Incidental Mutation 'R4904:Kcnq5'
| ID |
378007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnq5
|
| Ensembl Gene |
ENSMUSG00000028033 |
| Gene Name |
potassium voltage-gated channel, subfamily Q, member 5 |
| Synonyms |
9230107O05Rik, D1Mgi1 |
| MMRRC Submission |
042507-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.313)
|
| Stock # |
R4904 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
21468627-22032166 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21494324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 501
(V501A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029667]
[ENSMUST00000115300]
[ENSMUST00000173058]
[ENSMUST00000173404]
[ENSMUST00000174183]
|
| AlphaFold |
Q9JK45 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029667
AA Change: V510A
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000029667
Gene: ENSMUSG00000028033
AA Change: V510A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
82 |
N/A |
INTRINSIC |
|
transmembrane domain
|
128 |
150 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
163 |
347 |
1.7e-26 |
PFAM |
|
Pfam:Ion_trans_2
|
272 |
352 |
5.3e-15 |
PFAM |
|
Pfam:KCNQ_channel
|
446 |
648 |
3.6e-95 |
PFAM |
|
low complexity region
|
848 |
858 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115300
AA Change: V529A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110955
Gene: ENSMUSG00000028033
AA Change: V529A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
82 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
126 |
359 |
4.1e-28 |
PFAM |
|
Pfam:Ion_trans_2
|
272 |
352 |
3.3e-16 |
PFAM |
|
Pfam:KCNQ_channel
|
467 |
661 |
1.8e-98 |
PFAM |
|
low complexity region
|
867 |
877 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173058
|
| SMART Domains |
Protein: ENSMUSP00000134166
Gene: ENSMUSG00000028033
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
82 |
N/A |
INTRINSIC |
|
transmembrane domain
|
128 |
150 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
163 |
347 |
2e-26 |
PFAM |
|
Pfam:Ion_trans_2
|
272 |
352 |
3.1e-15 |
PFAM |
|
Pfam:KCNQ_channel
|
405 |
538 |
8e-64 |
PFAM |
|
low complexity region
|
738 |
748 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173404
AA Change: V501A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134076
Gene: ENSMUSG00000028033
AA Change: V501A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
82 |
N/A |
INTRINSIC |
|
transmembrane domain
|
128 |
150 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
163 |
347 |
2.4e-26 |
PFAM |
|
Pfam:Ion_trans_2
|
272 |
352 |
3.6e-15 |
PFAM |
|
Pfam:KCNQ_channel
|
437 |
639 |
2e-95 |
PFAM |
|
low complexity region
|
839 |
849 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174183
|
| SMART Domains |
Protein: ENSMUSP00000134389
Gene: ENSMUSG00000028033
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
82 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2929 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
94% (82/87) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for a dominant negative knock-in mutation in this gene exhibit partial prenatal lethality and abnormal afterhyperpolarization in the in the CA3 area of hippocampus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
T |
G |
4: 129,906,332 (GRCm39) |
I920S |
possibly damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,871,786 (GRCm39) |
I556T |
probably benign |
Het |
| Ankfy1 |
C |
A |
11: 72,642,931 (GRCm39) |
H665N |
probably benign |
Het |
| Aqp9 |
A |
C |
9: 71,069,685 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
A |
G |
2: 20,854,872 (GRCm39) |
S1497P |
probably benign |
Het |
| Armc7 |
A |
G |
11: 115,379,800 (GRCm39) |
D166G |
probably damaging |
Het |
| Arrdc1 |
C |
A |
2: 24,816,676 (GRCm39) |
V167F |
possibly damaging |
Het |
| Col6a3 |
A |
T |
1: 90,729,164 (GRCm39) |
I1259N |
probably damaging |
Het |
| Coq8a |
C |
T |
1: 180,006,168 (GRCm39) |
R207Q |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dcbld1 |
C |
T |
10: 52,196,066 (GRCm39) |
Q425* |
probably null |
Het |
| Def8 |
A |
G |
8: 124,188,219 (GRCm39) |
N445D |
probably damaging |
Het |
| Dicer1 |
C |
T |
12: 104,679,325 (GRCm39) |
V551I |
probably benign |
Het |
| Dst |
A |
T |
1: 34,208,879 (GRCm39) |
T800S |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,300,457 (GRCm39) |
C136S |
probably damaging |
Het |
| Duox1 |
T |
A |
2: 122,151,345 (GRCm39) |
Y310N |
probably damaging |
Het |
| Duxf1 |
T |
A |
10: 58,059,309 (GRCm39) |
R482* |
probably null |
Het |
| Ebf1 |
T |
C |
11: 44,759,996 (GRCm39) |
F211S |
probably damaging |
Het |
| Gm44501 |
A |
T |
17: 40,889,884 (GRCm39) |
I133F |
possibly damaging |
Het |
| Gm6625 |
T |
C |
8: 89,873,379 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
T |
16: 36,713,748 (GRCm39) |
D243V |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gtf2a1l |
G |
A |
17: 88,997,471 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
C |
7: 55,807,234 (GRCm39) |
F2471L |
probably damaging |
Het |
| Hfe |
A |
T |
13: 23,892,037 (GRCm39) |
I109N |
probably damaging |
Het |
| Hrg |
A |
G |
16: 22,770,000 (GRCm39) |
E43G |
probably benign |
Het |
| Hspa1a |
T |
C |
17: 35,189,427 (GRCm39) |
D492G |
probably damaging |
Het |
| Itgb8 |
T |
C |
12: 119,134,606 (GRCm39) |
D487G |
probably benign |
Het |
| Jag1 |
A |
G |
2: 136,929,062 (GRCm39) |
V798A |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,916,396 (GRCm39) |
V743A |
possibly damaging |
Het |
| Ly86 |
G |
T |
13: 37,599,496 (GRCm39) |
V126F |
possibly damaging |
Het |
| Med26 |
A |
T |
8: 73,250,691 (GRCm39) |
L136H |
probably damaging |
Het |
| Mpp3 |
T |
C |
11: 101,891,413 (GRCm39) |
D575G |
probably benign |
Het |
| Myoc |
G |
A |
1: 162,466,994 (GRCm39) |
M54I |
probably benign |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,133,454 (GRCm39) |
|
noncoding transcript |
Het |
| Or10v9 |
C |
T |
19: 11,833,231 (GRCm39) |
V29M |
possibly damaging |
Het |
| Or51t4 |
A |
G |
7: 102,598,272 (GRCm39) |
Y190C |
probably damaging |
Het |
| Or5v1b |
A |
G |
17: 37,841,522 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pak5 |
A |
T |
2: 135,925,267 (GRCm39) |
D678E |
probably benign |
Het |
| Pcdhb12 |
T |
C |
18: 37,570,909 (GRCm39) |
V685A |
possibly damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,802,932 (GRCm39) |
T259A |
possibly damaging |
Het |
| Pde6a |
A |
T |
18: 61,398,105 (GRCm39) |
M702L |
probably benign |
Het |
| Pigq |
A |
G |
17: 26,150,034 (GRCm39) |
|
probably benign |
Het |
| Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
| Ptch1 |
A |
C |
13: 63,670,818 (GRCm39) |
I904S |
probably damaging |
Het |
| Rflnb |
A |
T |
11: 75,912,964 (GRCm39) |
C141* |
probably null |
Het |
| Rilpl1 |
C |
A |
5: 124,652,807 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
T |
C |
14: 52,358,544 (GRCm39) |
S217P |
possibly damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,397,586 (GRCm39) |
I1292F |
probably damaging |
Het |
| Sema3a |
A |
C |
5: 13,631,066 (GRCm39) |
Y534S |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,866,080 (GRCm39) |
Y736C |
probably damaging |
Het |
| Shank1 |
G |
T |
7: 43,983,464 (GRCm39) |
|
probably benign |
Het |
| Slc45a4 |
G |
A |
15: 73,458,691 (GRCm39) |
S294F |
probably benign |
Het |
| Slc9a8 |
A |
G |
2: 167,313,316 (GRCm39) |
I393V |
possibly damaging |
Het |
| Sod1 |
T |
A |
16: 90,019,732 (GRCm39) |
F46Y |
probably damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,682,912 (GRCm39) |
D11G |
probably benign |
Het |
| Syn3 |
T |
G |
10: 86,302,950 (GRCm39) |
K68N |
possibly damaging |
Het |
| Taar8c |
C |
T |
10: 23,977,147 (GRCm39) |
V222I |
probably benign |
Het |
| Tbx20 |
T |
C |
9: 24,670,129 (GRCm39) |
K235E |
probably damaging |
Het |
| Tcaf3 |
C |
A |
6: 42,570,931 (GRCm39) |
E274* |
probably null |
Het |
| Tll1 |
A |
T |
8: 64,523,233 (GRCm39) |
M493K |
probably benign |
Het |
| Tmem236 |
T |
A |
2: 14,200,803 (GRCm39) |
S123T |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,238,963 (GRCm39) |
V647A |
possibly damaging |
Het |
| Tspear |
T |
A |
10: 77,705,489 (GRCm39) |
Y296N |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,882,015 (GRCm39) |
K1187E |
probably damaging |
Het |
| Xpot |
C |
T |
10: 121,453,083 (GRCm39) |
V52I |
probably benign |
Het |
| Zdhhc3 |
A |
T |
9: 122,929,452 (GRCm39) |
V61E |
probably damaging |
Het |
| Zfp955a |
A |
T |
17: 33,461,162 (GRCm39) |
C323* |
probably null |
Het |
|
| Other mutations in Kcnq5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00864:Kcnq5
|
APN |
1 |
21,575,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01603:Kcnq5
|
APN |
1 |
21,575,564 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02326:Kcnq5
|
APN |
1 |
21,472,816 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02624:Kcnq5
|
APN |
1 |
21,472,654 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03151:Kcnq5
|
APN |
1 |
21,605,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03367:Kcnq5
|
APN |
1 |
21,473,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Kcnq5
|
UTSW |
1 |
21,605,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0705:Kcnq5
|
UTSW |
1 |
21,605,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0798:Kcnq5
|
UTSW |
1 |
22,031,399 (GRCm39) |
splice site |
probably null |
|
|
R1263:Kcnq5
|
UTSW |
1 |
21,549,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1445:Kcnq5
|
UTSW |
1 |
21,475,248 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1465:Kcnq5
|
UTSW |
1 |
21,539,692 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1465:Kcnq5
|
UTSW |
1 |
21,539,692 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1497:Kcnq5
|
UTSW |
1 |
21,472,610 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1515:Kcnq5
|
UTSW |
1 |
21,472,905 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1610:Kcnq5
|
UTSW |
1 |
21,527,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Kcnq5
|
UTSW |
1 |
21,536,611 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1999:Kcnq5
|
UTSW |
1 |
21,472,428 (GRCm39) |
missense |
probably null |
0.18 |
|
R2060:Kcnq5
|
UTSW |
1 |
21,531,821 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2145:Kcnq5
|
UTSW |
1 |
21,575,573 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2314:Kcnq5
|
UTSW |
1 |
21,549,595 (GRCm39) |
splice site |
probably null |
|
|
R2511:Kcnq5
|
UTSW |
1 |
21,576,006 (GRCm39) |
nonsense |
probably null |
|
|
R2697:Kcnq5
|
UTSW |
1 |
21,549,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2886:Kcnq5
|
UTSW |
1 |
21,539,771 (GRCm39) |
nonsense |
probably null |
|
|
R2889:Kcnq5
|
UTSW |
1 |
21,472,526 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4176:Kcnq5
|
UTSW |
1 |
21,605,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Kcnq5
|
UTSW |
1 |
21,475,292 (GRCm39) |
splice site |
probably null |
|
|
R4720:Kcnq5
|
UTSW |
1 |
21,473,274 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5184:Kcnq5
|
UTSW |
1 |
21,472,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5268:Kcnq5
|
UTSW |
1 |
21,575,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5373:Kcnq5
|
UTSW |
1 |
22,031,795 (GRCm39) |
missense |
unknown |
|
|
R5397:Kcnq5
|
UTSW |
1 |
21,476,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5473:Kcnq5
|
UTSW |
1 |
21,527,626 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5490:Kcnq5
|
UTSW |
1 |
21,549,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5946:Kcnq5
|
UTSW |
1 |
21,575,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6941:Kcnq5
|
UTSW |
1 |
21,476,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6962:Kcnq5
|
UTSW |
1 |
21,576,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7201:Kcnq5
|
UTSW |
1 |
21,473,099 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7238:Kcnq5
|
UTSW |
1 |
21,472,526 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7375:Kcnq5
|
UTSW |
1 |
21,539,710 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7584:Kcnq5
|
UTSW |
1 |
21,472,545 (GRCm39) |
missense |
probably benign |
|
|
R7780:Kcnq5
|
UTSW |
1 |
22,031,555 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8043:Kcnq5
|
UTSW |
1 |
21,549,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Kcnq5
|
UTSW |
1 |
21,549,620 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8267:Kcnq5
|
UTSW |
1 |
21,575,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8363:Kcnq5
|
UTSW |
1 |
21,549,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8364:Kcnq5
|
UTSW |
1 |
21,549,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8370:Kcnq5
|
UTSW |
1 |
21,549,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Kcnq5
|
UTSW |
1 |
21,549,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8372:Kcnq5
|
UTSW |
1 |
21,549,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8374:Kcnq5
|
UTSW |
1 |
21,549,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8414:Kcnq5
|
UTSW |
1 |
21,549,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8528:Kcnq5
|
UTSW |
1 |
21,549,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8542:Kcnq5
|
UTSW |
1 |
21,549,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8669:Kcnq5
|
UTSW |
1 |
21,476,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8723:Kcnq5
|
UTSW |
1 |
21,575,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9000:Kcnq5
|
UTSW |
1 |
21,557,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9020:Kcnq5
|
UTSW |
1 |
21,539,463 (GRCm39) |
intron |
probably benign |
|
|
R9152:Kcnq5
|
UTSW |
1 |
21,539,692 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9426:Kcnq5
|
UTSW |
1 |
21,473,118 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Kcnq5
|
UTSW |
1 |
21,527,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGCAGCTAGTACAGTTCC -3'
(R):5'- TGGGTTTCTACCTCATCAGCTG -3'
Sequencing Primer
(F):5'- GCAGCTAGTACAGTTCCTTATGAAG -3'
(R):5'- CTGATTAAATGCTCAGTCTGCAAGGG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation