Incidental Mutation 'IGL02182:Vip'
ID |
283295 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vip
|
Ensembl Gene |
ENSMUSG00000019772 |
Gene Name |
vasoactive intestinal polypeptide |
Synonyms |
PHI, peptide histidine isoleucine |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.199)
|
Stock # |
IGL02182
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
5589218-5597617 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5593561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 91
(Y91F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019906
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019906]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019906
AA Change: Y91F
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000019906 Gene: ENSMUSG00000019772 AA Change: Y91F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
GLUCA
|
82 |
108 |
2.87e-11 |
SMART |
GLUCA
|
126 |
152 |
6.39e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217331
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a neuropeptide of the glucagon/secretin superfamily with potent bronchodilator, immunomodulator and anti-inflammatory properties. The encoded protein is proteolytically processed to generate two structurally similar neuropeptides - vasoactive intestinal peptide (VIP) and peptide histidine isoleucine (PHI). In the digestive tract, VIP stimulates relaxation of enteric smooth muscle, secretion of water and electrolytes, release of insulin and glucagon, and inhibition of gastric acid secretion. In the cardiovascular system, VIP causes coronary vasodilation and stimulates contractility in the heart. Mice lacking VIP exhibit airway hyperresponsiveness and airway inflammation. Male mice lacking VIP exhibit moderate pulmonary arterial hypertension resulting in increased mortality. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015] PHENOTYPE: Homozygous null mutants display abnormal circadian rhythyms with a shorter period, abnormal phase, and in 1/4 arrhythmic circadian persistence. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
A |
8: 44,104,790 (GRCm39) |
N285I |
probably benign |
Het |
Adprh |
T |
C |
16: 38,267,838 (GRCm39) |
H149R |
probably benign |
Het |
Ahctf1 |
A |
G |
1: 179,580,643 (GRCm39) |
V1853A |
probably benign |
Het |
Ank1 |
T |
C |
8: 23,603,868 (GRCm39) |
V905A |
possibly damaging |
Het |
Atp10b |
T |
G |
11: 43,139,774 (GRCm39) |
L1234R |
probably damaging |
Het |
Bco1 |
G |
A |
8: 117,859,805 (GRCm39) |
A503T |
probably damaging |
Het |
Clxn |
T |
A |
16: 14,738,659 (GRCm39) |
D163E |
probably damaging |
Het |
Cpz |
T |
A |
5: 35,675,066 (GRCm39) |
Y61F |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 31,013,737 (GRCm39) |
M3826K |
possibly damaging |
Het |
Dtd2 |
A |
G |
12: 52,046,492 (GRCm39) |
S116P |
probably benign |
Het |
Eml5 |
T |
C |
12: 98,768,581 (GRCm39) |
D1498G |
probably damaging |
Het |
Fat4 |
T |
C |
3: 38,944,695 (GRCm39) |
V1196A |
probably damaging |
Het |
Gm15557 |
T |
C |
2: 155,783,737 (GRCm39) |
D405G |
probably damaging |
Het |
Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
Mfsd11 |
T |
A |
11: 116,764,740 (GRCm39) |
V388E |
possibly damaging |
Het |
Ms4a20 |
A |
T |
19: 11,074,436 (GRCm39) |
|
probably benign |
Het |
Or10a3m |
A |
G |
7: 108,313,075 (GRCm39) |
T160A |
probably benign |
Het |
Or52b4 |
A |
G |
7: 102,184,775 (GRCm39) |
I274V |
probably benign |
Het |
Pik3cg |
A |
T |
12: 32,255,272 (GRCm39) |
D238E |
possibly damaging |
Het |
Plcb3 |
T |
C |
19: 6,946,988 (GRCm39) |
H9R |
probably benign |
Het |
Ppp3cc |
A |
C |
14: 70,462,473 (GRCm39) |
V388G |
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,321,582 (GRCm39) |
C2626* |
probably null |
Het |
Resp18 |
T |
C |
1: 75,250,615 (GRCm39) |
T155A |
probably benign |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Scarb2 |
C |
T |
5: 92,601,913 (GRCm39) |
S327N |
probably damaging |
Het |
Secisbp2l |
T |
A |
2: 125,589,497 (GRCm39) |
I684F |
probably damaging |
Het |
Slc39a6 |
T |
C |
18: 24,734,347 (GRCm39) |
D114G |
probably damaging |
Het |
Smap1 |
T |
A |
1: 23,898,180 (GRCm39) |
E85D |
probably damaging |
Het |
Tas2r121 |
T |
A |
6: 132,677,133 (GRCm39) |
I280F |
probably damaging |
Het |
Uhrf2 |
T |
C |
19: 30,016,609 (GRCm39) |
V86A |
probably benign |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
Zfp618 |
G |
A |
4: 63,013,798 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Vip |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01018:Vip
|
APN |
10 |
5,592,480 (GRCm39) |
missense |
probably benign |
0.28 |
R0082:Vip
|
UTSW |
10 |
5,594,953 (GRCm39) |
makesense |
probably null |
|
R0267:Vip
|
UTSW |
10 |
5,594,004 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1776:Vip
|
UTSW |
10 |
5,594,992 (GRCm39) |
critical splice donor site |
probably null |
|
R3973:Vip
|
UTSW |
10 |
5,592,590 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4803:Vip
|
UTSW |
10 |
5,594,099 (GRCm39) |
missense |
probably damaging |
0.99 |
R5898:Vip
|
UTSW |
10 |
5,593,988 (GRCm39) |
missense |
probably damaging |
0.96 |
R6365:Vip
|
UTSW |
10 |
5,594,021 (GRCm39) |
nonsense |
probably null |
|
R9571:Vip
|
UTSW |
10 |
5,590,661 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |