Mutagenetix > Incidental Mutation

Incidental Mutation 'R2152:Add2'

234379

Institutional Source

Beutler Lab

Gene Symbol

Add2

Ensembl Gene

ENSMUSG00000030000

Gene Name

adducin 2

Synonyms

2900072M03Rik

MMRRC Submission

040155-MU

Accession Numbers

Essential gene?

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

Stock #

R2152 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86005663-86101391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86075580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 243 (L243P)

Ref Sequence

ENSEMBL: ENSMUSP00000145034 (fasta)

Gene Model

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

AlphaFold

Q9QYB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000032069
AA Change: L243P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032069
Gene: ENSMUSG00000030000
AA Change: L243P

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: L243P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145104
Gene: ENSMUSG00000030000
AA Change: L243P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000203279
AA Change: L243P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145452
Gene: ENSMUSG00000030000
AA Change: L243P

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: L243P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144849
Gene: ENSMUSG00000030000
AA Change: L243P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203529

Predicted Effect

probably damaging
Transcript: ENSMUST00000203724
AA Change: L243P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145296
Gene: ENSMUSG00000030000
AA Change: L243P

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: L243P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144694
Gene: ENSMUSG00000030000
AA Change: L243P

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: L243P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145034
Gene: ENSMUSG00000030000
AA Change: L243P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000204059
AA Change: L243P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145160
Gene: ENSMUSG00000030000
AA Change: L243P

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	A	T	1: 90,141,565 (GRCm39)	Y8F	probably benign	Het
Acy1	T	C	9: 106,312,816 (GRCm39)	E175G	probably damaging	Het
Adsl	A	G	15: 80,851,863 (GRCm39)	D407G	probably damaging	Het
Afg3l1	T	G	8: 124,221,575 (GRCm39)	I478S	probably damaging	Het
Aoc1l1	T	A	6: 48,953,473 (GRCm39)	I466N	probably damaging	Het
Arfrp1	T	C	2: 181,001,487 (GRCm39)	T108A	probably benign	Het
Art5	A	G	7: 101,747,407 (GRCm39)	L124P	possibly damaging	Het
Asap2	A	T	12: 21,162,084 (GRCm39)	T14S	probably damaging	Het
Atp2c2	A	G	8: 120,482,841 (GRCm39)	N901S	probably benign	Het
Bbs12	G	T	3: 37,375,309 (GRCm39)	E586*	probably null	Het
Bicd2	G	T	13: 49,533,052 (GRCm39)	C546F	probably damaging	Het
Bid	A	T	6: 120,877,215 (GRCm39)	L42Q	probably damaging	Het
Bpifb9a	A	G	2: 154,102,055 (GRCm39)	K51E	probably benign	Het
Calcr	G	T	6: 3,687,615 (GRCm39)	T424K	probably benign	Het
Cd46	A	G	1: 194,744,721 (GRCm39)	I339T	probably benign	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cntn3	A	G	6: 102,183,498 (GRCm39)	I719T	probably damaging	Het
Cyb5r1	T	C	1: 134,337,363 (GRCm39)	I163T	possibly damaging	Het
Cyp2d26	A	T	15: 82,676,907 (GRCm39)		probably null	Het
Dclk1	A	G	3: 55,154,633 (GRCm39)	Y21C	probably damaging	Het
Dgcr2	G	A	16: 17,709,351 (GRCm39)		probably null	Het
Dhx38	T	C	8: 110,287,306 (GRCm39)	S221G	probably benign	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dnah3	C	T	7: 119,551,236 (GRCm39)	V3028I	probably benign	Het
Dnah6	T	C	6: 73,026,149 (GRCm39)	Y3448C	probably benign	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Epb41l1	A	G	2: 156,356,048 (GRCm39)	D528G	probably damaging	Het
Fat4	A	T	3: 39,037,544 (GRCm39)	Y3732F	probably damaging	Het
Fcsk	T	A	8: 111,615,704 (GRCm39)	T542S	probably benign	Het
Fgfr4	A	T	13: 55,314,777 (GRCm39)	Y640F	probably damaging	Het
Foxo6	T	A	4: 120,125,811 (GRCm39)	D328V	probably benign	Het
Foxp1	A	G	6: 98,993,502 (GRCm39)	L134P	probably damaging	Het
Frem2	G	A	3: 53,424,450 (GRCm39)	R2996*	probably null	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gcn1	T	A	5: 115,747,888 (GRCm39)	I1765N	probably benign	Het
Gm4787	T	A	12: 81,423,993 (GRCm39)	I722F	probably benign	Het
Gpc6	G	T	14: 117,163,504 (GRCm39)	A53S	probably benign	Het
Gtpbp8	A	G	16: 44,560,390 (GRCm39)		probably null	Het
H2-Q2	T	C	17: 35,564,252 (GRCm39)		probably null	Het
Hapln2	C	A	3: 87,930,920 (GRCm39)	R157L	probably benign	Het
Hemgn	C	A	4: 46,396,607 (GRCm39)	E210*	probably null	Het
Hpse	T	A	5: 100,839,269 (GRCm39)	K360*	probably null	Het
Iqcj	A	T	3: 67,962,643 (GRCm39)	E68V	probably damaging	Het
Kat2a	T	C	11: 100,603,172 (GRCm39)		probably benign	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,278,861 (GRCm39)	I371F	probably damaging	Het
Klhl30	C	A	1: 91,285,546 (GRCm39)	A356D	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Micu1	G	T	10: 59,699,110 (GRCm39)	M468I	probably benign	Het
Mrc1	A	G	2: 14,332,675 (GRCm39)	T1292A	probably damaging	Het
Myh8	G	A	11: 67,185,295 (GRCm39)	E849K	probably damaging	Het
Myom3	G	T	4: 135,530,544 (GRCm39)	R1152L	probably benign	Het
Nedd4l	T	A	18: 65,343,401 (GRCm39)	H820Q	probably damaging	Het
Nlrp4g	T	A	9: 124,353,339 (GRCm38)		noncoding transcript	Het
Oga	A	T	19: 45,746,461 (GRCm39)	Y779*	probably null	Het
Or13p5	C	T	4: 118,592,446 (GRCm39)	A240V	possibly damaging	Het
Or1m1	T	C	9: 18,666,391 (GRCm39)	D180G	probably damaging	Het
Or2a51	A	G	6: 43,179,003 (GRCm39)	I142V	probably benign	Het
Or51a39	G	T	7: 102,362,788 (GRCm39)	H277Q	probably benign	Het
Or52j3	A	T	7: 102,835,847 (GRCm39)	D13V	probably benign	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Or8g54	A	T	9: 39,706,943 (GRCm39)	I91F	probably benign	Het
Or9s23	T	C	1: 92,501,630 (GRCm39)	S246P	probably damaging	Het
Otop1	T	A	5: 38,460,194 (GRCm39)	M587K	probably damaging	Het
Pgm5	T	A	19: 24,812,179 (GRCm39)	I118F	probably damaging	Het
Phc2	A	G	4: 128,638,859 (GRCm39)	*41W	probably null	Het
Phf8-ps	T	A	17: 33,285,908 (GRCm39)	D298V	probably damaging	Het
Piezo2	A	T	18: 63,247,112 (GRCm39)	M532K	probably damaging	Het
Pjvk	A	T	2: 76,488,713 (GRCm39)	I295F	probably benign	Het
Popdc2	A	G	16: 38,183,482 (GRCm39)	N155S	possibly damaging	Het
Ppp4r3a	G	T	12: 101,008,826 (GRCm39)	N684K	probably damaging	Het
Prpf4b	T	A	13: 35,084,402 (GRCm39)	M930K	probably benign	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Ptprz1	C	A	6: 23,030,670 (GRCm39)	L1010I	probably damaging	Het
Rabepk	A	T	2: 34,674,562 (GRCm39)	D232E	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Rb1	T	C	14: 73,526,165 (GRCm39)	T169A	probably benign	Het
Rcc2	T	C	4: 140,444,428 (GRCm39)	L373P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rrbp1	A	G	2: 143,796,118 (GRCm39)	L1200P	possibly damaging	Het
Sdk1	A	G	5: 141,778,699 (GRCm39)	N226D	probably damaging	Het
Selenbp1	G	A	3: 94,851,441 (GRCm39)	R398H	probably damaging	Het
Selenoo	A	G	15: 88,983,485 (GRCm39)	M509V	probably benign	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc2a5	T	G	4: 150,210,095 (GRCm39)	S27A	probably damaging	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slc5a9	A	G	4: 111,750,420 (GRCm39)	I146T	possibly damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Snx29	A	G	16: 11,218,707 (GRCm39)	D181G	possibly damaging	Het
Spata31d1c	G	A	13: 65,181,779 (GRCm39)		probably null	Het
Stat5a	C	A	11: 100,764,916 (GRCm39)	T213N	probably benign	Het
Stt3a	A	T	9: 36,659,292 (GRCm39)	V349D	probably damaging	Het
Tcf20	A	T	15: 82,739,803 (GRCm39)	D549E	probably damaging	Het
Thbs2	T	A	17: 14,893,471 (GRCm39)	D903V	probably damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tmc1	A	T	19: 20,834,039 (GRCm39)	N241K	probably benign	Het
Tmem260	G	T	14: 48,715,066 (GRCm39)	R240L	possibly damaging	Het
Tnfaip6	A	T	2: 51,933,742 (GRCm39)	E32D	probably damaging	Het
Trpa1	A	T	1: 14,969,625 (GRCm39)	H381Q	probably damaging	Het
Tsen2	T	C	6: 115,524,936 (GRCm39)	I45T	possibly damaging	Het
Ttc6	G	A	12: 57,752,338 (GRCm39)	V1415I	probably damaging	Het
Ttll7	G	T	3: 146,635,944 (GRCm39)	R426L	probably damaging	Het
Ttn	A	C	2: 76,570,482 (GRCm39)	S26804A	probably damaging	Het
Ubqlnl	A	T	7: 103,797,890 (GRCm39)	C536S	probably benign	Het
Vmn2r73	A	G	7: 85,506,936 (GRCm39)	V792A	probably benign	Het
Zfp345	T	C	2: 150,314,578 (GRCm39)	T320A	probably benign	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	possibly 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
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'- TTACAGCCTTGGAGTGATGTGC -3'
(R):5'- GTCTGACAGTACCACTCCACAG -3'

Sequencing Primer
(F):5'- TGAGAAGCCCTTAGAGTCCTCAG -3'
(R):5'- GTACCACTCCACAGCAACAC -3'

Posted On

2014-10-01