Incidental Mutation 'R8746:Ano2'
ID |
663549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano2
|
Ensembl Gene |
ENSMUSG00000038115 |
Gene Name |
anoctamin 2 |
Synonyms |
Tmem16b |
MMRRC Submission |
068590-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R8746 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
125667382-126017089 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125840513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 395
(I395V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125303
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159984]
[ENSMUST00000160496]
|
AlphaFold |
Q8CFW1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000159984
AA Change: I65V
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000123965 Gene: ENSMUSG00000038115 AA Change: I65V
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
21 |
181 |
1.7e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160496
AA Change: I395V
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000125303 Gene: ENSMUSG00000038115 AA Change: I395V
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 |
|
SMART Domains |
Protein: ENSMUSP00000125426 Gene: ENSMUSG00000038115 AA Change: I364V
Domain | Start | End | E-Value | Type |
low complexity region
|
63 |
74 |
N/A |
INTRINSIC |
Pfam:Anoctamin
|
262 |
425 |
1.9e-39 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (52/52) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,451,529 (GRCm39) |
M871K |
probably benign |
Het |
5530400C23Rik |
A |
C |
6: 133,271,256 (GRCm39) |
E100A |
possibly damaging |
Het |
Aatf |
A |
T |
11: 84,402,338 (GRCm39) |
I116N |
probably benign |
Het |
Abcb11 |
G |
T |
2: 69,087,754 (GRCm39) |
|
probably benign |
Het |
Adarb2 |
G |
T |
13: 8,802,680 (GRCm39) |
A652S |
probably benign |
Het |
Adgb |
C |
T |
10: 10,281,028 (GRCm39) |
|
probably null |
Het |
Ankrd34a |
C |
T |
3: 96,504,791 (GRCm39) |
|
probably benign |
Het |
Cadm2 |
C |
A |
16: 66,581,696 (GRCm39) |
R203L |
probably damaging |
Het |
Ccr2 |
T |
C |
9: 123,906,448 (GRCm39) |
F243L |
probably benign |
Het |
Ccr4 |
A |
G |
9: 114,321,918 (GRCm39) |
V49A |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,803,465 (GRCm39) |
G833R |
probably damaging |
Het |
Corin |
T |
C |
5: 72,592,695 (GRCm39) |
D234G |
probably benign |
Het |
Drd5 |
G |
T |
5: 38,477,433 (GRCm39) |
R142I |
probably benign |
Het |
Dsg1b |
A |
G |
18: 20,529,056 (GRCm39) |
D264G |
probably damaging |
Het |
Ezh2 |
T |
C |
6: 47,553,534 (GRCm39) |
K61R |
probably damaging |
Het |
Frmd4b |
T |
A |
6: 97,269,370 (GRCm39) |
T981S |
probably benign |
Het |
Gcg |
T |
A |
2: 62,305,325 (GRCm39) |
K180N |
probably damaging |
Het |
Gm10840 |
G |
A |
11: 106,051,742 (GRCm39) |
E23K |
unknown |
Het |
Gm2696 |
T |
G |
10: 77,651,037 (GRCm39) |
C174W |
unknown |
Het |
Grin2b |
T |
C |
6: 135,899,985 (GRCm39) |
I299V |
probably benign |
Het |
Hepacam |
T |
A |
9: 37,293,030 (GRCm39) |
V207E |
probably damaging |
Het |
Igf1r |
T |
A |
7: 67,864,745 (GRCm39) |
M1181K |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,806,384 (GRCm39) |
S96P |
possibly damaging |
Het |
Marf1 |
T |
A |
16: 13,935,168 (GRCm39) |
E1533D |
probably benign |
Het |
Megf9 |
A |
G |
4: 70,353,511 (GRCm39) |
C432R |
probably damaging |
Het |
Mpp2 |
A |
G |
11: 101,954,040 (GRCm39) |
Y236H |
probably damaging |
Het |
Neb |
T |
C |
2: 52,172,613 (GRCm39) |
I1565V |
probably damaging |
Het |
Or2y1f |
A |
G |
11: 49,183,993 (GRCm39) |
|
probably benign |
Het |
Or56b2j |
A |
T |
7: 104,353,067 (GRCm39) |
I98F |
probably damaging |
Het |
Or5ac21 |
T |
A |
16: 59,123,973 (GRCm39) |
F152L |
probably benign |
Het |
Or5b3 |
A |
G |
19: 13,388,092 (GRCm39) |
D53G |
probably benign |
Het |
Or5g24-ps1 |
T |
A |
2: 85,464,221 (GRCm39) |
Y149* |
probably null |
Het |
Or6f1 |
C |
T |
7: 85,970,437 (GRCm39) |
C241Y |
probably damaging |
Het |
Or9k2b |
T |
C |
10: 130,016,086 (GRCm39) |
Y221C |
probably damaging |
Het |
Patj |
T |
A |
4: 98,394,067 (GRCm39) |
|
probably benign |
Het |
Pknox1 |
A |
T |
17: 31,809,624 (GRCm39) |
Q76L |
possibly damaging |
Het |
Plekhg1 |
C |
A |
10: 3,907,777 (GRCm39) |
T953K |
|
Het |
Plekhn1 |
C |
A |
4: 156,316,682 (GRCm39) |
R333L |
probably damaging |
Het |
Plk5 |
T |
A |
10: 80,194,610 (GRCm39) |
V111D |
probably benign |
Het |
Polr1b |
A |
G |
2: 128,954,597 (GRCm39) |
I398M |
possibly damaging |
Het |
Ranbp3 |
T |
C |
17: 57,009,826 (GRCm39) |
V137A |
probably benign |
Het |
Rc3h1 |
T |
A |
1: 160,757,744 (GRCm39) |
F21I |
probably damaging |
Het |
Rgs8 |
T |
C |
1: 153,547,537 (GRCm39) |
S56P |
probably damaging |
Het |
Rhpn1 |
G |
A |
15: 75,585,425 (GRCm39) |
V593M |
probably damaging |
Het |
Sdad1 |
A |
G |
5: 92,437,784 (GRCm39) |
S589P |
probably benign |
Het |
Skp1 |
A |
G |
11: 52,136,843 (GRCm39) |
K163R |
probably damaging |
Het |
Slf2 |
A |
G |
19: 44,962,063 (GRCm39) |
Y1080C |
probably damaging |
Het |
Tcf4 |
C |
T |
18: 69,654,572 (GRCm39) |
|
probably benign |
Het |
Tmem144 |
C |
T |
3: 79,732,655 (GRCm39) |
V208M |
probably damaging |
Het |
Tomm34 |
A |
T |
2: 163,902,884 (GRCm39) |
L142Q |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,176,120 (GRCm39) |
V2316D |
unknown |
Het |
Yme1l1 |
T |
A |
2: 23,052,543 (GRCm39) |
S66T |
probably benign |
Het |
Zfc3h1 |
T |
C |
10: 115,243,885 (GRCm39) |
S739P |
probably damaging |
Het |
Zscan25 |
T |
A |
5: 145,224,157 (GRCm39) |
V209E |
possibly 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 |
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 |
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'- ATACGGGGAGTATATGATGTTCC -3'
(R):5'- TGACCATGATGACCAGCAGG -3'
Sequencing Primer
(F):5'- GCTGGGGTTGTATACATCAT -3'
(R):5'- AGGGCTCTGCAACCTCTAGAC -3'
|
Posted On |
2021-03-08 |