Mutagenetix > Incidental Mutations

Incidental Mutation 'R2029:Anxa2'

220992

Institutional Source

Beutler Lab

Gene Symbol

Anxa2

Ensembl Gene

ENSMUSG00000032231

Gene Name

annexin A2

Synonyms

lipocortin II, annexin II, Cal1h, 36-kDa calelectrin

MMRRC Submission

040036-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2029 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

69453620-69491795 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69464480 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 2 (S2T)

Ref Sequence

ENSEMBL: ENSMUSP00000117979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034756] [ENSMUST00000123470] [ENSMUST00000134907]

Predicted Effect

probably benign
Transcript: ENSMUST00000034756
AA Change: S2T

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034756
Gene: ENSMUSG00000032231
AA Change: S2T

Domain	Start	End	E-Value	Type
ANX	50	102	5.79e-20	SMART
ANX	122	174	1.5e-27	SMART
ANX	207	259	8.2e-11	SMART
ANX	282	334	1.6e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123470
AA Change: S2T

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122175
Gene: ENSMUSG00000032231
AA Change: S2T

Domain	Start	End	E-Value	Type
ANX	50	102	5.79e-20	SMART
ANX	122	174	1.5e-27	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134907
AA Change: S2T

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117979
Gene: ENSMUSG00000032231
AA Change: S2T

Domain	Start	End	E-Value	Type
ANX	50	102	5.79e-20	SMART
ANX	122	174	1.5e-27	SMART

Meta Mutation Damage Score

0.154

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (97/99)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are viable and fertile but suffer from growth deficits, impaired angiogenesis, and increased susceptibility to thrombosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	G	T	17: 33,067,624	S68*	probably null	Het
9130409I23Rik	T	A	1: 181,054,931	I86K	probably benign	Het
Adam18	C	G	8: 24,650,877	G286A	probably damaging	Het
Adcy1	G	A	11: 7,139,142	A519T	probably benign	Het
AI314180	G	A	4: 58,844,165	R534*	probably null	Het
Ap3m1	G	A	14: 21,039,149	S261L	possibly damaging	Het
Asna1	A	T	8: 85,019,774	Y148*	probably null	Het
Baz2b	A	T	2: 59,912,723		probably benign	Het
Brdt	T	A	5: 107,359,224	S497T	probably benign	Het
Cdh11	A	G	8: 102,679,772	F23S	probably benign	Het
Cdh16	A	C	8: 104,617,802	L540R	probably damaging	Het
Ces5a	A	T	8: 93,534,577	L74Q	probably damaging	Het
Cfap69	A	G	5: 5,604,306	S543P	probably damaging	Het
Cfap74	T	C	4: 155,442,081	I763T	possibly damaging	Het
Cma1	T	A	14: 55,943,734	R58S	possibly damaging	Het
Csmd3	C	T	15: 47,838,579	D1599N	probably damaging	Het
Cyld	A	G	8: 88,745,312	K857R	probably benign	Het
Cyp3a16	T	C	5: 145,451,857	D270G	probably damaging	Het
D1Pas1	T	C	1: 186,968,089	S72P	possibly damaging	Het
Ddx3y	T	C	Y: 1,266,389	E331G	probably benign	Het
Dis3l2	T	C	1: 86,854,467		probably benign	Het
Dopey1	G	T	9: 86,521,365	W1539C	probably damaging	Het
Dopey2	A	G	16: 93,769,435	K917E	probably benign	Het
Efcab3	T	C	11: 105,100,025	I5462T	probably damaging	Het
Epo	A	G	5: 137,485,185		probably benign	Het
Figla	T	A	6: 86,020,642		probably benign	Het
Flvcr1	T	C	1: 191,021,156	D273G	probably benign	Het
Fryl	T	A	5: 73,022,122	R304*	probably null	Het
Gcm1	T	G	9: 78,065,044	D422E	possibly damaging	Het
Ggt6	A	G	11: 72,437,541	D251G	possibly damaging	Het
Git2	A	G	5: 114,766,450		probably null	Het
Gm18856	A	T	13: 13,964,791		probably benign	Het
Gm20939	T	A	17: 94,875,824		probably benign	Het
Gm5039	A	T	12: 88,321,421	S21T	unknown	Het
Gm7534	T	C	4: 134,202,358	K212R	possibly damaging	Het
Gpr176	A	G	2: 118,279,432	Y449H	probably benign	Het
H2-Eb1	A	G	17: 34,314,392	E196G	probably damaging	Het
H2-M10.6	A	G	17: 36,813,907	T239A	possibly damaging	Het
Haus5	T	C	7: 30,659,400	N237S	possibly damaging	Het
Hectd3	T	C	4: 117,000,685	M605T	probably damaging	Het
Hps3	T	C	3: 20,030,527	I166V	probably benign	Het
Ighv5-21	A	T	12: 114,322,814		probably benign	Het
Kdm6b	C	T	11: 69,403,592	G1218D	unknown	Het
Klhl30	A	G	1: 91,357,914		probably null	Het
Kmt2a	A	T	9: 44,818,450	S3523R	probably benign	Het
Lnpep	A	T	17: 17,568,399	N481K	probably damaging	Het
Lrp1b	T	C	2: 41,341,849	H1203R	probably benign	Het
Lrrc8a	C	T	2: 30,256,649	R492W	probably damaging	Het
Magel2	T	A	7: 62,380,594	V1082D	unknown	Het
Memo1	A	C	17: 74,245,054	H82Q	probably null	Het
Myh13	A	T	11: 67,361,289	T1408S	probably benign	Het
Myh2	A	T	11: 67,194,625	N1792Y	possibly damaging	Het
Myo1e	A	T	9: 70,368,687	N728I	possibly damaging	Het
Myo1e	T	C	9: 70,378,715		probably benign	Het
Myo5c	T	C	9: 75,289,055		probably benign	Het
Olfr1205	T	A	2: 88,831,405	M96K	possibly damaging	Het
Olfr323	T	A	11: 58,625,493	L184F	probably damaging	Het
Olfr378	A	G	11: 73,425,362	V207A	probably benign	Het
Olfr578	T	A	7: 102,984,271	T298S	probably damaging	Het
Olfr594	T	C	7: 103,219,760	F14S	probably damaging	Het
Olfr715b	T	C	7: 107,106,436	I142V	probably benign	Het
Parp2	C	T	14: 50,810,086	A18V	probably benign	Het
Peli1	T	A	11: 21,148,110	C282S	probably damaging	Het
Piezo2	T	C	18: 63,118,935	M404V	possibly damaging	Het
Pkn1	T	A	8: 83,677,963	Q496L	possibly damaging	Het
Pla2r1	A	T	2: 60,431,973	F1093L	probably damaging	Het
Ppp2r3a	A	G	9: 101,145,481	V323A	probably damaging	Het
Pramef25	T	A	4: 143,949,883	Y217F	probably benign	Het
Prg2	C	T	2: 84,981,998		probably benign	Het
Ptprb	G	A	10: 116,347,053	G1545S	probably benign	Het
Rbm19	A	G	5: 120,120,242	D174G	possibly damaging	Het
Rhbdf2	T	A	11: 116,601,148	T526S	probably damaging	Het
Rpusd4	A	G	9: 35,268,014	N42S	probably benign	Het
Ryr3	T	A	2: 112,647,016	Q4455L	possibly damaging	Het
Sema4a	G	T	3: 88,451,361	H30Q	probably damaging	Het
Skint1	G	A	4: 112,021,456		probably null	Het
Slc1a3	A	G	15: 8,645,669	V284A	probably benign	Het
Slc30a9	A	T	5: 67,339,975	K288*	probably null	Het
Slc36a1	G	T	11: 55,228,338	A380S	probably benign	Het
Slc47a1	G	A	11: 61,378,007		probably benign	Het
Snx19	A	T	9: 30,429,000	E478V	probably benign	Het
Spag6	T	C	2: 18,734,105		probably benign	Het
Stag1	A	T	9: 100,786,687	T223S	probably damaging	Het
Terb1	A	T	8: 104,498,100		probably benign	Het
Terf1	A	G	1: 15,805,946	D90G	possibly damaging	Het
Tex15	A	G	8: 33,571,274	D518G	probably damaging	Het
Tmem174	T	A	13: 98,637,038	M95L	possibly damaging	Het
Tnnt3	GTCCAGGCATCTC	GTC	7: 142,512,627		probably benign	Het
Usp28	A	G	9: 48,985,503	D8G	probably benign	Het
Vmn2r105	T	C	17: 20,224,578	T551A	probably damaging	Het
Vmn2r107	A	G	17: 20,375,287	I701V	probably benign	Het
Vmn2r13	A	C	5: 109,192,077	F11V	probably benign	Het
Vmn2r85	G	C	10: 130,425,574	S298*	probably null	Het
Wdr6	C	G	9: 108,575,355	W443S	probably damaging	Het
Wipi1	A	G	11: 109,583,190	V210A	probably damaging	Het
Zfp317	A	G	9: 19,645,236	T47A	probably benign	Het
Zfp61	T	C	7: 24,292,289	T146A	probably benign	Het
Zfp964	A	G	8: 69,663,917	E389G	unknown	Het
Zfyve16	T	C	13: 92,504,477	D1253G	probably damaging	Het
Zswim7	G	A	11: 62,267,473		probably benign	Het

Other mutations in Anxa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Anxa2	APN	9	69483019	nonsense	probably null
IGL02550:Anxa2	APN	9	69467306	missense	probably benign	0.00
FR4342:Anxa2	UTSW	9	69480205	small insertion	probably benign
FR4342:Anxa2	UTSW	9	69480210	small insertion	probably benign
FR4548:Anxa2	UTSW	9	69480203	small insertion	probably benign
FR4589:Anxa2	UTSW	9	69480210	small insertion	probably benign
R1480:Anxa2	UTSW	9	69489754	frame shift	probably null
R1482:Anxa2	UTSW	9	69489754	frame shift	probably null
R1519:Anxa2	UTSW	9	69485241	missense	probably damaging	1.00
R1609:Anxa2	UTSW	9	69489754	frame shift	probably null
R1610:Anxa2	UTSW	9	69489754	frame shift	probably null
R1624:Anxa2	UTSW	9	69479708	missense	probably benign	0.10
R1672:Anxa2	UTSW	9	69489754	frame shift	probably null
R1696:Anxa2	UTSW	9	69489754	frame shift	probably null
R1760:Anxa2	UTSW	9	69489767	missense	probably benign	0.00
R1775:Anxa2	UTSW	9	69488081	missense	possibly damaging	0.93
R1828:Anxa2	UTSW	9	69482978	missense	probably damaging	1.00
R1884:Anxa2	UTSW	9	69489754	frame shift	probably null
R1991:Anxa2	UTSW	9	69483816	missense	probably damaging	1.00
R2020:Anxa2	UTSW	9	69483817	missense	probably damaging	0.99
R2103:Anxa2	UTSW	9	69483816	missense	probably damaging	1.00
R2129:Anxa2	UTSW	9	69476128	missense	possibly damaging	0.48
R2146:Anxa2	UTSW	9	69489754	frame shift	probably null
R2148:Anxa2	UTSW	9	69489754	frame shift	probably null
R2149:Anxa2	UTSW	9	69489754	frame shift	probably null
R2150:Anxa2	UTSW	9	69489754	frame shift	probably null
R2437:Anxa2	UTSW	9	69489764	missense	probably damaging	1.00
R3848:Anxa2	UTSW	9	69467342	missense	probably damaging	1.00
R4036:Anxa2	UTSW	9	69488070	missense	probably damaging	0.99
R4565:Anxa2	UTSW	9	69489737	missense	probably damaging	1.00
R4731:Anxa2	UTSW	9	69486530	missense	probably benign	0.41
R5172:Anxa2	UTSW	9	69485251	missense	probably damaging	0.99
R5181:Anxa2	UTSW	9	69476065	missense	probably benign	0.00
R6427:Anxa2	UTSW	9	69476149	critical splice donor site	probably null
R6759:Anxa2	UTSW	9	69483821	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTTAACTTTCCCAGTGGTAAG -3'
(R):5'- ATGAGGAACCCAGGCACTAG -3'

Sequencing Primer
(F):5'- CAGAGAATTGCCTGCTTGAAAC -3'
(R):5'- CACTAGGGAGACGCCTAATAATGAC -3'

Posted On

2014-08-25