Incidental Mutation 'R5748:Hcn1'
| ID |
445891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hcn1
|
| Ensembl Gene |
ENSMUSG00000021730 |
| Gene Name |
hyperpolarization activated cyclic nucleotide gated potassium channel 1 |
| Synonyms |
C630013B14Rik, HAC2, hyperpolarization-activated, cyclic nucleotide-gated K+ 1, Bcng1 |
| MMRRC Submission |
043355-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
117738856-118117564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118112591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 852
(S852C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006991]
|
| AlphaFold |
O88704 |
| PDB Structure |
Tetramerization dynamics of the C-terminus underlies isoform-specific cAMP-gating in HCN channels [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006991
AA Change: S852C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000006991
Gene: ENSMUSG00000021730
AA Change: S852C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans_N
|
87 |
130 |
8.2e-24 |
PFAM |
|
Pfam:Ion_trans
|
131 |
394 |
2.1e-23 |
PFAM |
|
low complexity region
|
395 |
406 |
N/A |
INTRINSIC |
|
Blast:cNMP
|
407 |
439 |
4e-13 |
BLAST |
|
cNMP
|
464 |
580 |
1.95e-22 |
SMART |
|
low complexity region
|
639 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
660 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
779 |
N/A |
INTRINSIC |
|
low complexity region
|
878 |
886 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for disruptions in this allele display learning deficiencies but are otherwise normal. Mice homozygous for another targeted knock-out exhibit deficit in hyperpolarization-activated currents and cold allodynia following partial nerve ligation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,739,447 (GRCm39) |
Q285R |
probably damaging |
Het |
| Acy1 |
T |
A |
9: 106,313,926 (GRCm39) |
N78I |
probably damaging |
Het |
| Anln |
T |
C |
9: 22,249,230 (GRCm39) |
K166E |
probably damaging |
Het |
| C1qtnf4 |
A |
G |
2: 90,719,877 (GRCm39) |
D50G |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 45,692,818 (GRCm39) |
T100A |
probably damaging |
Het |
| Cxcr6 |
C |
T |
9: 123,639,406 (GRCm39) |
R143C |
probably damaging |
Het |
| Dhx16 |
T |
C |
17: 36,194,206 (GRCm39) |
L439P |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,425,898 (GRCm39) |
V257A |
probably benign |
Het |
| Ebpl |
A |
T |
14: 61,597,793 (GRCm39) |
L16Q |
probably null |
Het |
| Eml5 |
T |
A |
12: 98,791,814 (GRCm39) |
Y1234F |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,200,702 (GRCm39) |
D793G |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,751,778 (GRCm39) |
Y324H |
probably benign |
Het |
| Invs |
A |
G |
4: 48,307,823 (GRCm39) |
T83A |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,016,677 (GRCm39) |
L155P |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,511,759 (GRCm39) |
D107V |
probably damaging |
Het |
| Mcm9 |
A |
T |
10: 53,501,825 (GRCm39) |
H253Q |
probably damaging |
Het |
| Mcmdc2 |
A |
G |
1: 9,982,032 (GRCm39) |
Y30C |
probably damaging |
Het |
| Mdga1 |
C |
T |
17: 30,069,525 (GRCm39) |
D174N |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,731,510 (GRCm39) |
R62H |
probably damaging |
Het |
| Mrgpra2b |
A |
G |
7: 47,152,280 (GRCm39) |
|
probably benign |
Het |
| Nacad |
T |
A |
11: 6,548,370 (GRCm39) |
K1426* |
probably null |
Het |
| Ndufb6 |
A |
G |
4: 40,279,234 (GRCm39) |
L35S |
probably damaging |
Het |
| Niban2 |
A |
T |
2: 32,809,581 (GRCm39) |
K260M |
probably damaging |
Het |
| Nkapl |
A |
G |
13: 21,651,779 (GRCm39) |
I278T |
probably benign |
Het |
| Nrbp2 |
T |
C |
15: 75,961,332 (GRCm39) |
E263G |
probably damaging |
Het |
| Nup85 |
T |
A |
11: 115,471,338 (GRCm39) |
L110Q |
probably damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,293 (GRCm39) |
N141S |
possibly damaging |
Het |
| Or1e35 |
A |
G |
11: 73,797,721 (GRCm39) |
I199T |
probably damaging |
Het |
| Or2t6 |
T |
C |
14: 14,175,314 (GRCm38) |
Y256C |
probably damaging |
Het |
| Or4a78 |
A |
T |
2: 89,498,146 (GRCm39) |
M28K |
possibly damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,379 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or6b2b |
T |
A |
1: 92,418,815 (GRCm39) |
I221F |
probably damaging |
Het |
| Polr2m |
C |
T |
9: 71,390,918 (GRCm39) |
D95N |
probably benign |
Het |
| Popdc2 |
A |
T |
16: 38,194,665 (GRCm39) |
D362V |
probably damaging |
Het |
| Pot1a |
A |
T |
6: 25,758,855 (GRCm39) |
I308N |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGTCGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rundc3a |
G |
A |
11: 102,290,225 (GRCm39) |
E189K |
possibly damaging |
Het |
| Scaf1 |
A |
C |
7: 44,662,230 (GRCm39) |
|
probably null |
Het |
| Scaper |
T |
C |
9: 55,766,360 (GRCm39) |
|
probably null |
Het |
| Sh3glb1 |
C |
T |
3: 144,418,410 (GRCm39) |
C51Y |
probably damaging |
Het |
| Slc10a5 |
T |
C |
3: 10,400,391 (GRCm39) |
T90A |
probably benign |
Het |
| Slc17a3 |
T |
A |
13: 24,040,449 (GRCm39) |
S336T |
probably damaging |
Het |
| Slc41a2 |
C |
A |
10: 83,133,023 (GRCm39) |
C341F |
probably benign |
Het |
| Spata31 |
A |
G |
13: 65,068,127 (GRCm39) |
*67W |
probably null |
Het |
| Stap2 |
C |
T |
17: 56,307,475 (GRCm39) |
|
probably null |
Het |
| Stt3a |
A |
T |
9: 36,663,696 (GRCm39) |
M182K |
probably benign |
Het |
| Tcfl5 |
G |
A |
2: 180,284,050 (GRCm39) |
|
silent |
Het |
| Tmx3 |
T |
C |
18: 90,555,225 (GRCm39) |
V314A |
probably benign |
Het |
| Upf1 |
A |
G |
8: 70,791,167 (GRCm39) |
L525P |
probably damaging |
Het |
| Wdr6 |
T |
C |
9: 108,452,981 (GRCm39) |
I301V |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,107,025 (GRCm39) |
|
probably null |
Het |
| Zfp273 |
T |
C |
13: 67,973,450 (GRCm39) |
Y160H |
probably damaging |
Het |
|
| Other mutations in Hcn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Hcn1
|
APN |
13 |
118,112,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00340:Hcn1
|
APN |
13 |
117,739,513 (GRCm39) |
missense |
unknown |
|
|
IGL01161:Hcn1
|
APN |
13 |
117,793,458 (GRCm39) |
missense |
unknown |
|
|
IGL01723:Hcn1
|
APN |
13 |
118,112,591 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02324:Hcn1
|
APN |
13 |
118,039,422 (GRCm39) |
missense |
unknown |
|
|
IGL02491:Hcn1
|
APN |
13 |
117,946,576 (GRCm39) |
missense |
unknown |
|
|
Thump
|
UTSW |
13 |
118,010,441 (GRCm39) |
nonsense |
probably null |
|
|
FR4976:Hcn1
|
UTSW |
13 |
118,112,344 (GRCm39) |
small insertion |
probably benign |
|
|
PIT4504001:Hcn1
|
UTSW |
13 |
118,112,411 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0420:Hcn1
|
UTSW |
13 |
118,111,911 (GRCm39) |
missense |
unknown |
|
|
R1546:Hcn1
|
UTSW |
13 |
118,112,302 (GRCm39) |
small insertion |
probably benign |
|
|
R1558:Hcn1
|
UTSW |
13 |
118,112,112 (GRCm39) |
missense |
unknown |
|
|
R1659:Hcn1
|
UTSW |
13 |
118,112,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1667:Hcn1
|
UTSW |
13 |
117,739,609 (GRCm39) |
missense |
unknown |
|
|
R1766:Hcn1
|
UTSW |
13 |
117,793,270 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1842:Hcn1
|
UTSW |
13 |
118,112,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2051:Hcn1
|
UTSW |
13 |
118,112,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3605:Hcn1
|
UTSW |
13 |
118,111,788 (GRCm39) |
missense |
unknown |
|
|
R4259:Hcn1
|
UTSW |
13 |
118,111,884 (GRCm39) |
missense |
unknown |
|
|
R4284:Hcn1
|
UTSW |
13 |
118,112,269 (GRCm39) |
small deletion |
probably benign |
|
|
R4637:Hcn1
|
UTSW |
13 |
118,112,249 (GRCm39) |
missense |
unknown |
|
|
R4679:Hcn1
|
UTSW |
13 |
117,793,551 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4777:Hcn1
|
UTSW |
13 |
118,112,269 (GRCm39) |
small deletion |
probably benign |
|
|
R4839:Hcn1
|
UTSW |
13 |
118,062,246 (GRCm39) |
missense |
unknown |
|
|
R4883:Hcn1
|
UTSW |
13 |
118,039,431 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5015:Hcn1
|
UTSW |
13 |
117,739,556 (GRCm39) |
missense |
unknown |
|
|
R5060:Hcn1
|
UTSW |
13 |
118,010,441 (GRCm39) |
nonsense |
probably null |
|
|
R5823:Hcn1
|
UTSW |
13 |
117,739,388 (GRCm39) |
missense |
unknown |
|
|
R6900:Hcn1
|
UTSW |
13 |
117,793,363 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7045:Hcn1
|
UTSW |
13 |
118,111,998 (GRCm39) |
missense |
unknown |
|
|
R7049:Hcn1
|
UTSW |
13 |
118,111,998 (GRCm39) |
missense |
unknown |
|
|
R7163:Hcn1
|
UTSW |
13 |
118,062,083 (GRCm39) |
missense |
unknown |
|
|
R7534:Hcn1
|
UTSW |
13 |
118,111,961 (GRCm39) |
missense |
unknown |
|
|
R7722:Hcn1
|
UTSW |
13 |
118,039,314 (GRCm39) |
missense |
unknown |
|
|
R7984:Hcn1
|
UTSW |
13 |
118,112,609 (GRCm39) |
nonsense |
probably null |
|
|
R8083:Hcn1
|
UTSW |
13 |
118,112,296 (GRCm39) |
small insertion |
probably benign |
|
|
R8171:Hcn1
|
UTSW |
13 |
117,739,270 (GRCm39) |
missense |
unknown |
|
|
R8223:Hcn1
|
UTSW |
13 |
118,010,406 (GRCm39) |
missense |
unknown |
|
|
R8240:Hcn1
|
UTSW |
13 |
118,112,269 (GRCm39) |
small deletion |
probably benign |
|
|
R8853:Hcn1
|
UTSW |
13 |
118,112,269 (GRCm39) |
small deletion |
probably benign |
|
|
R9054:Hcn1
|
UTSW |
13 |
118,108,171 (GRCm39) |
missense |
unknown |
|
|
R9224:Hcn1
|
UTSW |
13 |
118,062,254 (GRCm39) |
missense |
unknown |
|
|
R9241:Hcn1
|
UTSW |
13 |
117,793,249 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9324:Hcn1
|
UTSW |
13 |
118,111,901 (GRCm39) |
missense |
unknown |
|
|
R9632:Hcn1
|
UTSW |
13 |
118,010,522 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9758:Hcn1
|
UTSW |
13 |
118,112,305 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACACCTGGTAGCTCCACAC -3'
(R):5'- TCTGCTTTGACAATCATCAAGAATC -3'
Sequencing Primer
(F):5'- TGGTAGCTCCACACCGAAAAATG -3'
(R):5'- TCATAAATTCGAAGCAAAACGGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation