Incidental Mutation 'IGL02066:Ano2'
| ID |
185655 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ano2
|
| Ensembl Gene |
ENSMUSG00000038115 |
| Gene Name |
anoctamin 2 |
| Synonyms |
Tmem16b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL02066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
125667382-126017089 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125667702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 6
(L6Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112254]
[ENSMUST00000160496]
|
| AlphaFold |
Q8CFW1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112254
|
| SMART Domains |
Protein: ENSMUSP00000107873
Gene: ENSMUSG00000001930
| Domain | Start | End | E-Value | Type |
|---|
|
VWD
|
23 |
181 |
3.43e-35 |
SMART |
|
C8
|
221 |
295 |
1.11e-21 |
SMART |
|
Pfam:TIL
|
298 |
351 |
6.9e-15 |
PFAM |
|
VWC
|
353 |
413 |
8.71e-1 |
SMART |
|
VWD
|
380 |
543 |
2.93e-52 |
SMART |
|
C8
|
580 |
652 |
3.82e-25 |
SMART |
|
Pfam:TIL
|
655 |
710 |
4.1e-14 |
PFAM |
|
EGF_like
|
790 |
825 |
4.37e1 |
SMART |
|
VWC
|
832 |
901 |
3.29e-3 |
SMART |
|
VWD
|
859 |
1015 |
5.15e-39 |
SMART |
|
C8
|
1056 |
1130 |
1.01e-33 |
SMART |
|
Pfam:TIL
|
1144 |
1199 |
1.3e-9 |
PFAM |
|
VWA
|
1278 |
1461 |
1.81e-20 |
SMART |
|
low complexity region
|
1464 |
1477 |
N/A |
INTRINSIC |
|
VWA
|
1499 |
1672 |
8.43e-39 |
SMART |
|
VWA
|
1692 |
1875 |
2.83e-31 |
SMART |
|
VWC
|
1882 |
1949 |
2.99e0 |
SMART |
|
VWD
|
1941 |
2104 |
5.03e-42 |
SMART |
|
C8
|
2135 |
2203 |
1.29e-13 |
SMART |
|
Pfam:TIL
|
2206 |
2257 |
8.3e-8 |
PFAM |
|
VWC
|
2260 |
2328 |
3.16e-16 |
SMART |
|
low complexity region
|
2417 |
2428 |
N/A |
INTRINSIC |
|
VWC
|
2434 |
2497 |
2.61e-17 |
SMART |
|
VWC
|
2513 |
2577 |
3.37e0 |
SMART |
|
VWC
|
2585 |
2647 |
2.55e-11 |
SMART |
|
CT
|
2730 |
2815 |
1.37e-31 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146264
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159111
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160496
AA Change: L6Q
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: L6Q
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,626,854 (GRCm39) |
C569S |
probably damaging |
Het |
| Adck5 |
T |
C |
15: 76,479,406 (GRCm39) |
V487A |
probably damaging |
Het |
| Agfg1 |
A |
G |
1: 82,871,279 (GRCm39) |
T483A |
probably damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,326,236 (GRCm39) |
T82A |
probably damaging |
Het |
| Anp32a |
G |
A |
9: 62,284,615 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
G |
A |
11: 78,164,058 (GRCm39) |
R1133H |
probably damaging |
Het |
| Cep250 |
C |
A |
2: 155,818,441 (GRCm39) |
A871D |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,675,185 (GRCm39) |
V624A |
probably benign |
Het |
| Clasp1 |
G |
A |
1: 118,492,990 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
T |
G |
3: 144,519,216 (GRCm39) |
D320A |
probably benign |
Het |
| Cnot9 |
A |
G |
1: 74,566,212 (GRCm39) |
Q201R |
possibly damaging |
Het |
| Cox4i2 |
C |
T |
2: 152,602,602 (GRCm39) |
R99C |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,976,594 (GRCm39) |
F2875I |
probably damaging |
Het |
| Dpagt1 |
A |
G |
9: 44,243,203 (GRCm39) |
Y246C |
probably damaging |
Het |
| Dsc1 |
A |
G |
18: 20,241,860 (GRCm39) |
|
probably benign |
Het |
| Eef1d |
G |
A |
15: 75,768,704 (GRCm39) |
T464I |
probably benign |
Het |
| Efna2 |
C |
T |
10: 80,024,500 (GRCm39) |
|
probably benign |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Etaa1 |
C |
A |
11: 17,896,687 (GRCm39) |
V477L |
probably benign |
Het |
| Fam83d |
C |
T |
2: 158,627,793 (GRCm39) |
T494M |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,611,132 (GRCm39) |
V553M |
probably damaging |
Het |
| Gal3st2 |
A |
G |
1: 93,801,379 (GRCm39) |
T12A |
probably damaging |
Het |
| Gba2 |
G |
A |
4: 43,570,175 (GRCm39) |
T373I |
probably benign |
Het |
| Kitl |
T |
A |
10: 99,912,744 (GRCm39) |
C154S |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,001,091 (GRCm39) |
C2044* |
probably null |
Het |
| Lrp6 |
G |
T |
6: 134,427,900 (GRCm39) |
S1564* |
probably null |
Het |
| Manea |
A |
T |
4: 26,340,965 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
T |
C |
2: 181,438,982 (GRCm39) |
L168P |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,350,408 (GRCm39) |
E2244G |
possibly damaging |
Het |
| Nsd3 |
T |
G |
8: 26,203,515 (GRCm39) |
V1343G |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,187,250 (GRCm39) |
|
probably benign |
Het |
| Obox6 |
T |
C |
7: 15,568,628 (GRCm39) |
I83V |
probably benign |
Het |
| Or12k5 |
A |
T |
2: 36,895,321 (GRCm39) |
F102I |
probably damaging |
Het |
| Or13a24 |
A |
T |
7: 140,154,413 (GRCm39) |
T116S |
possibly damaging |
Het |
| Pdgfra |
T |
C |
5: 75,331,241 (GRCm39) |
V282A |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,736,303 (GRCm39) |
|
probably benign |
Het |
| Pmfbp1 |
A |
T |
8: 110,268,365 (GRCm39) |
I971F |
possibly damaging |
Het |
| Ppp6c |
T |
C |
2: 39,089,683 (GRCm39) |
T199A |
probably benign |
Het |
| Ptpra |
A |
G |
2: 30,333,308 (GRCm39) |
T3A |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,435,974 (GRCm39) |
M897K |
probably benign |
Het |
| Rptn |
A |
C |
3: 93,304,436 (GRCm39) |
S590R |
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,115,482 (GRCm39) |
D947G |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,575 (GRCm39) |
T229A |
probably damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,744,719 (GRCm39) |
M423K |
probably damaging |
Het |
| Slc6a12 |
T |
A |
6: 121,329,015 (GRCm39) |
I111N |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,252,519 (GRCm39) |
L561I |
probably damaging |
Het |
| Spag5 |
A |
G |
11: 78,195,358 (GRCm39) |
N222D |
probably benign |
Het |
| Spp2 |
G |
A |
1: 88,344,965 (GRCm39) |
M54I |
probably benign |
Het |
| Sptbn4 |
T |
C |
7: 27,063,940 (GRCm39) |
E847G |
possibly damaging |
Het |
| Timd2 |
T |
A |
11: 46,569,050 (GRCm39) |
N203Y |
probably damaging |
Het |
| Togaram1 |
G |
T |
12: 65,030,195 (GRCm39) |
D1000Y |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 111,663,604 (GRCm39) |
R258C |
probably damaging |
Het |
| Uts2r |
A |
C |
11: 121,051,523 (GRCm39) |
D129A |
probably damaging |
Het |
| Vmn2r102 |
G |
A |
17: 19,914,191 (GRCm39) |
M585I |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,452,836 (GRCm39) |
R518* |
probably null |
Het |
| Wdfy4 |
C |
T |
14: 32,871,523 (GRCm39) |
R296K |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,356,415 (GRCm39) |
K3725N |
probably benign |
Het |
| Xntrpc |
T |
C |
7: 101,727,036 (GRCm39) |
S142P |
probably benign |
Het |
| Zfat |
T |
C |
15: 68,052,678 (GRCm39) |
H372R |
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 |
|
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 |
|
R6219:Ano2
|
UTSW |
6 |
125,792,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation