Mutagenetix > Incidental Mutations

Incidental Mutation 'R7680:H2-M2'

592727

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

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R7680 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37480851-37483552 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37483025 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 103 (R103G)

Ref Sequence

ENSEMBL: ENSMUSP00000131297 (fasta)

Gene Model

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

AlphaFold

Q6W9L1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016427
AA Change: R103G

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000016427
Gene: ENSMUSG00000016283
AA Change: R103G

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: R103G

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131297
Gene: ENSMUSG00000016283
AA Change: R103G

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: 99.6%
20x: 98.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,839,208	D104G	possibly damaging	Het
Ahi1	G	T	10: 21,007,768	C844F	possibly damaging	Het
AI464131	C	A	4: 41,497,978	D551Y	probably damaging	Het
B230118H07Rik	T	C	2: 101,610,556	E34G	probably damaging	Het
Bspry	T	C	4: 62,496,591	*474Q	probably null	Het
Car9	T	A	4: 43,507,250	D65E	probably damaging	Het
Ccdc110	T	A	8: 45,941,651	M193K	possibly damaging	Het
Ccdc166	A	G	15: 75,981,207	S304P	possibly damaging	Het
Cdcp1	T	C	9: 123,183,519	Q321R	probably damaging	Het
Cic	T	C	7: 25,292,431	V2255A	probably damaging	Het
Cmc2	A	T	8: 116,894,110	M44K	probably damaging	Het
Crls1	A	G	2: 132,862,338	T223A	probably damaging	Het
Ctnna3	A	T	10: 64,487,550	H488L	probably benign	Het
Cyp2r1	A	T	7: 114,552,819	I301N	probably damaging	Het
Dkk3	A	T	7: 112,119,363	L272Q	probably damaging	Het
Dnah14	A	G	1: 181,685,800	N1906S	probably benign	Het
Gm13271	T	C	4: 88,755,130	V88A	probably benign	Het
Gphn	C	A	12: 78,412,374	L79I	probably benign	Het
Gpr15	A	T	16: 58,717,965	W254R	probably damaging	Het
Hcn4	T	C	9: 58,860,671	S1172P	probably benign	Het
Htr1a	A	G	13: 105,445,031	S260G	probably benign	Het
Kif21b	G	T	1: 136,147,869		probably null	Het
Lamp1	T	C	8: 13,167,812	Y131H	probably benign	Het
Lrrc47	A	C	4: 154,016,101	N378T	probably benign	Het
Manea	A	T	4: 26,340,649	H104Q	probably damaging	Het
Map4k3	A	G	17: 80,581,876	I888T	probably benign	Het
Mark3	T	C	12: 111,646,773	M557T	probably benign	Het
Muc6	G	C	7: 141,637,746	P2338R	probably damaging	Het
Myh6	C	A	14: 54,948,733	C1413F	possibly damaging	Het
Ncr1	T	A	7: 4,338,124	M38K	possibly damaging	Het
Nid2	A	G	14: 19,779,647	T669A	probably damaging	Het
Olfr49	T	A	14: 54,282,380	I172F	probably damaging	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Plekha7	A	G	7: 116,164,276	Y364H	probably benign	Het
Plxnb1	T	A	9: 109,100,503	Y142*	probably null	Het
Ptprn	T	C	1: 75,247,893	I940V	probably benign	Het
Rnf213	T	C	11: 119,479,556	V4728A		Het
Samd9l	A	T	6: 3,372,569	L1564Q	probably damaging	Het
Samd9l	A	G	6: 3,376,469	I264T	probably damaging	Het
Slc16a7	T	C	10: 125,230,936	D278G	probably benign	Het
Slc35f2	T	A	9: 53,808,112	V214E	probably damaging	Het
Slc7a5	A	C	8: 121,907,267	S114A	probably damaging	Het
St6galnac3	A	G	3: 153,205,410	S305P	probably damaging	Het
Stat1	G	A	1: 52,144,209	R378Q	probably damaging	Het
Tnfrsf9	T	G	4: 150,929,938	C31W	probably damaging	Het
Tnk1	T	C	11: 69,856,745	E61G	possibly damaging	Het
Tnks1bp1	T	A	2: 85,059,241	D637E	probably benign	Het
Ttc17	C	T	2: 94,366,544	G486D	probably benign	Het
Vmn1r30	T	A	6: 58,435,299	R183*	probably null	Het
Vmn2r78	A	G	7: 86,954,941	T776A	probably damaging	Het
Wrap73	A	G	4: 154,156,622	E444G	probably benign	Het
Zc3h13	C	T	14: 75,330,515	R1083C	probably damaging	Het
Zfp189	A	G	4: 49,521,547		probably benign	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
R3968:H2-M2	UTSW	17	37481306	missense	possibly damaging	0.59
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
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'- AGTTAGTCCCTCCCGCTTAG -3'
(R):5'- AGGAGACCCACTACATGACTG -3'

Sequencing Primer
(F):5'- CCAACCAGATTTGAACCTAAACTG -3'
(R):5'- GACCCACTACATGACTGTTGGC -3'

Posted On

2019-11-12