Incidental Mutation 'R5557:Mill2'
ID 435454
Institutional Source Beutler Lab
Gene Symbol Mill2
Ensembl Gene ENSMUSG00000040987
Gene Name MHC I like leukocyte 2
Synonyms
MMRRC Submission 043114-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R5557 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 18573891-18599327 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 18589884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 55 (Y55*)
Ref Sequence ENSEMBL: ENSMUSP00000154268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072386] [ENSMUST00000072415] [ENSMUST00000206487] [ENSMUST00000227379] [ENSMUST00000228493]
AlphaFold Q8HWE5
Predicted Effect probably null
Transcript: ENSMUST00000072386
AA Change: Y55*
SMART Domains Protein: ENSMUSP00000072223
Gene: ENSMUSG00000040987
AA Change: Y55*

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:MHC_I_3 39 224 2.5e-14 PFAM
Pfam:MHC_I 49 225 1.5e-33 PFAM
IGc1 244 316 7.82e-6 SMART
low complexity region 332 354 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000072415
AA Change: Y40*
SMART Domains Protein: ENSMUSP00000072246
Gene: ENSMUSG00000040987
AA Change: Y40*

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:MHC_I 34 210 5.9e-33 PFAM
IGc1 229 301 7.82e-6 SMART
low complexity region 317 339 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207014
Predicted Effect probably null
Transcript: ENSMUST00000227379
AA Change: Y40*
Predicted Effect probably null
Transcript: ENSMUST00000228493
AA Change: Y55*
Meta Mutation Damage Score 0.9640 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a heavily glycosylated protein which is a ligand for the NKG2D type II receptor. Binding of the ligand activates the cytolytic response of natural killer (NK) cells, CD8 alphabeta T cells, and gammadelta T cells which express the receptor. This protein is stress-induced and is similar to MHC class I molecules; however, it does not associate with beta-2-microglobulin or bind peptides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T A 19: 3,767,501 (GRCm39) F363I possibly damaging Het
Abcb1a T A 5: 8,764,949 (GRCm39) N646K probably benign Het
Abi2 C A 1: 60,478,071 (GRCm39) probably benign Het
Adamts13 T C 2: 26,863,651 (GRCm39) S35P probably benign Het
B4galt3 A G 1: 171,100,089 (GRCm39) probably null Het
Bag5 T C 12: 111,676,524 (GRCm39) N433S probably benign Het
Birc7 T A 2: 180,574,772 (GRCm39) V218D probably benign Het
Catsperg1 T G 7: 28,895,296 (GRCm39) N332T possibly damaging Het
Ccdc191 A C 16: 43,728,976 (GRCm39) T179P probably damaging Het
Col4a3 C T 1: 82,692,968 (GRCm39) probably benign Het
Crlf1 A G 8: 70,951,317 (GRCm39) I65M probably benign Het
Dennd4a T G 9: 64,811,509 (GRCm39) D1376E probably benign Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dlg4 C T 11: 69,933,106 (GRCm39) P504L probably damaging Het
Dop1b A G 16: 93,560,819 (GRCm39) T886A probably damaging Het
Dst T A 1: 34,321,667 (GRCm39) V4394E probably damaging Het
Endov T C 11: 119,393,186 (GRCm39) M112T possibly damaging Het
Eps8 T C 6: 137,456,094 (GRCm39) M796V possibly damaging Het
Fam107b T A 2: 3,771,791 (GRCm39) Y7* probably null Het
Farsb C T 1: 78,445,888 (GRCm39) probably null Het
Fasn A G 11: 120,703,252 (GRCm39) M1591T probably benign Het
Fbn2 C T 18: 58,248,731 (GRCm39) A384T probably benign Het
Fnta T C 8: 26,489,564 (GRCm39) D349G probably damaging Het
Glis3 G T 19: 28,241,409 (GRCm39) H842N probably benign Het
Gm17067 G A 7: 42,357,945 (GRCm39) P186S probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hk3 A T 13: 55,159,888 (GRCm39) L362* probably null Het
Ing3 A G 6: 21,968,908 (GRCm39) H130R possibly damaging Het
Inpp4b A T 8: 82,678,888 (GRCm39) Q306L probably damaging Het
Kcnq2 T C 2: 180,776,690 (GRCm39) K66E probably benign Het
Kif21b C A 1: 136,097,797 (GRCm39) N1352K probably damaging Het
Lrig3 A T 10: 125,808,003 (GRCm39) N84Y probably damaging Het
Mmachc T C 4: 116,563,097 (GRCm39) H86R probably damaging Het
Ncbp1 T C 4: 46,165,259 (GRCm39) V524A probably benign Het
Or10ag54 A T 2: 87,099,736 (GRCm39) T204S possibly damaging Het
Or1q1 T A 2: 36,887,358 (GRCm39) C179S probably damaging Het
Or4c102 G A 2: 88,422,897 (GRCm39) V250M probably damaging Het
Or5af1 G A 11: 58,722,813 (GRCm39) V278I probably benign Het
Or5b101 C A 19: 13,005,004 (GRCm39) A230S probably benign Het
Or7g19 T C 9: 18,856,466 (GRCm39) I174T possibly damaging Het
Pigu G T 2: 155,120,549 (GRCm39) Y404* probably null Het
Plaa A T 4: 94,472,244 (GRCm39) probably null Het
Plcg2 A T 8: 118,313,296 (GRCm39) I487F probably damaging Het
Plekhh2 T C 17: 84,867,580 (GRCm39) I162T probably benign Het
Ptprz1 T A 6: 23,001,000 (GRCm39) V1030D probably benign Het
Raver2 C A 4: 100,993,336 (GRCm39) S505R probably benign Het
Samd7 A T 3: 30,810,769 (GRCm39) Q262L probably benign Het
Scn9a T A 2: 66,377,447 (GRCm39) N412Y probably damaging Het
Sytl1 C A 4: 132,986,667 (GRCm39) R91M probably damaging Het
Tead3 A T 17: 28,555,244 (GRCm39) probably benign Het
Tgm1 A G 14: 55,943,100 (GRCm39) M580T probably benign Het
Themis A T 10: 28,657,882 (GRCm39) Q150L possibly damaging Het
Tmem213 T C 6: 38,086,466 (GRCm39) S41P possibly damaging Het
Tnks1bp1 T C 2: 84,894,144 (GRCm39) V695A probably damaging Het
Trim23 A T 13: 104,324,017 (GRCm39) T159S probably damaging Het
Trim66 T C 7: 109,082,944 (GRCm39) Y166C probably benign Het
Troap A T 15: 98,973,675 (GRCm39) T111S possibly damaging Het
Ttn T C 2: 76,720,734 (GRCm39) probably null Het
Tub T G 7: 108,624,925 (GRCm39) S180A probably damaging Het
Vcan A G 13: 89,851,231 (GRCm39) V1243A possibly damaging Het
Zfp608 T C 18: 55,120,942 (GRCm39) D215G possibly damaging Het
Zfp638 T A 6: 83,944,345 (GRCm39) V1021E probably damaging Het
Zim1 T A 7: 6,680,710 (GRCm39) I318F probably damaging Het
Other mutations in Mill2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01861:Mill2 APN 7 18,590,565 (GRCm39) missense probably damaging 0.98
IGL02465:Mill2 APN 7 18,592,168 (GRCm39) nonsense probably null
IGL02876:Mill2 APN 7 18,590,432 (GRCm39) missense probably damaging 1.00
R1725:Mill2 UTSW 7 18,573,993 (GRCm39) missense probably benign 0.04
R1945:Mill2 UTSW 7 18,575,419 (GRCm39) missense probably benign 0.00
R1964:Mill2 UTSW 7 18,590,529 (GRCm39) missense probably damaging 1.00
R2260:Mill2 UTSW 7 18,590,413 (GRCm39) missense probably benign 0.14
R3160:Mill2 UTSW 7 18,590,099 (GRCm39) missense probably benign 0.32
R3162:Mill2 UTSW 7 18,590,099 (GRCm39) missense probably benign 0.32
R4302:Mill2 UTSW 7 18,590,456 (GRCm39) missense probably damaging 0.98
R4946:Mill2 UTSW 7 18,590,608 (GRCm39) critical splice donor site probably null
R5121:Mill2 UTSW 7 18,590,591 (GRCm39) missense probably benign 0.39
R5365:Mill2 UTSW 7 18,592,339 (GRCm39) missense probably benign 0.01
R5736:Mill2 UTSW 7 18,592,174 (GRCm39) missense probably benign 0.01
R5998:Mill2 UTSW 7 18,573,989 (GRCm39) missense probably benign 0.00
R6004:Mill2 UTSW 7 18,590,463 (GRCm39) missense probably benign 0.32
R6016:Mill2 UTSW 7 18,590,373 (GRCm39) missense probably benign 0.45
R6045:Mill2 UTSW 7 18,590,489 (GRCm39) missense probably benign 0.01
R6534:Mill2 UTSW 7 18,590,521 (GRCm39) missense possibly damaging 0.91
R6913:Mill2 UTSW 7 18,590,351 (GRCm39) missense probably null 1.00
R7386:Mill2 UTSW 7 18,592,215 (GRCm39) missense probably benign 0.16
R8898:Mill2 UTSW 7 18,590,489 (GRCm39) missense probably benign 0.01
R9229:Mill2 UTSW 7 18,590,475 (GRCm39) missense probably damaging 0.96
R9291:Mill2 UTSW 7 18,575,416 (GRCm39) missense probably benign 0.00
R9428:Mill2 UTSW 7 18,573,950 (GRCm39) nonsense probably null
Z1088:Mill2 UTSW 7 18,590,324 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TGTCTTCAACAGAAAATTCTCACCC -3'
(R):5'- TGTTAGTCTCTCTTGCACAGGT -3'

Sequencing Primer
(F):5'- CTTTGCCTAGGAAGAAAGTTGC -3'
(R):5'- ACAGGTCTCATTTCCCCCATGG -3'
Posted On 2016-10-24