Incidental Mutation 'IGL01519:Hrh1'
| ID |
89409 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hrh1
|
| Ensembl Gene |
ENSMUSG00000053004 |
| Gene Name |
histamine receptor H1 |
| Synonyms |
Hir, Bphs |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01519
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
114374897-114459432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 114457262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 181
(E181A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088987]
[ENSMUST00000160212]
[ENSMUST00000160780]
[ENSMUST00000161220]
[ENSMUST00000161650]
|
| AlphaFold |
P70174 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088987
AA Change: E181A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000086383
Gene: ENSMUSG00000053004
AA Change: E181A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
38 |
228 |
2.4e-6 |
PFAM |
|
Pfam:7tm_1
|
44 |
469 |
1.1e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160212
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160780
AA Change: E181A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124320
Gene: ENSMUSG00000053004
AA Change: E181A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
38 |
228 |
2.4e-6 |
PFAM |
|
Pfam:7tm_1
|
44 |
469 |
3.3e-69 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161220
AA Change: E181A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124037
Gene: ENSMUSG00000053004
AA Change: E181A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
38 |
228 |
2.4e-6 |
PFAM |
|
Pfam:7tm_1
|
44 |
469 |
1.1e-72 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161650
AA Change: E181A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124460
Gene: ENSMUSG00000053004
AA Change: E181A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
38 |
228 |
2.4e-6 |
PFAM |
|
Pfam:7tm_1
|
44 |
469 |
1.1e-72 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. The protein encoded by this gene is an integral membrane protein and belongs to the G protein-coupled receptor superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. It has been associated with multiple processes, including memory and learning, circadian rhythm, and thermoregulation. It is also known to contribute to the pathophysiology of allergic diseases such as atopic dermatitis, asthma, anaphylaxis and allergic rhinitis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous null mutants show decrease in exploratory behavior, diurnal activity, aggression, anxiety, serotonin release, respiratory reaction to temperature and leptin response. Natural variants affect B. pertussis induced vasoactive amine sensitization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap17b |
T |
C |
X: 35,875,503 (GRCm39) |
D668G |
probably damaging |
Het |
| Btbd3 |
A |
G |
2: 138,121,697 (GRCm39) |
M127V |
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,518,575 (GRCm39) |
T462A |
possibly damaging |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Chd1 |
G |
A |
17: 17,598,831 (GRCm39) |
G98R |
probably damaging |
Het |
| Ckap2 |
G |
A |
8: 22,658,914 (GRCm39) |
R610C |
probably benign |
Het |
| Col18a1 |
C |
T |
10: 76,895,157 (GRCm39) |
R1168H |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,460,246 (GRCm39) |
T3515I |
probably benign |
Het |
| Dcn |
A |
G |
10: 97,319,385 (GRCm39) |
Q54R |
probably damaging |
Het |
| Dock11 |
A |
G |
X: 35,227,006 (GRCm39) |
I86V |
probably benign |
Het |
| Dram2 |
T |
A |
3: 106,478,945 (GRCm39) |
I179N |
possibly damaging |
Het |
| Fbn1 |
C |
T |
2: 125,158,939 (GRCm39) |
M2275I |
probably benign |
Het |
| Gga2 |
A |
G |
7: 121,601,411 (GRCm39) |
S231P |
probably damaging |
Het |
| Gk2 |
T |
A |
5: 97,603,646 (GRCm39) |
L397F |
probably damaging |
Het |
| Gm8122 |
T |
A |
14: 43,092,696 (GRCm39) |
I22L |
unknown |
Het |
| Golga4 |
A |
G |
9: 118,356,160 (GRCm39) |
E104G |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 55,753,698 (GRCm39) |
R699H |
probably damaging |
Het |
| Lsm8 |
T |
C |
6: 18,851,699 (GRCm39) |
F50S |
probably damaging |
Het |
| Or1f19 |
T |
A |
16: 3,410,398 (GRCm39) |
I46N |
probably damaging |
Het |
| Pard6g |
A |
G |
18: 80,123,071 (GRCm39) |
D35G |
probably benign |
Het |
| Plod2 |
G |
A |
9: 92,477,348 (GRCm39) |
V347I |
probably benign |
Het |
| Pramel51 |
T |
C |
12: 88,144,331 (GRCm39) |
R161G |
probably benign |
Het |
| Snx13 |
T |
C |
12: 35,188,471 (GRCm39) |
|
probably benign |
Het |
| Taf1 |
T |
A |
X: 100,606,412 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
A |
G |
7: 65,313,634 (GRCm39) |
Y351C |
probably damaging |
Het |
| Tenm4 |
C |
A |
7: 96,544,384 (GRCm39) |
D2133E |
probably damaging |
Het |
| Thap7 |
A |
C |
16: 17,346,609 (GRCm39) |
|
probably benign |
Het |
| Tpr |
T |
A |
1: 150,306,919 (GRCm39) |
S1505T |
probably benign |
Het |
| Trav9-2 |
C |
T |
14: 53,828,809 (GRCm39) |
R60W |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,708,692 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Hrh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00839:Hrh1
|
APN |
6 |
114,457,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01372:Hrh1
|
APN |
6 |
114,456,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01453:Hrh1
|
APN |
6 |
114,458,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02142:Hrh1
|
APN |
6 |
114,457,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02352:Hrh1
|
APN |
6 |
114,457,404 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02359:Hrh1
|
APN |
6 |
114,457,404 (GRCm39) |
missense |
probably benign |
0.43 |
|
FR4737:Hrh1
|
UTSW |
6 |
114,458,084 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0335:Hrh1
|
UTSW |
6 |
114,457,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0635:Hrh1
|
UTSW |
6 |
114,457,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1493:Hrh1
|
UTSW |
6 |
114,457,838 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2283:Hrh1
|
UTSW |
6 |
114,457,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3870:Hrh1
|
UTSW |
6 |
114,457,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4124:Hrh1
|
UTSW |
6 |
114,457,580 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4254:Hrh1
|
UTSW |
6 |
114,456,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4764:Hrh1
|
UTSW |
6 |
114,457,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5270:Hrh1
|
UTSW |
6 |
114,458,179 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6189:Hrh1
|
UTSW |
6 |
114,456,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6482:Hrh1
|
UTSW |
6 |
114,457,724 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7495:Hrh1
|
UTSW |
6 |
114,457,634 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7683:Hrh1
|
UTSW |
6 |
114,456,748 (GRCm39) |
missense |
probably benign |
|
|
R8041:Hrh1
|
UTSW |
6 |
114,456,878 (GRCm39) |
missense |
not run |
|
|
R8131:Hrh1
|
UTSW |
6 |
114,457,253 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8354:Hrh1
|
UTSW |
6 |
114,457,814 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8454:Hrh1
|
UTSW |
6 |
114,457,814 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8502:Hrh1
|
UTSW |
6 |
114,457,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8558:Hrh1
|
UTSW |
6 |
114,457,564 (GRCm39) |
missense |
probably benign |
|
|
R9600:Hrh1
|
UTSW |
6 |
114,457,453 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9703:Hrh1
|
UTSW |
6 |
114,457,979 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9774:Hrh1
|
UTSW |
6 |
114,457,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-12-03 |
Incidental Mutation