Incidental Mutation 'R9333:Hcn2'
| ID |
711171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hcn2
|
| Ensembl Gene |
ENSMUSG00000020331 |
| Gene Name |
hyperpolarization-activated, cyclic nucleotide-gated K+ 2 |
| Synonyms |
HAC1, trls |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9333 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79552468-79571942 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79561991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 329
(M329K)
|
| 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: M329K
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331
AA Change: M329K
| 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: M329K
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331
AA Change: M329K
| 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: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
G |
T |
4: 123,754,416 (GRCm39) |
G110V |
probably benign |
Het |
| Abraxas1 |
T |
C |
5: 100,959,939 (GRCm39) |
S138G |
probably damaging |
Het |
| Aldoart1 |
C |
T |
4: 72,770,367 (GRCm39) |
R147H |
probably benign |
Het |
| Arfgef1 |
C |
A |
1: 10,222,037 (GRCm39) |
E1556* |
probably null |
Het |
| Arhgap39 |
C |
T |
15: 76,619,325 (GRCm39) |
R753H |
probably damaging |
Het |
| Asb2 |
G |
A |
12: 103,311,955 (GRCm39) |
Q56* |
probably null |
Het |
| Atp8b3 |
T |
C |
10: 80,360,180 (GRCm39) |
I964V |
probably benign |
Het |
| Baiap3 |
C |
A |
17: 25,467,676 (GRCm39) |
R338L |
possibly damaging |
Het |
| Clcn4 |
T |
A |
7: 7,292,192 (GRCm39) |
M540L |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,776,984 (GRCm39) |
H12R |
probably benign |
Het |
| D6Wsu163e |
A |
G |
6: 126,952,096 (GRCm39) |
Y530C |
probably damaging |
Het |
| Dolpp1 |
T |
A |
2: 30,287,140 (GRCm39) |
F191I |
probably damaging |
Het |
| Fam217a |
T |
C |
13: 35,100,876 (GRCm39) |
T94A |
probably benign |
Het |
| Fanci |
T |
C |
7: 79,067,594 (GRCm39) |
W347R |
possibly damaging |
Het |
| Fbxo39 |
A |
T |
11: 72,208,349 (GRCm39) |
N234Y |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,998,502 (GRCm39) |
S319P |
probably benign |
Het |
| Gm14403 |
A |
G |
2: 177,200,919 (GRCm39) |
N46S |
probably benign |
Het |
| Grm2 |
C |
A |
9: 106,525,416 (GRCm39) |
R433L |
possibly damaging |
Het |
| Gtf2i |
C |
T |
5: 134,271,840 (GRCm39) |
D855N |
probably benign |
Het |
| Hsd3b3 |
T |
C |
3: 98,649,216 (GRCm39) |
D369G |
probably benign |
Het |
| Kctd12 |
T |
C |
14: 103,219,054 (GRCm39) |
K275E |
probably damaging |
Het |
| Klra4 |
T |
A |
6: 130,021,080 (GRCm39) |
K238N |
probably damaging |
Het |
| Kremen2 |
T |
A |
17: 23,962,775 (GRCm39) |
T104S |
probably damaging |
Het |
| Lmf2 |
G |
A |
15: 89,239,577 (GRCm39) |
L26F |
probably damaging |
Het |
| Mageb3 |
A |
T |
2: 121,784,973 (GRCm39) |
V243E |
probably damaging |
Het |
| Mfsd10 |
A |
G |
5: 34,792,427 (GRCm39) |
V258A |
probably damaging |
Het |
| Myh10 |
A |
C |
11: 68,680,980 (GRCm39) |
Q1007P |
probably benign |
Het |
| Ndufaf5 |
A |
G |
2: 140,035,513 (GRCm39) |
E243G |
probably benign |
Het |
| Or2ag16 |
T |
C |
7: 106,351,782 (GRCm39) |
D271G |
probably damaging |
Het |
| Orm3 |
T |
C |
4: 63,274,528 (GRCm39) |
I31T |
probably damaging |
Het |
| Pgm2 |
C |
A |
5: 64,263,100 (GRCm39) |
T249K |
probably benign |
Het |
| Prcp |
T |
C |
7: 92,577,894 (GRCm39) |
Y388H |
probably damaging |
Het |
| Prmt3 |
T |
G |
7: 49,456,308 (GRCm39) |
I306M |
probably damaging |
Het |
| Rag2 |
A |
T |
2: 101,460,752 (GRCm39) |
D354V |
probably benign |
Het |
| Reep1 |
A |
G |
6: 71,772,198 (GRCm39) |
D162G |
probably damaging |
Het |
| Rnpep |
A |
T |
1: 135,191,862 (GRCm39) |
W575R |
probably damaging |
Het |
| Rpl28 |
T |
C |
7: 4,796,079 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
C |
7: 28,774,214 (GRCm39) |
|
probably null |
Het |
| Spg11 |
G |
A |
2: 121,932,244 (GRCm39) |
R533C |
probably damaging |
Het |
| Tcf7l2 |
C |
A |
19: 55,919,928 (GRCm39) |
S487* |
probably null |
Het |
| Usp39 |
T |
C |
6: 72,314,710 (GRCm39) |
N232S |
probably benign |
Het |
| Vmn2r26 |
C |
T |
6: 124,003,009 (GRCm39) |
P140S |
probably benign |
Het |
| Vmn2r34 |
C |
T |
7: 7,675,367 (GRCm39) |
V674I |
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 |
|
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 |
|
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 |
|
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'- GTTATCCGAACGGGTCATGG -3'
(R):5'- CTTTGCTGCCTGTAGAGCAC -3'
Sequencing Primer
(F):5'- CCGAACGGGTCATGGGTGAG -3'
(R):5'- TGTAGAGCACCTTGGGCAGTC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation