Incidental Mutation 'R6946:Vipr2'
| ID |
540899 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vipr2
|
| Ensembl Gene |
ENSMUSG00000011171 |
| Gene Name |
vasoactive intestinal peptide receptor 2 |
| Synonyms |
VPAC2R, VPAC2, VIP receptor subtype 2, Vip2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6946 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116041346-116109881 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116102819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 310
(T310S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011315]
|
| AlphaFold |
P41588 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000011315
AA Change: T310S
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000011315
Gene: ENSMUSG00000011171
AA Change: T310S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
HormR
|
47 |
117 |
8.35e-25 |
SMART |
|
Pfam:7tm_2
|
122 |
370 |
1.5e-81 |
PFAM |
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.0799 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit enhanced delayed-type hypersensitivity (type IV) and reduced immediate-type hypersensitivity (type I). [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,624,953 (GRCm39) |
S481C |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,779,968 (GRCm39) |
T1142A |
possibly damaging |
Het |
| Atxn1l |
G |
T |
8: 110,458,648 (GRCm39) |
P538H |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,299,528 (GRCm39) |
N332S |
possibly damaging |
Het |
| Clec4b2 |
C |
T |
6: 123,177,987 (GRCm39) |
Q101* |
probably null |
Het |
| Clstn2 |
A |
T |
9: 97,351,875 (GRCm39) |
F517I |
probably damaging |
Het |
| Dap3 |
T |
A |
3: 88,845,523 (GRCm39) |
|
probably benign |
Het |
| Dgki |
C |
A |
6: 37,276,571 (GRCm39) |
G105* |
probably null |
Het |
| Dnm3 |
T |
C |
1: 162,141,224 (GRCm39) |
E345G |
possibly damaging |
Het |
| Fam120a |
A |
T |
13: 49,034,496 (GRCm39) |
S1039T |
possibly damaging |
Het |
| Gpr132 |
T |
A |
12: 112,815,830 (GRCm39) |
Y332F |
probably benign |
Het |
| Ifi44 |
A |
T |
3: 151,451,536 (GRCm39) |
I190N |
possibly damaging |
Het |
| Ighv1-42 |
T |
A |
12: 114,901,155 (GRCm39) |
N4Y |
possibly damaging |
Het |
| Igll1 |
A |
G |
16: 16,678,920 (GRCm39) |
V130A |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,616,955 (GRCm39) |
K137* |
probably null |
Het |
| Klra9 |
T |
A |
6: 130,156,003 (GRCm39) |
I251F |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,587,451 (GRCm39) |
I166V |
probably benign |
Het |
| Map3k1 |
C |
T |
13: 111,905,035 (GRCm39) |
W213* |
probably null |
Het |
| Map3k12 |
A |
G |
15: 102,413,569 (GRCm39) |
M134T |
possibly damaging |
Het |
| Mfsd3 |
T |
A |
15: 76,587,349 (GRCm39) |
M344K |
probably damaging |
Het |
| Mier2 |
C |
A |
10: 79,376,673 (GRCm39) |
|
probably benign |
Het |
| Nop53 |
C |
T |
7: 15,672,283 (GRCm39) |
R462Q |
probably damaging |
Het |
| Oog2 |
A |
T |
4: 143,923,034 (GRCm39) |
D433V |
possibly damaging |
Het |
| Or5p76 |
T |
A |
7: 108,122,528 (GRCm39) |
I210F |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,670 (GRCm39) |
L30M |
possibly damaging |
Het |
| Or8g30 |
C |
A |
9: 39,230,315 (GRCm39) |
L198F |
probably damaging |
Het |
| Or8k38 |
T |
A |
2: 86,487,932 (GRCm39) |
Y290F |
probably damaging |
Het |
| Pan2 |
A |
G |
10: 128,151,506 (GRCm39) |
T867A |
probably benign |
Het |
| Pcdhb3 |
T |
A |
18: 37,435,672 (GRCm39) |
L546Q |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,230,929 (GRCm39) |
M4L |
probably benign |
Het |
| Prss21 |
T |
C |
17: 24,087,138 (GRCm39) |
S24P |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,661,545 (GRCm39) |
D1815G |
probably damaging |
Het |
| Scd4 |
A |
G |
19: 44,321,953 (GRCm39) |
E8G |
probably null |
Het |
| Sec31b |
T |
C |
19: 44,522,755 (GRCm39) |
D79G |
probably damaging |
Het |
| Siah1a |
G |
T |
8: 87,451,770 (GRCm39) |
A238E |
probably damaging |
Het |
| Spag17 |
G |
A |
3: 99,911,999 (GRCm39) |
E290K |
possibly damaging |
Het |
| Srl |
T |
C |
16: 4,300,423 (GRCm39) |
I883V |
probably benign |
Het |
| Tas2r117 |
T |
C |
6: 132,780,288 (GRCm39) |
L142S |
probably damaging |
Het |
| Trgv1 |
T |
C |
13: 19,524,190 (GRCm39) |
L2P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,580,199 (GRCm39) |
W23565R |
probably damaging |
Het |
| Zfp112 |
A |
T |
7: 23,824,766 (GRCm39) |
N245Y |
probably damaging |
Het |
|
| Other mutations in Vipr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00691:Vipr2
|
APN |
12 |
116,102,368 (GRCm39) |
splice site |
probably null |
|
|
IGL02233:Vipr2
|
APN |
12 |
116,058,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02691:Vipr2
|
APN |
12 |
116,099,849 (GRCm39) |
missense |
probably benign |
0.11 |
|
PIT4377001:Vipr2
|
UTSW |
12 |
116,058,418 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0135:Vipr2
|
UTSW |
12 |
116,106,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0207:Vipr2
|
UTSW |
12 |
116,106,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1389:Vipr2
|
UTSW |
12 |
116,100,950 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1560:Vipr2
|
UTSW |
12 |
116,058,401 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1575:Vipr2
|
UTSW |
12 |
116,107,892 (GRCm39) |
missense |
probably benign |
|
|
R1696:Vipr2
|
UTSW |
12 |
116,102,777 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1970:Vipr2
|
UTSW |
12 |
116,099,826 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2010:Vipr2
|
UTSW |
12 |
116,086,430 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3873:Vipr2
|
UTSW |
12 |
116,099,724 (GRCm39) |
unclassified |
probably benign |
|
|
R4713:Vipr2
|
UTSW |
12 |
116,043,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4953:Vipr2
|
UTSW |
12 |
116,107,876 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6041:Vipr2
|
UTSW |
12 |
116,106,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6337:Vipr2
|
UTSW |
12 |
116,086,363 (GRCm39) |
nonsense |
probably null |
|
|
R6902:Vipr2
|
UTSW |
12 |
116,102,819 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7763:Vipr2
|
UTSW |
12 |
116,086,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9339:Vipr2
|
UTSW |
12 |
116,058,344 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9523:Vipr2
|
UTSW |
12 |
116,093,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Vipr2
|
UTSW |
12 |
116,106,565 (GRCm39) |
splice site |
probably null |
|
|
X0067:Vipr2
|
UTSW |
12 |
116,102,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAACTTTATGCAGTAGTACC -3'
(R):5'- AGACTCCAGTGTCAGTGCAC -3'
Sequencing Primer
(F):5'- TATGCAGTAGTACCCTCAATGC -3'
(R):5'- CAGTGCACGTTGAGCCTTAGAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation