Mutagenetix > Incidental Mutation

Incidental Mutation 'R9420:H2-M2'

712305

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

Accession Numbers

Essential gene?

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

Stock #

R9420 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37791742-37794443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37792215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 312 (I312F)

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

probably benign
Transcript: ENSMUST00000171139
AA Change: I312F

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131297
Gene: ENSMUSG00000016283
AA Change: I312F

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,912,277 (GRCm39)	I56T	probably benign	Het
Adissp	T	C	2: 130,993,682 (GRCm39)		probably null	Het
Akr1c12	A	G	13: 4,325,796 (GRCm39)	L99S	probably damaging	Het
Azin1	C	A	15: 38,493,871 (GRCm39)	V251F	possibly damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
C2cd3	A	T	7: 100,065,262 (GRCm39)	M305L		Het
Casz1	A	G	4: 149,023,320 (GRCm39)	T742A	probably damaging	Het
Cbfa2t2	A	G	2: 154,352,426 (GRCm39)		probably null	Het
Clec2e	T	A	6: 129,071,420 (GRCm39)	Y139F	possibly damaging	Het
Crisp2	T	A	17: 41,094,724 (GRCm39)	N117I	possibly damaging	Het
Ddx52	A	T	11: 83,833,008 (GRCm39)	D2V	probably damaging	Het
Dmpk	T	A	7: 18,824,946 (GRCm39)	V442E	probably benign	Het
Dnah2	A	T	11: 69,368,942 (GRCm39)	M1654K	probably benign	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,739,935 (GRCm39)		probably benign	Het
Erlec1	A	G	11: 30,885,054 (GRCm39)	V411A	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Fry	A	G	5: 150,356,994 (GRCm39)	E1847G	possibly damaging	Het
Gck	A	G	11: 5,899,553 (GRCm39)		probably null	Het
Gga2	T	C	7: 121,603,195 (GRCm39)	D167G	probably damaging	Het
Gprc6a	A	G	10: 51,491,506 (GRCm39)	S748P	probably damaging	Het
H2-M10.2	T	C	17: 36,595,643 (GRCm39)	R216G	probably benign	Het
Havcr2	A	T	11: 46,347,350 (GRCm39)	Y109F	probably damaging	Het
Hoga1	T	C	19: 42,048,333 (GRCm39)	V67A		Het
Ift70b	T	A	2: 75,768,391 (GRCm39)	I121F	possibly damaging	Het
Kcnk12	C	A	17: 88,104,507 (GRCm39)	V126L	possibly damaging	Het
Klc1	A	G	12: 111,738,950 (GRCm39)	E66G	probably damaging	Het
Klhl2	A	T	8: 65,205,870 (GRCm39)	Y350*	probably null	Het
Letm1	T	C	5: 33,926,802 (GRCm39)	H165R	probably damaging	Het
Luc7l2	T	C	6: 38,547,489 (GRCm39)	C36R	probably damaging	Het
Mab21l1	A	G	3: 55,690,674 (GRCm39)	N87S	probably damaging	Het
Mdn1	A	G	4: 32,678,414 (GRCm39)	T681A	probably damaging	Het
Mrc1	C	T	2: 14,312,790 (GRCm39)	T904I	possibly damaging	Het
Mrpl38	A	G	11: 116,023,276 (GRCm39)	S326P	probably damaging	Het
Mtr	T	G	13: 12,268,764 (GRCm39)	K32N	probably benign	Het
Mybpc3	T	A	2: 90,965,478 (GRCm39)	C1128*	probably null	Het
Ncdn	T	C	4: 126,645,762 (GRCm39)	D49G	probably damaging	Het
Nfkbiz	G	A	16: 55,642,337 (GRCm39)	T27I	probably damaging	Het
Npnt	A	T	3: 132,653,866 (GRCm39)	Y38*	probably null	Het
Nrxn2	A	G	19: 6,581,931 (GRCm39)	E1622G	probably benign	Het
Nutm2	T	C	13: 50,626,964 (GRCm39)	I373T	probably damaging	Het
Or4c58	T	C	2: 89,674,715 (GRCm39)	I201V	probably benign	Het
Or51m1	T	C	7: 103,578,980 (GRCm39)	S317P	possibly damaging	Het
Osbp2	A	G	11: 3,662,170 (GRCm39)	S228P	probably damaging	Het
Pbx3	C	T	2: 34,103,348 (GRCm39)	R208Q	probably damaging	Het
Pcdhgb5	T	C	18: 37,864,838 (GRCm39)	V211A	probably benign	Het
Pi16	C	T	17: 29,544,899 (GRCm39)	T151M	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Ptpro	T	C	6: 137,420,933 (GRCm39)	I1068T	probably benign	Het
Rbl1	A	T	2: 157,035,154 (GRCm39)	Y309N	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,134 (GRCm39)		probably benign	Het
Serpina3g	G	C	12: 104,206,518 (GRCm39)	E106D	probably benign	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Son	G	C	16: 91,454,508 (GRCm39)	R1085P	probably damaging	Het
Tasor	A	T	14: 27,163,927 (GRCm39)	I238F	probably damaging	Het
Tbx18	C	A	9: 87,612,675 (GRCm39)	A75S	probably benign	Het
Tmem232	C	A	17: 65,792,881 (GRCm39)	Q105H	probably damaging	Het
Ttc29	A	G	8: 79,060,390 (GRCm39)	I437V	probably benign	Het
Ttn	T	A	2: 76,621,887 (GRCm39)	I15552L	probably damaging	Het
Ttn	T	A	2: 76,750,313 (GRCm39)	T3579S	probably benign	Het
Vps11	A	G	9: 44,267,719 (GRCm39)	F298L	probably benign	Het
Wbp11	T	C	6: 136,791,259 (GRCm39)	T625A	unknown	Het
Xylb	T	A	9: 119,215,428 (GRCm39)	N460K	probably damaging	Het
Znrf4	C	A	17: 56,819,218 (GRCm39)	V30F	probably 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
R0981:H2-M2	UTSW	17	37,793,521 (GRCm39)	missense	probably benign	0.02
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
R9487:H2-M2	UTSW	17	37,793,424 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ATAATGGGCCACACTCCTTC -3'
(R):5'- TTCTGGGAAGGAGCAGAATTAC -3'

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

Posted On

2022-05-16