Incidental Mutation 'R4507:Hcn2'
| ID |
332060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hcn2
|
| Ensembl Gene |
ENSMUSG00000020331 |
| Gene Name |
hyperpolarization-activated, cyclic nucleotide-gated K+ 2 |
| Synonyms |
HAC1, trls |
| MMRRC Submission |
041756-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4507 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79552468-79571942 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79560620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 317
(I317N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020581]
[ENSMUST00000099513]
|
| AlphaFold |
O88703 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020581
AA Change: I317N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331
AA Change: I317N
| 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 |
probably damaging
Transcript: ENSMUST00000099513
AA Change: I317N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331
AA Change: I317N
| 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 |
|
| Meta Mutation Damage Score |
0.9547 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (41/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,747,601 (GRCm39) |
Y83C |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,953,851 (GRCm39) |
I863N |
probably benign |
Het |
| Abr |
A |
G |
11: 76,342,683 (GRCm39) |
I608T |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,820,565 (GRCm39) |
Y485C |
probably damaging |
Het |
| Akap5 |
A |
G |
12: 76,374,681 (GRCm39) |
K38E |
possibly damaging |
Het |
| Bhlhe22 |
T |
C |
3: 18,109,123 (GRCm39) |
S58P |
probably benign |
Het |
| Bmp3 |
A |
T |
5: 99,027,633 (GRCm39) |
I418L |
probably damaging |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,447,087 (GRCm39) |
|
probably null |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Clic1 |
A |
G |
17: 35,271,761 (GRCm39) |
T52A |
probably benign |
Het |
| Dnah7c |
C |
T |
1: 46,805,771 (GRCm39) |
R3407C |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,759,177 (GRCm39) |
|
probably null |
Het |
| Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
| Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
| Folh1 |
T |
C |
7: 86,406,216 (GRCm39) |
T286A |
probably benign |
Het |
| H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,837,276 (GRCm39) |
L760I |
probably damaging |
Het |
| Hoxc10 |
A |
T |
15: 102,875,387 (GRCm39) |
Y32F |
probably damaging |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Mdh1 |
C |
T |
11: 21,508,470 (GRCm39) |
V291M |
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,279,415 (GRCm39) |
T963A |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,774,065 (GRCm39) |
F1305L |
probably benign |
Het |
| Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
| Or8b9 |
T |
C |
9: 37,766,201 (GRCm39) |
F29S |
possibly damaging |
Het |
| Parp11 |
A |
G |
6: 127,451,246 (GRCm39) |
R99G |
probably damaging |
Het |
| Phactr1 |
C |
A |
13: 43,250,270 (GRCm39) |
T522N |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,726,014 (GRCm39) |
T1423A |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,195,168 (GRCm39) |
I1253V |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,106,925 (GRCm39) |
M329T |
probably benign |
Het |
| Srrm4 |
T |
C |
5: 116,584,612 (GRCm39) |
Y486C |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Tec |
T |
C |
5: 72,917,701 (GRCm39) |
D506G |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,969,833 (GRCm39) |
I316V |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,013,786 (GRCm39) |
F952I |
probably damaging |
Het |
| Vat1l |
T |
C |
8: 114,932,556 (GRCm39) |
L34P |
probably benign |
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 |
|
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 |
|
R8208:Hcn2
|
UTSW |
10 |
79,566,778 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- GGACAACACGGAGATCATCC -3'
(R):5'- TGCCCTGTCCACAATCAAG -3'
Sequencing Primer
(F):5'- GATCATCCTGGACCCCGAGAAG -3'
(R):5'- TGTCCACAATCAAGGCCCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation