Incidental Mutation 'IGL01765:Hrh4'
| ID |
153313 |
| 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 # |
IGL01765
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
13140047-13155939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 13140252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 49
(R49Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041676]
|
| AlphaFold |
Q91ZY2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041676
AA Change: R49Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041061
Gene: ENSMUSG00000037346
AA Change: R49Q
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
T |
17: 43,030,426 (GRCm39) |
M11K |
probably benign |
Het |
| Agap2 |
T |
C |
10: 126,919,104 (GRCm39) |
V442A |
unknown |
Het |
| Cdh20 |
C |
T |
1: 109,988,836 (GRCm39) |
T246I |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,854,446 (GRCm39) |
D2G |
possibly damaging |
Het |
| Dicer1 |
G |
A |
12: 104,672,999 (GRCm39) |
R811C |
probably damaging |
Het |
| Drosha |
C |
A |
15: 12,902,766 (GRCm39) |
A1012E |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,730,082 (GRCm39) |
I896T |
probably damaging |
Het |
| Fastkd5 |
T |
C |
2: 130,457,654 (GRCm39) |
Y312C |
possibly damaging |
Het |
| Flt3 |
A |
G |
5: 147,294,788 (GRCm39) |
F428L |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,433,108 (GRCm39) |
T1408A |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,400,913 (GRCm39) |
E132G |
probably damaging |
Het |
| Ltf |
T |
C |
9: 110,851,085 (GRCm39) |
V99A |
possibly damaging |
Het |
| Mettl13 |
A |
T |
1: 162,366,522 (GRCm39) |
D452E |
probably benign |
Het |
| Ndufa7 |
G |
T |
17: 34,048,786 (GRCm39) |
E83* |
probably null |
Het |
| Nmrk1 |
C |
T |
19: 18,616,902 (GRCm39) |
T17M |
probably damaging |
Het |
| Ntsr1 |
A |
G |
2: 180,180,510 (GRCm39) |
E272G |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,006,610 (GRCm39) |
K1184R |
possibly damaging |
Het |
| Or10z1 |
T |
G |
1: 174,077,703 (GRCm39) |
K263N |
probably damaging |
Het |
| Or11j4 |
A |
T |
14: 50,630,291 (GRCm39) |
Q26L |
probably benign |
Het |
| Or1e21 |
A |
C |
11: 73,344,303 (GRCm39) |
L245R |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or4a68 |
C |
T |
2: 89,270,144 (GRCm39) |
V160I |
probably benign |
Het |
| Or7e170 |
A |
T |
9: 19,795,247 (GRCm39) |
M118K |
possibly damaging |
Het |
| Pcdhb10 |
A |
G |
18: 37,547,072 (GRCm39) |
K716R |
probably benign |
Het |
| Phldb3 |
A |
G |
7: 24,316,800 (GRCm39) |
D267G |
possibly damaging |
Het |
| Plcb2 |
T |
A |
2: 118,540,749 (GRCm39) |
|
probably benign |
Het |
| Pramel17 |
T |
C |
4: 101,695,049 (GRCm39) |
I87M |
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,974,170 (GRCm39) |
F219L |
probably damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,599,177 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,704,261 (GRCm39) |
D228E |
probably benign |
Het |
| Rnf213 |
A |
T |
11: 119,327,178 (GRCm39) |
M1723L |
probably benign |
Het |
| Sc5d |
A |
G |
9: 42,167,464 (GRCm39) |
F128S |
probably damaging |
Het |
| Sco1 |
T |
C |
11: 66,944,616 (GRCm39) |
S80P |
probably damaging |
Het |
| Supt16 |
C |
T |
14: 52,417,680 (GRCm39) |
R278H |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,112,985 (GRCm39) |
I986T |
probably benign |
Het |
| Trio |
A |
G |
15: 27,764,112 (GRCm39) |
V860A |
possibly damaging |
Het |
| Uck1 |
A |
G |
2: 32,148,688 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,552,788 (GRCm39) |
T823A |
probably benign |
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 |
|
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 |
|
|
IGL03277:Hrh4
|
APN |
18 |
13,148,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-02-04 |
Incidental Mutation