Incidental Mutation 'R2918:Hcn3'
| ID |
255364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hcn3
|
| Ensembl Gene |
ENSMUSG00000028051 |
| Gene Name |
hyperpolarization-activated, cyclic nucleotide-gated K+ 3 |
| Synonyms |
Hac3 |
| MMRRC Submission |
040503-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
R2918 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89054082-89067538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89054920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 776
(S776P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029686]
[ENSMUST00000047111]
[ENSMUST00000107482]
|
| AlphaFold |
O88705 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029686
AA Change: S776P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051
AA Change: S776P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_N
|
48 |
91 |
1.3e-22 |
PFAM |
|
Pfam:Ion_trans
|
92 |
357 |
3.7e-25 |
PFAM |
|
low complexity region
|
358 |
369 |
N/A |
INTRINSIC |
|
Blast:cNMP
|
370 |
402 |
7e-14 |
BLAST |
|
cNMP
|
427 |
540 |
2.32e-20 |
SMART |
|
Blast:cNMP
|
548 |
588 |
2e-17 |
BLAST |
|
low complexity region
|
636 |
656 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
717 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047111
|
| SMART Domains |
Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
|
Pfam:PK
|
85 |
438 |
6.9e-165 |
PFAM |
|
Pfam:PK_C
|
453 |
571 |
3.6e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107482
|
| SMART Domains |
Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PK
|
54 |
407 |
3.1e-163 |
PFAM |
|
Pfam:PK_C
|
421 |
541 |
4.9e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132156
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133368
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ventricular action potential waveform. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
A |
G |
2: 22,989,579 (GRCm39) |
N401D |
probably benign |
Het |
| Agtpbp1 |
T |
A |
13: 59,644,829 (GRCm39) |
D679V |
possibly damaging |
Het |
| Akap8 |
A |
G |
17: 32,524,622 (GRCm39) |
V558A |
probably benign |
Het |
| Arrdc2 |
C |
T |
8: 71,290,171 (GRCm39) |
R170Q |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,189,027 (GRCm39) |
H94Q |
probably damaging |
Het |
| Atg4a-ps |
G |
A |
3: 103,552,837 (GRCm39) |
A168V |
probably damaging |
Het |
| Crb2 |
G |
T |
2: 37,673,395 (GRCm39) |
R97L |
probably benign |
Het |
| Dnaja1 |
C |
T |
4: 40,724,052 (GRCm39) |
A71V |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| G6pd2 |
A |
G |
5: 61,966,869 (GRCm39) |
R215G |
probably damaging |
Het |
| Ift140 |
C |
A |
17: 25,254,805 (GRCm39) |
N159K |
possibly damaging |
Het |
| Mafa |
A |
G |
15: 75,619,147 (GRCm39) |
S209P |
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,051,683 (GRCm39) |
|
probably null |
Het |
| Myh14 |
T |
C |
7: 44,265,687 (GRCm39) |
D1564G |
possibly damaging |
Het |
| Ncor2 |
T |
A |
5: 125,102,824 (GRCm39) |
I1792F |
probably damaging |
Het |
| Nod2 |
T |
C |
8: 89,379,519 (GRCm39) |
F7L |
probably benign |
Het |
| Odad2 |
G |
A |
18: 7,222,625 (GRCm39) |
S548L |
probably benign |
Het |
| Or10d5 |
A |
G |
9: 39,861,660 (GRCm39) |
S136P |
probably benign |
Het |
| Or1m1 |
T |
A |
9: 18,666,775 (GRCm39) |
D52V |
probably damaging |
Het |
| Or2aa1 |
T |
C |
11: 59,480,265 (GRCm39) |
T217A |
probably benign |
Het |
| Pak3 |
T |
C |
X: 142,547,972 (GRCm39) |
V318A |
probably damaging |
Het |
| Pik3ap1 |
T |
C |
19: 41,290,970 (GRCm39) |
T521A |
probably benign |
Het |
| Pkdcc |
G |
C |
17: 83,523,378 (GRCm39) |
A162P |
probably benign |
Het |
| Rassf4 |
A |
G |
6: 116,618,701 (GRCm39) |
V194A |
probably damaging |
Het |
| Scp2d1 |
T |
A |
2: 144,665,868 (GRCm39) |
I69N |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,905,782 (GRCm39) |
S1288P |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,645,532 (GRCm39) |
S2019P |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,021,004 (GRCm39) |
L630* |
probably null |
Het |
| Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
| Trpc1 |
C |
T |
9: 95,605,182 (GRCm39) |
R159H |
probably damaging |
Het |
| Zbtb14 |
C |
T |
17: 69,695,214 (GRCm39) |
P304L |
probably damaging |
Het |
|
| Other mutations in Hcn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01621:Hcn3
|
APN |
3 |
89,055,030 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02285:Hcn3
|
APN |
3 |
89,060,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02557:Hcn3
|
APN |
3 |
89,057,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Hcn3
|
UTSW |
3 |
89,067,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0189:Hcn3
|
UTSW |
3 |
89,056,107 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0442:Hcn3
|
UTSW |
3 |
89,058,847 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0454:Hcn3
|
UTSW |
3 |
89,060,201 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0732:Hcn3
|
UTSW |
3 |
89,056,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Hcn3
|
UTSW |
3 |
89,055,426 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1900:Hcn3
|
UTSW |
3 |
89,055,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2277:Hcn3
|
UTSW |
3 |
89,055,168 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2279:Hcn3
|
UTSW |
3 |
89,055,168 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2331:Hcn3
|
UTSW |
3 |
89,055,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2916:Hcn3
|
UTSW |
3 |
89,054,920 (GRCm39) |
missense |
probably benign |
|
|
R4604:Hcn3
|
UTSW |
3 |
89,057,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Hcn3
|
UTSW |
3 |
89,057,370 (GRCm39) |
splice site |
probably null |
|
|
R5095:Hcn3
|
UTSW |
3 |
89,057,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5776:Hcn3
|
UTSW |
3 |
89,055,412 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5984:Hcn3
|
UTSW |
3 |
89,055,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6389:Hcn3
|
UTSW |
3 |
89,058,240 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6736:Hcn3
|
UTSW |
3 |
89,059,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:Hcn3
|
UTSW |
3 |
89,067,152 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6909:Hcn3
|
UTSW |
3 |
89,059,936 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7549:Hcn3
|
UTSW |
3 |
89,057,307 (GRCm39) |
missense |
probably null |
0.51 |
|
R9090:Hcn3
|
UTSW |
3 |
89,057,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9271:Hcn3
|
UTSW |
3 |
89,057,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATTAGGATTAGCAGGCTGC -3'
(R):5'- TCCCAGGTATCTCTGTTGGG -3'
Sequencing Primer
(F):5'- CAGCTGCTTTGAGCTGAGGAC -3'
(R):5'- AGGTATCTCTGTTGGGCCCTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation