Incidental Mutation 'R3843:Hrh4'
| ID |
277262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hrh4
|
| Ensembl Gene |
ENSMUSG00000037346 |
| Gene Name |
histamine receptor H4 |
| Synonyms |
H4R |
| MMRRC Submission |
040783-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R3843 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
13140047-13155939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13155343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 294
(Y294C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041676]
|
| AlphaFold |
Q91ZY2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041676
AA Change: Y294C
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041061
Gene: ENSMUSG00000037346
AA Change: Y294C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
26 |
211 |
1e-5 |
PFAM |
|
Pfam:7tm_1
|
32 |
360 |
8.1e-58 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (35/35) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,092,495 (GRCm39) |
Y168* |
probably null |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Arid2 |
C |
T |
15: 96,249,721 (GRCm39) |
T145I |
possibly damaging |
Het |
| Ccdc8 |
T |
C |
7: 16,729,039 (GRCm39) |
V176A |
probably damaging |
Het |
| Cdhr1 |
G |
T |
14: 36,806,884 (GRCm39) |
F440L |
probably benign |
Het |
| Ckap2 |
A |
T |
8: 22,665,774 (GRCm39) |
N424K |
probably damaging |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| Dennd1b |
C |
A |
1: 138,981,092 (GRCm39) |
P102Q |
probably damaging |
Het |
| E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
| Eef1akmt2 |
C |
T |
7: 132,433,305 (GRCm39) |
V134I |
probably damaging |
Het |
| Elp3 |
A |
T |
14: 65,802,932 (GRCm39) |
|
probably null |
Het |
| Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
C |
13: 12,450,002 (GRCm39) |
Y1999H |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,397,936 (GRCm39) |
W288L |
possibly damaging |
Het |
| Hnf4g |
G |
A |
3: 3,716,362 (GRCm39) |
C262Y |
probably benign |
Het |
| Igkv5-39 |
C |
A |
6: 69,877,526 (GRCm39) |
G77W |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,755,742 (GRCm39) |
L1952P |
probably damaging |
Het |
| Lgr4 |
C |
T |
2: 109,827,118 (GRCm39) |
|
probably benign |
Het |
| Nlrc3 |
G |
A |
16: 3,782,828 (GRCm39) |
R194W |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,941,112 (GRCm39) |
F547L |
probably damaging |
Het |
| Or5m3 |
A |
G |
2: 85,838,548 (GRCm39) |
I143V |
probably benign |
Het |
| Pdp1 |
T |
C |
4: 11,961,961 (GRCm39) |
K117E |
probably benign |
Het |
| Phtf2 |
G |
A |
5: 20,979,020 (GRCm39) |
A31V |
probably damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,886,553 (GRCm39) |
Y42* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,628,947 (GRCm39) |
C667S |
probably benign |
Het |
| Pnp2 |
T |
A |
14: 51,200,878 (GRCm39) |
L121Q |
probably null |
Het |
| Ppfia1 |
C |
T |
7: 144,058,707 (GRCm39) |
R698Q |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,104,587 (GRCm39) |
F275I |
probably benign |
Het |
| Slc50a1 |
A |
T |
3: 89,177,207 (GRCm39) |
I70N |
probably damaging |
Het |
| Sytl2 |
C |
G |
7: 90,009,367 (GRCm39) |
T123R |
possibly damaging |
Het |
| Tlk1 |
T |
A |
2: 70,579,671 (GRCm39) |
T214S |
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,346,114 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,344,914 (GRCm39) |
T335A |
probably benign |
Het |
| Zbtb47 |
T |
A |
9: 121,592,499 (GRCm39) |
V273E |
possibly 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCTTCCAGTGCTTCAGG -3'
(R):5'- AACGAATTGAACCATTGCAGC -3'
Sequencing Primer
(F):5'- GTGCTTCAGGACACTTACACAGAG -3'
(R):5'- TTGAACCATTGCAGCCAGAAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation