Incidental Mutation 'IGL01994:Ncr1'
ID 183595
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncr1
Ensembl Gene ENSMUSG00000062524
Gene Name natural cytotoxicity triggering receptor 1
Synonyms Ly94, NKp46, MAR1 (mouse activating receptor 1), Cd335
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # IGL01994
Quality Score
Status
Chromosome 7
Chromosomal Location 4340723-4348163 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4344253 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 12,305,563 (GRCm39) Y418N probably benign Het
Adam15 T C 3: 89,248,812 (GRCm39) probably benign Het
Adam32 C A 8: 25,392,812 (GRCm39) probably benign Het
Adamts12 T A 15: 11,345,680 (GRCm39) C1574S probably damaging Het
Adck1 T C 12: 88,397,926 (GRCm39) S187P possibly damaging Het
Atp13a3 A G 16: 30,156,336 (GRCm39) V949A possibly damaging Het
Atxn3 T C 12: 101,908,439 (GRCm39) T138A probably benign Het
Atxn7l2 C T 3: 108,110,859 (GRCm39) R559Q probably damaging Het
Bicra G T 7: 15,706,741 (GRCm39) S1233R possibly damaging Het
Cacybp G T 1: 160,034,206 (GRCm39) N101K probably damaging Het
Cops7b T C 1: 86,528,828 (GRCm39) L185P probably damaging Het
Cttnbp2 T C 6: 18,420,814 (GRCm39) D899G possibly damaging Het
Cyp4f37 C T 17: 32,844,150 (GRCm39) R85* probably null Het
Dnah3 T G 7: 119,550,437 (GRCm39) N3294T possibly damaging Het
Elmo1 T A 13: 20,526,634 (GRCm39) Y395N probably damaging Het
Fam234b T A 6: 135,202,203 (GRCm39) Y308* probably null Het
Fam43a A G 16: 30,419,481 (GRCm39) K22E probably damaging Het
Fcer2a T C 8: 3,738,302 (GRCm39) N123D possibly damaging Het
Gm11595 A G 11: 99,663,027 (GRCm39) C218R unknown Het
Gria4 T C 9: 4,537,726 (GRCm39) Y194C probably damaging Het
Grin2d T C 7: 45,507,396 (GRCm39) E435G probably damaging Het
Hectd1 T C 12: 51,844,725 (GRCm39) E506G probably damaging Het
Htt G A 5: 34,989,948 (GRCm39) S1160N possibly damaging Het
Ift140 A G 17: 25,267,417 (GRCm39) E605G probably damaging Het
Il17re T C 6: 113,445,411 (GRCm39) V374A probably benign Het
Ippk A G 13: 49,612,093 (GRCm39) Q439R possibly damaging Het
Itgam G A 7: 127,700,899 (GRCm39) V530M probably damaging Het
Kirrel3 A G 9: 34,931,429 (GRCm39) H47R possibly damaging Het
Klk1b24 A T 7: 43,841,057 (GRCm39) I162F probably damaging Het
Lama1 A T 17: 68,059,434 (GRCm39) T606S probably benign Het
Lama2 C T 10: 27,343,199 (GRCm39) probably null Het
Lrp2 A G 2: 69,313,945 (GRCm39) I2262T probably benign Het
Mamdc4 A T 2: 25,458,546 (GRCm39) I317N possibly damaging Het
Mtmr3 G T 11: 4,437,938 (GRCm39) H839N probably benign Het
Nop58 T C 1: 59,743,242 (GRCm39) S219P probably damaging Het
Nrg3 T C 14: 38,734,043 (GRCm39) Y281C probably damaging Het
Nsf A G 11: 103,819,608 (GRCm39) S54P probably damaging Het
Or56b6 A T 7: 104,925,153 (GRCm39) noncoding transcript Het
Or6k8-ps1 T A 1: 173,979,102 (GRCm39) S7T probably benign Het
Plxnc1 T C 10: 94,685,801 (GRCm39) K730R probably damaging Het
Polr2g A T 19: 8,771,740 (GRCm39) probably benign Het
Rps13 A G 7: 115,932,925 (GRCm39) probably benign Het
Scgb2b7 A G 7: 31,403,409 (GRCm39) I99T probably benign Het
Slc22a27 G T 19: 7,887,108 (GRCm39) H260Q possibly damaging Het
Spata18 G T 5: 73,814,944 (GRCm39) probably null Het
Tns2 A G 15: 102,019,814 (GRCm39) E560G possibly damaging Het
Trbv16 T C 6: 41,128,715 (GRCm39) probably benign Het
Ubr3 T A 2: 69,851,520 (GRCm39) I1829N probably damaging Het
Vcl C T 14: 21,053,311 (GRCm39) T442I probably damaging Het
Vmn2r102 T A 17: 19,880,731 (GRCm39) I24N probably benign Het
Vmn2r114 T C 17: 23,529,451 (GRCm39) D217G probably damaging Het
Vmn2r58 A G 7: 41,486,394 (GRCm39) Y834H probably damaging Het
Zdhhc8 G T 16: 18,045,636 (GRCm39) probably benign Het
Other mutations in Ncr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Ncr1 APN 7 4,344,287 (GRCm39) missense possibly damaging 0.50
IGL02163:Ncr1 APN 7 4,344,262 (GRCm39) missense possibly damaging 0.86
IGL02610:Ncr1 APN 7 4,341,132 (GRCm39) missense probably benign 0.42
IGL02885:Ncr1 APN 7 4,341,225 (GRCm39) missense probably damaging 1.00
IGL03082:Ncr1 APN 7 4,344,241 (GRCm39) splice site probably benign
R0196:Ncr1 UTSW 7 4,343,972 (GRCm39) missense probably damaging 1.00
R1172:Ncr1 UTSW 7 4,341,120 (GRCm39) missense probably benign 0.19
R1758:Ncr1 UTSW 7 4,343,807 (GRCm39) missense probably benign 0.40
R2065:Ncr1 UTSW 7 4,341,206 (GRCm39) missense probably benign 0.00
R2135:Ncr1 UTSW 7 4,343,756 (GRCm39) splice site probably benign
R2397:Ncr1 UTSW 7 4,341,260 (GRCm39) missense probably benign 0.22
R5389:Ncr1 UTSW 7 4,343,932 (GRCm39) missense probably benign 0.01
R5648:Ncr1 UTSW 7 4,347,519 (GRCm39) missense probably damaging 0.97
R5690:Ncr1 UTSW 7 4,341,296 (GRCm39) missense probably damaging 1.00
R5817:Ncr1 UTSW 7 4,343,894 (GRCm39) missense possibly damaging 0.59
R5847:Ncr1 UTSW 7 4,347,573 (GRCm39) missense probably benign 0.04
R7033:Ncr1 UTSW 7 4,341,144 (GRCm39) missense possibly damaging 0.59
R7391:Ncr1 UTSW 7 4,347,470 (GRCm39) missense possibly damaging 0.86
R7395:Ncr1 UTSW 7 4,341,150 (GRCm39) missense probably damaging 1.00
R7680:Ncr1 UTSW 7 4,341,123 (GRCm39) missense possibly damaging 0.52
R8163:Ncr1 UTSW 7 4,343,828 (GRCm39) missense probably damaging 1.00
R8472:Ncr1 UTSW 7 4,341,120 (GRCm39) missense probably benign 0.19
R8782:Ncr1 UTSW 7 4,340,763 (GRCm39) missense probably benign 0.01
R8880:Ncr1 UTSW 7 4,341,336 (GRCm39) missense probably benign 0.00
R9066:Ncr1 UTSW 7 4,347,552 (GRCm39) missense probably benign 0.13
R9789:Ncr1 UTSW 7 4,344,300 (GRCm39) critical splice donor site probably null
Posted On 2014-05-07