Incidental Mutation 'R5699:Ano2'
ID |
446564 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano2
|
Ensembl Gene |
ENSMUSG00000038115 |
Gene Name |
anoctamin 2 |
Synonyms |
Tmem16b |
MMRRC Submission |
043327-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R5699 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
125667382-126017089 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125849703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 475
(E475G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125303
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159984]
[ENSMUST00000160496]
|
AlphaFold |
Q8CFW1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159111
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159984
AA Change: E145G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123965 Gene: ENSMUSG00000038115 AA Change: E145G
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
21 |
181 |
1.7e-41 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160317
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160496
AA Change: E475G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125303 Gene: ENSMUSG00000038115 AA Change: E475G
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 |
unknown
Transcript: ENSMUST00000161619
AA Change: E444G
|
SMART Domains |
Protein: ENSMUSP00000125426 Gene: ENSMUSG00000038115 AA Change: E444G
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700128F08Rik |
A |
G |
9: 8,225,320 (GRCm39) |
|
noncoding transcript |
Het |
4930486L24Rik |
A |
G |
13: 61,001,410 (GRCm39) |
F106L |
possibly damaging |
Het |
Adam11 |
A |
T |
11: 102,664,466 (GRCm39) |
M385L |
probably benign |
Het |
Adgre1 |
C |
T |
17: 57,788,007 (GRCm39) |
P925S |
probably benign |
Het |
Adh7 |
G |
A |
3: 137,932,087 (GRCm39) |
A234T |
probably benign |
Het |
C2cd4c |
A |
G |
10: 79,448,385 (GRCm39) |
V254A |
probably benign |
Het |
Car13 |
A |
G |
3: 14,715,749 (GRCm39) |
Y89C |
probably damaging |
Het |
Cd38 |
A |
G |
5: 44,057,728 (GRCm39) |
K100R |
probably damaging |
Het |
Cdh11 |
A |
G |
8: 103,361,175 (GRCm39) |
I721T |
probably damaging |
Het |
Cdh2 |
G |
A |
18: 16,779,579 (GRCm39) |
Q161* |
probably null |
Het |
Clk1 |
T |
C |
1: 58,459,354 (GRCm39) |
K135R |
probably damaging |
Het |
Col5a1 |
G |
A |
2: 27,887,611 (GRCm39) |
G961R |
unknown |
Het |
Cpt1b |
T |
A |
15: 89,308,476 (GRCm39) |
I151F |
probably benign |
Het |
Cyp51 |
A |
G |
5: 4,151,213 (GRCm39) |
F139L |
probably damaging |
Het |
Disp1 |
TTGA |
T |
1: 182,870,119 (GRCm39) |
|
probably null |
Het |
Dnah8 |
T |
C |
17: 31,029,298 (GRCm39) |
I4089T |
probably benign |
Het |
Dnali1 |
C |
T |
4: 124,952,843 (GRCm39) |
V227M |
possibly damaging |
Het |
Eml4 |
T |
G |
17: 83,717,514 (GRCm39) |
S29A |
probably benign |
Het |
Eps8l3 |
C |
A |
3: 107,786,895 (GRCm39) |
P24T |
probably benign |
Het |
Fancc |
A |
T |
13: 63,478,446 (GRCm39) |
|
probably null |
Het |
Firrm |
A |
T |
1: 163,785,120 (GRCm39) |
V753D |
probably benign |
Het |
Grid2 |
G |
A |
6: 63,885,975 (GRCm39) |
A124T |
probably damaging |
Het |
Ikbke |
C |
T |
1: 131,204,204 (GRCm39) |
|
probably null |
Het |
Kyat1 |
G |
A |
2: 30,076,662 (GRCm39) |
A284V |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lmbrd2 |
G |
T |
15: 9,175,269 (GRCm39) |
L393F |
probably benign |
Het |
Lrrc26 |
T |
A |
2: 25,180,536 (GRCm39) |
L179Q |
probably damaging |
Het |
Mlx |
A |
G |
11: 100,979,520 (GRCm39) |
D113G |
possibly damaging |
Het |
Myod1 |
A |
G |
7: 46,026,407 (GRCm39) |
K104R |
probably damaging |
Het |
Nwd1 |
G |
A |
8: 73,429,602 (GRCm39) |
|
probably null |
Het |
Or56b2j |
T |
G |
7: 104,353,200 (GRCm39) |
V142G |
probably damaging |
Het |
Or5b118 |
A |
G |
19: 13,448,336 (GRCm39) |
M1V |
probably null |
Het |
Or6c3 |
A |
C |
10: 129,308,746 (GRCm39) |
N62H |
probably damaging |
Het |
Pacsin3 |
A |
T |
2: 91,093,126 (GRCm39) |
Y206F |
probably damaging |
Het |
Pcdhgb5 |
T |
A |
18: 37,864,970 (GRCm39) |
V255E |
probably damaging |
Het |
Pdp1 |
T |
C |
4: 11,960,907 (GRCm39) |
D468G |
possibly damaging |
Het |
Pgr |
C |
T |
9: 8,900,600 (GRCm39) |
|
probably benign |
Het |
Prrt2 |
T |
A |
7: 126,617,899 (GRCm39) |
Y345F |
probably benign |
Het |
Rbbp8nl |
T |
C |
2: 179,920,461 (GRCm39) |
T515A |
probably damaging |
Het |
Rc3h1 |
G |
T |
1: 160,757,823 (GRCm39) |
R47L |
probably damaging |
Het |
Rfpl4b |
T |
A |
10: 38,697,281 (GRCm39) |
I107F |
possibly damaging |
Het |
Rsbn1 |
T |
C |
3: 103,869,801 (GRCm39) |
F754S |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scn3a |
T |
C |
2: 65,337,608 (GRCm39) |
T630A |
possibly damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slco1a5 |
C |
A |
6: 142,194,542 (GRCm39) |
C367F |
probably damaging |
Het |
Slit1 |
A |
G |
19: 41,613,959 (GRCm39) |
|
probably null |
Het |
Slit2 |
G |
A |
5: 48,378,333 (GRCm39) |
|
probably null |
Het |
Snrnp40 |
G |
T |
4: 130,258,958 (GRCm39) |
G122V |
possibly damaging |
Het |
Stk16 |
T |
A |
1: 75,190,248 (GRCm39) |
M111K |
probably damaging |
Het |
Tbc1d2 |
T |
C |
4: 46,616,298 (GRCm39) |
I477V |
probably benign |
Het |
Tll1 |
T |
A |
8: 64,570,974 (GRCm39) |
E199D |
probably damaging |
Het |
Trhde |
A |
T |
10: 114,424,407 (GRCm39) |
D459E |
probably benign |
Het |
Ttn |
T |
C |
2: 76,541,881 (GRCm39) |
R25375G |
possibly damaging |
Het |
Tubgcp2 |
A |
T |
7: 139,578,701 (GRCm39) |
M757K |
possibly damaging |
Het |
Ubap1l |
T |
A |
9: 65,279,337 (GRCm39) |
V212D |
possibly damaging |
Het |
Ubqln5 |
A |
G |
7: 103,778,632 (GRCm39) |
V64A |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,709,204 (GRCm39) |
M1337V |
probably benign |
Het |
Vmn1r201 |
T |
A |
13: 22,659,409 (GRCm39) |
Y208N |
probably damaging |
Het |
Xkr8 |
C |
T |
4: 132,455,368 (GRCm39) |
R335H |
probably damaging |
Het |
Zbtb49 |
A |
T |
5: 38,373,870 (GRCm39) |
C25S |
probably damaging |
Het |
Zeb2 |
T |
A |
2: 44,887,800 (GRCm39) |
N404I |
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 |
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 |
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'- TCTAGGCACTCAAGGATGTAGAG -3'
(R):5'- CATTTGAACTCCCAATGGTGC -3'
Sequencing Primer
(F):5'- CCACAGGGCTTAATGCTTTAATAAG -3'
(R):5'- TGAACTCCCAATGGTGCTTATAAACC -3'
|
Posted On |
2016-11-21 |