Incidental Mutation 'IGL01994:Ncr1'
ID183595
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncr1
Ensembl Gene ENSMUSG00000062524
Gene Namenatural cytotoxicity triggering receptor 1
SynonymsNKp46, MAR1 (mouse activating receptor 1), Ly94
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.048) question?
Stock #IGL01994
Quality Score
Status
Chromosome7
Chromosomal Location4337724-4345164 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 4341254 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 177 (V177F)
Ref Sequence ENSEMBL: ENSMUSP00000145847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006792] [ENSMUST00000126417]
Predicted Effect probably benign
Transcript: ENSMUST00000006792
AA Change: V214F

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000006792
Gene: ENSMUSG00000062524
AA Change: V214F

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IG 34 118 5.21e-2 SMART
IG 129 211 1.49e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126417
AA Change: V177F

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 A T 13: 12,290,677 Y418N probably benign Het
Adam15 T C 3: 89,341,505 probably benign Het
Adam32 C A 8: 24,902,796 probably benign Het
Adamts12 T A 15: 11,345,594 C1574S probably damaging Het
Adck1 T C 12: 88,431,156 S187P possibly damaging Het
Atp13a3 A G 16: 30,337,518 V949A possibly damaging Het
Atxn3 T C 12: 101,942,180 T138A probably benign Het
Atxn7l2 C T 3: 108,203,543 R559Q probably damaging Het
Bicra G T 7: 15,972,816 S1233R possibly damaging Het
Cacybp G T 1: 160,206,636 N101K probably damaging Het
Cops7b T C 1: 86,601,106 L185P probably damaging Het
Cttnbp2 T C 6: 18,420,815 D899G possibly damaging Het
Cyp4f37 C T 17: 32,625,176 R85* probably null Het
Dnah3 T G 7: 119,951,214 N3294T possibly damaging Het
Elmo1 T A 13: 20,342,464 Y395N probably damaging Het
Fam234b T A 6: 135,225,205 Y308* probably null Het
Fam43a A G 16: 30,600,663 K22E probably damaging Het
Fcer2a T C 8: 3,688,302 N123D possibly damaging Het
Gm11595 A G 11: 99,772,201 C218R unknown Het
Gria4 T C 9: 4,537,726 Y194C probably damaging Het
Grin2d T C 7: 45,857,972 E435G probably damaging Het
Hectd1 T C 12: 51,797,942 E506G probably damaging Het
Htt G A 5: 34,832,604 S1160N possibly damaging Het
Ift140 A G 17: 25,048,443 E605G probably damaging Het
Il17re T C 6: 113,468,450 V374A probably benign Het
Ippk A G 13: 49,458,617 Q439R possibly damaging Het
Itgam G A 7: 128,101,727 V530M probably damaging Het
Kirrel3 A G 9: 35,020,133 H47R possibly damaging Het
Klk1b24 A T 7: 44,191,633 I162F probably damaging Het
Lama1 A T 17: 67,752,439 T606S probably benign Het
Lama2 C T 10: 27,467,203 probably null Het
Lrp2 A G 2: 69,483,601 I2262T probably benign Het
Mamdc4 A T 2: 25,568,534 I317N possibly damaging Het
Mtmr3 G T 11: 4,487,938 H839N probably benign Het
Nop58 T C 1: 59,704,083 S219P probably damaging Het
Nrg3 T C 14: 39,012,086 Y281C probably damaging Het
Nsf A G 11: 103,928,782 S54P probably damaging Het
Olfr421-ps1 T A 1: 174,151,536 S7T probably benign Het
Olfr687 A T 7: 105,275,946 noncoding transcript Het
Plxnc1 T C 10: 94,849,939 K730R probably damaging Het
Polr2g A T 19: 8,794,376 probably benign Het
Rps13 A G 7: 116,333,690 probably benign Het
Scgb2b7 A G 7: 31,703,984 I99T probably benign Het
Slc22a27 G T 19: 7,909,743 H260Q possibly damaging Het
Spata18 G T 5: 73,657,601 probably null Het
Tns2 A G 15: 102,111,379 E560G possibly damaging Het
Trbv16 T C 6: 41,151,781 probably benign Het
Ubr3 T A 2: 70,021,176 I1829N probably damaging Het
Vcl C T 14: 21,003,243 T442I probably damaging Het
Vmn2r102 T A 17: 19,660,469 I24N probably benign Het
Vmn2r114 T C 17: 23,310,477 D217G probably damaging Het
Vmn2r58 A G 7: 41,836,970 Y834H probably damaging Het
Zdhhc8 G T 16: 18,227,772 probably benign Het
Other mutations in Ncr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Ncr1 APN 7 4341288 missense possibly damaging 0.50
IGL02163:Ncr1 APN 7 4341263 missense possibly damaging 0.86
IGL02610:Ncr1 APN 7 4338133 missense probably benign 0.42
IGL02885:Ncr1 APN 7 4338226 missense probably damaging 1.00
IGL03082:Ncr1 APN 7 4341242 splice site probably benign
R0196:Ncr1 UTSW 7 4340973 missense probably damaging 1.00
R1172:Ncr1 UTSW 7 4338121 missense probably benign 0.19
R1758:Ncr1 UTSW 7 4340808 missense probably benign 0.40
R2065:Ncr1 UTSW 7 4338207 missense probably benign 0.00
R2135:Ncr1 UTSW 7 4340757 splice site probably benign
R2397:Ncr1 UTSW 7 4338261 missense probably benign 0.22
R5389:Ncr1 UTSW 7 4340933 missense probably benign 0.01
R5648:Ncr1 UTSW 7 4344520 missense probably damaging 0.97
R5690:Ncr1 UTSW 7 4338297 missense probably damaging 1.00
R5817:Ncr1 UTSW 7 4340895 missense possibly damaging 0.59
R5847:Ncr1 UTSW 7 4344574 missense probably benign 0.04
R7033:Ncr1 UTSW 7 4338145 missense possibly damaging 0.59
R7391:Ncr1 UTSW 7 4344471 missense possibly damaging 0.86
R7395:Ncr1 UTSW 7 4338151 missense probably damaging 1.00
R7680:Ncr1 UTSW 7 4338124 missense possibly damaging 0.52
R8163:Ncr1 UTSW 7 4340829 missense probably damaging 1.00
Posted On2014-05-07