Mutagenetix > Incidental Mutation

Incidental Mutation 'R1884:Anxa2'

209357

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

039905-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1884 (G1)

Quality Score

217

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: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

99% (94/95)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	T	C	9: 103,991,684 (GRCm39)	M573T	probably benign	Het
Ank3	A	G	10: 69,851,422 (GRCm39)	T1162A	possibly damaging	Het
Arpp21	T	A	9: 111,972,595 (GRCm39)	D232V	probably damaging	Het
Atg2a	T	C	19: 6,304,414 (GRCm39)	Y1144H	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Brs3	T	C	X: 56,092,449 (GRCm39)	I311T	probably benign	Het
Cenpf	C	T	1: 189,379,046 (GRCm39)	V2915I	probably benign	Het
Cep170	G	T	1: 176,602,245 (GRCm39)	T287K	probably benign	Het
Chst2	G	A	9: 95,287,611 (GRCm39)	T245I	probably damaging	Het
Cnot4	C	T	6: 35,055,092 (GRCm39)	V66I	probably damaging	Het
Cntn4	A	G	6: 106,656,353 (GRCm39)	T885A	probably benign	Het
Col20a1	C	T	2: 180,634,703 (GRCm39)	T131I	possibly damaging	Het
Coro7	G	T	16: 4,446,683 (GRCm39)		probably benign	Het
Cpne8	C	A	15: 90,532,831 (GRCm39)		probably benign	Het
Dbnl	G	A	11: 5,749,247 (GRCm39)	G356E	probably benign	Het
Ddx31	T	A	2: 28,749,002 (GRCm39)	I266N	probably damaging	Het
Dnah7a	A	T	1: 53,580,159 (GRCm39)	I1592N	probably damaging	Het
Dok6	A	T	18: 89,492,130 (GRCm39)	L149Q	probably damaging	Het
Eri2	G	A	7: 119,390,346 (GRCm39)	T94I	probably benign	Het
Ermp1	A	G	19: 29,594,079 (GRCm39)	V697A	probably benign	Het
Foxc1	C	T	13: 31,991,648 (GRCm39)	T153M	probably damaging	Het
Fry	A	G	5: 150,326,985 (GRCm39)	I1224V	probably benign	Het
Fzd5	G	A	1: 64,774,813 (GRCm39)	T316M	probably damaging	Het
Gcm1	G	T	9: 77,966,861 (GRCm39)	V27L	probably benign	Het
Gm5773	A	T	3: 93,681,348 (GRCm39)	D340V	probably benign	Het
Gucy2d	T	A	7: 98,100,815 (GRCm39)	H379Q	probably benign	Het
Hectd1	T	A	12: 51,847,738 (GRCm39)	M392L	probably benign	Het
Itpr2	A	C	6: 146,287,469 (GRCm39)	D452E	probably benign	Het
Krtap2-4	G	C	11: 99,505,505 (GRCm39)		probably benign	Het
Lrit1	T	C	14: 36,783,710 (GRCm39)	V346A	possibly damaging	Het
Lrrk1	A	G	7: 65,912,185 (GRCm39)	S1792P	probably benign	Het
Marveld2	A	T	13: 100,737,129 (GRCm39)	V168E	probably benign	Het
Ms4a4b	T	A	19: 11,438,629 (GRCm39)	D149E	probably damaging	Het
Myom2	G	A	8: 15,164,278 (GRCm39)	D1058N	probably benign	Het
Ncam2	C	T	16: 81,234,571 (GRCm39)	P142L	probably damaging	Het
Nek9	A	G	12: 85,379,330 (GRCm39)	L192P	probably damaging	Het
Nol10	T	C	12: 17,418,390 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,591,538 (GRCm39)	V194A	probably damaging	Het
Nudt6	A	G	3: 37,466,549 (GRCm39)	V82A	probably benign	Het
Odf2l	A	T	3: 144,856,809 (GRCm39)	N492I	probably damaging	Het
Or2a12	T	C	6: 42,904,764 (GRCm39)	S200P	probably damaging	Het
Or51f1d	T	C	7: 102,701,189 (GRCm39)	I228T	probably benign	Het
Pkn3	T	C	2: 29,972,840 (GRCm39)	V276A	probably damaging	Het
Prl3b1	T	G	13: 27,431,886 (GRCm39)	L137R	possibly damaging	Het
Rab11fip2	A	G	19: 59,925,762 (GRCm39)	F10L	probably damaging	Het
Rab3b	T	A	4: 108,786,649 (GRCm39)	V133E	probably damaging	Het
Rnf111	A	T	9: 70,383,520 (GRCm39)	S138T	probably damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Runx1t1	A	G	4: 13,835,767 (GRCm39)	T75A	probably benign	Het
Ryr2	T	G	13: 11,753,242 (GRCm39)	K1693T	probably damaging	Het
Sdha	A	T	13: 74,481,255 (GRCm39)	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,732,037 (GRCm39)	D274V	possibly damaging	Het
Setd2	T	G	9: 110,385,486 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,141,646 (GRCm39)	Y1109C	probably damaging	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Slc22a2	A	G	17: 12,833,713 (GRCm39)		probably benign	Het
Slc35f4	A	T	14: 49,551,091 (GRCm39)	W108R	probably damaging	Het
Slc4a1ap	A	G	5: 31,691,524 (GRCm39)	E440G	probably damaging	Het
Slc6a4	A	G	11: 76,904,201 (GRCm39)	T219A	probably benign	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Svil	T	G	18: 5,094,640 (GRCm39)	V1440G	possibly damaging	Het
Tas2r126	A	T	6: 42,411,961 (GRCm39)	T165S	probably benign	Het
Tbck	T	C	3: 132,430,677 (GRCm39)		probably null	Het
Tnxb	T	A	17: 34,908,539 (GRCm39)	D1520E	probably benign	Het
Top1mt	C	T	15: 75,539,750 (GRCm39)	R287H	possibly damaging	Het
Trdn	A	G	10: 33,133,091 (GRCm39)	K314E	probably benign	Het
Troap	T	A	15: 98,975,779 (GRCm39)	C233S	probably benign	Het
Usp28	T	C	9: 48,947,247 (GRCm39)	M571T	probably damaging	Het
Vac14	A	G	8: 111,438,319 (GRCm39)	H644R	probably damaging	Het
Vipr1	C	T	9: 121,494,930 (GRCm39)	P327L	possibly damaging	Het
Vmn1r31	C	T	6: 58,449,029 (GRCm39)	V279I	probably damaging	Het
Vmn1r69	G	A	7: 10,314,678 (GRCm39)	R18W	probably benign	Het
Vmn2r18	G	T	5: 151,499,190 (GRCm39)	Q425K	probably benign	Het
Vmn2r60	T	C	7: 41,786,094 (GRCm39)	V299A	probably damaging	Het
Vps13b	A	T	15: 35,430,437 (GRCm39)		probably benign	Het
Zfp157	A	G	5: 138,443,102 (GRCm39)	D31G	probably damaging	Het
Zfp385c	A	C	11: 100,521,532 (GRCm39)	V176G	probably benign	Het
Zfp831	A	G	2: 174,545,870 (GRCm39)	H1325R	possibly damaging	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
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
R2146:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
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'- AGATCACGACCCACATGAGTG -3'
(R):5'- AGGTCACCACTCTGCCATTG -3'

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

Posted On

2014-06-30