Mutagenetix > Incidental Mutation

Incidental Mutation 'R1519:Anxa2'

167290

Institutional Source

Beutler Lab

Gene Symbol

Anxa2

Ensembl Gene

ENSMUSG00000032231

Gene Name

annexin A2

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1519 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69360978-69399074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69392523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 124 (I124T)

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: I191T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034756
Gene: ENSMUSG00000032231
AA Change: I191T

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: I191T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122175
Gene: ENSMUSG00000032231
AA Change: I191T

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

probably damaging
Transcript: ENSMUST00000136282
AA Change: I124T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117855
Gene: ENSMUSG00000032231
AA Change: I124T

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.9%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,439,390 (GRCm39)	P187R	probably damaging	Het
Abhd5	T	C	9: 122,208,079 (GRCm39)		probably null	Het
Acadvl	A	G	11: 69,905,617 (GRCm39)		probably null	Het
Actn1	T	C	12: 80,251,852 (GRCm39)	E75G	probably damaging	Het
Adam4	A	T	12: 81,467,651 (GRCm39)	N323K	possibly damaging	Het
Anks6	G	A	4: 47,027,152 (GRCm39)	R689W	probably damaging	Het
Aph1c	T	C	9: 66,740,547 (GRCm39)	T10A	probably benign	Het
Arhgap40	T	A	2: 158,388,721 (GRCm39)	W552R	probably benign	Het
Baz2b	C	T	2: 59,778,598 (GRCm39)	R754H	possibly damaging	Het
Blmh	A	G	11: 76,857,607 (GRCm39)	Y147C	probably damaging	Het
C1galt1	C	T	6: 7,866,402 (GRCm39)	L83F	probably damaging	Het
Ccdc168	A	G	1: 44,096,130 (GRCm39)	V1656A	probably benign	Het
Cdh23	A	T	10: 60,215,122 (GRCm39)	Y1403N	possibly damaging	Het
Cic	A	T	7: 24,993,235 (GRCm39)		probably null	Het
Coro1b	T	A	19: 4,200,583 (GRCm39)	V200D	possibly damaging	Het
Csl	T	A	10: 99,593,817 (GRCm39)	E416V	probably damaging	Het
Cyp3a25	A	G	5: 145,938,257 (GRCm39)		probably null	Het
Dennd2d	T	A	3: 106,399,875 (GRCm39)	F266Y	probably damaging	Het
Dnah10	A	G	5: 124,838,016 (GRCm39)	E1072G	probably damaging	Het
Dnah6	T	A	6: 73,026,031 (GRCm39)	K3435N	probably damaging	Het
Dnah9	G	A	11: 65,772,587 (GRCm39)	A3715V	probably damaging	Het
Fam186a	G	A	15: 99,845,536 (GRCm39)	S236L	unknown	Het
Frs3	A	G	17: 48,013,903 (GRCm39)	T199A	probably benign	Het
Fsd1	A	G	17: 56,300,870 (GRCm39)	N243S	probably benign	Het
Gabra5	A	C	7: 57,058,641 (GRCm39)	L369R	probably benign	Het
Gask1b	A	G	3: 79,848,771 (GRCm39)	N506D	possibly damaging	Het
Gins4	A	G	8: 23,724,792 (GRCm39)	V54A	probably benign	Het
Gli1	T	C	10: 127,170,138 (GRCm39)	E339G	possibly damaging	Het
Gm12185	A	G	11: 48,798,594 (GRCm39)	V633A	probably damaging	Het
Gpr83	T	A	9: 14,779,493 (GRCm39)	C182S	probably null	Het
Gspt1	A	G	16: 11,038,719 (GRCm39)	V627A	probably damaging	Het
Heatr1	T	C	13: 12,427,040 (GRCm39)	C722R	probably benign	Het
Jak1	C	T	4: 101,020,119 (GRCm39)	R680Q	probably damaging	Het
Kif2c	A	G	4: 117,027,137 (GRCm39)	V287A	probably damaging	Het
Kmo	C	T	1: 175,479,184 (GRCm39)	P240L	possibly damaging	Het
Kmo	A	G	1: 175,484,368 (GRCm39)	E366G	probably damaging	Het
Lepr	A	T	4: 101,646,541 (GRCm39)	N824I	probably damaging	Het
Lyrm7	T	A	11: 54,739,425 (GRCm39)	H75L	possibly damaging	Het
Map4k1	A	T	7: 28,690,461 (GRCm39)	Q351L	probably benign	Het
Matcap2	T	G	9: 22,341,671 (GRCm39)	L114R	probably benign	Het
Mgam	T	C	6: 40,638,617 (GRCm39)	I450T	probably benign	Het
Nbeal2	A	G	9: 110,465,373 (GRCm39)	L955P	probably damaging	Het
Nlrp9c	T	C	7: 26,077,526 (GRCm39)	K752R	possibly damaging	Het
Nsmaf	A	T	4: 6,438,062 (GRCm39)	I70K	probably benign	Het
Or14a257	A	G	7: 86,138,333 (GRCm39)	M142T	probably damaging	Het
Or5ac19	C	T	16: 59,089,307 (GRCm39)	C241Y	probably damaging	Het
Otud7a	A	G	7: 63,408,391 (GRCm39)	Y898C	probably damaging	Het
Pcdhb18	A	C	18: 37,623,945 (GRCm39)	D425A	probably damaging	Het
Prdm1	A	T	10: 44,315,982 (GRCm39)	L733*	probably null	Het
Prdm2	A	T	4: 142,862,153 (GRCm39)	I379N	probably damaging	Het
Ptprg	A	T	14: 12,220,596 (GRCm38)	Y436F	probably damaging	Het
Riok3	A	G	18: 12,270,363 (GRCm39)	D167G	probably damaging	Het
Rnf215	G	T	11: 4,085,451 (GRCm39)	R60L	probably damaging	Het
Scart1	G	A	7: 139,808,069 (GRCm39)	V747I	probably benign	Het
Sdk1	A	T	5: 141,985,705 (GRCm39)	H779L	probably benign	Het
Serpine2	A	G	1: 79,772,748 (GRCm39)	F390L	probably damaging	Het
Sh3d21	T	A	4: 126,045,519 (GRCm39)	K387*	probably null	Het
Slc13a2	T	C	11: 78,288,572 (GRCm39)	Y568C	possibly damaging	Het
Slc27a5	T	C	7: 12,722,386 (GRCm39)		probably null	Het
Slc32a1	T	C	2: 158,456,497 (GRCm39)	L384P	probably damaging	Het
Sorcs1	T	C	19: 50,241,025 (GRCm39)	N454D	probably benign	Het
Spag8	T	C	4: 43,652,777 (GRCm39)	Y228C	possibly damaging	Het
Spata31e4	G	A	13: 50,854,443 (GRCm39)		probably null	Het
Spc25	T	C	2: 69,030,431 (GRCm39)	I71V	probably damaging	Het
Tcte1	T	A	17: 45,846,178 (GRCm39)	F261I	probably damaging	Het
Thsd7a	T	A	6: 12,471,174 (GRCm39)	K481N	probably benign	Het
Tll2	G	T	19: 41,074,839 (GRCm39)	N908K	probably benign	Het
Tmem236	T	C	2: 14,197,091 (GRCm39)	V93A	probably benign	Het
Top2b	G	A	14: 16,408,953 (GRCm38)		probably null	Het
Topaz1	G	A	9: 122,596,076 (GRCm39)	S949N	probably benign	Het
Triobp	A	G	15: 78,857,938 (GRCm39)	T1180A	probably benign	Het
Trip11	A	C	12: 101,852,419 (GRCm39)	D548E	probably benign	Het
Trpv2	T	A	11: 62,480,652 (GRCm39)		probably null	Het
Ulbp3	A	G	10: 3,075,230 (GRCm39)		noncoding transcript	Het
Vmn1r12	T	A	6: 57,136,540 (GRCm39)	H212Q	probably damaging	Het
Vmn2r112	A	G	17: 22,837,884 (GRCm39)	T782A	possibly damaging	Het
Vmn2r7	A	G	3: 64,623,876 (GRCm39)	V239A	possibly damaging	Het
Vmn2r80	T	A	10: 79,030,053 (GRCm39)	N626K	probably damaging	Het
Vmn2r99	A	G	17: 19,600,322 (GRCm39)	S449G	probably benign	Het
Wfikkn2	T	C	11: 94,128,933 (GRCm39)	T403A	probably benign	Het
Xirp2	A	G	2: 67,346,023 (GRCm39)	I2755V	probably benign	Het
Yjefn3	A	G	8: 70,341,729 (GRCm39)	V153A	probably benign	Het
Zfp677	C	A	17: 21,617,499 (GRCm39)	H185Q	possibly damaging	Het
Zfp947	C	T	17: 22,365,273 (GRCm39)	V134I	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
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
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'- GTGGAGAGGAAACTGATGGTCCTTG -3'
(R):5'- GACCCTGGCATTACAACTACGGTTC -3'

Sequencing Primer
(F):5'- AAACTGATGGTCCTTGTTTTTTTG -3'
(R):5'- tcatcagggacattcaagcag -3'

Posted On

2014-04-13