	Het
Arhgap10	A	G	8: 77,409,626	F319S	possibly damaging	Het
Btrc	T	G	19: 45,527,343	I480S	probably damaging	Het
Cabin1	A	T	10: 75,735,090	V784E	possibly damaging	Het
Card9	T	A	2: 26,354,873		probably null	Het
Cdk18	A	G	1: 132,117,821	I238T	possibly damaging	Het
Clec12a	A	C	6: 129,350,481	T21P	possibly damaging	Het
Commd3	A	T	2: 18,673,963	I70F	probably benign	Het
Cspg5	G	A	9: 110,251,026	V340M	probably damaging	Het
Cyb5r4	G	A	9: 87,055,849	S307N	possibly damaging	Het
Cyp26c1	T	A	19: 37,687,377	F230I	probably damaging	Het
Ddx11	A	G	17: 66,130,728	M150V	probably benign	Het
Dennd4b	A	G	3: 90,268,773	Y190C	probably damaging	Het
Det1	A	G	7: 78,843,443	V271A	probably benign	Het
Dgkd	C	A	1: 87,929,827	P754T	possibly damaging	Het
Dhx36	T	C	3: 62,479,385	S649G	probably benign	Het
Dlgap5	A	G	14: 47,416,386	I62T	possibly damaging	Het
Dmgdh	A	G	13: 93,720,559	M724V	probably benign	Het
Dnah7a	A	G	1: 53,684,983	S108P	probably benign	Het
Dock4	A	T	12: 40,710,798	K495M	probably damaging	Het
Dse	A	G	10: 34,160,206	Y225H	probably damaging	Het
Emx1	G	A	6: 85,203,934	R211K	probably damaging	Het
Ergic2	A	G	6: 148,199,354		probably null	Het
Fbxo27	G	A	7: 28,698,372	C277Y	possibly damaging	Het
Fcrl1	T	C	3: 87,376,520	I9T	possibly damaging	Het
Fjx1	T	C	2: 102,450,807	E261G	probably benign	Het
Flnb	C	T	14: 7,884,735	Q445*	probably null	Het
Flrt2	G	A	12: 95,780,300	V471I	probably benign	Het
Frmd4a	G	A	2: 4,535,186	V210M	probably damaging	Het
Fsip2	A	G	2: 82,991,550	K5876E	probably benign	Het
Galnt10	T	C	11: 57,765,617	L209P	probably damaging	Het
Gata5	A	T	2: 180,326,936	S382T	possibly damaging	Het
Glt6d1	C	A	2: 25,794,413	V194L	probably damaging	Het
Gm10803	T	G	2: 93,563,943	V20G	unknown	Het
Gm44511	T	G	6: 128,820,271	T52P	probably damaging	Het
Gpat4	A	T	8: 23,182,936	L88Q	possibly damaging	Het
Gpr15	T	A	16: 58,718,007	I240L	probably benign	Het
Hivep2	A	T	10: 14,132,709	I1684F	probably benign	Het
Hmcn1	T	C	1: 150,649,676	T3366A	probably benign	Het
Hnmt	A	G	2: 24,003,882	V200A	possibly damaging	Het
Hps6	A	T	19: 46,004,335	H237L	probably benign	Het
Hspg2	C	T	4: 137,564,895	P4033S	probably damaging	Het
Irf9	T	A	14: 55,607,717	S297T	possibly damaging	Het
Kdm3b	T	C	18: 34,812,395	V753A	possibly damaging	Het
Kif21a	G	A	15: 90,970,848	A703V	probably damaging	Het
Kif27	T	G	13: 58,293,123	R1159S	probably benign	Het
Krtap4-16	A	G	11: 99,851,547	V9A	unknown	Het
Lama2	G	T	10: 27,422,618	P161T	probably damaging	Het
Ltbp4	G	A	7: 27,329,018	P273L	unknown	Het
Lvrn	T	A	18: 46,894,717	S866R	probably damaging	Het
Med13	A	G	11: 86,298,979	Y1035H	probably damaging	Het
Mertk	T	A	2: 128,759,090	N331K	probably damaging	Het
Mios	T	A	6: 8,215,437	F211Y	probably benign	Het
Mpeg1	G	A	19: 12,462,911	V578M	probably damaging	Het
Mphosph9	A	T	5: 124,315,701	S183T	possibly damaging	Het
Mrto4	A	T	4: 139,349,638	I56N	probably damaging	Het
Muc5b	T	C	7: 141,862,637	C3107R	possibly damaging	Het
Ncoa2	A	G	1: 13,160,252	Y1023H	probably damaging	Het
Nlrp2	T	C	7: 5,327,738	E553G	probably damaging	Het
Nlrp6	GAGAAGAAGAAGAAGAAGAAGA	GAGAAGAAGAAGAAGAAGA	7: 140,924,113		probably benign	Het
Nr2f1	T	C	13: 78,189,816	T237A	probably damaging	Het
Nup205	C	A	6: 35,233,366	Q1621K	probably benign	Het
Nxpe2	T	A	9: 48,319,726	S448C	probably benign	Het
Ogdh	T	A	11: 6,346,638	C498S	possibly damaging	Het
Olfr1176	T	C	2: 88,340,201	L212P	probably damaging	Het
Olfr281	T	C	15: 98,456,753	S148P	probably damaging	Het
Olfr294	A	T	7: 86,616,431	F71L	probably benign	Het
Olfr414	A	T	1: 174,430,905	K159M	probably damaging	Het
Olfr697	T	C	7: 106,741,394	E180G	probably damaging	Het
Olfr715	A	T	7: 107,128,510	D294E	possibly damaging	Het
Olfr994	T	C	2: 85,430,619	D70G	probably damaging	Het
Oplah	G	A	15: 76,297,464	T1119I	probably damaging	Het
Pcdhb9	T	A	18: 37,403,316	Y788N	probably damaging	Het
Pcsk5	T	C	19: 17,433,418	D1870G	unknown	Het
Pde6g	A	G	11: 120,448,136	L76P	probably damaging	Het
Peak1	A	T	9: 56,206,789	Y593N	probably damaging	Het
Pfas	C	T	11: 68,994,284	G16R	probably damaging	Het
Pkd1l2	A	T	8: 117,043,231		probably null	Het
Pla2g3	C	T	11: 3,490,983	T316I	probably benign	Het
Ptpru	T	A	4: 131,803,477	I489F	probably damaging	Het
Rere	T	G	4: 150,468,790	H146Q	probably benign	Het
Rundc1	A	T	11: 101,431,496	Q272L	probably damaging	Het
Scml4	T	C	10: 42,956,021	L305P	probably damaging	Het
Sec16a	A	T	2: 26,430,132	H1431Q	probably benign	Het
Serpina1a	G	A	12: 103,853,800	Q373*	probably null	Het
Shank1	A	T	7: 44,325,377	N377I	unknown	Het
Shc2	T	C	10: 79,626,791		probably null	Het
Slc22a29	C	A	19: 8,169,193	R415M	probably benign	Het
Slc7a2	A	T	8: 40,914,965	I589F	probably damaging	Het
Smim8	C	T	4: 34,771,316	R26Q	probably damaging	Het
Smox	C	A	2: 131,520,464	A221D	probably damaging	Het
Sox5	A	G	6: 143,874,105	S62P	possibly damaging	Het
Spg21	A	C	9: 65,484,492	K240N	probably damaging	Het
Sv2c	C	T	13: 95,976,645	V599M	probably damaging	Het
Tanc2	T	A	11: 105,910,295	H1112Q	probably damaging	Het
Tbata	T	C	10: 61,175,844	I58T	possibly damaging	Het
Tbc1d2	T	G	4: 46,606,419	Y842S	probably benign	Het
Tctn1	A	T	5: 122,241,840		probably null	Het
Tenm1	T	C	X: 42,827,201	D402G	probably benign	Het
Tfcp2l1	T	C	1: 118,669,389	V400A	probably benign	Het
Tm9sf2	T	A	14: 122,126,164	L99I	probably benign	Het
Top2a	T	C	11: 98,995,977		probably null	Het
Traf7	C	A	17: 24,513,281	G191C	probably damaging	Het
Trpm1	T	A	7: 64,230,230	L661Q	probably damaging	Het
Ttc30b	C	T	2: 75,937,099	E437K	probably benign	Het
Ttn	T	C	2: 76,750,623	I23309V	probably benign	Het
Usp50	T	C	2: 126,777,961	K199E	possibly damaging	Het
Vmn1r218	T	C	13: 23,136,513	F10S	probably damaging	Het
Vmn2r89	C	A	14: 51,457,440	T459K	probably benign	Het
Vps13a	T	G	19: 16,677,938	S1909R	possibly damaging	Het
Vwa5b2	T	C	16: 20,602,191		probably null	Het
Vwa8	A	G	14: 78,982,360	H516R	possibly damaging	Het
Wnk1	T	C	6: 119,969,247	I648M	probably damaging	Het
Zfat	G	C	15: 68,146,543	P974R	probably benign	Het
Zfc3h1	T	A	10: 115,423,253	I1601K	probably benign	Het
Zfp239	A	G	6: 117,871,817	K172R	probably benign	Het
Zfp335	C	T	2: 164,894,802	G971D	probably damaging	Het
Zfp532	A	T	18: 65,624,492	I499F	probably damaging	Het
Zfp647	T	C	15: 76,911,114	T449A	possibly damaging	Het
Zfp938	C	T	10: 82,225,631	G385D	probably damaging	Het
Zfp959	T	G	17: 55,897,404	V147G	probably damaging	Het
Znfx1	A	T	2: 167,050,350	C649S	probably damaging	Het

Other mutations in Add2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02689:Add2	APN	6	86107406	missense	possibly damaging	0.94
IGL02799:Add2	UTSW	6	86106252	missense	possibly damaging	0.65
R0012:Add2	UTSW	6	86098628	missense	probably damaging	0.98
R0448:Add2	UTSW	6	86092919	missense	probably benign	0.05
R0452:Add2	UTSW	6	86104629	nonsense	probably null
R0834:Add2	UTSW	6	86086917	missense	probably damaging	0.99
R1220:Add2	UTSW	6	86087000	missense	possibly damaging	0.92
R1598:Add2	UTSW	6	86098646	missense	probably benign	0.03
R1806:Add2	UTSW	6	86118657	missense	probably damaging	0.96
R1837:Add2	UTSW	6	86118558	missense	probably damaging	1.00
R1961:Add2	UTSW	6	86096756	missense	probably damaging	1.00
R2152:Add2	UTSW	6	86098598	missense	probably damaging	1.00
R2309:Add2	UTSW	6	86096801	missense	probably damaging	1.00
R4744:Add2	UTSW	6	86110888	missense	probably damaging	1.00
R4789:Add2	UTSW	6	86118770	missense	probably benign	0.04
R4896:Add2	UTSW	6	86096746	missense	probably benign	0.03
R4989:Add2	UTSW	6	86110858	missense	probably benign	0.10
R5004:Add2	UTSW	6	86096746	missense	probably benign	0.03
R5061:Add2	UTSW	6	86087047	splice site	probably null
R5068:Add2	UTSW	6	86107458	missense	probably damaging	0.97
R5405:Add2	UTSW	6	86101197	missense	probably benign	0.09
R5418:Add2	UTSW	6	86110912	missense	probably benign	0.00
R5576:Add2	UTSW	6	86107475	critical splice donor site	probably null
R5952:Add2	UTSW	6	86109746	missense	probably damaging	1.00
R6011:Add2	UTSW	6	86098625	missense	probably damaging	1.00
R6031:Add2	UTSW	6	86098673	missense	probably damaging	1.00
R6031:Add2	UTSW	6	86098673	missense	probably damaging	1.00
R7026:Add2	UTSW	6	86086983	missense	probably benign	0.39
R7158:Add2	UTSW	6	86085952	missense	probably damaging	1.00
R7387:Add2	UTSW	6	86086015	missense	probably damaging	1.00
R7393:Add2	UTSW	6	86098647	nonsense	probably null
R7487:Add2	UTSW	6	86093450	missense	possibly damaging	0.94
R7511:Add2	UTSW	6	86098615	missense	probably benign
R7543:Add2	UTSW	6	86106225	missense	probably damaging	1.00
R8186:Add2	UTSW	6	86108020	missense	probably benign	0.44
R8205:Add2	UTSW	6	86086917	missense	probably damaging	0.99
R9151:Add2	UTSW	6	86104477	splice site	probably benign
Z1088:Add2	UTSW	6	86085965	missense	probably damaging	0.98
Z1176:Add2	UTSW	6	86098590	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAGGACTCACCACAGGCAG -3'
(R):5'- GATGATGACATGGCTATACTCCAG -3'

Sequencing Primer
(F):5'- AGGACTCCCTGTTGCTGTAC -3'
(R):5'- GACATGGCTATACTCCAGATGATATC -3'

Posted On

2014-08-01