Incidental Mutation 'IGL02546:Minar2'
ID 297844
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Minar2
Ensembl Gene ENSMUSG00000050875
Gene Name membrane integral NOTCH2 associated receptor 2
Synonyms A730017C20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02546
Quality Score
Status
Chromosome 18
Chromosomal Location 59195320-59210034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59205347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 45 (M45K)
Ref Sequence ENSEMBL: ENSMUSP00000135330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058633] [ENSMUST00000117064] [ENSMUST00000118510] [ENSMUST00000165666] [ENSMUST00000175830]
AlphaFold Q8C4X7
Predicted Effect probably damaging
Transcript: ENSMUST00000058633
AA Change: M45K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056379
Gene: ENSMUSG00000050875
AA Change: M45K

DomainStartEndE-ValueType
Pfam:UPF0258 4 151 7.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117064
Predicted Effect probably damaging
Transcript: ENSMUST00000118510
AA Change: M45K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113023
Gene: ENSMUSG00000050875
AA Change: M45K

DomainStartEndE-ValueType
Pfam:UPF0258 4 151 7.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154125
Predicted Effect possibly damaging
Transcript: ENSMUST00000165666
AA Change: M87K

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125952
Gene: ENSMUSG00000050875
AA Change: M87K

DomainStartEndE-ValueType
Pfam:UPF0258 51 192 3.4e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000175830
AA Change: M45K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135330
Gene: ENSMUSG00000050875
AA Change: M45K

DomainStartEndE-ValueType
Pfam:UPF0258 4 150 6.2e-41 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000175897
AA Change: M77K
SMART Domains Protein: ENSMUSP00000135020
Gene: ENSMUSG00000050875
AA Change: M77K

DomainStartEndE-ValueType
Pfam:UPF0258 25 146 4e-30 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G T 12: 52,927,521 (GRCm39) V144L probably damaging Het
Carmil1 A T 13: 24,299,482 (GRCm39) N347K probably damaging Het
Cyp4a32 A G 4: 115,468,520 (GRCm39) Y334C probably damaging Het
Dmxl2 C A 9: 54,273,698 (GRCm39) probably benign Het
Eps8 C T 6: 137,456,064 (GRCm39) A806T probably benign Het
Evl A G 12: 108,614,678 (GRCm39) N24S possibly damaging Het
Fbxo15 T C 18: 84,980,847 (GRCm39) probably null Het
Gm14179 A T 11: 99,634,019 (GRCm39) Het
Hepacam2 A G 6: 3,483,568 (GRCm39) V147A possibly damaging Het
Jmjd1c C A 10: 67,061,115 (GRCm39) P1156Q possibly damaging Het
Mab21l3 A T 3: 101,730,624 (GRCm39) V205E probably damaging Het
Mad2l1 T C 6: 66,512,951 (GRCm39) I28T probably damaging Het
Mroh9 T A 1: 162,908,145 (GRCm39) I2F probably benign Het
Msr1 A T 8: 40,068,788 (GRCm39) I302K probably benign Het
Msrb3 C T 10: 120,685,906 (GRCm39) V80I possibly damaging Het
Ncf4 A G 15: 78,145,219 (GRCm39) D269G probably damaging Het
Nsl1 T A 1: 190,803,398 (GRCm39) H156Q probably benign Het
Nutm1 T C 2: 112,078,669 (GRCm39) D1082G probably benign Het
Or6c216 T A 10: 129,678,416 (GRCm39) D165V probably damaging Het
Or7g20 T A 9: 18,946,650 (GRCm39) V77D possibly damaging Het
Orc4 T C 2: 48,807,296 (GRCm39) I212V probably null Het
Pde6c A G 19: 38,128,488 (GRCm39) I184V probably benign Het
Pfkfb3 A T 2: 11,493,589 (GRCm39) F129Y probably damaging Het
Ppp3cb T C 14: 20,551,622 (GRCm39) D493G probably benign Het
Psg29 A G 7: 16,942,707 (GRCm39) Y236C probably damaging Het
Pzp C T 6: 128,471,662 (GRCm39) probably benign Het
Semp2l2b A T 10: 21,942,826 (GRCm39) W385R probably damaging Het
Sgf29 T A 7: 126,271,025 (GRCm39) V180E probably damaging Het
Sh3bp4 A G 1: 89,071,266 (GRCm39) probably benign Het
Slc39a2 A T 14: 52,132,620 (GRCm39) T188S probably benign Het
Slc6a13 G T 6: 121,310,323 (GRCm39) M327I probably benign Het
Slitrk6 T A 14: 110,987,226 (GRCm39) H827L probably benign Het
Thumpd2 T G 17: 81,361,884 (GRCm39) K114T probably benign Het
Tnfrsf19 A T 14: 61,210,987 (GRCm39) C234S possibly damaging Het
Tns2 A G 15: 102,019,375 (GRCm39) D446G probably damaging Het
Tpm4 A G 8: 72,898,547 (GRCm39) E137G probably damaging Het
Ttn G A 2: 76,625,901 (GRCm39) R13307C probably damaging Het
Ubqln3 A G 7: 103,791,725 (GRCm39) S122P probably benign Het
Ubr5 T C 15: 38,008,991 (GRCm39) D1080G probably benign Het
Ulk4 A T 9: 120,981,373 (GRCm39) L886* probably null Het
Unc80 T C 1: 66,594,112 (GRCm39) S1164P possibly damaging Het
Uspl1 T C 5: 149,141,114 (GRCm39) V371A possibly damaging Het
Virma T C 4: 11,494,804 (GRCm39) V35A probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp787 A T 7: 6,135,297 (GRCm39) I318N probably damaging Het
Other mutations in Minar2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Minar2 APN 18 59,205,349 (GRCm39) missense probably damaging 0.98
IGL01363:Minar2 APN 18 59,205,380 (GRCm39) missense probably damaging 0.99
IGL01621:Minar2 APN 18 59,195,458 (GRCm39) start codon destroyed probably null 0.27
R0200:Minar2 UTSW 18 59,195,531 (GRCm39) splice site probably null
R0390:Minar2 UTSW 18 59,208,760 (GRCm39) missense probably damaging 0.98
R0470:Minar2 UTSW 18 59,208,711 (GRCm39) missense probably damaging 1.00
R0608:Minar2 UTSW 18 59,195,531 (GRCm39) splice site probably null
R1980:Minar2 UTSW 18 59,208,739 (GRCm39) missense probably damaging 0.96
R4916:Minar2 UTSW 18 59,205,277 (GRCm39) missense probably damaging 0.98
R6285:Minar2 UTSW 18 59,205,296 (GRCm39) missense probably benign 0.02
R7252:Minar2 UTSW 18 59,199,980 (GRCm39) critical splice acceptor site probably null
R8771:Minar2 UTSW 18 59,200,052 (GRCm39) intron probably benign
Posted On 2015-04-16