Incidental Mutation 'R7391:Ncr1'
ID 573436
Institutional Source Beutler Lab
Gene Symbol Ncr1
Ensembl Gene ENSMUSG00000062524
Gene Name natural cytotoxicity triggering receptor 1
Synonyms Ly94, NKp46, MAR1 (mouse activating receptor 1), Cd335
MMRRC Submission 045473-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R7391 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 4340723-4348163 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4347470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 249 (W249R)
Ref Sequence ENSEMBL: ENSMUSP00000006792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006792] [ENSMUST00000126417]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000006792
AA Change: W249R

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000006792
Gene: ENSMUSG00000062524
AA Change: W249R

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 possibly damaging
Transcript: ENSMUST00000126417
AA Change: W212R

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (79/80)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef3 A T 10: 18,522,007 (GRCm39) I673K probably benign Het
Arhgap32 C A 9: 32,093,235 (GRCm39) T196K probably benign Het
Azi2 T A 9: 117,879,960 (GRCm39) probably null Het
B3gnt2 A T 11: 22,786,482 (GRCm39) C235* probably null Het
Capn5 C T 7: 97,780,426 (GRCm39) V315M probably benign Het
Ccl24 T A 5: 135,599,676 (GRCm39) R111S possibly damaging Het
Cdk9 A G 2: 32,602,083 (GRCm39) V45A probably damaging Het
Cep162 G T 9: 87,130,547 (GRCm39) S21* probably null Het
Chil3 T A 3: 106,071,496 (GRCm39) Y56F probably damaging Het
Ctr9 T A 7: 110,642,378 (GRCm39) L368* probably null Het
Ctss A G 3: 95,436,852 (GRCm39) E45G probably benign Het
Cyp2c29 A T 19: 39,296,211 (GRCm39) Q214L probably null Het
Cyp2d34 T A 15: 82,502,587 (GRCm39) N183I probably benign Het
Dhx29 T A 13: 113,099,393 (GRCm39) N1139K probably benign Het
Elp1 C A 4: 56,781,211 (GRCm39) Q487H possibly damaging Het
Elp1 T G 4: 56,781,212 (GRCm39) Q487P probably benign Het
Ermp1 C A 19: 29,604,468 (GRCm39) probably null Het
Ermp1 T A 19: 29,604,469 (GRCm39) probably null Het
Evi2 A G 11: 79,406,493 (GRCm39) S361P probably benign Het
Ext2 T A 2: 93,560,612 (GRCm39) K518M probably damaging Het
Fgl1 A C 8: 41,663,483 (GRCm39) M15R probably benign Het
Fsip2 T G 2: 82,820,663 (GRCm39) D5465E possibly damaging Het
Hdlbp A T 1: 93,358,783 (GRCm39) I256N possibly damaging Het
Hmmr G T 11: 40,598,613 (GRCm39) probably null Het
Hnrnpu T C 1: 178,164,643 (GRCm39) Q165R unknown Het
Homer3 G A 8: 70,742,134 (GRCm39) A132T probably benign Het
Ift70a1 T C 2: 75,810,359 (GRCm39) K575E probably benign Het
Kcnb1 T C 2: 166,947,370 (GRCm39) R493G probably damaging Het
Kcnn3 A T 3: 89,516,778 (GRCm39) T396S probably benign Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Krtap4-1 A G 11: 99,518,810 (GRCm39) S67P unknown Het
Lama4 G T 10: 38,963,383 (GRCm39) probably null Het
Lrrtm2 T A 18: 35,345,818 (GRCm39) I495F possibly damaging Het
Mical2 A T 7: 111,919,816 (GRCm39) E442V probably damaging Het
Muc16 C T 9: 18,550,832 (GRCm39) V5154I probably benign Het
Nav3 A T 10: 109,539,317 (GRCm39) M2028K probably benign Het
Neurod6 T C 6: 55,656,616 (GRCm39) D7G probably damaging Het
Nwd1 A G 8: 73,389,046 (GRCm39) E158G probably damaging Het
Or10ak7 A T 4: 118,791,198 (GRCm39) N282K possibly damaging Het
Or2h15 A T 17: 38,441,941 (GRCm39) F47L probably benign Het
Or2t26 A G 11: 49,039,806 (GRCm39) T241A probably damaging Het
Or2y11 T C 11: 49,443,371 (GRCm39) S266P probably damaging Het
Or51a39 T C 7: 102,363,189 (GRCm39) N144D probably benign Het
Padi2 A G 4: 140,665,266 (GRCm39) D457G probably benign Het
Parn C A 16: 13,485,870 (GRCm39) probably null Het
Pcdh1 C T 18: 38,335,838 (GRCm39) E266K possibly damaging Het
Pigr A G 1: 130,777,303 (GRCm39) D703G probably damaging Het
Ppm1f T A 16: 16,732,098 (GRCm39) S183T probably benign Het
Ppp2r5b T A 19: 6,278,544 (GRCm39) Q455L probably benign Het
Pramel20 T A 4: 143,298,876 (GRCm39) L273H probably damaging Het
Ptpn13 C T 5: 103,688,847 (GRCm39) S880L probably damaging Het
R3hdm4 T C 10: 79,746,943 (GRCm39) K240R probably benign Het
Rin1 T C 19: 5,100,888 (GRCm39) M1T probably null Het
Rundc3b T A 5: 8,609,455 (GRCm39) M170L probably benign Het
Ryr3 A T 2: 112,611,322 (GRCm39) probably null Het
Scn11a T C 9: 119,624,783 (GRCm39) D513G probably damaging Het
Slc27a2 C A 2: 126,395,082 (GRCm39) P3Q unknown Het
Slc4a8 A G 15: 100,682,743 (GRCm39) I187M probably damaging Het
Slc6a11 A T 6: 114,215,422 (GRCm39) I441F probably benign Het
Stx2 C T 5: 129,065,867 (GRCm39) R263Q probably damaging Het
Svep1 A T 4: 58,145,185 (GRCm39) W427R probably damaging Het
Tes T A 6: 17,096,166 (GRCm39) H51Q probably damaging Het
Thnsl2 T C 6: 71,108,914 (GRCm39) D299G probably damaging Het
Tmem30b T C 12: 73,592,702 (GRCm39) S138G probably benign Het
Tmprss11c T A 5: 86,385,650 (GRCm39) H274L probably damaging Het
Trim10 G A 17: 37,180,773 (GRCm39) M1I probably null Het
Unc13b A G 4: 43,216,459 (GRCm39) I253V probably benign Het
Unc80 A G 1: 66,734,687 (GRCm39) S3305G probably benign Het
Ush2a TCACC TC 1: 188,694,205 (GRCm39) probably benign Het
Virma A G 4: 11,508,099 (GRCm39) D267G probably damaging Het
Vmn1r46 C T 6: 89,953,607 (GRCm39) S152L probably benign Het
Wdr90 T C 17: 26,065,502 (GRCm39) N1621S probably benign Het
Zfhx3 G A 8: 109,674,475 (GRCm39) A1842T probably damaging Het
Zfp583 A G 7: 6,319,498 (GRCm39) S505P probably damaging Het
Zfp608 T C 18: 55,030,619 (GRCm39) Y1107C possibly damaging Het
Zfp616 A G 11: 73,976,155 (GRCm39) H808R probably benign Het
Zfp677 T C 17: 21,618,653 (GRCm39) F570S possibly damaging Het
Zfp85 A T 13: 67,897,410 (GRCm39) Y221N probably damaging Het
Other mutations in Ncr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Ncr1 APN 7 4,344,287 (GRCm39) missense possibly damaging 0.50
IGL01994:Ncr1 APN 7 4,344,253 (GRCm39) missense probably benign 0.16
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
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
Predicted Primers PCR Primer
(F):5'- AGTCTCTGGGGAAGGTACAG -3'
(R):5'- TCAAAGTAATGCTGCATTCTCCATC -3'

Sequencing Primer
(F):5'- GTAGGGACATCCTTGTGACAAG -3'
(R):5'- AGTAATGCTGCATTCTCCATCTTCTC -3'
Posted On 2019-09-13