Incidental Mutation 'R7532:Ano2'
| ID |
583363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano2
|
| Ensembl Gene |
ENSMUSG00000038115 |
| Gene Name |
anoctamin 2 |
| Synonyms |
Tmem16b |
| MMRRC Submission |
045604-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R7532 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125667382-126017089 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125940667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 597
(I597F)
|
| 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 damaging
Transcript: ENSMUST00000160496
AA Change: I597F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: I597F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add3 |
T |
A |
19: 53,220,589 (GRCm39) |
I174K |
probably damaging |
Het |
| Ap1g1 |
T |
C |
8: 110,586,796 (GRCm39) |
V813A |
probably damaging |
Het |
| Bpnt1 |
A |
T |
1: 185,084,523 (GRCm39) |
I207F |
possibly damaging |
Het |
| Brinp3 |
T |
A |
1: 146,777,139 (GRCm39) |
W529R |
probably damaging |
Het |
| C2cd2l |
C |
T |
9: 44,226,681 (GRCm39) |
R355Q |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 62,356,915 (GRCm39) |
C784* |
probably null |
Het |
| Cdh20 |
A |
T |
1: 110,065,889 (GRCm39) |
D721V |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,721,193 (GRCm39) |
I994V |
unknown |
Het |
| Cst13 |
T |
G |
2: 148,665,127 (GRCm39) |
Y41D |
probably benign |
Het |
| Cyth2 |
C |
T |
7: 45,457,448 (GRCm39) |
A342T |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,878,700 (GRCm39) |
L563P |
probably damaging |
Het |
| Dclk3 |
T |
G |
9: 111,296,596 (GRCm39) |
S47A |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,618,011 (GRCm39) |
N3183K |
probably benign |
Het |
| Enpp1 |
C |
T |
10: 24,551,885 (GRCm39) |
V165M |
probably benign |
Het |
| Ephx3 |
T |
C |
17: 32,407,763 (GRCm39) |
N173S |
possibly damaging |
Het |
| Erc1 |
T |
A |
6: 119,756,592 (GRCm39) |
D388V |
probably benign |
Het |
| Esp34 |
T |
G |
17: 38,870,511 (GRCm39) |
V135G |
possibly damaging |
Het |
| Gfy |
G |
A |
7: 44,827,461 (GRCm39) |
P212S |
probably damaging |
Het |
| Gm5239 |
C |
T |
18: 35,669,795 (GRCm39) |
R54C |
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,942,107 (GRCm39) |
F113L |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,837,233 (GRCm39) |
D775V |
probably damaging |
Het |
| Ifrd2 |
T |
G |
9: 107,469,721 (GRCm39) |
S431R |
probably damaging |
Het |
| Impg2 |
G |
A |
16: 56,087,543 (GRCm39) |
A1121T |
probably damaging |
Het |
| Irx1 |
A |
G |
13: 72,108,314 (GRCm39) |
F123L |
possibly damaging |
Het |
| Itgb6 |
C |
T |
2: 60,499,557 (GRCm39) |
V79I |
probably benign |
Het |
| Kcnd3 |
G |
A |
3: 105,575,526 (GRCm39) |
R550H |
probably damaging |
Het |
| Klhl9 |
A |
T |
4: 88,639,090 (GRCm39) |
S384T |
possibly damaging |
Het |
| Kng2 |
T |
C |
16: 22,845,794 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
C |
19: 33,560,464 (GRCm39) |
N67S |
possibly damaging |
Het |
| Mgst1 |
T |
C |
6: 138,130,504 (GRCm39) |
S78P |
probably benign |
Het |
| Ms4a14 |
A |
G |
19: 11,281,323 (GRCm39) |
Y412H |
possibly damaging |
Het |
| Mucl2 |
A |
C |
15: 103,926,318 (GRCm39) |
I124S |
unknown |
Het |
| Myh3 |
A |
G |
11: 66,981,921 (GRCm39) |
M806V |
probably benign |
Het |
| Nelfcd |
T |
C |
2: 174,268,189 (GRCm39) |
L501P |
probably damaging |
Het |
| Nlrp6 |
C |
A |
7: 140,505,097 (GRCm39) |
P748Q |
probably benign |
Het |
| Or1j13 |
C |
T |
2: 36,370,138 (GRCm39) |
M1I |
probably null |
Het |
| Or6n2 |
T |
C |
1: 173,897,664 (GRCm39) |
S267P |
probably benign |
Het |
| Plxna2 |
G |
A |
1: 194,327,127 (GRCm39) |
A354T |
probably benign |
Het |
| Prpf39 |
G |
T |
12: 65,100,145 (GRCm39) |
V273L |
probably benign |
Het |
| Rad9a |
T |
C |
19: 4,251,522 (GRCm39) |
|
probably benign |
Het |
| Rnf135 |
A |
G |
11: 80,089,732 (GRCm39) |
D356G |
probably benign |
Het |
| Rragd |
G |
T |
4: 33,004,166 (GRCm39) |
A153S |
possibly damaging |
Het |
| Selenot |
G |
T |
3: 58,492,653 (GRCm39) |
V47L |
probably benign |
Het |
| Smc2 |
T |
C |
4: 52,451,013 (GRCm39) |
L277P |
probably damaging |
Het |
| Sp7 |
A |
G |
15: 102,267,584 (GRCm39) |
F92S |
possibly damaging |
Het |
| Spata1 |
A |
T |
3: 146,173,946 (GRCm39) |
I380N |
possibly damaging |
Het |
| Spdye4b |
G |
T |
5: 143,180,652 (GRCm39) |
R39S |
possibly damaging |
Het |
| Spmip9 |
T |
C |
6: 70,890,621 (GRCm39) |
K57R |
probably benign |
Het |
| Stom |
C |
A |
2: 35,211,589 (GRCm39) |
R144L |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,486 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,249,565 (GRCm39) |
T998A |
probably benign |
Het |
| Vcl |
C |
A |
14: 21,079,392 (GRCm39) |
A965D |
probably damaging |
Het |
| Vmn1r69 |
A |
T |
7: 10,314,281 (GRCm39) |
V150D |
probably damaging |
Het |
| Vmn1r90 |
T |
G |
7: 14,295,189 (GRCm39) |
N303T |
possibly damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,059,622 (GRCm39) |
M429K |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,106 (GRCm39) |
Y247F |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,239,260 (GRCm39) |
S168T |
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 |
|
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'- CTGAACAGATTGCCCTGACG -3'
(R):5'- GCACGATACAGGCAGGATTC -3'
Sequencing Primer
(F):5'- GAACAGATTGCCCTGACGTTCTC -3'
(R):5'- AGGATTCCTGCCGGCTTAAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation