Incidental Mutation 'R9738:Hrh4'
| ID |
731739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hrh4
|
| Ensembl Gene |
ENSMUSG00000037346 |
| Gene Name |
histamine receptor H4 |
| Synonyms |
H4R |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R9738 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
13140047-13155939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13155270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 270
(N270D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041676]
|
| AlphaFold |
Q91ZY2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041676
AA Change: N270D
PolyPhen 2
Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000041061
Gene: ENSMUSG00000037346
AA Change: N270D
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12b |
A |
G |
12: 70,216,039 (GRCm39) |
T199A |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,737,121 (GRCm39) |
F2921S |
unknown |
Het |
| Atg12 |
A |
G |
18: 46,874,505 (GRCm39) |
S37P |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cdh5 |
A |
G |
8: 104,863,329 (GRCm39) |
D413G |
probably damaging |
Het |
| Cdk8 |
A |
G |
5: 146,236,539 (GRCm39) |
N318S |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,590,665 (GRCm39) |
L68* |
probably null |
Het |
| Cntnap2 |
CCACATAAACAACACACA |
CCACA |
6: 45,992,373 (GRCm39) |
|
probably null |
Het |
| Cpne9 |
A |
C |
6: 113,267,401 (GRCm39) |
N194T |
probably damaging |
Het |
| Cpxm1 |
A |
G |
2: 130,235,302 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
T |
C |
8: 70,840,205 (GRCm39) |
N556S |
probably damaging |
Het |
| Gm12888 |
A |
T |
4: 121,175,520 (GRCm39) |
C87* |
probably null |
Het |
| Hivep2 |
A |
G |
10: 14,019,583 (GRCm39) |
E2118G |
probably damaging |
Het |
| Iqsec1 |
G |
A |
6: 90,671,672 (GRCm39) |
Q77* |
probably null |
Het |
| Lars1 |
A |
G |
18: 42,350,649 (GRCm39) |
W887R |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,527 (GRCm39) |
Y706H |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,222,524 (GRCm39) |
F170I |
probably damaging |
Het |
| Msrb1 |
T |
C |
17: 24,958,535 (GRCm39) |
S40P |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,189,759 (GRCm39) |
I1096V |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,455,963 (GRCm39) |
Y116C |
probably damaging |
Het |
| Ndrg2 |
T |
C |
14: 52,148,238 (GRCm39) |
H41R |
possibly damaging |
Het |
| Or5an11 |
A |
G |
19: 12,245,869 (GRCm39) |
T92A |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,934,526 (GRCm39) |
T603A |
possibly damaging |
Het |
| Sugp1 |
T |
A |
8: 70,505,256 (GRCm39) |
H74Q |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,986,380 (GRCm39) |
T243A |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,390 (GRCm39) |
E358G |
possibly damaging |
Het |
| Unc5d |
T |
A |
8: 29,214,332 (GRCm39) |
H410L |
probably benign |
Het |
| Usp1 |
T |
C |
4: 98,819,672 (GRCm39) |
V378A |
probably benign |
Het |
| Wdtc1 |
A |
G |
4: 133,022,604 (GRCm39) |
S581P |
probably damaging |
Het |
| Zfp947 |
A |
G |
17: 22,365,341 (GRCm39) |
V111A |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGCCATGCTGGATTCTC -3'
(R):5'- AGGCAATGCTGTACCACACC -3'
Sequencing Primer
(F):5'- AGCCATGCTGGATTCTCCACTAC -3'
(R):5'- AATGCTGTACCACACCGATTTGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation