Incidental Mutation 'R4275:Vipr1'
| ID |
324760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vipr1
|
| Ensembl Gene |
ENSMUSG00000032528 |
| Gene Name |
vasoactive intestinal peptide receptor 1 |
| Synonyms |
VIP-R1, VPAC1, VIP receptor subtype 1 |
| MMRRC Submission |
041646-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4275 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121471782-121502020 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121493684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 245
(L245P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035115]
|
| AlphaFold |
P97751 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035115
AA Change: L245P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035115
Gene: ENSMUSG00000032528
AA Change: L245P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
HormR
|
59 |
131 |
7.38e-26 |
SMART |
|
Pfam:7tm_2
|
140 |
386 |
1.4e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129394
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149959
|
| Meta Mutation Damage Score |
0.7618 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (43/44) |
| 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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality associated with severe neonatal growth failure, enlarged cecum, intestinal hemorrhage, and enterocyte hyperproliferation in addition to disorganized islets and impaired glucose homeostasisin surviving mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1e |
T |
C |
1: 154,369,071 (GRCm39) |
Y322C |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,198,614 (GRCm39) |
V1462A |
probably benign |
Het |
| D3Ertd751e |
C |
A |
3: 41,710,589 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
C |
T |
7: 143,396,964 (GRCm39) |
A152V |
probably damaging |
Het |
| Enpep |
A |
T |
3: 129,125,927 (GRCm39) |
N68K |
probably benign |
Het |
| Fam131b |
G |
A |
6: 42,298,241 (GRCm39) |
L43F |
probably damaging |
Het |
| Fbxl5 |
T |
A |
5: 43,920,114 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Hycc2 |
T |
C |
1: 58,569,092 (GRCm39) |
T440A |
probably benign |
Het |
| Igf2 |
T |
C |
7: 142,209,523 (GRCm39) |
M46V |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,905,842 (GRCm39) |
Y367N |
probably damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,343,198 (GRCm39) |
W647R |
probably damaging |
Het |
| Mettl21c |
C |
T |
1: 44,049,716 (GRCm39) |
V110I |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 13,096,114 (GRCm39) |
L118P |
probably damaging |
Het |
| Myadm |
A |
G |
7: 3,345,618 (GRCm39) |
T127A |
probably benign |
Het |
| Myh10 |
A |
T |
11: 68,642,766 (GRCm39) |
|
probably null |
Het |
| Nadk |
T |
A |
4: 155,668,712 (GRCm39) |
Y128N |
probably benign |
Het |
| Or5g27 |
T |
C |
2: 85,410,207 (GRCm39) |
V208A |
probably benign |
Het |
| Or8k39 |
T |
C |
2: 86,563,936 (GRCm39) |
T7A |
probably damaging |
Het |
| Papolg |
A |
G |
11: 23,818,378 (GRCm39) |
I500T |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,128,608 (GRCm39) |
C4032S |
probably benign |
Het |
| Rnase1 |
A |
T |
14: 51,383,327 (GRCm39) |
L9Q |
probably damaging |
Het |
| Rspry1 |
G |
T |
8: 95,376,389 (GRCm39) |
V304L |
probably benign |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Scpep1 |
T |
C |
11: 88,837,968 (GRCm39) |
|
probably null |
Het |
| Serpina3m |
T |
A |
12: 104,355,375 (GRCm39) |
I14N |
probably damaging |
Het |
| Smg6 |
A |
C |
11: 74,884,700 (GRCm39) |
|
probably benign |
Het |
| Suz12 |
T |
C |
11: 79,920,879 (GRCm39) |
M593T |
probably damaging |
Het |
| Tmem139 |
A |
G |
6: 42,241,039 (GRCm39) |
E208G |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,917,205 (GRCm39) |
Y2200C |
probably damaging |
Het |
| Usp19 |
T |
G |
9: 108,375,893 (GRCm39) |
V911G |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,448,902 (GRCm39) |
I92F |
probably damaging |
Het |
| Zbtb47 |
T |
A |
9: 121,595,605 (GRCm39) |
V576D |
probably damaging |
Het |
| Zfp518b |
A |
G |
5: 38,829,071 (GRCm39) |
V978A |
probably damaging |
Het |
|
| Other mutations in Vipr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01456:Vipr1
|
APN |
9 |
121,494,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01779:Vipr1
|
APN |
9 |
121,493,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01809:Vipr1
|
APN |
9 |
121,490,506 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02250:Vipr1
|
APN |
9 |
121,494,255 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02677:Vipr1
|
APN |
9 |
121,489,349 (GRCm39) |
splice site |
probably benign |
|
|
bernalillo
|
UTSW |
9 |
121,493,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0036:Vipr1
|
UTSW |
9 |
121,490,049 (GRCm39) |
missense |
probably benign |
|
|
R0514:Vipr1
|
UTSW |
9 |
121,487,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0629:Vipr1
|
UTSW |
9 |
121,489,237 (GRCm39) |
nonsense |
probably null |
|
|
R1470:Vipr1
|
UTSW |
9 |
121,494,586 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1470:Vipr1
|
UTSW |
9 |
121,494,586 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1766:Vipr1
|
UTSW |
9 |
121,490,485 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1884:Vipr1
|
UTSW |
9 |
121,494,930 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1945:Vipr1
|
UTSW |
9 |
121,497,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1945:Vipr1
|
UTSW |
9 |
121,497,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2366:Vipr1
|
UTSW |
9 |
121,494,250 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4600:Vipr1
|
UTSW |
9 |
121,494,202 (GRCm39) |
splice site |
probably null |
|
|
R5012:Vipr1
|
UTSW |
9 |
121,487,111 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6190:Vipr1
|
UTSW |
9 |
121,493,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:Vipr1
|
UTSW |
9 |
121,493,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6473:Vipr1
|
UTSW |
9 |
121,497,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6476:Vipr1
|
UTSW |
9 |
121,498,489 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6641:Vipr1
|
UTSW |
9 |
121,498,631 (GRCm39) |
makesense |
probably null |
|
|
R6752:Vipr1
|
UTSW |
9 |
121,482,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7189:Vipr1
|
UTSW |
9 |
121,493,620 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7371:Vipr1
|
UTSW |
9 |
121,497,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7419:Vipr1
|
UTSW |
9 |
121,490,539 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7647:Vipr1
|
UTSW |
9 |
121,482,905 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8123:Vipr1
|
UTSW |
9 |
121,498,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8225:Vipr1
|
UTSW |
9 |
121,471,915 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R8675:Vipr1
|
UTSW |
9 |
121,493,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9256:Vipr1
|
UTSW |
9 |
121,490,118 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9343:Vipr1
|
UTSW |
9 |
121,471,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9344:Vipr1
|
UTSW |
9 |
121,471,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9422:Vipr1
|
UTSW |
9 |
121,471,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9424:Vipr1
|
UTSW |
9 |
121,471,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9463:Vipr1
|
UTSW |
9 |
121,471,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9464:Vipr1
|
UTSW |
9 |
121,471,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9517:Vipr1
|
UTSW |
9 |
121,471,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9576:Vipr1
|
UTSW |
9 |
121,471,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9577:Vipr1
|
UTSW |
9 |
121,471,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTGAAAAGCCTGGCTGC -3'
(R):5'- ACGCATTCTGGGGACATTCATG -3'
Sequencing Primer
(F):5'- TGACAGCATCCAAGTTGGCTG -3'
(R):5'- CATTCATGAATGTCGGTGGAGAACC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation