Incidental Mutation 'R0036:Vipr1'
ID 201477
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 038330-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0036 (G1)
Quality Score 29
Status Validated
Chromosome 9
Chromosomal Location 121471782-121502020 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 121490049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 141 (D141N)
Ref Sequence ENSEMBL: ENSMUSP00000035115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035115]
AlphaFold P97751
Predicted Effect probably benign
Transcript: ENSMUST00000035115
AA Change: D141N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035115
Gene: ENSMUSG00000032528
AA Change: D141N

DomainStartEndE-ValueType
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: ENSMUST00000213272
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency 97% (33/34)
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ctsq C T 13: 61,185,485 (GRCm39) probably null Het
Egln3 A T 12: 54,232,378 (GRCm39) D142E possibly damaging Het
Fam120a G A 13: 49,042,740 (GRCm39) probably benign Het
Hspg2 A G 4: 137,270,160 (GRCm39) T2373A probably damaging Het
Pcyox1l G T 18: 61,830,492 (GRCm39) T460K probably benign Het
Phrf1 T C 7: 140,841,693 (GRCm39) M1435T probably damaging Het
Rnf157 A G 11: 116,287,128 (GRCm39) Y32H probably damaging Het
Rnf224 C T 2: 25,126,143 (GRCm39) R70Q probably damaging Het
Rusc2 C A 4: 43,424,009 (GRCm39) D1054E probably damaging Het
S100a16 T A 3: 90,449,763 (GRCm39) M82K probably benign Het
Serpina3j A G 12: 104,283,606 (GRCm39) T235A probably benign Het
Sgo2a T C 1: 58,054,787 (GRCm39) S324P probably benign Het
Slf1 G T 13: 77,249,070 (GRCm39) Q373K probably benign Het
Son T A 16: 91,457,054 (GRCm39) probably benign Het
Tril C T 6: 53,795,618 (GRCm39) A535T probably benign Het
Other mutations in Vipr1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4275:Vipr1 UTSW 9 121,493,684 (GRCm39) missense probably damaging 1.00
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'- ATCTCCACTCTTTGACATGCTGACG -3'
(R):5'- GTTACAGGCCCTGCCTAACAAGATG -3'

Sequencing Primer
(F):5'- GGCTTAGTGAGTACCACTCAG -3'
(R):5'- ACCTCTGGTGCCCAATGTATAG -3'
Posted On 2014-06-13