Incidental Mutation 'R8392:Ano2'
| ID |
647419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano2
|
| Ensembl Gene |
ENSMUSG00000038115 |
| Gene Name |
anoctamin 2 |
| Synonyms |
Tmem16b |
| MMRRC Submission |
067757-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R8392 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125667382-126017089 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125857698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 512
(N512K)
|
| 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: N178K
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000123965
Gene: ENSMUSG00000038115
AA Change: N178K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
21 |
181 |
1.7e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160496
AA Change: N512K
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: N512K
| 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: N481K
| 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: 99.5%
- 20x: 98.3%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
G |
A |
5: 81,794,397 (GRCm39) |
A473T |
probably benign |
Het |
| Arhgap18 |
A |
T |
10: 26,721,936 (GRCm39) |
Y41F |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,969,908 (GRCm39) |
D584V |
probably damaging |
Het |
| Ccl2 |
A |
T |
11: 81,927,808 (GRCm39) |
Q84L |
probably damaging |
Het |
| Cdv3 |
T |
A |
9: 103,232,474 (GRCm39) |
H245L |
probably benign |
Het |
| Cfap54 |
T |
G |
10: 92,798,279 (GRCm39) |
K1660T |
unknown |
Het |
| Col4a1 |
T |
A |
8: 11,258,333 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
TTGCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG |
19: 37,152,291 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
G |
A |
16: 3,902,145 (GRCm39) |
R2365W |
possibly damaging |
Het |
| Crppa |
T |
A |
12: 36,440,497 (GRCm39) |
L135Q |
probably damaging |
Het |
| Ctsc |
A |
T |
7: 87,946,451 (GRCm39) |
Q160L |
probably benign |
Het |
| Cyp4a10 |
C |
T |
4: 115,386,675 (GRCm39) |
R441* |
probably null |
Het |
| Cyp8b1 |
T |
C |
9: 121,744,300 (GRCm39) |
E344G |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,607,869 (GRCm39) |
F3801L |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,352,550 (GRCm39) |
R2568G |
possibly damaging |
Het |
| Erbin |
T |
A |
13: 103,970,570 (GRCm39) |
E1015D |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,716 (GRCm39) |
E768G |
probably damaging |
Het |
| H2ac13 |
C |
T |
13: 21,900,656 (GRCm39) |
A22V |
unknown |
Het |
| Ildr1 |
G |
A |
16: 36,542,720 (GRCm39) |
W417* |
probably null |
Het |
| Ildr1 |
G |
T |
16: 36,542,721 (GRCm39) |
D418Y |
probably damaging |
Het |
| Kdsr |
A |
T |
1: 106,671,583 (GRCm39) |
M142K |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,040,727 (GRCm39) |
V111E |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,180,284 (GRCm39) |
E631G |
probably benign |
Het |
| Muc13 |
G |
A |
16: 33,619,789 (GRCm39) |
G179D |
unknown |
Het |
| Nebl |
T |
A |
2: 17,457,363 (GRCm39) |
T66S |
probably benign |
Het |
| Npsr1 |
T |
A |
9: 24,221,377 (GRCm39) |
I277N |
possibly damaging |
Het |
| Or1j20 |
T |
G |
2: 36,760,352 (GRCm39) |
I258S |
probably damaging |
Het |
| Or6c213 |
T |
A |
10: 129,573,910 (GRCm39) |
N292I |
probably damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,139,212 (GRCm39) |
Y280* |
probably null |
Het |
| Pitrm1 |
T |
C |
13: 6,599,696 (GRCm39) |
I46T |
probably benign |
Het |
| Plxnc1 |
A |
G |
10: 94,637,352 (GRCm39) |
V1308A |
possibly damaging |
Het |
| Ppp1r9a |
T |
C |
6: 5,143,491 (GRCm39) |
|
probably null |
Het |
| Ptgdr |
A |
G |
14: 45,096,379 (GRCm39) |
M111T |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,866,370 (GRCm39) |
K850R |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Smtnl2 |
T |
A |
11: 72,293,993 (GRCm39) |
M188L |
probably benign |
Het |
| Snip1 |
G |
A |
4: 124,960,618 (GRCm39) |
V25M |
probably damaging |
Het |
| Spock3 |
A |
C |
8: 63,808,345 (GRCm39) |
D411A |
unknown |
Het |
| Sptbn4 |
C |
T |
7: 27,071,721 (GRCm39) |
R1581H |
probably damaging |
Het |
| Stard13 |
A |
G |
5: 150,965,627 (GRCm39) |
S1080P |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,070,566 (GRCm39) |
C2407S |
possibly damaging |
Het |
| Tanc1 |
T |
C |
2: 59,636,651 (GRCm39) |
S845P |
probably damaging |
Het |
| Tnfsf13 |
T |
C |
11: 69,574,688 (GRCm39) |
Y202C |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,559,374 (GRCm39) |
C632* |
probably null |
Het |
| Tsr1 |
C |
A |
11: 74,791,096 (GRCm39) |
T225K |
probably benign |
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 |
|
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'- GTGTCCATTCCTAAACCCAGTTTG -3'
(R):5'- GATCTACTTGCCATGACAGCC -3'
Sequencing Primer
(F):5'- CTAAACCCAGTTTGATGTATTTGTGG -3'
(R):5'- ATGACAGCCTGTTCCCAAGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation