Incidental Mutation 'R5172:Anxa2'
| ID |
398829 |
| 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 |
042752-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5172 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
69360978-69399074 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69392533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 127
(D127E)
|
| 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: D194E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034756
Gene: ENSMUSG00000032231
AA Change: D194E
| 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: D194E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122175
Gene: ENSMUSG00000032231
AA Change: D194E
| 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: D127E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117855
Gene: ENSMUSG00000032231
AA Change: D127E
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,266,434 (GRCm39) |
Y52C |
probably damaging |
Het |
| Acmsd |
C |
T |
1: 127,681,585 (GRCm39) |
R183* |
probably null |
Het |
| Atrnl1 |
T |
A |
19: 57,673,945 (GRCm39) |
Y593* |
probably null |
Het |
| Atxn2 |
C |
T |
5: 121,933,098 (GRCm39) |
|
probably null |
Het |
| Ccl6 |
A |
T |
11: 83,480,169 (GRCm39) |
Y66N |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,642,113 (GRCm39) |
V223A |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,269,556 (GRCm39) |
Y1187H |
probably benign |
Het |
| Cfc1 |
A |
T |
1: 34,575,011 (GRCm39) |
I10F |
probably benign |
Het |
| Chrne |
T |
A |
11: 70,506,352 (GRCm39) |
T365S |
probably benign |
Het |
| Clec4b1 |
G |
T |
6: 123,048,414 (GRCm39) |
R183L |
probably benign |
Het |
| Csmd2 |
A |
C |
4: 128,371,190 (GRCm39) |
Q1926P |
probably benign |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,124,563 (GRCm39) |
Q570L |
probably damaging |
Het |
| Fam149a |
T |
A |
8: 45,797,690 (GRCm39) |
Q507L |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,339,195 (GRCm39) |
V496A |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,259,016 (GRCm39) |
D589E |
possibly damaging |
Het |
| Hemk1 |
T |
C |
9: 107,206,631 (GRCm39) |
E4G |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcnh7 |
T |
C |
2: 62,569,508 (GRCm39) |
D796G |
possibly damaging |
Het |
| Lemd2 |
G |
T |
17: 27,414,356 (GRCm39) |
S326* |
probably null |
Het |
| Mdc1 |
T |
C |
17: 36,163,982 (GRCm39) |
S1177P |
probably benign |
Het |
| Mfsd4b4 |
A |
G |
10: 39,770,083 (GRCm39) |
F78S |
probably damaging |
Het |
| Mmgt2 |
T |
A |
11: 62,555,954 (GRCm39) |
F101I |
possibly damaging |
Het |
| Myo18a |
T |
C |
11: 77,714,924 (GRCm39) |
L785P |
probably damaging |
Het |
| Nup155 |
C |
A |
15: 8,139,026 (GRCm39) |
Q33K |
probably benign |
Het |
| Or52r1c |
T |
C |
7: 102,734,884 (GRCm39) |
L48P |
probably damaging |
Het |
| Or5w19 |
A |
G |
2: 87,699,171 (GRCm39) |
T279A |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pank1 |
A |
T |
19: 34,818,202 (GRCm39) |
C112* |
probably null |
Het |
| Pcmtd1 |
T |
A |
1: 7,233,485 (GRCm39) |
M23K |
probably benign |
Het |
| Rere |
A |
T |
4: 150,654,726 (GRCm39) |
R419S |
unknown |
Het |
| Rpf1 |
T |
C |
3: 146,218,050 (GRCm39) |
R155G |
possibly damaging |
Het |
| Sema7a |
A |
G |
9: 57,864,961 (GRCm39) |
T421A |
probably benign |
Het |
| Sharpin |
A |
G |
15: 76,231,741 (GRCm39) |
S323P |
probably benign |
Het |
| Slamf6 |
A |
G |
1: 171,764,147 (GRCm39) |
E180G |
probably benign |
Het |
| Snd1 |
T |
G |
6: 28,886,615 (GRCm39) |
V874G |
possibly damaging |
Het |
| Sult6b2 |
A |
T |
6: 142,743,657 (GRCm39) |
V123D |
probably damaging |
Het |
| Tpk1 |
A |
T |
6: 43,536,951 (GRCm39) |
|
probably null |
Het |
| Vmn1r160 |
A |
T |
7: 22,570,761 (GRCm39) |
N38I |
probably damaging |
Het |
| Wdr93 |
T |
A |
7: 79,402,241 (GRCm39) |
I180N |
probably damaging |
Het |
| Ythdf3 |
C |
T |
3: 16,258,198 (GRCm39) |
T119I |
probably damaging |
Het |
| Zc3h18 |
T |
G |
8: 123,134,159 (GRCm39) |
|
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 |
|
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 |
|
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'- GGGAATGAGGTTATGGCTCACC -3'
(R):5'- TGGGCTGAGGCTTTAAAAGG -3'
Sequencing Primer
(F):5'- TTATGGCTCACCCGGGG -3'
(R):5'- CTACGTGGAGGAGTGCTAACATCTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation