Mutagenetix > Incidental Mutations

Incidental Mutation 'R3968:H2-M2'

312460

Institutional Source

Beutler Lab

Gene Symbol

H2-M2

Ensembl Gene

ENSMUSG00000016283

Gene Name

histocompatibility 2, M region locus 2

Synonyms

Thy19.4, H-2M2

MMRRC Submission

040936-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R3968 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37480851-37483552 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37481306 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 318 (G318S)

Ref Sequence

ENSEMBL: ENSMUSP00000131297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016427] [ENSMUST00000171139]

AlphaFold

Q6W9L1

Predicted Effect

probably benign
Transcript: ENSMUST00000016427

SMART Domains

Protein: ENSMUSP00000016427
Gene: ENSMUSG00000016283

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:MHC_I	29	207	1.6e-77	PFAM
IGc1	226	297	2.11e-20	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171139
AA Change: G318S

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131297
Gene: ENSMUSG00000016283
AA Change: G318S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:MHC_I	29	207	7.1e-76	PFAM
IGc1	226	297	2.11e-20	SMART
transmembrane domain	308	330	N/A	INTRINSIC

Meta Mutation Damage Score

0.3208

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.1%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef12	C	A	9: 43,005,551	R432L	probably damaging	Het
Camk4	T	A	18: 33,179,581	I258N	possibly damaging	Het
Cdhr2	A	T	13: 54,726,458	N781I	probably damaging	Het
Cela1	C	T	15: 100,684,653	G93S	probably damaging	Het
Commd9	C	A	2: 101,897,141	N93K	probably benign	Het
Cysltr2	A	G	14: 73,030,174	I32T	probably damaging	Het
E2f1	C	G	2: 154,564,022	G144R	probably damaging	Het
Fcho2	A	T	13: 98,735,056	S551T	probably benign	Het
Fzd8	T	C	18: 9,214,070	V384A	probably damaging	Het
Gm14401	T	C	2: 177,086,996	Y292H	possibly damaging	Het
Il21r	G	T	7: 125,628,043		probably null	Het
Itgam	T	C	7: 128,113,033	Y697H	probably damaging	Het
Itpkb	A	T	1: 180,327,798		probably benign	Het
Lama3	A	T	18: 12,580,341	K3230M	probably damaging	Het
Ly75	T	C	2: 60,327,873	I1023V	possibly damaging	Het
Narf	A	T	11: 121,238,421	E10D	possibly damaging	Het
Net1	A	G	13: 3,907,795		probably null	Het
Nlrx1	A	T	9: 44,255,425		probably benign	Het
Oard1	T	C	17: 48,415,254	Y93H	probably damaging	Het
Olfr722	A	T	14: 49,895,526	I92N	probably damaging	Het
Olfr921	A	G	9: 38,775,368	T38A	probably benign	Het
Pcm1	T	C	8: 41,325,830	L1825P	probably damaging	Het
Pecr	G	A	1: 72,276,309	T94I	probably damaging	Het
Piezo2	A	T	18: 63,011,696	V2776E	probably damaging	Het
Pik3r2	G	A	8: 70,770,421	R452C	probably benign	Het
Ppfia2	T	A	10: 106,906,521	D1058E	probably damaging	Het
Ppl	T	C	16: 5,100,332		probably null	Het
Rab39	G	A	9: 53,686,632	A111V	possibly damaging	Het
Sema3g	T	C	14: 31,226,521		probably null	Het
Slc19a1	T	C	10: 77,041,846	Y72H	probably damaging	Het
Sntb2	T	A	8: 106,997,140	Y340*	probably null	Het
Srrm4	A	G	5: 116,444,744		probably benign	Het
Ssb	C	T	2: 69,867,449		probably benign	Het
Sval2	T	A	6: 41,861,927	V14E	probably damaging	Het
Tmc2	T	G	2: 130,202,071	V75G	probably benign	Het
Tnnc2	T	C	2: 164,777,537	E129G	possibly damaging	Het
Vmn2r94	C	A	17: 18,258,385	Q33H	possibly damaging	Het
Yap1	C	T	9: 7,973,876	R188Q	probably damaging	Het

Other mutations in H2-M2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01683:H2-M2	APN	17	37481515	missense	possibly damaging	0.95
Lock	UTSW	17	37481508	missense	probably damaging	1.00
Nokia	UTSW	17	37481306	missense	possibly damaging	0.59
R0799:H2-M2	UTSW	17	37482749	missense	probably damaging	1.00
R0981:H2-M2	UTSW	17	37482630	missense	probably benign	0.02
R1925:H2-M2	UTSW	17	37482500	missense	probably damaging	0.98
R2959:H2-M2	UTSW	17	37483454	missense	probably benign	0.20
R4063:H2-M2	UTSW	17	37481508	missense	probably damaging	1.00
R4735:H2-M2	UTSW	17	37483244	missense	possibly damaging	0.91
R5806:H2-M2	UTSW	17	37481726	missense	probably damaging	1.00
R6410:H2-M2	UTSW	17	37483213	missense	probably damaging	1.00
R7432:H2-M2	UTSW	17	37481470	critical splice donor site	probably null
R7456:H2-M2	UTSW	17	37481661	missense	possibly damaging	0.60
R7535:H2-M2	UTSW	17	37482637	missense	probably benign	0.07
R7680:H2-M2	UTSW	17	37483025	missense	possibly damaging	0.56
R8112:H2-M2	UTSW	17	37483492	missense	unknown
R8910:H2-M2	UTSW	17	37481522	missense	probably damaging	1.00
R9034:H2-M2	UTSW	17	37481285	missense	probably benign	0.05
R9193:H2-M2	UTSW	17	37482537	missense	probably benign	0.00
R9420:H2-M2	UTSW	17	37481324	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CTTTGGGAATAATGGGCCACAC -3'
(R):5'- GGAGCAGAATTACACATGCCATG -3'

Sequencing Primer
(F):5'- GGAATAATGGGCCACACTCCTTC -3'
(R):5'- TCATGAGGGACTGCCTGAG -3'

Posted On

2015-04-29