Mutagenetix > Incidental Mutation

Incidental Mutation 'R2103:Anxa2'

230701

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

040107-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2103 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69360978-69399074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69391098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 95 (D95V)

Ref Sequence

ENSEMBL: ENSMUSP00000117855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034756] [ENSMUST00000123470] [ENSMUST00000134907] [ENSMUST00000136282]

AlphaFold

P07356

Predicted Effect

probably damaging
Transcript: ENSMUST00000034756
AA Change: D162V

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

SMART Domains

Protein: ENSMUSP00000034756
Gene: ENSMUSG00000032231
AA Change: D162V

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 damaging
Transcript: ENSMUST00000123470
AA Change: D162V

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

SMART Domains

Protein: ENSMUSP00000122175
Gene: ENSMUSG00000032231
AA Change: D162V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131093

Predicted Effect

probably damaging
Transcript: ENSMUST00000134907
AA Change: D162V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117979
Gene: ENSMUSG00000032231
AA Change: D162V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000136282
AA Change: D95V

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

SMART Domains

Protein: ENSMUSP00000117855
Gene: ENSMUSG00000032231
AA Change: D95V

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

0.8648

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	A	3: 59,947,235 (GRCm39)	P311Q	probably damaging	Het
Acoxl	T	A	2: 127,814,526 (GRCm39)	M314K	probably damaging	Het
Agmat	A	T	4: 141,483,214 (GRCm39)	D216V	probably damaging	Het
Aida	A	T	1: 183,094,627 (GRCm39)	E107D	probably benign	Het
Ano5	A	G	7: 51,187,561 (GRCm39)	K50R	possibly damaging	Het
Aspm	G	A	1: 139,419,403 (GRCm39)	V3023M	probably damaging	Het
Atg16l2	A	G	7: 100,939,568 (GRCm39)		probably null	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
B3galt5	A	T	16: 96,117,225 (GRCm39)	K286M	probably damaging	Het
Best3	A	C	10: 116,838,499 (GRCm39)	I186L	probably benign	Het
Blm	G	T	7: 80,155,697 (GRCm39)		probably null	Het
Cat	A	T	2: 103,293,660 (GRCm39)	D389E	probably damaging	Het
Cert1	T	A	13: 96,771,394 (GRCm39)	N550K	probably damaging	Het
Cluh	C	A	11: 74,550,355 (GRCm39)	C222*	probably null	Het
Cntnap2	G	A	6: 47,275,522 (GRCm39)	E1325K	probably damaging	Het
Col14a1	A	T	15: 55,313,336 (GRCm39)	D1320V	unknown	Het
Cpne7	A	G	8: 123,854,176 (GRCm39)	K288E	possibly damaging	Het
Cyp26b1	A	G	6: 84,552,032 (GRCm39)	S369P	possibly damaging	Het
Cyp2j9	T	A	4: 96,460,201 (GRCm39)	K434M	probably damaging	Het
Dpyd	G	C	3: 118,858,601 (GRCm39)	S605T	probably benign	Het
Dst	A	G	1: 34,229,339 (GRCm39)	T1986A	probably benign	Het
Ebf2	T	A	14: 67,625,391 (GRCm39)	V233D	probably damaging	Het
Ecm2	A	G	13: 49,683,732 (GRCm39)	D570G	probably benign	Het
Efhc1	T	A	1: 21,059,784 (GRCm39)	C611*	probably null	Het
Epop	T	C	11: 97,519,480 (GRCm39)	T210A	probably benign	Het
Fdxacb1	A	T	9: 50,682,946 (GRCm39)	N101I	probably benign	Het
Fezf1	A	G	6: 23,247,331 (GRCm39)	F248S	possibly damaging	Het
Galnt16	A	G	12: 80,630,430 (GRCm39)	D262G	probably damaging	Het
Gm9507	T	A	10: 77,647,500 (GRCm39)		probably benign	Het
Grin2b	A	T	6: 135,757,138 (GRCm39)	I441N	probably benign	Het
H2-Eb2	A	G	17: 34,553,278 (GRCm39)	I155V	probably benign	Het
Hectd4	C	A	5: 121,493,692 (GRCm39)	D3811E	probably benign	Het
Herc4	T	C	10: 63,081,889 (GRCm39)	S71P	probably benign	Het
Hhipl1	A	G	12: 108,293,977 (GRCm39)	T628A	probably benign	Het
Hoga1	A	C	19: 42,048,459 (GRCm39)		probably null	Het
Igf2bp1	A	G	11: 95,866,122 (GRCm39)	V122A	probably damaging	Het
Il10ra	C	A	9: 45,167,109 (GRCm39)	A481S	probably benign	Het
Klk1b26	A	T	7: 43,666,324 (GRCm39)	T256S	probably damaging	Het
Kndc1	C	T	7: 139,501,150 (GRCm39)	T813I	probably benign	Het
Limch1	A	G	5: 67,156,072 (GRCm39)	K394R	probably benign	Het
Lrrc37a	T	C	11: 103,391,087 (GRCm39)	E1446G	probably benign	Het
Lrrc47	C	T	4: 154,100,350 (GRCm39)	R287W	probably damaging	Het
Mdn1	T	A	4: 32,738,712 (GRCm39)	L3555Q	possibly damaging	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Mei1	G	T	15: 81,991,237 (GRCm39)	V472F	probably damaging	Het
Mrps34	T	A	17: 25,114,464 (GRCm39)		probably null	Het
Myom3	A	G	4: 135,503,723 (GRCm39)	T391A	probably benign	Het
Nfib	G	A	4: 82,248,645 (GRCm39)	T314I	possibly damaging	Het
Or5b99	T	C	19: 12,976,866 (GRCm39)	V172A	possibly damaging	Het
Or5p73	A	G	7: 108,064,810 (GRCm39)	N93S	probably benign	Het
Or6c5	T	C	10: 129,074,368 (GRCm39)	S117P	probably damaging	Het
Or9a2	A	G	6: 41,748,939 (GRCm39)	I98T	probably benign	Het
Pdia3	G	C	2: 121,264,474 (GRCm39)	G346A	probably damaging	Het
Plce1	T	C	19: 38,766,368 (GRCm39)	F2117S	probably damaging	Het
Plec	A	G	15: 76,057,743 (GRCm39)	F4055L	probably damaging	Het
Ppip5k1	A	T	2: 121,152,134 (GRCm39)		probably null	Het
Psma6	T	C	12: 55,454,842 (GRCm39)	I57T	probably benign	Het
Psme2	A	T	14: 55,828,297 (GRCm39)		probably null	Het
Reln	A	T	5: 22,174,358 (GRCm39)	D1948E	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sbno1	G	T	5: 124,532,000 (GRCm39)	S727R	probably damaging	Het
Serpina3m	C	A	12: 104,355,958 (GRCm39)	Y208*	probably null	Het
Serpind1	T	C	16: 17,160,808 (GRCm39)	V446A	probably benign	Het
Shc3	T	A	13: 51,596,872 (GRCm39)	M384L	probably benign	Het
Slc38a11	A	G	2: 65,160,683 (GRCm39)	F304L	probably benign	Het
Slc4a5	A	C	6: 83,201,663 (GRCm39)	D4A	probably benign	Het
Slc4a5	G	A	6: 83,274,360 (GRCm39)	A1076T	probably benign	Het
Slpi	C	T	2: 164,197,463 (GRCm39)	C28Y	probably damaging	Het
Sptan1	T	C	2: 29,920,483 (GRCm39)	S2320P	probably damaging	Het
Stim2	A	G	5: 54,262,591 (GRCm39)	T278A	possibly damaging	Het
Sympk	T	A	7: 18,788,041 (GRCm39)	S1186T	probably benign	Het
Tbrg1	T	C	9: 37,560,715 (GRCm39)	D387G	probably benign	Het
Tns2	A	T	15: 102,021,100 (GRCm39)		probably null	Het
Tnxb	A	G	17: 34,901,225 (GRCm39)	Y1013C	probably damaging	Het
Tpsg1	T	C	17: 25,592,267 (GRCm39)	S41P	possibly damaging	Het
Trim36	T	C	18: 46,329,149 (GRCm39)	N85S	probably benign	Het
Trpm6	A	T	19: 18,773,648 (GRCm39)	H380L	probably benign	Het
Tssk4	A	G	14: 55,888,997 (GRCm39)	I174M	probably damaging	Het
Ttn	C	T	2: 76,776,735 (GRCm39)		probably null	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r4	T	A	3: 64,322,704 (GRCm39)	N5I	possibly damaging	Het
Vps11	G	A	9: 44,270,524 (GRCm39)	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,116,892 (GRCm39)	T476A	possibly damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Vwf	G	A	6: 125,623,293 (GRCm39)	V1797I	probably benign	Het
Wasl	A	T	6: 24,618,377 (GRCm39)	S447T	unknown	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Zfp874a	T	A	13: 67,590,623 (GRCm39)	I354F	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
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'- ATCTCCTGTGAGTAGACCCC -3'
(R):5'- ATGACAGTTCTGCAGAGACGG -3'

Sequencing Primer
(F):5'- TAGAAACTCCATCCTCAGTTGGG -3'
(R):5'- CGGGAGTGCAGCGGAATTTC -3'

Posted On

2014-09-18