Mutagenetix > Incidental Mutation

Incidental Mutation 'R2146:Anxa2'

233843

Institutional Source

Beutler Lab

Gene Symbol

Anxa2

Ensembl Gene

ENSMUSG00000032231

Gene Name

annexin A2

Synonyms

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

MMRRC Submission

040149-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2146 (G1)

Quality Score

102

Status

Validated

Chromosome

Chromosomal Location

69360978-69399074 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TCCC to TCC at 69397036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034756] [ENSMUST00000123470] [ENSMUST00000136282]

AlphaFold

P07356

Predicted Effect

probably null
Transcript: ENSMUST00000034756

SMART Domains

Protein: ENSMUSP00000034756
Gene: ENSMUSG00000032231

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

SMART Domains

Protein: ENSMUSP00000122175
Gene: ENSMUSG00000032231

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

Predicted Effect

probably null
Transcript: ENSMUST00000136282

SMART Domains

Protein: ENSMUSP00000117855
Gene: ENSMUSG00000032231

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
ANX	55	107	1.5e-27	SMART
ANX	140	192	8.2e-11	SMART
ANX	215	267	1.6e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154591

Meta Mutation Damage Score

0.9755

Coding Region Coverage

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

Validation Efficiency

99% (84/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,324,803 (GRCm39)		probably null	Het
9530002B09Rik	T	A	4: 122,583,198 (GRCm39)	C13*	probably null	Het
Abca12	C	A	1: 71,302,647 (GRCm39)	V2191L	probably benign	Het
Adamts18	G	C	8: 114,571,635 (GRCm39)	A116G	possibly damaging	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgap6	A	G	X: 167,579,496 (GRCm39)	T94A	probably benign	Het
Arhgef5	T	C	6: 43,260,252 (GRCm39)	S1413P	probably damaging	Het
Atg4c	C	A	4: 99,109,463 (GRCm39)	N143K	possibly damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Ccdc185	G	T	1: 182,575,085 (GRCm39)	H535N	possibly damaging	Het
Ccdc57	A	G	11: 120,776,051 (GRCm39)		probably benign	Het
Cd163	A	G	6: 124,286,167 (GRCm39)	H239R	probably damaging	Het
Ceacam2	G	T	7: 25,227,368 (GRCm39)	C166*	probably null	Het
Ces5a	T	A	8: 94,261,327 (GRCm39)	E33D	probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Chsy3	G	A	18: 59,309,544 (GRCm39)	V266I	probably benign	Het
Cpa5	G	T	6: 30,626,821 (GRCm39)	R251L	probably damaging	Het
Cps1	A	C	1: 67,191,538 (GRCm39)		probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cstf1	T	C	2: 172,217,683 (GRCm39)	Y99H	probably damaging	Het
Cyp2j11	G	A	4: 96,204,595 (GRCm39)	T317I	probably damaging	Het
Dcaf8l	T	C	X: 88,449,883 (GRCm39)	D82G	possibly damaging	Het
Dennd3	C	T	15: 73,395,345 (GRCm39)	T146M	probably damaging	Het
Dennd3	A	T	15: 73,426,909 (GRCm39)	H762L	probably benign	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dnajc22	T	C	15: 99,002,264 (GRCm39)	V303A	probably benign	Het
Dtx2	T	G	5: 136,059,464 (GRCm39)	L458R	probably benign	Het
Fat3	A	T	9: 15,901,808 (GRCm39)	F3072L	probably benign	Het
Fgf5	T	C	5: 98,423,409 (GRCm39)	*265R	probably null	Het
Fndc11	A	G	2: 180,863,918 (GRCm39)	E241G	probably damaging	Het
Glb1	T	C	9: 114,279,716 (GRCm39)	Y375H	probably damaging	Het
Gm4922	T	G	10: 18,659,264 (GRCm39)	Q486P	probably benign	Het
Gm5786	A	T	12: 59,128,084 (GRCm39)		noncoding transcript	Het
Hepacam2	A	T	6: 3,463,378 (GRCm39)		probably benign	Het
Ints9	G	A	14: 65,223,792 (GRCm39)	G89R	possibly damaging	Het
Iqcm	T	A	8: 76,615,241 (GRCm39)	W441R	probably damaging	Het
Itga10	T	C	3: 96,558,808 (GRCm39)	L382P	possibly damaging	Het
Itga10	G	T	3: 96,561,039 (GRCm39)	G635W	probably damaging	Het
Kbtbd2	A	G	6: 56,756,075 (GRCm39)	Y554H	probably damaging	Het
Kif1b	T	C	4: 149,268,766 (GRCm39)	K1649R	probably damaging	Het
L1cam	A	T	X: 72,904,747 (GRCm39)	F536Y	probably damaging	Het
Magee1	A	T	X: 104,166,564 (GRCm39)	D783V	probably damaging	Het
Marveld3	A	T	8: 110,686,434 (GRCm39)	V144E	probably benign	Het
Mcam	T	C	9: 44,047,932 (GRCm39)	V59A	probably damaging	Het
Mdga2	C	T	12: 66,915,515 (GRCm39)	E47K	probably damaging	Het
Metrn	T	A	17: 26,015,601 (GRCm39)	E38V	probably damaging	Het
Mfrp	T	C	9: 44,015,015 (GRCm39)	L314P	probably benign	Het
Mgat4f	T	A	1: 134,318,251 (GRCm39)	M341K	probably damaging	Het
Mideas	G	T	12: 84,219,809 (GRCm39)	P382T	probably damaging	Het
Mospd2	A	G	X: 163,739,473 (GRCm39)		probably null	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myh6	C	T	14: 55,191,228 (GRCm39)	R871H	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or13c7b	A	G	4: 43,821,178 (GRCm39)	F61S	probably damaging	Het
Or5b111	T	C	19: 13,291,485 (GRCm39)	T55A	probably benign	Het
Or8i2	T	A	2: 86,852,009 (GRCm39)	N293I	probably damaging	Het
Parvb	A	G	15: 84,116,369 (GRCm39)	K33E	possibly damaging	Het
Pdcd11	A	G	19: 47,093,191 (GRCm39)	M490V	probably benign	Het
Pkd2	A	C	5: 104,603,456 (GRCm39)		probably benign	Het
Reps1	T	A	10: 17,969,061 (GRCm39)	D206E	probably benign	Het
Rimkla	T	A	4: 119,331,779 (GRCm39)	M140L	possibly damaging	Het
Rnf13	T	G	3: 57,709,907 (GRCm39)	I150S	probably null	Het
Rxfp4	C	T	3: 88,560,200 (GRCm39)	A84T	probably damaging	Het
Serpinb8	T	A	1: 107,533,657 (GRCm39)	D237E	probably benign	Het
Sgo2b	T	G	8: 64,381,057 (GRCm39)	T592P	probably benign	Het
Slc35d1	A	T	4: 103,062,349 (GRCm39)	I228N	probably damaging	Het
Slc39a1	T	G	3: 90,156,757 (GRCm39)	H104Q	probably benign	Het
Slc6a6	T	C	6: 91,712,161 (GRCm39)	V230A	probably benign	Het
Slc9a3	A	G	13: 74,269,722 (GRCm39)	E30G	probably benign	Het
Slc9c1	A	G	16: 45,413,827 (GRCm39)	Y985C	probably benign	Het
Supt6	A	G	11: 78,121,758 (GRCm39)	F298S	probably damaging	Het
Tada2a	T	C	11: 83,970,455 (GRCm39)	D432G	probably damaging	Het
Thoc2l	T	C	5: 104,666,857 (GRCm39)	F460L	probably benign	Het
Tmem131	C	A	1: 36,851,690 (GRCm39)	V938L	probably benign	Het
Tnpo3	A	G	6: 29,589,035 (GRCm39)	V105A	probably benign	Het
Ttc7	T	C	17: 87,654,135 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,727,532 (GRCm39)		probably benign	Het
Usp16	T	C	16: 87,270,075 (GRCm39)		probably null	Het
Usp36	A	G	11: 118,159,491 (GRCm39)	L486S	probably benign	Het
Uty	T	C	Y: 1,239,816 (GRCm39)	I72V	probably benign	Het
Vps51	A	G	19: 6,118,164 (GRCm39)	V777A	probably benign	Het
Zfp160	A	G	17: 21,247,244 (GRCm39)	K598R	probably benign	Het
Zfp39	T	C	11: 58,781,158 (GRCm39)	N535D	probably benign	Het
Zfp804a	A	G	2: 82,089,008 (GRCm39)	T946A	probably benign	Het

Other mutations in Anxa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Anxa2	APN	9	69,390,301 (GRCm39)	nonsense	probably null
IGL02550:Anxa2	APN	9	69,374,588 (GRCm39)	missense	probably benign	0.00
FR4342:Anxa2	UTSW	9	69,387,492 (GRCm39)	small insertion	probably benign
FR4342:Anxa2	UTSW	9	69,387,487 (GRCm39)	small insertion	probably benign
FR4548:Anxa2	UTSW	9	69,387,485 (GRCm39)	small insertion	probably benign
FR4589:Anxa2	UTSW	9	69,387,492 (GRCm39)	small insertion	probably benign
R1480:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R1482:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R1519:Anxa2	UTSW	9	69,392,523 (GRCm39)	missense	probably damaging	1.00
R1609:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R1610:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R1624:Anxa2	UTSW	9	69,386,990 (GRCm39)	missense	probably benign	0.10
R1672:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R1696:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R1760:Anxa2	UTSW	9	69,397,049 (GRCm39)	missense	probably benign	0.00
R1775:Anxa2	UTSW	9	69,395,363 (GRCm39)	missense	possibly damaging	0.93
R1828:Anxa2	UTSW	9	69,390,260 (GRCm39)	missense	probably damaging	1.00
R1884:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R1991:Anxa2	UTSW	9	69,391,098 (GRCm39)	missense	probably damaging	1.00
R2020:Anxa2	UTSW	9	69,391,099 (GRCm39)	missense	probably damaging	0.99
R2029:Anxa2	UTSW	9	69,371,762 (GRCm39)	missense	possibly damaging	0.71
R2103:Anxa2	UTSW	9	69,391,098 (GRCm39)	missense	probably damaging	1.00
R2129:Anxa2	UTSW	9	69,383,410 (GRCm39)	missense	possibly damaging	0.48
R2148:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R2149:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R2150:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R2437:Anxa2	UTSW	9	69,397,046 (GRCm39)	missense	probably damaging	1.00
R3848:Anxa2	UTSW	9	69,374,624 (GRCm39)	missense	probably damaging	1.00
R4036:Anxa2	UTSW	9	69,395,352 (GRCm39)	missense	probably damaging	0.99
R4565:Anxa2	UTSW	9	69,397,019 (GRCm39)	missense	probably damaging	1.00
R4731:Anxa2	UTSW	9	69,393,812 (GRCm39)	missense	probably benign	0.41
R5172:Anxa2	UTSW	9	69,392,533 (GRCm39)	missense	probably damaging	0.99
R5181:Anxa2	UTSW	9	69,383,347 (GRCm39)	missense	probably benign	0.00
R6427:Anxa2	UTSW	9	69,383,431 (GRCm39)	critical splice donor site	probably null
R6759:Anxa2	UTSW	9	69,391,103 (GRCm39)	missense	probably damaging	1.00
R7725:Anxa2	UTSW	9	69,387,410 (GRCm39)	missense	unknown
R7734:Anxa2	UTSW	9	69,398,764 (GRCm39)	missense	probably benign	0.41
R8532:Anxa2	UTSW	9	69,374,594 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATCACGACCCACATGAGTGC -3'
(R):5'- AGGTCACCACTCTGCCATTG -3'

Sequencing Primer
(F):5'- CAGCTTTAGGGGATCTGACACTC -3'
(R):5'- GCCATTGTTCTCTACAGCCAC -3'

Posted On

2014-10-01