Incidental Mutation 'R2964:Hrh4'
ID |
255990 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hrh4
|
Ensembl Gene |
ENSMUSG00000037346 |
Gene Name |
histamine receptor H4 |
Synonyms |
H4R |
MMRRC Submission |
040520-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R2964 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
13140047-13155939 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13155426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 322
(C322R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041676]
|
AlphaFold |
Q91ZY2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041676
AA Change: C322R
PolyPhen 2
Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000041061 Gene: ENSMUSG00000037346 AA Change: C322R
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (43/43) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
C |
T |
7: 41,275,829 (GRCm39) |
R511* |
probably null |
Het |
Acox3 |
T |
C |
5: 35,762,611 (GRCm39) |
I495T |
possibly damaging |
Het |
Acsl3 |
A |
G |
1: 78,672,011 (GRCm39) |
S302G |
probably benign |
Het |
Ap1s1 |
T |
C |
5: 137,066,357 (GRCm39) |
D148G |
probably damaging |
Het |
Asprv1 |
T |
A |
6: 86,605,348 (GRCm39) |
C65S |
probably damaging |
Het |
Cdkal1 |
A |
G |
13: 29,628,018 (GRCm39) |
S39P |
unknown |
Het |
Chrna2 |
T |
C |
14: 66,386,817 (GRCm39) |
V321A |
possibly damaging |
Het |
Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
Col13a1 |
G |
A |
10: 61,797,110 (GRCm39) |
R106W |
probably damaging |
Het |
Cul9 |
A |
G |
17: 46,813,154 (GRCm39) |
V2355A |
probably damaging |
Het |
Cwh43 |
T |
C |
5: 73,565,679 (GRCm39) |
|
probably benign |
Het |
Dbi |
C |
T |
1: 120,047,846 (GRCm39) |
|
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,607,460 (GRCm39) |
|
probably null |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
Fstl3 |
T |
C |
10: 79,617,057 (GRCm39) |
V200A |
probably benign |
Het |
Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
Gsdma2 |
T |
C |
11: 98,548,085 (GRCm39) |
S184P |
probably damaging |
Het |
Gtf2ird1 |
T |
C |
5: 134,386,538 (GRCm39) |
|
probably null |
Het |
H2-T22 |
A |
G |
17: 36,351,537 (GRCm39) |
L231S |
probably damaging |
Het |
Ing1 |
T |
A |
8: 11,611,641 (GRCm39) |
S26R |
probably benign |
Het |
Kif3a |
A |
T |
11: 53,469,757 (GRCm39) |
I123F |
probably damaging |
Het |
Lrp6 |
T |
C |
6: 134,444,489 (GRCm39) |
E1127G |
probably damaging |
Het |
Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
Mdc1 |
A |
T |
17: 36,164,529 (GRCm39) |
Q1359L |
possibly damaging |
Het |
Mdga1 |
A |
T |
17: 30,071,442 (GRCm39) |
I393N |
probably damaging |
Het |
Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
Myo3a |
T |
C |
2: 22,345,067 (GRCm39) |
V509A |
possibly damaging |
Het |
Nav2 |
C |
T |
7: 49,206,780 (GRCm39) |
T1535I |
probably damaging |
Het |
Nlrp4d |
G |
T |
7: 10,112,256 (GRCm39) |
S626* |
probably null |
Het |
Nup188 |
T |
A |
2: 30,215,358 (GRCm39) |
I732K |
probably damaging |
Het |
Oprm1 |
T |
C |
10: 6,738,914 (GRCm39) |
S14P |
probably damaging |
Het |
Or1j12 |
T |
C |
2: 36,342,779 (GRCm39) |
F61L |
probably damaging |
Het |
Or1l8 |
G |
A |
2: 36,817,419 (GRCm39) |
R236C |
probably benign |
Het |
Or5b101 |
C |
T |
19: 13,005,412 (GRCm39) |
A94T |
probably benign |
Het |
Pigr |
G |
A |
1: 130,769,272 (GRCm39) |
V28M |
probably damaging |
Het |
Pnpla2 |
C |
T |
7: 141,038,391 (GRCm39) |
L215F |
probably damaging |
Het |
Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
Rasal1 |
T |
A |
5: 120,809,685 (GRCm39) |
L530Q |
probably damaging |
Het |
Sdccag8 |
A |
T |
1: 176,775,937 (GRCm39) |
K616M |
possibly damaging |
Het |
Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Trav7d-4 |
C |
T |
14: 53,007,584 (GRCm39) |
Q26* |
probably null |
Het |
Zcchc8 |
A |
G |
5: 123,858,930 (GRCm39) |
S22P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCGAAGAAAGAGCAGCATCCTG -3'
(R):5'- ACTGACTGGTTCTGTGACAGC -3'
Sequencing Primer
(F):5'- CAGCATCCTGGTGTCCTTAAGG -3'
(R):5'- CTGTGACAGCGCTGGTTGC -3'
|
Posted On |
2014-12-29 |