Incidental Mutation 'R6219:Ano2'
ID |
503899 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano2
|
Ensembl Gene |
ENSMUSG00000038115 |
Gene Name |
anoctamin 2 |
Synonyms |
Tmem16b |
MMRRC Submission |
044351-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R6219 (G1)
|
Quality Score |
124.008 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
125667382-126017089 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125792553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 349
(D349G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125303
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159984]
[ENSMUST00000160496]
|
AlphaFold |
Q8CFW1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159111
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159984
AA Change: D19G
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000123965 Gene: ENSMUSG00000038115 AA Change: D19G
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
21 |
181 |
1.7e-41 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160317
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160496
AA Change: D349G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125303 Gene: ENSMUSG00000038115 AA Change: D349G
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
69 |
N/A |
INTRINSIC |
Pfam:Anoct_dimer
|
91 |
348 |
5.7e-78 |
PFAM |
Pfam:Anoctamin
|
351 |
941 |
6.7e-138 |
PFAM |
low complexity region
|
964 |
991 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000161619
AA Change: D318G
|
SMART Domains |
Protein: ENSMUSP00000125426 Gene: ENSMUSG00000038115 AA Change: D318G
Domain | Start | End | E-Value | Type |
low complexity region
|
63 |
74 |
N/A |
INTRINSIC |
Pfam:Anoctamin
|
262 |
425 |
1.9e-39 |
PFAM |
|
Meta Mutation Damage Score |
0.2728 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (42/42) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011] PHENOTYPE: Mice homozygous for a knock-out allele lack calcium-activated chloride currents in the main olfactory epithelium and vomeronasal organ but normal olfaction in behavioral tasks. [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 |
6030445D17Rik |
T |
C |
4: 136,190,059 (GRCm39) |
S147P |
unknown |
Het |
Acat2 |
T |
C |
17: 13,179,604 (GRCm39) |
|
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Ccnf |
C |
A |
17: 24,445,678 (GRCm39) |
E523* |
probably null |
Het |
Ccr10 |
C |
T |
11: 101,065,375 (GRCm39) |
A52T |
possibly damaging |
Het |
Cdc14b |
C |
T |
13: 64,353,338 (GRCm39) |
|
probably benign |
Het |
Cirop |
G |
T |
14: 54,933,116 (GRCm39) |
Q356K |
noncoding transcript |
Het |
Cmya5 |
T |
C |
13: 93,230,951 (GRCm39) |
E1379G |
probably damaging |
Het |
Cyfip1 |
A |
G |
7: 55,558,189 (GRCm39) |
D822G |
possibly damaging |
Het |
Cyp4a29 |
A |
C |
4: 115,106,927 (GRCm39) |
T195P |
probably damaging |
Het |
Dmxl1 |
A |
T |
18: 50,035,434 (GRCm39) |
T2283S |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,272,745 (GRCm39) |
D2291G |
probably benign |
Het |
Dock3 |
T |
A |
9: 106,872,080 (GRCm39) |
L493F |
probably damaging |
Het |
Fbxw7 |
G |
A |
3: 84,876,520 (GRCm39) |
G227D |
probably damaging |
Het |
Fmo2 |
A |
T |
1: 162,708,085 (GRCm39) |
V350D |
probably damaging |
Het |
Glis1 |
C |
T |
4: 107,489,102 (GRCm39) |
P487S |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm35315 |
G |
T |
5: 110,226,410 (GRCm39) |
T343K |
probably benign |
Het |
Gpr141 |
A |
G |
13: 19,936,697 (GRCm39) |
I26T |
probably benign |
Het |
Hectd4 |
T |
G |
5: 121,446,941 (GRCm39) |
V311G |
possibly damaging |
Het |
Ino80d |
C |
T |
1: 63,118,206 (GRCm39) |
E322K |
possibly damaging |
Het |
Irs2 |
A |
G |
8: 11,055,121 (GRCm39) |
S1104P |
probably damaging |
Het |
Lama1 |
T |
C |
17: 68,097,851 (GRCm39) |
F1744L |
probably benign |
Het |
Lcn10 |
A |
T |
2: 25,573,587 (GRCm39) |
R55* |
probably null |
Het |
Lrp2 |
A |
T |
2: 69,299,822 (GRCm39) |
C3077S |
probably damaging |
Het |
Mdc1 |
T |
A |
17: 36,161,566 (GRCm39) |
S826R |
probably benign |
Het |
Nr2c1 |
G |
T |
10: 93,999,648 (GRCm39) |
V103L |
probably benign |
Het |
Nup133 |
A |
T |
8: 124,663,612 (GRCm39) |
D310E |
possibly damaging |
Het |
Or7c70 |
A |
G |
10: 78,683,093 (GRCm39) |
S219P |
possibly damaging |
Het |
Pip5k1b |
T |
A |
19: 24,359,187 (GRCm39) |
E112D |
probably damaging |
Het |
Pira12 |
A |
T |
7: 3,897,640 (GRCm39) |
V485E |
probably damaging |
Het |
Reln |
T |
C |
5: 22,153,594 (GRCm39) |
K2237E |
probably damaging |
Het |
Sirt2 |
A |
G |
7: 28,466,940 (GRCm39) |
|
probably benign |
Het |
Slit2 |
A |
T |
5: 48,459,770 (GRCm39) |
H1350L |
possibly damaging |
Het |
Snx15 |
A |
G |
19: 6,171,538 (GRCm39) |
S179P |
probably damaging |
Het |
Sp8 |
T |
G |
12: 118,812,402 (GRCm39) |
S86A |
probably benign |
Het |
Sptbn5 |
T |
C |
2: 119,907,803 (GRCm39) |
|
probably benign |
Het |
Tfap4 |
A |
G |
16: 4,365,175 (GRCm39) |
S196P |
probably damaging |
Het |
Tgm3 |
T |
C |
2: 129,880,530 (GRCm39) |
|
probably null |
Het |
Tnks2 |
T |
C |
19: 36,843,604 (GRCm39) |
|
probably benign |
Het |
Ttll11 |
A |
T |
2: 35,642,511 (GRCm39) |
|
probably null |
Het |
Vwa3b |
C |
A |
1: 37,139,779 (GRCm39) |
Q367K |
possibly damaging |
Het |
Zdhhc20 |
A |
T |
14: 58,078,340 (GRCm39) |
V312E |
probably damaging |
Het |
|
Other mutations in Ano2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00766:Ano2
|
APN |
6 |
125,990,216 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01387:Ano2
|
APN |
6 |
125,990,240 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01772:Ano2
|
APN |
6 |
126,013,821 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01931:Ano2
|
APN |
6 |
125,959,708 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02066:Ano2
|
APN |
6 |
125,667,702 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02410:Ano2
|
APN |
6 |
125,792,496 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02526:Ano2
|
APN |
6 |
125,849,714 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03116:Ano2
|
APN |
6 |
125,957,134 (GRCm39) |
nonsense |
probably null |
|
IGL03183:Ano2
|
APN |
6 |
125,687,592 (GRCm39) |
missense |
probably benign |
|
IGL03391:Ano2
|
APN |
6 |
125,784,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R0257:Ano2
|
UTSW |
6 |
125,857,676 (GRCm39) |
missense |
probably benign |
0.05 |
R0462:Ano2
|
UTSW |
6 |
125,689,238 (GRCm39) |
missense |
probably benign |
0.26 |
R0594:Ano2
|
UTSW |
6 |
125,959,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R1072:Ano2
|
UTSW |
6 |
126,016,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R1099:Ano2
|
UTSW |
6 |
125,784,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R1436:Ano2
|
UTSW |
6 |
125,844,134 (GRCm39) |
critical splice donor site |
probably null |
|
R1468:Ano2
|
UTSW |
6 |
125,773,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Ano2
|
UTSW |
6 |
125,773,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R1822:Ano2
|
UTSW |
6 |
125,840,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R1901:Ano2
|
UTSW |
6 |
125,849,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R1902:Ano2
|
UTSW |
6 |
125,849,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R1911:Ano2
|
UTSW |
6 |
125,990,654 (GRCm39) |
missense |
probably benign |
0.00 |
R2040:Ano2
|
UTSW |
6 |
126,016,471 (GRCm39) |
missense |
probably benign |
0.13 |
R2192:Ano2
|
UTSW |
6 |
125,992,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R2307:Ano2
|
UTSW |
6 |
125,969,849 (GRCm39) |
missense |
probably benign |
0.00 |
R2698:Ano2
|
UTSW |
6 |
125,689,309 (GRCm39) |
missense |
probably benign |
0.01 |
R2878:Ano2
|
UTSW |
6 |
125,840,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R3151:Ano2
|
UTSW |
6 |
125,990,280 (GRCm39) |
splice site |
probably null |
|
R4004:Ano2
|
UTSW |
6 |
125,990,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Ano2
|
UTSW |
6 |
125,840,501 (GRCm39) |
missense |
probably benign |
0.07 |
R4684:Ano2
|
UTSW |
6 |
125,767,304 (GRCm39) |
missense |
probably benign |
0.00 |
R4685:Ano2
|
UTSW |
6 |
125,957,087 (GRCm39) |
nonsense |
probably null |
|
R4686:Ano2
|
UTSW |
6 |
125,767,254 (GRCm39) |
missense |
probably benign |
0.10 |
R4852:Ano2
|
UTSW |
6 |
125,959,886 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4923:Ano2
|
UTSW |
6 |
125,880,018 (GRCm39) |
utr 3 prime |
probably benign |
|
R5488:Ano2
|
UTSW |
6 |
126,016,216 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5513:Ano2
|
UTSW |
6 |
126,016,285 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5699:Ano2
|
UTSW |
6 |
125,849,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R5876:Ano2
|
UTSW |
6 |
126,016,242 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6175:Ano2
|
UTSW |
6 |
125,969,918 (GRCm39) |
missense |
probably benign |
0.15 |
R6613:Ano2
|
UTSW |
6 |
125,783,619 (GRCm39) |
splice site |
probably null |
|
R6711:Ano2
|
UTSW |
6 |
125,752,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R6982:Ano2
|
UTSW |
6 |
125,969,856 (GRCm39) |
missense |
probably benign |
|
R7153:Ano2
|
UTSW |
6 |
125,969,906 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7182:Ano2
|
UTSW |
6 |
125,767,256 (GRCm39) |
missense |
probably damaging |
0.99 |
R7312:Ano2
|
UTSW |
6 |
126,016,460 (GRCm39) |
nonsense |
probably null |
|
R7358:Ano2
|
UTSW |
6 |
125,687,696 (GRCm39) |
missense |
probably benign |
|
R7456:Ano2
|
UTSW |
6 |
125,940,508 (GRCm39) |
missense |
probably benign |
0.01 |
R7532:Ano2
|
UTSW |
6 |
125,940,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R7607:Ano2
|
UTSW |
6 |
125,689,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R7623:Ano2
|
UTSW |
6 |
125,992,536 (GRCm39) |
nonsense |
probably null |
|
R7690:Ano2
|
UTSW |
6 |
125,990,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R8273:Ano2
|
UTSW |
6 |
125,959,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R8389:Ano2
|
UTSW |
6 |
125,957,132 (GRCm39) |
missense |
probably damaging |
0.99 |
R8392:Ano2
|
UTSW |
6 |
125,857,698 (GRCm39) |
missense |
probably benign |
0.02 |
R8479:Ano2
|
UTSW |
6 |
125,689,123 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8488:Ano2
|
UTSW |
6 |
125,957,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R8746:Ano2
|
UTSW |
6 |
125,840,513 (GRCm39) |
missense |
probably benign |
0.14 |
R9136:Ano2
|
UTSW |
6 |
125,959,962 (GRCm39) |
missense |
probably damaging |
0.98 |
R9680:Ano2
|
UTSW |
6 |
125,857,382 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9752:Ano2
|
UTSW |
6 |
125,840,499 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ano2
|
UTSW |
6 |
125,840,416 (GRCm39) |
nonsense |
probably null |
|
Z1176:Ano2
|
UTSW |
6 |
125,687,670 (GRCm39) |
missense |
probably benign |
|
Z1177:Ano2
|
UTSW |
6 |
125,992,610 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ano2
|
UTSW |
6 |
125,990,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGATGTGCACTGGTGATCTC -3'
(R):5'- GCACATCTACTTAAAGAGCTGGC -3'
Sequencing Primer
(F):5'- AGATGGAAGTTCCTGTAGCCCTC -3'
(R):5'- CCTCCAGGGACCAAGACAGTTG -3'
|
Posted On |
2018-02-27 |