Incidental Mutation 'R7153:Ano2'
ID |
554253 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano2
|
Ensembl Gene |
ENSMUSG00000038115 |
Gene Name |
anoctamin 2 |
Synonyms |
Tmem16b |
MMRRC Submission |
045255-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R7153 (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 125969906 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 741
(T741A)
|
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 |
possibly damaging
Transcript: ENSMUST00000160496
AA Change: T741A
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000125303 Gene: ENSMUSG00000038115 AA Change: T741A
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: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (75/75) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox4 |
T |
C |
1: 58,289,378 (GRCm39) |
M767T |
probably damaging |
Het |
Arhgap39 |
C |
A |
15: 76,649,691 (GRCm39) |
S27I |
probably benign |
Het |
AU018091 |
T |
A |
7: 3,209,353 (GRCm39) |
M296L |
probably benign |
Het |
Axin1 |
A |
G |
17: 26,406,942 (GRCm39) |
T512A |
probably benign |
Het |
B4galnt3 |
A |
T |
6: 120,191,929 (GRCm39) |
D602E |
probably benign |
Het |
Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
Bsnd |
A |
T |
4: 106,349,230 (GRCm39) |
D3E |
probably benign |
Het |
Btbd18 |
C |
T |
2: 84,496,772 (GRCm39) |
R137* |
probably null |
Het |
C2cd5 |
A |
G |
6: 142,965,135 (GRCm39) |
S871P |
probably benign |
Het |
Cobl |
G |
T |
11: 12,204,128 (GRCm39) |
P858Q |
probably damaging |
Het |
Col6a1 |
C |
T |
10: 76,546,175 (GRCm39) |
|
probably null |
Het |
Crb2 |
A |
T |
2: 37,677,420 (GRCm39) |
H304L |
probably benign |
Het |
Crybg1 |
T |
A |
10: 43,840,662 (GRCm39) |
Y1812F |
possibly damaging |
Het |
Ddx60 |
A |
T |
8: 62,441,142 (GRCm39) |
K1070N |
possibly damaging |
Het |
Defb22 |
T |
C |
2: 152,327,840 (GRCm39) |
K115R |
unknown |
Het |
Dhx8 |
C |
T |
11: 101,631,001 (GRCm39) |
|
probably null |
Het |
Dnah5 |
T |
A |
15: 28,365,668 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
A |
1: 46,165,964 (GRCm39) |
F543Y |
probably benign |
Het |
Ehhadh |
A |
G |
16: 21,585,071 (GRCm39) |
F270S |
probably damaging |
Het |
Esyt2 |
A |
G |
12: 116,310,128 (GRCm39) |
M397V |
probably benign |
Het |
Fanca |
A |
T |
8: 124,043,164 (GRCm39) |
L74H |
probably damaging |
Het |
Fbxl17 |
C |
A |
17: 63,367,346 (GRCm39) |
V676F |
probably benign |
Het |
Fndc1 |
A |
G |
17: 8,020,477 (GRCm39) |
V102A |
probably damaging |
Het |
Gpalpp1 |
T |
C |
14: 76,332,451 (GRCm39) |
Y273C |
probably damaging |
Het |
Gpatch8 |
TTCCTCCTCCTCCTCTTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC |
11: 102,371,014 (GRCm39) |
|
probably benign |
Het |
Grik2 |
T |
C |
10: 49,411,463 (GRCm39) |
H225R |
probably benign |
Het |
Helz2 |
A |
T |
2: 180,873,078 (GRCm39) |
S2411T |
probably benign |
Het |
Hnmt |
C |
T |
2: 23,904,353 (GRCm39) |
A103T |
probably damaging |
Het |
Ighv15-2 |
G |
T |
12: 114,528,210 (GRCm39) |
Y114* |
probably null |
Het |
Irak2 |
A |
G |
6: 113,655,670 (GRCm39) |
H357R |
probably benign |
Het |
Kcp |
T |
C |
6: 29,499,014 (GRCm39) |
E320G |
probably damaging |
Het |
Kpna4 |
A |
G |
3: 68,997,131 (GRCm39) |
L352S |
probably damaging |
Het |
Krt36 |
G |
A |
11: 99,995,972 (GRCm39) |
Q151* |
probably null |
Het |
Krt77 |
G |
A |
15: 101,773,931 (GRCm39) |
T241M |
probably benign |
Het |
Lca5l |
T |
A |
16: 95,975,009 (GRCm39) |
N305I |
probably damaging |
Het |
Lefty1 |
T |
A |
1: 180,765,332 (GRCm39) |
L300Q |
probably benign |
Het |
Mertk |
A |
G |
2: 128,578,569 (GRCm39) |
Y185C |
probably damaging |
Het |
Mmp14 |
T |
C |
14: 54,673,708 (GRCm39) |
I124T |
possibly damaging |
Het |
Nlrc4 |
T |
C |
17: 74,754,098 (GRCm39) |
E95G |
possibly damaging |
Het |
Npc1 |
A |
G |
18: 12,346,348 (GRCm39) |
F283L |
possibly damaging |
Het |
Or4k38 |
A |
T |
2: 111,166,246 (GRCm39) |
M59K |
probably damaging |
Het |
Or4p19 |
A |
C |
2: 88,242,462 (GRCm39) |
L180W |
probably damaging |
Het |
Pcdha11 |
T |
C |
18: 37,144,278 (GRCm39) |
V123A |
probably damaging |
Het |
Pcdhga2 |
T |
C |
18: 37,802,261 (GRCm39) |
V35A |
probably damaging |
Het |
Pgd |
G |
T |
4: 149,246,135 (GRCm39) |
T94K |
probably benign |
Het |
Pik3c2a |
T |
C |
7: 115,941,487 (GRCm39) |
N1593S |
probably damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Plcb3 |
A |
G |
19: 6,935,452 (GRCm39) |
|
probably null |
Het |
Prkd3 |
C |
T |
17: 79,273,784 (GRCm39) |
D491N |
probably benign |
Het |
Ptprf |
T |
C |
4: 118,088,740 (GRCm39) |
T688A |
probably damaging |
Het |
Pycr2 |
T |
A |
1: 180,734,247 (GRCm39) |
L210M |
probably damaging |
Het |
Rpl36 |
T |
C |
17: 56,921,137 (GRCm39) |
I81T |
probably benign |
Het |
Rraga |
C |
T |
4: 86,494,253 (GRCm39) |
A33V |
probably damaging |
Het |
Slc29a1 |
G |
A |
17: 45,896,688 (GRCm39) |
A429V |
probably damaging |
Het |
Stab1 |
T |
G |
14: 30,882,541 (GRCm39) |
E432A |
probably benign |
Het |
Synj1 |
C |
T |
16: 90,744,978 (GRCm39) |
G1189R |
probably benign |
Het |
Synpo2 |
A |
G |
3: 122,906,053 (GRCm39) |
*1088Q |
probably null |
Het |
Tbc1d21 |
T |
C |
9: 58,270,376 (GRCm39) |
D133G |
probably damaging |
Het |
Tenm2 |
A |
G |
11: 35,915,009 (GRCm39) |
V2176A |
probably damaging |
Het |
Tff1 |
A |
G |
17: 31,381,772 (GRCm39) |
I35T |
probably benign |
Het |
Thnsl1 |
T |
C |
2: 21,217,764 (GRCm39) |
V506A |
possibly damaging |
Het |
Timm10b |
A |
G |
7: 105,290,087 (GRCm39) |
Q50R |
unknown |
Het |
Tjp2 |
A |
T |
19: 24,079,345 (GRCm39) |
N843K |
probably benign |
Het |
Tle1 |
A |
T |
4: 72,057,298 (GRCm39) |
F101I |
probably benign |
Het |
Tmem225 |
T |
C |
9: 40,059,664 (GRCm39) |
F15L |
probably benign |
Het |
Trav12-3 |
T |
C |
14: 53,859,618 (GRCm39) |
L88P |
probably benign |
Het |
Ttc7b |
A |
T |
12: 100,321,293 (GRCm39) |
W613R |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,608,848 (GRCm39) |
M17723L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,775,660 (GRCm39) |
D1840G |
unknown |
Het |
Tubgcp2 |
T |
C |
7: 139,580,949 (GRCm39) |
H668R |
probably benign |
Het |
Ush2a |
C |
A |
1: 188,460,681 (GRCm39) |
N2647K |
possibly damaging |
Het |
Vmn1r14 |
C |
T |
6: 57,210,851 (GRCm39) |
S143F |
probably benign |
Het |
Vmn2r70 |
A |
G |
7: 85,214,262 (GRCm39) |
S297P |
probably damaging |
Het |
Ywhab |
T |
C |
2: 163,855,980 (GRCm39) |
F119L |
probably damaging |
Het |
Zmym2 |
T |
A |
14: 57,187,659 (GRCm39) |
D1108E |
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 |
|
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'- GATATGACTCTGCTTCCCAGG -3'
(R):5'- CCTTTTGGTGTGGTAGAAACCG -3'
Sequencing Primer
(F):5'- CTCTGCTTCCCAGGGTTTGTG -3'
(R):5'- CTCAGGAGAACAAGCATTGTCTTAGC -3'
|
Posted On |
2019-05-15 |