Incidental Mutation 'IGL03277:Hrh4'
ID |
415436 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hrh4
|
Ensembl Gene |
ENSMUSG00000037346 |
Gene Name |
histamine receptor H4 |
Synonyms |
H4R |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
IGL03277
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
13140047-13155939 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13148940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 101
(S101P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041676]
|
AlphaFold |
Q91ZY2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041676
AA Change: S101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041061 Gene: ENSMUSG00000037346 AA Change: S101P
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
26 |
211 |
1e-5 |
PFAM |
Pfam:7tm_1
|
32 |
360 |
8.1e-58 |
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 a family of histamine receptors, which are a subset of the G-protein coupled receptor superfamily. This gene encodes a histamine receptor that is predominantly expressed in haematopoietic cells. The protein is thought to play a role in inflammation and allergy reponses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] PHENOTYPE: Mice homozygous for a null allele exhibit decreased allergic response to airway inflammation and decreased Th2 responses. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amt |
A |
G |
9: 108,178,418 (GRCm39) |
T342A |
probably benign |
Het |
Atosa |
G |
A |
9: 74,916,514 (GRCm39) |
R371Q |
probably damaging |
Het |
B3glct |
T |
C |
5: 149,650,299 (GRCm39) |
L134P |
probably damaging |
Het |
Bms1 |
A |
T |
6: 118,382,083 (GRCm39) |
M485K |
probably benign |
Het |
Chd6 |
T |
C |
2: 160,824,981 (GRCm39) |
N1226S |
probably null |
Het |
Cpne2 |
T |
C |
8: 95,275,000 (GRCm39) |
Y3H |
probably benign |
Het |
Dmxl2 |
A |
G |
9: 54,311,504 (GRCm39) |
V1739A |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,669,481 (GRCm39) |
T543S |
probably benign |
Het |
Dock11 |
T |
G |
X: 35,277,603 (GRCm39) |
V1000G |
probably benign |
Het |
Ednrb |
T |
A |
14: 104,080,735 (GRCm39) |
N60Y |
probably benign |
Het |
Eif3d |
A |
G |
15: 77,843,849 (GRCm39) |
M499T |
possibly damaging |
Het |
Elmod1 |
G |
A |
9: 53,833,272 (GRCm39) |
L178F |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,424,642 (GRCm39) |
V684A |
possibly damaging |
Het |
Mtx2 |
A |
G |
2: 74,698,748 (GRCm39) |
T124A |
probably damaging |
Het |
Nat3 |
T |
A |
8: 68,000,341 (GRCm39) |
H73Q |
probably benign |
Het |
Ndst2 |
A |
G |
14: 20,780,234 (GRCm39) |
L2P |
possibly damaging |
Het |
Nipsnap3a |
G |
T |
4: 52,997,219 (GRCm39) |
A162S |
probably benign |
Het |
Or2a57 |
T |
G |
6: 43,212,876 (GRCm39) |
C111W |
probably damaging |
Het |
Or5m5 |
T |
C |
2: 85,814,517 (GRCm39) |
I111T |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,714,673 (GRCm39) |
D183G |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,328,887 (GRCm39) |
E454G |
probably benign |
Het |
Prom1 |
G |
A |
5: 44,190,313 (GRCm39) |
Q364* |
probably null |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Sema5b |
A |
G |
16: 35,471,682 (GRCm39) |
D425G |
probably damaging |
Het |
Slc16a7 |
A |
T |
10: 125,066,560 (GRCm39) |
C360S |
probably benign |
Het |
Slc38a7 |
T |
A |
8: 96,575,104 (GRCm39) |
I59F |
probably damaging |
Het |
Slc5a6 |
A |
G |
5: 31,195,372 (GRCm39) |
C449R |
possibly damaging |
Het |
Slc9b1 |
T |
C |
3: 135,096,269 (GRCm39) |
Y357H |
possibly damaging |
Het |
Snx17 |
A |
T |
5: 31,353,084 (GRCm39) |
|
probably benign |
Het |
Stk32b |
A |
C |
5: 37,786,320 (GRCm39) |
M48R |
probably damaging |
Het |
Tspan9 |
A |
G |
6: 127,944,038 (GRCm39) |
|
probably null |
Het |
Tst |
A |
T |
15: 78,289,521 (GRCm39) |
N171K |
probably damaging |
Het |
Vmn1r180 |
T |
A |
7: 23,652,710 (GRCm39) |
I291N |
probably damaging |
Het |
Vmn2r32 |
T |
A |
7: 7,477,251 (GRCm39) |
D380V |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,790,861 (GRCm39) |
T2189A |
probably benign |
Het |
Zbtb20 |
A |
G |
16: 43,438,800 (GRCm39) |
N640S |
possibly damaging |
Het |
Zfp142 |
A |
G |
1: 74,610,193 (GRCm39) |
S1098P |
probably damaging |
Het |
|
Other mutations in Hrh4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01530:Hrh4
|
APN |
18 |
13,149,004 (GRCm39) |
splice site |
probably benign |
|
IGL01544:Hrh4
|
APN |
18 |
13,148,950 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01765:Hrh4
|
APN |
18 |
13,140,252 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02117:Hrh4
|
APN |
18 |
13,155,477 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02559:Hrh4
|
APN |
18 |
13,140,301 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03281:Hrh4
|
APN |
18 |
13,155,526 (GRCm39) |
missense |
possibly damaging |
0.94 |
BB009:Hrh4
|
UTSW |
18 |
13,148,869 (GRCm39) |
nonsense |
probably null |
|
BB019:Hrh4
|
UTSW |
18 |
13,148,869 (GRCm39) |
nonsense |
probably null |
|
R0267:Hrh4
|
UTSW |
18 |
13,155,455 (GRCm39) |
nonsense |
probably null |
|
R0329:Hrh4
|
UTSW |
18 |
13,140,302 (GRCm39) |
splice site |
probably benign |
|
R1601:Hrh4
|
UTSW |
18 |
13,148,955 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1827:Hrh4
|
UTSW |
18 |
13,155,261 (GRCm39) |
missense |
probably damaging |
0.97 |
R2964:Hrh4
|
UTSW |
18 |
13,155,426 (GRCm39) |
missense |
probably benign |
0.43 |
R3843:Hrh4
|
UTSW |
18 |
13,155,343 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5262:Hrh4
|
UTSW |
18 |
13,148,870 (GRCm39) |
missense |
probably damaging |
0.99 |
R5325:Hrh4
|
UTSW |
18 |
13,155,054 (GRCm39) |
nonsense |
probably null |
|
R5473:Hrh4
|
UTSW |
18 |
13,154,985 (GRCm39) |
missense |
probably benign |
0.34 |
R6500:Hrh4
|
UTSW |
18 |
13,155,525 (GRCm39) |
missense |
probably damaging |
0.98 |
R6622:Hrh4
|
UTSW |
18 |
13,155,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R7574:Hrh4
|
UTSW |
18 |
13,154,970 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7877:Hrh4
|
UTSW |
18 |
13,155,582 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7932:Hrh4
|
UTSW |
18 |
13,148,869 (GRCm39) |
nonsense |
probably null |
|
R8197:Hrh4
|
UTSW |
18 |
13,154,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R8278:Hrh4
|
UTSW |
18 |
13,140,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R8549:Hrh4
|
UTSW |
18 |
13,155,115 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8873:Hrh4
|
UTSW |
18 |
13,140,195 (GRCm39) |
missense |
|
|
R9615:Hrh4
|
UTSW |
18 |
13,154,944 (GRCm39) |
missense |
probably benign |
0.41 |
R9738:Hrh4
|
UTSW |
18 |
13,155,270 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Posted On |
2016-08-02 |