Incidental Mutation 'IGL01363:Minar2'
ID 75842
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 # IGL01363
Quality Score
Status
Chromosome 18
Chromosomal Location 59195320-59210034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59205380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 98 (G98D)
Ref Sequence ENSEMBL: ENSMUSP00000125952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058633] [ENSMUST00000117064] [ENSMUST00000118510] [ENSMUST00000165666] [ENSMUST00000175830]
AlphaFold Q8C4X7
Predicted Effect possibly damaging
Transcript: ENSMUST00000058633
AA Change: G56D

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000056379
Gene: ENSMUSG00000050875
AA Change: G56D

DomainStartEndE-ValueType
Pfam:UPF0258 4 151 7.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117064
Predicted Effect possibly damaging
Transcript: ENSMUST00000118510
AA Change: G56D

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113023
Gene: ENSMUSG00000050875
AA Change: G56D

DomainStartEndE-ValueType
Pfam:UPF0258 4 151 7.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154125
Predicted Effect probably damaging
Transcript: ENSMUST00000165666
AA Change: G98D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125952
Gene: ENSMUSG00000050875
AA Change: G98D

DomainStartEndE-ValueType
Pfam:UPF0258 51 192 3.4e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000175830
AA Change: G56D

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135330
Gene: ENSMUSG00000050875
AA Change: G56D

DomainStartEndE-ValueType
Pfam:UPF0258 4 150 6.2e-41 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000175897
AA Change: G88D
SMART Domains Protein: ENSMUSP00000135020
Gene: ENSMUSG00000050875
AA Change: G88D

DomainStartEndE-ValueType
Pfam:UPF0258 25 146 4e-30 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,483 (GRCm39) F23S probably damaging Het
Abcg3 A G 5: 105,096,228 (GRCm39) V528A possibly damaging Het
Adgrv1 A G 13: 81,705,184 (GRCm39) V1542A probably damaging Het
Alkbh3 A G 2: 93,833,396 (GRCm39) probably null Het
Ang4 G T 14: 52,001,636 (GRCm39) T104K probably benign Het
Arhgef3 T A 14: 27,123,876 (GRCm39) C532* probably null Het
Bnip3 G A 7: 138,499,777 (GRCm39) T70I probably benign Het
Cast T C 13: 74,852,311 (GRCm39) E644G possibly damaging Het
Cenpc1 A T 5: 86,194,390 (GRCm39) C125* probably null Het
Crb2 C A 2: 37,683,845 (GRCm39) R1116S probably benign Het
Cyp2c67 T G 19: 39,628,411 (GRCm39) I178L probably damaging Het
Cyp2c68 T A 19: 39,691,871 (GRCm39) M351L probably benign Het
Dusp1 G A 17: 26,725,264 (GRCm39) P365L probably damaging Het
Gatb T C 3: 85,559,652 (GRCm39) L492P probably damaging Het
Igkv8-19 T C 6: 70,318,083 (GRCm39) S48G probably damaging Het
Isyna1 G A 8: 71,047,372 (GRCm39) V32I probably damaging Het
Itgb6 T A 2: 60,441,726 (GRCm39) N695Y possibly damaging Het
Klra8 T C 6: 130,092,561 (GRCm39) T247A probably benign Het
Mak G A 13: 41,206,853 (GRCm39) probably benign Het
Mndal T A 1: 173,685,022 (GRCm39) T516S possibly damaging Het
Mphosph9 G T 5: 124,400,084 (GRCm39) T939K probably damaging Het
Nfrkb A G 9: 31,325,667 (GRCm39) T1037A possibly damaging Het
Or2m13 C T 16: 19,226,333 (GRCm39) M145I probably benign Het
Or8c9 A G 9: 38,240,999 (GRCm39) T39A probably benign Het
Pard3b A G 1: 62,676,799 (GRCm39) Y1011C probably damaging Het
Parm1 G A 5: 91,760,877 (GRCm39) V250M probably damaging Het
Pgap2 T G 7: 101,875,489 (GRCm39) M1R probably null Het
Phlpp2 T C 8: 110,663,729 (GRCm39) F923L probably benign Het
Polr1a T A 6: 71,925,470 (GRCm39) M739K probably benign Het
Pramel1 A G 4: 143,123,955 (GRCm39) Y210C probably benign Het
Pramel27 A T 4: 143,579,846 (GRCm39) Y477F probably benign Het
Raver2 A G 4: 100,977,780 (GRCm39) probably benign Het
Rb1cc1 C T 1: 6,320,333 (GRCm39) L1251F probably benign Het
Ros1 T A 10: 52,042,238 (GRCm39) Y238F probably damaging Het
Shroom3 T C 5: 93,088,852 (GRCm39) L534P probably benign Het
Tjp1 A T 7: 64,952,713 (GRCm39) F1540L possibly damaging Het
Tmem200b C A 4: 131,649,704 (GRCm39) P208Q probably benign Het
Tmem236 T C 2: 14,179,441 (GRCm39) L14P probably damaging Het
Tubgcp6 A T 15: 88,991,728 (GRCm39) I623N probably damaging Het
Vmn1r119 C T 7: 20,746,056 (GRCm39) V109I probably benign Het
Vmn2r98 A G 17: 19,286,020 (GRCm39) N173D probably benign Het
Other mutations in Minar2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Minar2 APN 18 59,205,349 (GRCm39) missense probably damaging 0.98
IGL01621:Minar2 APN 18 59,195,458 (GRCm39) start codon destroyed probably null 0.27
IGL02546:Minar2 APN 18 59,205,347 (GRCm39) missense probably damaging 0.98
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 2013-10-07