Incidental Mutation 'IGL02691:Vipr2'
ID303726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vipr2
Ensembl Gene ENSMUSG00000011171
Gene Namevasoactive intestinal peptide receptor 2
SynonymsVPAC2R, VPAC2, VIP receptor subtype 2, Vip2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL02691
Quality Score
Status
Chromosome12
Chromosomal Location116077726-116146261 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 116136229 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 239 (C239S)
Ref Sequence ENSEMBL: ENSMUSP00000011315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011315]
Predicted Effect probably benign
Transcript: ENSMUST00000011315
AA Change: C239S

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000011315
Gene: ENSMUSG00000011171
AA Change: C239S

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000175871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176078
Predicted Effect probably benign
Transcript: ENSMUST00000176433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177199
Coding Region Coverage
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,761,664 S40P probably benign Het
Actl9 G T 17: 33,433,118 V51L probably damaging Het
Adcy6 A T 15: 98,604,304 F143Y probably damaging Het
Agps A T 2: 75,891,860 I465F probably benign Het
Armc3 T A 2: 19,235,484 F17L probably damaging Het
Arsk A C 13: 76,074,950 M176R probably damaging Het
Asz1 G A 6: 18,076,557 T212I probably damaging Het
Atp6v1a A G 16: 44,111,619 I102T probably damaging Het
Bpifb6 T A 2: 153,902,645 L2Q unknown Het
Cad A G 5: 31,055,294 Y45C probably damaging Het
Ccdc93 A G 1: 121,486,613 D451G possibly damaging Het
Cenpj A G 14: 56,552,090 I834T probably benign Het
Cyp2j12 C T 4: 96,132,994 probably null Het
Dhx8 G A 11: 101,752,004 probably benign Het
Dync1i1 A G 6: 5,800,767 probably benign Het
Ell2 T A 13: 75,756,486 D99E probably damaging Het
Enpp1 G T 10: 24,711,892 P34T probably damaging Het
Fras1 T A 5: 96,744,705 V2888E possibly damaging Het
Gm10451 T C 12: 76,451,299 noncoding transcript Het
Gmfg A G 7: 28,444,870 Y40C probably damaging Het
Gnal T C 18: 67,222,675 I369T probably damaging Het
Gzmn T C 14: 56,166,913 T156A probably benign Het
H2-DMb2 A T 17: 34,147,858 H88L probably benign Het
Ighv7-3 T C 12: 114,153,396 T49A probably benign Het
Jakmip3 C T 7: 139,026,844 Q450* probably null Het
Klhl20 A T 1: 161,106,874 probably benign Het
Klk6 A G 7: 43,828,500 T99A probably benign Het
Lhx3 A G 2: 26,203,085 C118R probably damaging Het
Mapkbp1 T C 2: 119,973,174 probably benign Het
Naa15 A G 3: 51,451,326 E294G probably damaging Het
Nfia C T 4: 98,081,808 Q373* probably null Het
Notch2 C A 3: 98,135,607 Y1429* probably null Het
Oc90 A G 15: 65,882,561 S252P probably damaging Het
Olfr1084 T C 2: 86,638,838 Y290C probably damaging Het
Olfr681 A G 7: 105,122,131 I225V probably damaging Het
Pde3b T A 7: 114,508,085 probably benign Het
Pdss1 G A 2: 22,915,241 V211I probably benign Het
Phactr1 G T 13: 43,077,737 M226I probably benign Het
Phf11c A G 14: 59,384,787 S259P probably damaging Het
Phf20l1 A G 15: 66,604,864 N269S probably damaging Het
Piezo1 A G 8: 122,501,949 V229A possibly damaging Het
Plcb2 T C 2: 118,710,963 K997R probably benign Het
Ppm1m A T 9: 106,195,369 V449E probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rgs14 A G 13: 55,379,023 probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Scamp5 G T 9: 57,451,377 R39S probably damaging Het
Slc5a6 C T 5: 31,042,174 V15I probably damaging Het
Snx25 A T 8: 46,105,265 V235E possibly damaging Het
Tdrd1 G T 19: 56,843,852 E400D probably damaging Het
Tln1 T C 4: 43,539,544 R1593G probably benign Het
Trdv2-2 T C 14: 53,961,582 F110L possibly damaging Het
Ush2a A C 1: 188,734,752 Y2871S probably damaging Het
Vars2 A C 17: 35,660,248 L592R probably damaging Het
Vmn1r200 A T 13: 22,395,258 D68V probably damaging Het
Vmn1r7 A T 6: 57,024,388 S296T probably benign Het
Vmn2r95 T C 17: 18,451,858 I619T probably benign Het
Other mutations in Vipr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00691:Vipr2 APN 12 116138748 splice site probably null
IGL02233:Vipr2 APN 12 116094736 missense probably damaging 0.99
PIT4377001:Vipr2 UTSW 12 116094798 missense probably benign 0.01
R0135:Vipr2 UTSW 12 116142827 missense probably benign 0.00
R0207:Vipr2 UTSW 12 116142882 missense probably damaging 1.00
R1389:Vipr2 UTSW 12 116137330 missense probably benign 0.01
R1560:Vipr2 UTSW 12 116094781 missense probably benign 0.18
R1575:Vipr2 UTSW 12 116144272 missense probably benign
R1696:Vipr2 UTSW 12 116139157 missense probably benign 0.13
R1970:Vipr2 UTSW 12 116136206 missense probably benign 0.01
R2010:Vipr2 UTSW 12 116122810 critical splice donor site probably null
R3873:Vipr2 UTSW 12 116136104 unclassified probably benign
R4713:Vipr2 UTSW 12 116080131 missense probably benign 0.00
R4953:Vipr2 UTSW 12 116144256 missense probably benign 0.07
R6041:Vipr2 UTSW 12 116142984 missense probably damaging 1.00
R6337:Vipr2 UTSW 12 116122743 nonsense probably null
R6902:Vipr2 UTSW 12 116139199 missense possibly damaging 0.46
R6946:Vipr2 UTSW 12 116139199 missense possibly damaging 0.46
R7763:Vipr2 UTSW 12 116122718 missense probably damaging 1.00
X0066:Vipr2 UTSW 12 116142945 splice site probably null
X0067:Vipr2 UTSW 12 116139172 missense probably damaging 1.00
Posted On2015-04-16