Mutagenetix > Incidental Mutations

Incidental Mutation 'R7725:Anxa2'

595451

Institutional Source

Beutler Lab

Gene Symbol

Anxa2

Ensembl Gene

ENSMUSG00000032231

Gene Name

annexin A2

Synonyms

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7725 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69453620-69491795 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69480128 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 6 (K6N)

Ref Sequence

ENSEMBL: ENSMUSP00000117855 (fasta)

Gene Model

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

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000134907

SMART Domains

Protein: ENSMUSP00000117979
Gene: ENSMUSG00000032231

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

Predicted Effect

unknown
Transcript: ENSMUST00000136282
AA Change: K6N

SMART Domains

Protein: ENSMUSP00000117855
Gene: ENSMUSG00000032231
AA Change: K6N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	T	11: 58,608,499	N164K	probably benign	Het
Arhgap20	T	A	9: 51,831,750	M296K	possibly damaging	Het
Bdh1	G	A	16: 31,438,092	V20I	not run	Het
Bop1	A	G	15: 76,455,383	I254T	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Ccdc114	T	A	7: 45,948,411	S582T	probably damaging	Het
Cct4	A	G	11: 22,990,814	K21E	probably benign	Het
Cercam	G	A	2: 29,872,562		probably null	Het
Clip2	A	T	5: 134,517,999	Y238*	probably null	Het
Col19a1	A	T	1: 24,270,444	S1043T	possibly damaging	Het
Ctcf	A	G	8: 105,663,836	Y25C	probably damaging	Het
Dennd4c	C	T	4: 86,786,093	R282C	probably benign	Het
Eef1g	T	A	19: 8,978,063	H425Q	probably benign	Het
Fam131b	C	T	6: 42,318,542	A234T	probably benign	Het
Fam184a	C	A	10: 53,633,706	E126*	probably null	Het
Fam187b	A	G	7: 30,977,714	D216G	possibly damaging	Het
Fam35a	T	G	14: 34,268,704	T82P	possibly damaging	Het
Gabra1	A	T	11: 42,135,443	Y341N	possibly damaging	Het
Gm14124	A	G	2: 150,268,548	Y386C	unknown	Het
Gm3667	T	A	14: 6,874,268	Q52L	probably damaging	Het
Gpr179	C	T	11: 97,351,292	R242H	probably damaging	Het
Gulo	T	C	14: 66,008,073	Y24C	probably damaging	Het
Hectd4	A	T	5: 121,220,617	E49V	unknown	Het
Htra4	A	G	8: 25,037,153	S209P	possibly damaging	Het
Lmntd1	A	G	6: 145,543,470	S22P	probably benign	Het
Med12l	A	G	3: 59,255,992	K1347E	probably damaging	Het
Mrc1	C	A	2: 14,279,977	D592E	probably benign	Het
Muc15	A	G	2: 110,731,798	D193G	probably damaging	Het
Ncor2	A	G	5: 125,023,566	V1316A		Het
Olfr1101	T	C	2: 86,988,979	I66V	probably benign	Het
Olfr1380	A	T	11: 49,564,532	I204L	probably benign	Het
Olfr224	A	G	11: 58,566,767	Y193H	probably damaging	Het
Serpina6	A	T	12: 103,648,677	Y303*	probably null	Het
Shroom3	T	C	5: 92,941,653	L754P	probably benign	Het
Skint5	C	A	4: 113,827,902	L539F	unknown	Het
St3gal4	C	A	9: 35,053,079	R209L	possibly damaging	Het
Tex14	A	C	11: 87,495,042	T243P	probably damaging	Het
Ttc12	T	A	9: 49,440,302	M632L	probably benign	Het
Ttn	T	C	2: 76,907,772	E4187G	unknown	Het
Txk	G	A	5: 72,707,557	A379V	probably damaging	Het
Wdr43	A	G	17: 71,616,343	Y28C	probably benign	Het
Zfp40	A	G	17: 23,178,277	V82A	probably benign	Het
Zfp994	A	T	17: 22,200,110	N619K	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
R2029:Anxa2	UTSW	9	69464480	missense	possibly damaging	0.71
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
R7734:Anxa2	UTSW	9	69491482	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- CCCCAATGCTATAAGTTGTCAGG -3'
(R):5'- AAACTTCCCATTGGATTCAGGTG -3'

Sequencing Primer
(F):5'- GCTATAAGTTGTCAGGATTTGAACC -3'
(R):5'- CCATTGGATTCAGGTGCCAGTC -3'

Posted On

2019-11-12