Incidental Mutation 'R2698:Ano2'
ID |
251315 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano2
|
Ensembl Gene |
ENSMUSG00000038115 |
Gene Name |
anoctamin 2 |
Synonyms |
Tmem16b |
MMRRC Submission |
040436-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R2698 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
125667382-126017089 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 125689309 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 145
(L145I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125303
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160496]
|
AlphaFold |
Q8CFW1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159111
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160496
AA Change: L145I
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000125303 Gene: ENSMUSG00000038115 AA Change: L145I
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 |
noncoding transcript
Transcript: ENSMUST00000161293
|
SMART Domains |
Protein: ENSMUSP00000124001 Gene: ENSMUSG00000038115
Domain | Start | End | E-Value | Type |
low complexity region
|
63 |
74 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000161619
AA Change: L114I
|
SMART Domains |
Protein: ENSMUSP00000125426 Gene: ENSMUSG00000038115 AA Change: L114I
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
100% (63/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,578,862 (GRCm39) |
R901G |
possibly damaging |
Het |
Abhd18 |
T |
A |
3: 40,885,401 (GRCm39) |
M262K |
probably benign |
Het |
Ckap5 |
T |
C |
2: 91,408,426 (GRCm39) |
W874R |
probably damaging |
Het |
Cox4i1 |
G |
T |
8: 121,396,102 (GRCm39) |
|
probably benign |
Het |
Cwc27 |
A |
T |
13: 104,943,259 (GRCm39) |
N94K |
probably damaging |
Het |
Dcaf11 |
T |
C |
14: 55,804,342 (GRCm39) |
S372P |
probably damaging |
Het |
Dpysl4 |
A |
G |
7: 138,676,681 (GRCm39) |
N356S |
probably damaging |
Het |
Dusp8 |
A |
G |
7: 141,635,701 (GRCm39) |
|
probably benign |
Het |
Erc2 |
G |
A |
14: 27,993,662 (GRCm39) |
V894M |
probably benign |
Het |
Fbxo28 |
T |
A |
1: 182,144,719 (GRCm39) |
I282F |
probably benign |
Het |
Fsd2 |
T |
C |
7: 81,195,608 (GRCm39) |
T434A |
probably damaging |
Het |
Gabra4 |
T |
C |
5: 71,729,421 (GRCm39) |
H453R |
probably benign |
Het |
Glrx |
T |
A |
13: 75,988,065 (GRCm39) |
|
probably null |
Het |
Gm11541 |
A |
T |
11: 94,586,441 (GRCm39) |
L102* |
probably null |
Het |
Gm5113 |
T |
A |
7: 29,878,150 (GRCm39) |
Y79* |
probably null |
Het |
Gpr87 |
T |
A |
3: 59,086,587 (GRCm39) |
N306I |
probably damaging |
Het |
Hydin |
T |
A |
8: 111,336,561 (GRCm39) |
Y5113N |
possibly damaging |
Het |
Iqsec3 |
C |
T |
6: 121,390,430 (GRCm39) |
|
probably benign |
Het |
Kbtbd8 |
C |
A |
6: 95,103,570 (GRCm39) |
Y406* |
probably null |
Het |
Lamb1 |
G |
T |
12: 31,348,882 (GRCm39) |
R590L |
probably benign |
Het |
Lin54 |
A |
T |
5: 100,628,109 (GRCm39) |
N31K |
probably damaging |
Het |
Lnpk |
T |
C |
2: 74,367,845 (GRCm39) |
E165G |
probably damaging |
Het |
Lrp4 |
C |
T |
2: 91,305,557 (GRCm39) |
R276C |
probably damaging |
Het |
Lrrc7 |
T |
A |
3: 157,841,028 (GRCm39) |
T1384S |
probably benign |
Het |
Mia2 |
T |
C |
12: 59,217,780 (GRCm39) |
|
probably null |
Het |
Morc2a |
T |
C |
11: 3,635,400 (GRCm39) |
V797A |
probably damaging |
Het |
Mrps23 |
T |
C |
11: 88,096,193 (GRCm39) |
|
probably benign |
Het |
Muc17 |
A |
T |
5: 137,175,484 (GRCm39) |
I62K |
probably damaging |
Het |
Nlrp4g |
T |
A |
9: 124,349,630 (GRCm38) |
|
noncoding transcript |
Het |
Nptx1 |
A |
T |
11: 119,435,669 (GRCm39) |
|
probably benign |
Het |
Or1j20 |
T |
A |
2: 36,760,208 (GRCm39) |
I210K |
possibly damaging |
Het |
Pabpc1l |
T |
G |
2: 163,886,302 (GRCm39) |
|
probably null |
Het |
Pdcd6ip |
A |
T |
9: 113,503,575 (GRCm39) |
|
probably null |
Het |
Plcg1 |
A |
G |
2: 160,603,383 (GRCm39) |
T1185A |
possibly damaging |
Het |
Plcxd1 |
A |
G |
5: 110,250,349 (GRCm39) |
Q230R |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,824,282 (GRCm39) |
|
probably null |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptch1 |
T |
A |
13: 63,690,038 (GRCm39) |
N320Y |
probably damaging |
Het |
Qars1 |
G |
A |
9: 108,385,642 (GRCm39) |
V60I |
possibly damaging |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rhag |
T |
C |
17: 41,147,367 (GRCm39) |
S410P |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,300,970 (GRCm39) |
K297E |
probably benign |
Het |
Rps6ka4 |
T |
C |
19: 6,814,720 (GRCm39) |
E294G |
probably benign |
Het |
Scaf4 |
T |
A |
16: 90,041,244 (GRCm39) |
I695F |
unknown |
Het |
Scrn2 |
T |
C |
11: 96,923,122 (GRCm39) |
|
probably benign |
Het |
Scx |
T |
A |
15: 76,342,363 (GRCm39) |
C188S |
probably damaging |
Het |
Sdk1 |
G |
T |
5: 142,197,805 (GRCm39) |
V1893L |
possibly damaging |
Het |
Sema5a |
C |
A |
15: 32,673,546 (GRCm39) |
Q795K |
probably damaging |
Het |
Slc24a3 |
A |
G |
2: 145,455,487 (GRCm39) |
S459G |
probably benign |
Het |
Smurf1 |
A |
G |
5: 144,820,372 (GRCm39) |
|
probably benign |
Het |
Taar4 |
T |
C |
10: 23,837,328 (GRCm39) |
Y313H |
probably damaging |
Het |
Tmprss11c |
A |
G |
5: 86,419,322 (GRCm39) |
F79S |
probably damaging |
Het |
Tnfaip8l2 |
T |
A |
3: 95,047,672 (GRCm39) |
I64F |
possibly damaging |
Het |
Trbv13-1 |
A |
G |
6: 41,093,372 (GRCm39) |
T102A |
probably damaging |
Het |
Trpa1 |
A |
T |
1: 14,976,222 (GRCm39) |
N160K |
probably damaging |
Het |
Ttc22 |
A |
G |
4: 106,496,435 (GRCm39) |
Y495C |
probably benign |
Het |
Usp50 |
A |
G |
2: 126,619,949 (GRCm39) |
I121T |
probably damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,678,885 (GRCm39) |
S780P |
probably damaging |
Het |
Vmn2r66 |
A |
T |
7: 84,644,607 (GRCm39) |
V601D |
probably damaging |
Het |
Wapl |
G |
A |
14: 34,413,734 (GRCm39) |
A199T |
probably benign |
Het |
Zfp658 |
A |
G |
7: 43,222,969 (GRCm39) |
T415A |
possibly damaging |
Het |
Zfp760 |
C |
T |
17: 21,939,935 (GRCm39) |
T9I |
probably damaging |
Het |
Zfp998 |
A |
G |
13: 66,581,495 (GRCm39) |
S59P |
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 |
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'- GCATGCACTTTCACGACAAC -3'
(R):5'- AAAACTCTGCTGCAAGGCC -3'
Sequencing Primer
(F):5'- CCAGAGGAAAGTCGACTATGTACTTG -3'
(R):5'- CCTGGGCAAAAGTATCTGCTTTAC -3'
|
Posted On |
2014-12-04 |