Incidental Mutation 'R2040:Ano2'
ID |
225519 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano2
|
Ensembl Gene |
ENSMUSG00000038115 |
Gene Name |
anoctamin 2 |
Synonyms |
Tmem16b |
MMRRC Submission |
040047-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R2040 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
125667382-126017089 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 126016471 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 1001
(N1001K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125303
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159984]
[ENSMUST00000160496]
|
AlphaFold |
Q8CFW1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000159984
|
SMART Domains |
Protein: ENSMUSP00000123965 Gene: ENSMUSG00000038115
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
21 |
181 |
1.7e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160496
AA Change: N1001K
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000125303 Gene: ENSMUSG00000038115 AA Change: N1001K
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 |
probably benign
Transcript: ENSMUST00000161619
|
SMART Domains |
Protein: ENSMUSP00000125426 Gene: ENSMUSG00000038115
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 |
0.0612 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
99% (67/68) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
T |
5: 107,693,607 (GRCm39) |
I75L |
probably benign |
Het |
Abca2 |
T |
C |
2: 25,333,817 (GRCm39) |
L1755P |
probably damaging |
Het |
Adam6b |
A |
T |
12: 113,454,364 (GRCm39) |
I394L |
probably benign |
Het |
Arap2 |
A |
T |
5: 62,906,259 (GRCm39) |
N253K |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,604,227 (GRCm39) |
C1316R |
probably benign |
Het |
Atox1 |
T |
C |
11: 55,341,343 (GRCm39) |
Y64C |
probably benign |
Het |
Atp13a1 |
A |
G |
8: 70,259,702 (GRCm39) |
T1098A |
possibly damaging |
Het |
Casr |
T |
C |
16: 36,330,728 (GRCm39) |
E202G |
possibly damaging |
Het |
Cct2 |
T |
C |
10: 116,889,018 (GRCm39) |
T494A |
probably benign |
Het |
Cd209e |
T |
A |
8: 3,899,158 (GRCm39) |
N185Y |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,917,088 (GRCm39) |
L295P |
probably damaging |
Het |
Cyp26a1 |
A |
G |
19: 37,686,499 (GRCm39) |
T48A |
possibly damaging |
Het |
Elovl3 |
A |
G |
19: 46,121,567 (GRCm39) |
S37G |
probably benign |
Het |
Fbh1 |
T |
G |
2: 11,774,706 (GRCm39) |
D13A |
possibly damaging |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Frem3 |
G |
T |
8: 81,342,455 (GRCm39) |
V1583L |
possibly damaging |
Het |
Gm21863 |
C |
A |
12: 20,004,515 (GRCm39) |
Q4K |
possibly damaging |
Het |
Gm266 |
T |
C |
12: 111,452,132 (GRCm39) |
T25A |
possibly damaging |
Het |
Gm8674 |
T |
C |
13: 50,055,705 (GRCm39) |
|
noncoding transcript |
Het |
Greb1 |
T |
C |
12: 16,752,651 (GRCm39) |
H897R |
probably damaging |
Het |
Hells |
A |
G |
19: 38,943,474 (GRCm39) |
D565G |
probably damaging |
Het |
Hfm1 |
C |
T |
5: 107,049,684 (GRCm39) |
V426I |
probably damaging |
Het |
Ints6 |
G |
A |
14: 62,951,138 (GRCm39) |
T297I |
probably damaging |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
A |
T |
7: 30,268,845 (GRCm39) |
M2628K |
probably damaging |
Het |
Ktn1 |
T |
G |
14: 47,938,069 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
A |
13: 13,815,807 (GRCm39) |
D1230E |
probably benign |
Het |
Mboat1 |
T |
C |
13: 30,425,300 (GRCm39) |
|
probably null |
Het |
Moxd2 |
T |
C |
6: 40,861,887 (GRCm39) |
|
probably null |
Het |
Mtmr4 |
T |
C |
11: 87,495,916 (GRCm39) |
M527T |
probably damaging |
Het |
Myt1 |
T |
A |
2: 181,467,717 (GRCm39) |
N1050K |
probably damaging |
Het |
Ncoa6 |
A |
T |
2: 155,248,000 (GRCm39) |
V1768E |
probably damaging |
Het |
Nelfcd |
G |
A |
2: 174,261,875 (GRCm39) |
C48Y |
probably damaging |
Het |
Opn3 |
G |
A |
1: 175,491,145 (GRCm39) |
A296V |
possibly damaging |
Het |
Or13a22 |
T |
C |
7: 140,073,295 (GRCm39) |
I248T |
probably benign |
Het |
Or2z8 |
T |
A |
8: 72,811,607 (GRCm39) |
F28I |
possibly damaging |
Het |
Pam |
T |
C |
1: 97,792,167 (GRCm39) |
E418G |
possibly damaging |
Het |
Prrc2c |
A |
T |
1: 162,525,126 (GRCm39) |
N493K |
probably damaging |
Het |
Ptpn18 |
A |
G |
1: 34,509,300 (GRCm39) |
Q165R |
probably damaging |
Het |
Ptpro |
C |
A |
6: 137,363,162 (GRCm39) |
|
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,833,107 (GRCm39) |
F132S |
probably damaging |
Het |
Robo1 |
T |
C |
16: 72,730,630 (GRCm39) |
C244R |
probably damaging |
Het |
Robo3 |
A |
C |
9: 37,338,760 (GRCm39) |
V316G |
probably damaging |
Het |
Rsl1 |
T |
C |
13: 67,330,145 (GRCm39) |
S198P |
probably damaging |
Het |
Rsph9 |
T |
C |
17: 46,445,910 (GRCm39) |
D220G |
probably damaging |
Het |
Rxfp2 |
A |
C |
5: 149,993,677 (GRCm39) |
I580L |
probably benign |
Het |
Septin7 |
G |
A |
9: 25,199,532 (GRCm39) |
A144T |
possibly damaging |
Het |
Sfn |
T |
C |
4: 133,328,603 (GRCm39) |
K160E |
probably benign |
Het |
Ski |
A |
G |
4: 155,306,029 (GRCm39) |
Y317H |
probably damaging |
Het |
Skic3 |
A |
C |
13: 76,328,222 (GRCm39) |
R1423S |
probably damaging |
Het |
Slc22a22 |
A |
T |
15: 57,110,936 (GRCm39) |
Y430* |
probably null |
Het |
Src |
A |
G |
2: 157,299,030 (GRCm39) |
K9R |
probably benign |
Het |
Srm |
C |
T |
4: 148,678,453 (GRCm39) |
P255L |
possibly damaging |
Het |
Stpg4 |
T |
A |
17: 87,730,075 (GRCm39) |
N90I |
probably damaging |
Het |
Sytl2 |
T |
A |
7: 90,031,069 (GRCm39) |
|
probably benign |
Het |
Tbpl2 |
T |
C |
2: 23,984,871 (GRCm39) |
K92R |
probably benign |
Het |
Tlcd4 |
G |
T |
3: 121,024,975 (GRCm39) |
|
probably benign |
Het |
Tmem38a |
T |
A |
8: 73,335,096 (GRCm39) |
N178K |
probably damaging |
Het |
Tnfaip3 |
T |
C |
10: 18,883,900 (GRCm39) |
D160G |
possibly damaging |
Het |
Vegfb |
T |
A |
19: 6,963,407 (GRCm39) |
H119L |
possibly damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,767,395 (GRCm39) |
I701F |
probably damaging |
Het |
Vmn2r95 |
C |
T |
17: 18,661,561 (GRCm39) |
L436F |
probably damaging |
Het |
Wdr47 |
T |
C |
3: 108,530,688 (GRCm39) |
C394R |
probably benign |
Het |
Ythdc2 |
T |
A |
18: 44,988,241 (GRCm39) |
Y16* |
probably null |
Het |
Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
Zfp353-ps |
A |
G |
8: 42,535,333 (GRCm39) |
|
noncoding transcript |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAGAGCTTGCTGGTAGACTTC -3'
(R):5'- TCCCTGAAAGGACACAGCTC -3'
Sequencing Primer
(F):5'- CTTCTTTCTGAAGGAGGAGCATGAG -3'
(R):5'- TGAAAGGACACAGCTCAAAAGTC -3'
|
Posted On |
2014-08-25 |