Incidental Mutation 'R7722:Hcn1'
| ID |
595296 |
| 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 |
045778-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7722 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
117738856-118117564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118039314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 410
(H410R)
|
| 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 |
unknown
Transcript: ENSMUST00000006991
AA Change: H410R
|
| SMART Domains |
Protein: ENSMUSP00000006991
Gene: ENSMUSG00000021730
AA Change: H410R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (57/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 14,029,231 (GRCm39) |
E151G |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,483,228 (GRCm39) |
L260H |
probably damaging |
Het |
| Amh |
T |
C |
10: 80,642,458 (GRCm39) |
V247A |
probably benign |
Het |
| Ank2 |
T |
A |
3: 126,822,951 (GRCm39) |
I431L |
probably benign |
Het |
| Ano7 |
G |
A |
1: 93,318,145 (GRCm39) |
A286T |
probably damaging |
Het |
| Atp8a1 |
T |
A |
5: 67,780,041 (GRCm39) |
|
probably null |
Het |
| Brd1 |
A |
T |
15: 88,613,762 (GRCm39) |
S378T |
probably damaging |
Het |
| Clrn1 |
T |
A |
3: 58,753,755 (GRCm39) |
N202I |
possibly damaging |
Het |
| Cspp1 |
T |
C |
1: 10,145,126 (GRCm39) |
V308A |
probably benign |
Het |
| Cyp2a5 |
T |
C |
7: 26,536,543 (GRCm39) |
L174P |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
| Fancm |
T |
A |
12: 65,153,235 (GRCm39) |
D1230E |
probably damaging |
Het |
| Fbxl17 |
A |
T |
17: 63,663,823 (GRCm39) |
N555K |
probably damaging |
Het |
| Fmnl2 |
A |
C |
2: 52,944,479 (GRCm39) |
S153R |
|
Het |
| Fras1 |
G |
A |
5: 96,917,413 (GRCm39) |
V3478M |
probably damaging |
Het |
| Gnptab |
T |
C |
10: 88,215,390 (GRCm39) |
F37S |
probably damaging |
Het |
| Gpr183 |
T |
G |
14: 122,192,270 (GRCm39) |
I84L |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,543,631 (GRCm39) |
V2848A |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,272,512 (GRCm39) |
R1331* |
probably null |
Het |
| Hsd17b4 |
A |
C |
18: 50,279,591 (GRCm39) |
N190T |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,492,689 (GRCm39) |
S1079P |
probably damaging |
Het |
| Kif14 |
A |
G |
1: 136,396,033 (GRCm39) |
D113G |
probably benign |
Het |
| Kmt2e |
T |
G |
5: 23,702,016 (GRCm39) |
D881E |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,373,570 (GRCm39) |
L1481Q |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,306,092 (GRCm39) |
|
probably null |
Het |
| Luc7l2 |
T |
A |
6: 38,580,243 (GRCm39) |
S281T |
unknown |
Het |
| Map3k5 |
A |
G |
10: 20,007,891 (GRCm39) |
D1240G |
probably benign |
Het |
| Med13l |
C |
A |
5: 118,885,472 (GRCm39) |
T1475K |
probably benign |
Het |
| Med17 |
G |
T |
9: 15,182,987 (GRCm39) |
Q353K |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,314,266 (GRCm39) |
V640A |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,517,201 (GRCm39) |
Y361N |
probably damaging |
Het |
| Mtmr2 |
T |
A |
9: 13,716,104 (GRCm39) |
N532K |
probably benign |
Het |
| Mtss1 |
G |
A |
15: 58,926,935 (GRCm39) |
T47I |
probably damaging |
Het |
| Mturn |
T |
C |
6: 54,676,545 (GRCm39) |
|
probably null |
Het |
| Muc20 |
A |
C |
16: 32,617,756 (GRCm39) |
S3A |
probably benign |
Het |
| Nde1 |
T |
C |
16: 14,008,128 (GRCm39) |
Y164H |
unknown |
Het |
| Neurl1b |
A |
G |
17: 26,660,132 (GRCm39) |
T451A |
probably benign |
Het |
| Or52u1 |
C |
A |
7: 104,237,505 (GRCm39) |
Q165K |
possibly damaging |
Het |
| Or8g18 |
A |
T |
9: 39,148,885 (GRCm39) |
Y278* |
probably null |
Het |
| Pgap3 |
G |
A |
11: 98,281,610 (GRCm39) |
A196V |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scart1 |
C |
A |
7: 139,802,299 (GRCm39) |
C209* |
probably null |
Het |
| Sdcbp |
T |
A |
4: 6,385,063 (GRCm39) |
V94E |
possibly damaging |
Het |
| Sgo2a |
T |
G |
1: 58,055,696 (GRCm39) |
F627V |
probably benign |
Het |
| Skor2 |
A |
C |
18: 76,950,339 (GRCm39) |
N889T |
probably benign |
Het |
| Slc35f4 |
A |
T |
14: 49,543,731 (GRCm39) |
N288K |
probably benign |
Het |
| Slc9b2 |
T |
A |
3: 135,035,596 (GRCm39) |
V355E |
probably null |
Het |
| Smarcc2 |
A |
G |
10: 128,317,597 (GRCm39) |
E566G |
possibly damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,200,871 (GRCm39) |
E559G |
probably damaging |
Het |
| Sphkap |
T |
C |
1: 83,256,642 (GRCm39) |
D369G |
probably benign |
Het |
| Stc1 |
T |
A |
14: 69,269,729 (GRCm39) |
I103N |
possibly damaging |
Het |
| Stx8 |
T |
C |
11: 68,094,544 (GRCm39) |
V219A |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,636,158 (GRCm39) |
R582C |
possibly damaging |
Het |
| Tshz2 |
T |
A |
2: 169,727,192 (GRCm39) |
L596Q |
probably benign |
Het |
| Tti1 |
A |
G |
2: 157,849,527 (GRCm39) |
Y571H |
probably benign |
Het |
| Zbtb40 |
A |
G |
4: 136,718,829 (GRCm39) |
I956T |
probably damaging |
Het |
| Zfp990 |
A |
C |
4: 145,263,532 (GRCm39) |
N177H |
possibly 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 |
|
|
R5748:Hcn1
|
UTSW |
13 |
118,112,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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'- TCCTTTAGACAGTATGACACCTG -3'
(R):5'- TAGACCAAAGGACTGTCTTAGAAG -3'
Sequencing Primer
(F):5'- GCTAATTGCTGCTATGACAAGGAC -3'
(R):5'- AAAGGACTGTCTTAGAAGAGTAAAAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation