Mutagenetix > Incidental Mutation

Incidental Mutation 'R0981:H2-M2'

97219

Institutional Source

Beutler Lab

Gene Symbol

H2-M2

Ensembl Gene

ENSMUSG00000016283

Gene Name

histocompatibility 2, M region locus 2

Synonyms

Thy19.4, H-2M2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0981 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37791742-37794443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37793521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 162 (T162A)

Ref Sequence

ENSEMBL: ENSMUSP00000016427 (fasta)

Gene Model

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

AlphaFold

Q6W9L1

Predicted Effect

probably benign
Transcript: ENSMUST00000016427
AA Change: T162A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000016427
Gene: ENSMUSG00000016283
AA Change: T162A

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

probably benign
Transcript: ENSMUST00000171139
AA Change: T162A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000131297
Gene: ENSMUSG00000016283
AA Change: T162A

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

Coding Region Coverage

1x: 99.5%
3x: 98.4%
10x: 95.4%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,831,257 (GRCm39)	C942S	probably damaging	Het
Alpk1	T	C	3: 127,473,051 (GRCm39)	N984S	possibly damaging	Het
Ankrd55	T	C	13: 112,459,610 (GRCm39)	V68A	possibly damaging	Het
Asap2	T	C	12: 21,315,961 (GRCm39)	S960P	probably damaging	Het
Atp2b1	T	A	10: 98,851,491 (GRCm39)	N66K	probably damaging	Het
Cckar	C	T	5: 53,863,632 (GRCm39)	G39R	probably damaging	Het
Cimap1a	A	G	7: 140,428,208 (GRCm39)	M7V	probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Cpb1	C	A	3: 20,329,654 (GRCm39)	R24L	probably benign	Het
Dlg5	T	G	14: 24,204,699 (GRCm39)	R1258S	probably damaging	Het
Fanci	A	G	7: 79,054,914 (GRCm39)	Q148R	probably benign	Het
Fcgbp	T	A	7: 27,784,535 (GRCm39)	Y198*	probably null	Het
Gapt	G	C	13: 110,490,273 (GRCm39)	T130R	probably damaging	Het
Garin5b	T	A	7: 4,760,588 (GRCm39)		probably null	Het
Glis1	A	G	4: 107,472,239 (GRCm39)	E272G	probably damaging	Het
Gm13741	T	C	2: 87,486,578 (GRCm39)	N229S	probably benign	Het
Gsdmc4	T	A	15: 63,763,922 (GRCm39)	I392F	probably damaging	Het
Hk2	G	A	6: 82,720,949 (GRCm39)	R190W	probably damaging	Het
Irf1	T	C	11: 53,664,548 (GRCm39)	*52R	probably null	Het
Lman2l	T	A	1: 36,484,314 (GRCm39)	M1L	unknown	Het
Mgat1	C	T	11: 49,151,882 (GRCm39)	R122C	probably damaging	Het
Mtrf1	T	C	14: 79,639,030 (GRCm39)	L54S	probably benign	Het
Myo5c	A	T	9: 75,178,873 (GRCm39)	L676F	probably damaging	Het
Ofcc1	A	G	13: 40,226,174 (GRCm39)	I786T	probably damaging	Het
Or5p64	AGGT	A	7: 107,855,228 (GRCm39)		probably benign	Het
Or5p64	GGTAG	GG	7: 107,855,229 (GRCm39)		probably benign	Het
Pfn1	G	A	11: 70,542,964 (GRCm39)	R137C	probably benign	Het
Pgbd5	G	A	8: 125,111,032 (GRCm39)	R129*	probably null	Het
Pibf1	T	C	14: 99,388,179 (GRCm39)		probably null	Het
Pkd2l1	A	G	19: 44,142,861 (GRCm39)		probably null	Het
Plin5	C	A	17: 56,421,020 (GRCm39)	R215L	probably damaging	Het
Prrc2c	C	T	1: 162,533,550 (GRCm39)		probably benign	Het
Rnasel	T	G	1: 153,635,345 (GRCm39)	C608G	probably benign	Het
Slc28a2	T	A	2: 122,281,465 (GRCm39)	V218D	probably damaging	Het
Snx1	T	C	9: 66,016,841 (GRCm39)	I29V	probably benign	Het
Tenm3	A	G	8: 48,752,000 (GRCm39)	W939R	probably damaging	Het
Tmem237	C	A	1: 59,157,164 (GRCm39)	R15L	probably damaging	Het
Tmx3	T	C	18: 90,555,324 (GRCm39)	V347A	probably benign	Het
Vmn1r191	T	C	13: 22,363,389 (GRCm39)	T122A	probably benign	Het
Wdfy4	G	T	14: 32,869,049 (GRCm39)	N326K	probably benign	Het
Zfp408	A	G	2: 91,475,528 (GRCm39)	L642P	probably benign	Het
Zfp808	C	A	13: 62,319,487 (GRCm39)	H239N	possibly damaging	Het

Other mutations in H2-M2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01683:H2-M2	APN	17	37,792,406 (GRCm39)	missense	possibly damaging	0.95
Lock	UTSW	17	37,792,399 (GRCm39)	missense	probably damaging	1.00
Nokia	UTSW	17	37,792,197 (GRCm39)	missense	possibly damaging	0.59
R0799:H2-M2	UTSW	17	37,793,640 (GRCm39)	missense	probably damaging	1.00
R1925:H2-M2	UTSW	17	37,793,391 (GRCm39)	missense	probably damaging	0.98
R2959:H2-M2	UTSW	17	37,794,345 (GRCm39)	missense	probably benign	0.20
R3968:H2-M2	UTSW	17	37,792,197 (GRCm39)	missense	possibly damaging	0.59
R4063:H2-M2	UTSW	17	37,792,399 (GRCm39)	missense	probably damaging	1.00
R4735:H2-M2	UTSW	17	37,794,135 (GRCm39)	missense	possibly damaging	0.91
R5806:H2-M2	UTSW	17	37,792,617 (GRCm39)	missense	probably damaging	1.00
R6410:H2-M2	UTSW	17	37,794,104 (GRCm39)	missense	probably damaging	1.00
R7432:H2-M2	UTSW	17	37,792,361 (GRCm39)	critical splice donor site	probably null
R7456:H2-M2	UTSW	17	37,792,552 (GRCm39)	missense	possibly damaging	0.60
R7535:H2-M2	UTSW	17	37,793,528 (GRCm39)	missense	probably benign	0.07
R7680:H2-M2	UTSW	17	37,793,916 (GRCm39)	missense	possibly damaging	0.56
R8112:H2-M2	UTSW	17	37,794,383 (GRCm39)	missense	unknown
R8910:H2-M2	UTSW	17	37,792,413 (GRCm39)	missense	probably damaging	1.00
R9034:H2-M2	UTSW	17	37,792,176 (GRCm39)	missense	probably benign	0.05
R9193:H2-M2	UTSW	17	37,793,428 (GRCm39)	missense	probably benign	0.00
R9420:H2-M2	UTSW	17	37,792,215 (GRCm39)	missense	probably benign	0.08
R9487:H2-M2	UTSW	17	37,793,424 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCTCCCTTCTCAGGAGACATGAGC -3'
(R):5'- GACCAGACACGCATTGCGAAAG -3'

Sequencing Primer
(F):5'- GCTCCAGTTCATTAAGAGGAGTTAC -3'
(R):5'- GTTCAGCCTAAGGCTATGAGACC -3'

Posted On

2014-01-05