Mutagenetix > Incidental Mutations

Incidental Mutation 'R3162:Mill2'

271682

Institutional Source

Beutler Lab

Gene Symbol

Mill2

Ensembl Gene

ENSMUSG00000040987

Gene Name

MHC I like leukocyte 2

Synonyms

MMRRC Submission

040613-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R3162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18839966-18865402 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 18856174 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 127 (E127A)

Ref Sequence

ENSEMBL: ENSMUSP00000154268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072386] [ENSMUST00000072415] [ENSMUST00000206487] [ENSMUST00000227379] [ENSMUST00000228493]

Predicted Effect

probably benign
Transcript: ENSMUST00000072386
AA Change: E127A

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000072223
Gene: ENSMUSG00000040987
AA Change: E127A

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000072415
AA Change: E112A

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000072246
Gene: ENSMUSG00000040987
AA Change: E112A

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000227379
AA Change: E112A

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000228493
AA Change: E127A

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 63,896,490		probably benign	Het
1700074P13Rik	A	G	6: 40,926,069	M123T	probably benign	Het
4933412E24Rik	T	A	15: 60,016,285	E102V	probably damaging	Het
Adcy9	A	G	16: 4,311,588	L715P	probably damaging	Het
Adgre4	T	C	17: 55,802,218		probably benign	Het
Amer2	A	G	14: 60,378,551	D65G	probably damaging	Het
Atad2b	C	A	12: 4,939,689	N133K	possibly damaging	Het
AW551984	C	A	9: 39,593,029	R547L	probably damaging	Het
B3galt6	A	G	4: 155,992,007	Y204H	probably benign	Het
Btnl2	T	C	17: 34,358,065	W65R	probably damaging	Het
Camk1g	T	C	1: 193,359,807	T45A	possibly damaging	Het
Caps2	C	A	10: 112,182,486	Y180*	probably null	Het
Ccdc181	T	A	1: 164,280,296	S183T	probably damaging	Het
Cdc14b	A	G	13: 64,246,608		probably benign	Het
Cep350	T	C	1: 155,863,164	H2311R	probably benign	Het
Cfap54	T	A	10: 93,045,278	K349N	probably damaging	Het
Copa	T	A	1: 172,091,233	C127S	probably damaging	Het
Crbn	T	C	6: 106,790,866	Q221R	probably benign	Het
Dapk2	T	G	9: 66,254,611	V267G	probably damaging	Het
Ddb1	T	C	19: 10,625,971	L881P	probably damaging	Het
Decr1	T	A	4: 15,930,972	D120V	probably damaging	Het
Dennd1c	C	T	17: 57,066,562	G637D	possibly damaging	Het
Dhrs3	A	G	4: 144,919,446	D108G	possibly damaging	Het
Disp1	T	C	1: 183,087,242	K1205E	probably benign	Het
Dnajc13	G	T	9: 104,219,898	N510K	possibly damaging	Het
Dusp6	T	C	10: 99,264,082	Y131H	probably damaging	Het
Eif2b2	A	T	12: 85,219,661	M34L	probably benign	Het
Epsti1	A	T	14: 77,974,513		probably benign	Het
Errfi1	G	A	4: 150,867,359	E415K	probably damaging	Het
Ext1	T	C	15: 53,344,604	N254D	possibly damaging	Het
Fam84b	A	T	15: 60,823,447	V150E	probably damaging	Het
Gm7337	A	C	5: 87,851,557		noncoding transcript	Het
Hnrnpu	T	C	1: 178,331,125		probably benign	Het
Hyal3	T	A	9: 107,586,806	C407S	probably damaging	Het
Insr	T	G	8: 3,161,416	N1141T	possibly damaging	Het
Ipo9	T	C	1: 135,409,476	T174A	probably benign	Het
Iqgap1	G	A	7: 80,752,338	A393V	probably benign	Het
Irak2	G	T	6: 113,672,760	A119S	probably benign	Het
Itgb2l	A	G	16: 96,437,389	L70P	probably damaging	Het
Itsn1	C	A	16: 91,853,044	S202*	probably null	Het
Ivd	T	C	2: 118,862,169		probably null	Het
Leprot	C	T	4: 101,657,893	T89I	probably damaging	Het
Msh6	T	C	17: 87,985,481	Y555H	probably damaging	Het
Myo18b	A	C	5: 112,692,728	S2400A	probably damaging	Het
Naa25	A	G	5: 121,435,072		probably null	Het
Nop2	A	G	6: 125,134,592	N96S	probably benign	Het
Nup155	G	T	15: 8,148,383	R1083S	possibly damaging	Het
Nusap1	A	T	2: 119,630,404	Q126L	possibly damaging	Het
Olfr1042	T	C	2: 86,160,095	I92V	probably benign	Het
Olfr1263	T	G	2: 90,015,021	Y30*	probably null	Het
Olfr1351	C	A	10: 79,017,604	T94N	probably benign	Het
Olfr156	T	A	4: 43,820,544	K272N	probably benign	Het
Olfr30	T	C	11: 58,455,227	T241A	probably damaging	Het
Olfr739	T	A	14: 50,425,031	C171S	probably damaging	Het
Olfr986	G	T	9: 40,187,605	Q163H	probably benign	Het
Pde5a	T	A	3: 122,781,628	L356*	probably null	Het
Pdik1l	A	G	4: 134,284,250	L94S	probably damaging	Het
Pkdrej	T	A	15: 85,816,617	D1706V	probably damaging	Het
Pkhd1l1	A	G	15: 44,505,528	I856M	probably damaging	Het
Prkcz	A	T	4: 155,290,524	D114E	probably benign	Het
Psap	T	C	10: 60,277,753	L4P	possibly damaging	Het
Ptprk	T	C	10: 28,592,826	V1402A	probably benign	Het
Rai14	T	C	15: 10,633,164	T47A	possibly damaging	Het
Ralgapa1	A	T	12: 55,709,586	N1075K	probably damaging	Het
Rlf	A	G	4: 121,148,847	S979P	probably damaging	Het
Rps2	G	T	17: 24,720,978	A129S	probably benign	Het
Serinc2	A	G	4: 130,260,735	S175P	probably benign	Het
Skiv2l	C	T	17: 34,847,813	W88*	probably null	Het
Socs5	A	T	17: 87,134,718	Q362L	probably damaging	Het
Srbd1	A	T	17: 86,130,215	D233E	probably benign	Het
Srgap3	A	G	6: 112,729,658	V826A	probably benign	Het
Tacr2	A	G	10: 62,265,245	D378G	probably benign	Het
Taok2	A	G	7: 126,875,175	I294T	possibly damaging	Het
Tert	A	G	13: 73,627,409	E93G	possibly damaging	Het
Tns2	A	G	15: 102,113,336	E1118G	possibly damaging	Het
Topaz1	T	C	9: 122,749,381	I452T	probably benign	Het
Trak1	C	T	9: 121,451,734		probably benign	Het
Ttc22	A	T	4: 106,623,079	I177F	probably damaging	Het
Tuba8	A	G	6: 121,222,738	D127G	possibly damaging	Het
Tulp4	A	G	17: 6,198,708	M1V	probably null	Het
Urb1	A	G	16: 90,797,903	L247P	probably damaging	Het
Usp32	A	G	11: 85,025,536	W861R	probably damaging	Het
Vmn1r48	G	A	6: 90,036,378	T155I	probably benign	Het
Vmn2r117	A	G	17: 23,460,378	L624P	probably damaging	Het
Vmn2r86	T	C	10: 130,455,804	R31G	probably damaging	Het
Vstm5	T	G	9: 15,257,298	S53A	probably benign	Het
Wnt5a	T	C	14: 28,522,488	Y231H	probably benign	Het
Yeats2	T	C	16: 20,193,645	V531A	probably damaging	Het
Zw10	T	C	9: 49,077,560	Y709H	probably damaging	Het

Other mutations in Mill2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01861:Mill2	APN	7	18856640	missense	probably damaging	0.98
IGL02465:Mill2	APN	7	18858243	nonsense	probably null
IGL02876:Mill2	APN	7	18856507	missense	probably damaging	1.00
R1725:Mill2	UTSW	7	18840068	missense	probably benign	0.04
R1945:Mill2	UTSW	7	18841494	missense	probably benign	0.00
R1964:Mill2	UTSW	7	18856604	missense	probably damaging	1.00
R2260:Mill2	UTSW	7	18856488	missense	probably benign	0.14
R3160:Mill2	UTSW	7	18856174	missense	probably benign	0.32
R4302:Mill2	UTSW	7	18856531	missense	probably damaging	0.98
R4946:Mill2	UTSW	7	18856683	critical splice donor site	probably null
R5121:Mill2	UTSW	7	18856666	missense	probably benign	0.39
R5365:Mill2	UTSW	7	18858414	missense	probably benign	0.01
R5557:Mill2	UTSW	7	18855959	nonsense	probably null
R5736:Mill2	UTSW	7	18858249	missense	probably benign	0.01
R5998:Mill2	UTSW	7	18840064	missense	probably benign	0.00
R6004:Mill2	UTSW	7	18856538	missense	probably benign	0.32
R6016:Mill2	UTSW	7	18856448	missense	probably benign	0.45
R6045:Mill2	UTSW	7	18856564	missense	probably benign	0.01
R6534:Mill2	UTSW	7	18856596	missense	possibly damaging	0.91
R6913:Mill2	UTSW	7	18856426	missense	probably null	1.00
R7386:Mill2	UTSW	7	18858290	missense	probably benign	0.16
Z1088:Mill2	UTSW	7	18856399	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CCACACTCTGCGCTATAATGTC -3'
(R):5'- TCAGCCTAGAAGGGACTATCC -3'

Sequencing Primer
(F):5'- TGCGCTATAATGTCAGAGCC -3'
(R):5'- CTAGAAGGGACTATCCAGTGCTCTG -3'

Posted On

2015-03-25