Incidental Mutation 'R8208:Hcn2'
| ID |
636015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hcn2
|
| Ensembl Gene |
ENSMUSG00000020331 |
| Gene Name |
hyperpolarization-activated, cyclic nucleotide-gated K+ 2 |
| Synonyms |
HAC1, trls |
| MMRRC Submission |
067631-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8208 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79552468-79571942 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79566778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 485
(M485K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020581]
[ENSMUST00000099513]
|
| AlphaFold |
O88703 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020581
AA Change: M485K
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331
AA Change: M485K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
128 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_N
|
140 |
183 |
5e-23 |
PFAM |
|
Pfam:Ion_trans
|
184 |
447 |
3.3e-24 |
PFAM |
|
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
|
Blast:cNMP
|
460 |
492 |
9e-13 |
BLAST |
|
cNMP
|
517 |
630 |
4.79e-22 |
SMART |
|
low complexity region
|
727 |
765 |
N/A |
INTRINSIC |
|
low complexity region
|
778 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
838 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099513
AA Change: M485K
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331
AA Change: M485K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
128 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_N
|
139 |
215 |
2.6e-47 |
PFAM |
|
Pfam:Ion_trans
|
219 |
435 |
1.5e-20 |
PFAM |
|
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
|
Blast:cNMP
|
460 |
492 |
9e-13 |
BLAST |
|
cNMP
|
517 |
630 |
4.79e-22 |
SMART |
|
low complexity region
|
727 |
765 |
N/A |
INTRINSIC |
|
low complexity region
|
778 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
838 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated by cAMP and can produce a fast, large current. Defects in this gene were noted as a possible cause of some forms of epilepsy. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for mutant alleles exhibit decreased body weight, behavioral/neurological abnormalities, and tremors or absence seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
G |
A |
6: 58,642,227 (GRCm39) |
V172I |
possibly damaging |
Het |
| Agbl1 |
T |
A |
7: 76,369,916 (GRCm39) |
C924S |
unknown |
Het |
| Arhgap11a |
T |
C |
2: 113,673,284 (GRCm39) |
S100G |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,763,891 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
T |
A |
6: 4,515,260 (GRCm39) |
|
probably null |
Het |
| Colec10 |
C |
G |
15: 54,325,696 (GRCm39) |
H175Q |
possibly damaging |
Het |
| Cyp46a1 |
A |
T |
12: 108,318,171 (GRCm39) |
|
probably null |
Het |
| Dennd4b |
T |
A |
3: 90,178,278 (GRCm39) |
I501N |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,411,678 (GRCm39) |
F315L |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,860 (GRCm39) |
E367G |
probably damaging |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Folh1 |
A |
T |
7: 86,375,125 (GRCm39) |
H620Q |
probably damaging |
Het |
| Galnt10 |
A |
T |
11: 57,536,398 (GRCm39) |
E5V |
possibly damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,698,381 (GRCm39) |
V172A |
probably damaging |
Het |
| Greb1l |
T |
C |
18: 10,510,703 (GRCm39) |
L599P |
probably damaging |
Het |
| Hirip3 |
G |
T |
7: 126,463,595 (GRCm39) |
C494F |
probably damaging |
Het |
| Hsfy2 |
A |
G |
1: 56,676,310 (GRCm39) |
F76L |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,777,426 (GRCm39) |
H24R |
possibly damaging |
Het |
| Laptm4b |
G |
A |
15: 34,277,591 (GRCm39) |
S174N |
probably damaging |
Het |
| Lgals8 |
A |
G |
13: 12,468,255 (GRCm39) |
Y125H |
probably damaging |
Het |
| Mapk14 |
A |
T |
17: 28,943,807 (GRCm39) |
Y132F |
probably damaging |
Het |
| Mxd4 |
A |
T |
5: 34,335,070 (GRCm39) |
I115N |
probably benign |
Het |
| Ndufaf1 |
T |
C |
2: 119,490,827 (GRCm39) |
T80A |
probably benign |
Het |
| Or10ag53 |
A |
G |
2: 87,083,007 (GRCm39) |
K242R |
probably benign |
Het |
| Or11h6 |
T |
C |
14: 50,880,088 (GRCm39) |
F117L |
probably benign |
Het |
| Or56a5 |
T |
A |
7: 104,792,625 (GRCm39) |
I298F |
probably damaging |
Het |
| Or5k3 |
C |
A |
16: 58,969,382 (GRCm39) |
H56Q |
probably benign |
Het |
| Pcf11 |
G |
T |
7: 92,298,731 (GRCm39) |
N1268K |
probably damaging |
Het |
| Plcl2 |
T |
C |
17: 50,915,343 (GRCm39) |
V784A |
probably damaging |
Het |
| Ptp4a2 |
C |
T |
4: 129,736,485 (GRCm39) |
T40I |
probably benign |
Het |
| Rab2b |
C |
T |
14: 52,502,224 (GRCm39) |
A159T |
possibly damaging |
Het |
| Sec61a2 |
G |
T |
2: 5,881,809 (GRCm39) |
T207K |
probably benign |
Het |
| Serpina5 |
A |
G |
12: 104,071,532 (GRCm39) |
I380V |
probably benign |
Het |
| Slc26a2 |
C |
T |
18: 61,331,806 (GRCm39) |
V542M |
probably damaging |
Het |
| Snd1 |
C |
T |
6: 28,526,054 (GRCm39) |
P144L |
possibly damaging |
Het |
| Spop |
C |
T |
11: 95,382,650 (GRCm39) |
R370C |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,074,972 (GRCm39) |
D1300G |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,878,326 (GRCm39) |
K891* |
noncoding transcript |
Het |
| Tnrc6b |
G |
A |
15: 80,742,901 (GRCm39) |
E45K |
possibly damaging |
Het |
| Tpst1 |
A |
G |
5: 130,130,751 (GRCm39) |
I74V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,556,192 (GRCm39) |
H30271R |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,606,990 (GRCm39) |
A3962S |
possibly damaging |
Het |
| Vmn1r200 |
G |
A |
13: 22,579,470 (GRCm39) |
R91H |
probably damaging |
Het |
| Vmn2r22 |
T |
A |
6: 123,614,444 (GRCm39) |
N382I |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,335,322 (GRCm39) |
S113P |
probably damaging |
Het |
| Zfp335 |
C |
A |
2: 164,735,536 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Hcn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00945:Hcn2
|
APN |
10 |
79,569,637 (GRCm39) |
nonsense |
probably null |
|
|
IGL01339:Hcn2
|
APN |
10 |
79,564,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02183:Hcn2
|
APN |
10 |
79,560,647 (GRCm39) |
critical splice donor site |
probably null |
|
|
asombrarse
|
UTSW |
10 |
79,560,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
curveball
|
UTSW |
10 |
79,560,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
curveball2
|
UTSW |
10 |
79,569,607 (GRCm39) |
nonsense |
probably null |
|
|
mire
|
UTSW |
10 |
79,564,947 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0269:Hcn2
|
UTSW |
10 |
79,570,075 (GRCm39) |
unclassified |
probably benign |
|
|
R0671:Hcn2
|
UTSW |
10 |
79,570,066 (GRCm39) |
splice site |
probably null |
|
|
R1879:Hcn2
|
UTSW |
10 |
79,562,023 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1913:Hcn2
|
UTSW |
10 |
79,566,777 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4051:Hcn2
|
UTSW |
10 |
79,569,521 (GRCm39) |
splice site |
probably null |
|
|
R4052:Hcn2
|
UTSW |
10 |
79,569,521 (GRCm39) |
splice site |
probably null |
|
|
R4328:Hcn2
|
UTSW |
10 |
79,560,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4507:Hcn2
|
UTSW |
10 |
79,560,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4518:Hcn2
|
UTSW |
10 |
79,560,536 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4578:Hcn2
|
UTSW |
10 |
79,560,282 (GRCm39) |
splice site |
probably null |
|
|
R5334:Hcn2
|
UTSW |
10 |
79,562,125 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5788:Hcn2
|
UTSW |
10 |
79,552,945 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6131:Hcn2
|
UTSW |
10 |
79,569,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6457:Hcn2
|
UTSW |
10 |
79,569,607 (GRCm39) |
nonsense |
probably null |
|
|
R6547:Hcn2
|
UTSW |
10 |
79,552,986 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6851:Hcn2
|
UTSW |
10 |
79,564,947 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7276:Hcn2
|
UTSW |
10 |
79,564,934 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7706:Hcn2
|
UTSW |
10 |
79,570,017 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7893:Hcn2
|
UTSW |
10 |
79,560,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Hcn2
|
UTSW |
10 |
79,560,619 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9333:Hcn2
|
UTSW |
10 |
79,561,991 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9527:Hcn2
|
UTSW |
10 |
79,570,706 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9594:Hcn2
|
UTSW |
10 |
79,560,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9602:Hcn2
|
UTSW |
10 |
79,562,128 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9604:Hcn2
|
UTSW |
10 |
79,564,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Hcn2
|
UTSW |
10 |
79,569,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGGCTGTGTAAAGTGTG -3'
(R):5'- CACCTACTGCTGGGTTTACAC -3'
Sequencing Primer
(F):5'- CAGGCTGTGTAAAGTGTGTGTCTC -3'
(R):5'- TTTACACCAGCTGGCCAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation