Incidental Mutation 'R9699:Hrh2'
| ID |
729487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hrh2
|
| Ensembl Gene |
ENSMUSG00000034987 |
| Gene Name |
histamine receptor H2 |
| Synonyms |
H2r |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9699 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
54346148-54390199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54368299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 92
(N92Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038101]
[ENSMUST00000209846]
[ENSMUST00000211742]
|
| AlphaFold |
P97292 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038101
AA Change: N92Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038170
Gene: ENSMUSG00000034987
AA Change: N92Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
29 |
302 |
8.9e-13 |
PFAM |
|
Pfam:7tm_1
|
35 |
287 |
1.1e-69 |
PFAM |
|
low complexity region
|
315 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
374 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209846
AA Change: N92Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211742
AA Change: N92Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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 histamine receptors H1, H2, H3 and H4. Histamine receptor H2 belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and stimulates gastric acid secretion. It also regulates gastrointestinal motility and intestinal secretion and is thought to be involved in regulating cell growth and differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit enlarged folds in gastric mucosa, elevated serum gastrin levels, increased numbers of parietal and enterochromaffin-like cells, and lack of secretion of gastric acid in response to histamine or gastrin. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(14) : Targeted(2) Gene trapped(12)
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
G |
T |
1: 57,416,927 (GRCm39) |
R33L |
probably benign |
Het |
| Abhd16b |
A |
T |
2: 181,136,518 (GRCm39) |
R473S |
probably benign |
Het |
| Adcyap1r1 |
A |
G |
6: 55,474,140 (GRCm39) |
D492G |
probably damaging |
Het |
| Ano5 |
A |
T |
7: 51,229,309 (GRCm39) |
N617I |
probably damaging |
Het |
| Cdh15 |
A |
G |
8: 123,588,769 (GRCm39) |
E281G |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,738,614 (GRCm39) |
|
probably null |
Het |
| Dock8 |
G |
A |
19: 25,133,388 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
T |
C |
9: 45,654,315 (GRCm39) |
V1449A |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,282,703 (GRCm39) |
D732G |
probably damaging |
Het |
| Fam174c |
T |
A |
10: 80,010,161 (GRCm39) |
|
probably null |
Het |
| Fhip2b |
A |
T |
14: 70,825,179 (GRCm39) |
S386T |
possibly damaging |
Het |
| Gimap6 |
T |
C |
6: 48,684,951 (GRCm39) |
E45G |
probably benign |
Het |
| Glt1d1 |
C |
A |
5: 127,771,364 (GRCm39) |
T285K |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,007,636 (GRCm39) |
Y86* |
probably null |
Het |
| Grip2 |
A |
G |
6: 91,742,318 (GRCm39) |
S912P |
probably benign |
Het |
| Gucy2d |
T |
A |
7: 98,108,290 (GRCm39) |
I741N |
probably damaging |
Het |
| Klrc2 |
T |
A |
6: 129,637,452 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Patl2 |
T |
C |
2: 121,955,591 (GRCm39) |
D285G |
probably damaging |
Het |
| Prpf40a |
A |
G |
2: 53,035,735 (GRCm39) |
V685A |
probably benign |
Het |
| Rspry1 |
A |
G |
8: 95,380,857 (GRCm39) |
H511R |
probably benign |
Het |
| Scarb1 |
G |
T |
5: 125,374,296 (GRCm39) |
A279E |
probably damaging |
Het |
| Sell |
A |
G |
1: 163,893,114 (GRCm39) |
E110G |
probably damaging |
Het |
| Sftpc |
A |
T |
14: 70,760,143 (GRCm39) |
I38N |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc5a4b |
C |
A |
10: 75,946,674 (GRCm39) |
V33F |
probably damaging |
Het |
| Smad7 |
A |
G |
18: 75,527,161 (GRCm39) |
S336G |
probably damaging |
Het |
| Tnpo3 |
C |
T |
6: 29,565,768 (GRCm39) |
V529I |
probably benign |
Het |
| Trafd1 |
A |
G |
5: 121,517,727 (GRCm39) |
V22A |
probably benign |
Het |
| Tssk1 |
A |
G |
16: 17,712,545 (GRCm39) |
E110G |
probably damaging |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,675 (GRCm39) |
V119D |
probably damaging |
Het |
| Vmn1r191 |
A |
G |
13: 22,363,355 (GRCm39) |
F133S |
probably benign |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Zfp830 |
C |
T |
11: 82,655,805 (GRCm39) |
T203I |
possibly damaging |
Het |
| Zw10 |
G |
T |
9: 48,966,942 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Hrh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00720:Hrh2
|
APN |
13 |
54,368,840 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02044:Hrh2
|
APN |
13 |
54,368,965 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02318:Hrh2
|
APN |
13 |
54,368,669 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02468:Hrh2
|
APN |
13 |
54,368,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02834:Hrh2
|
APN |
13 |
54,369,019 (GRCm39) |
missense |
probably benign |
|
|
P0012:Hrh2
|
UTSW |
13 |
54,368,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4688:Hrh2
|
UTSW |
13 |
54,368,820 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7189:Hrh2
|
UTSW |
13 |
54,375,270 (GRCm39) |
missense |
unknown |
|
|
R7207:Hrh2
|
UTSW |
13 |
54,368,266 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7664:Hrh2
|
UTSW |
13 |
54,368,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Hrh2
|
UTSW |
13 |
54,368,549 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7762:Hrh2
|
UTSW |
13 |
54,368,058 (GRCm39) |
nonsense |
probably null |
|
|
R8053:Hrh2
|
UTSW |
13 |
54,368,104 (GRCm39) |
missense |
probably benign |
|
|
R8726:Hrh2
|
UTSW |
13 |
54,368,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Hrh2
|
UTSW |
13 |
54,368,358 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9342:Hrh2
|
UTSW |
13 |
54,368,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9796:Hrh2
|
UTSW |
13 |
54,375,241 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGTTGCTGGCAATGTGG -3'
(R):5'- TTGAAGGTGTCATTGCCCC -3'
Sequencing Primer
(F):5'- GCAATGTGGTCGTCTGCC -3'
(R):5'- CTGTTCCATCCTAGGTGAATAGAGAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation