Mutagenetix > Incidental Mutation

Incidental Mutation 'R1882:H2-DMb2'

209206

Institutional Source

Beutler Lab

Gene Symbol

H2-DMb2

Ensembl Gene

ENSMUSG00000037548

Gene Name

histocompatibility 2, class II, locus Mb2

Synonyms

H2-M beta2, H-2Mb2, H2-Mb2

MMRRC Submission

039903-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R1882 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34362281-34370529 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34366834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 89 (R89C)

Ref Sequence

ENSEMBL: ENSMUSP00000043526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041982] [ENSMUST00000171231]

AlphaFold

Q31099

PDB Structure

CRYSTAL STRUCTURE OF MOUSE H2-DM [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000041982
AA Change: R89C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043526
Gene: ENSMUSG00000037548
AA Change: R89C

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
MHC_II_beta	27	105	7.87e-27	SMART
IGc1	130	202	9.6e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171231

SMART Domains

Protein: ENSMUSP00000126533
Gene: ENSMUSG00000037548

Domain	Start	End	E-Value	Type
IGc1	2	71	6.48e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173262

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.6%
20x: 93.5%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,786,945 (GRCm39)	S189P	probably benign	Het
Adgrg3	G	T	8: 95,766,943 (GRCm39)	V433F	probably benign	Het
Arhgap33	A	T	7: 30,222,234 (GRCm39)	W1233R	probably damaging	Het
Brf2	T	C	8: 27,618,577 (GRCm39)	D9G	probably damaging	Het
Btrc	G	A	19: 45,515,839 (GRCm39)	R562Q	probably damaging	Het
Cenpu	T	C	8: 47,009,225 (GRCm39)	F67L	probably damaging	Het
Chia1	T	C	3: 106,035,790 (GRCm39)	M150T	probably damaging	Het
Cntln	A	G	4: 85,019,072 (GRCm39)	E1254G	probably damaging	Het
Creld1	G	A	6: 113,469,166 (GRCm39)	C332Y	probably damaging	Het
Ctla2a	A	G	13: 61,083,355 (GRCm39)		probably benign	Het
Dusp13b	A	T	14: 21,785,043 (GRCm39)	D223E	probably benign	Het
Ext1	C	A	15: 52,939,188 (GRCm39)	L620F	probably damaging	Het
Klhl32	A	T	4: 24,743,916 (GRCm39)	L17*	probably null	Het
Lats2	C	T	14: 57,934,811 (GRCm39)	V640M	probably damaging	Het
Lrig3	G	A	10: 125,845,694 (GRCm39)	V708I	possibly damaging	Het
Mtcl1	T	C	17: 66,686,315 (GRCm39)	T415A	probably benign	Het
Mynn	A	G	3: 30,670,962 (GRCm39)	*611W	probably null	Het
Nfx1	A	G	4: 41,009,240 (GRCm39)	T793A	possibly damaging	Het
Nlrp4d	T	C	7: 10,116,604 (GRCm39)		noncoding transcript	Het
Nos3	T	C	5: 24,573,818 (GRCm39)	V194A	probably damaging	Het
Npc1l1	C	T	11: 6,167,473 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,154,150 (GRCm39)	D589G	probably damaging	Het
Omg	C	T	11: 79,392,545 (GRCm39)		probably benign	Het
Or10v9	T	C	19: 11,832,835 (GRCm39)	T161A	probably damaging	Het
Or14j5	T	C	17: 38,161,839 (GRCm39)	S119P	probably damaging	Het
Or2y17	A	G	11: 49,231,539 (GRCm39)	Y60C	probably damaging	Het
Or8k16	T	A	2: 85,519,950 (GRCm39)	M59K	probably damaging	Het
P2ry2	G	T	7: 100,648,058 (GRCm39)	Y82*	probably null	Het
Pcdh1	T	C	18: 38,335,895 (GRCm39)	T247A	possibly damaging	Het
Pecr	A	T	1: 72,314,136 (GRCm39)		probably null	Het
Pgm3	A	G	9: 86,447,743 (GRCm39)	Y167H	possibly damaging	Het
Pramel15	A	T	4: 144,103,485 (GRCm39)	C214S	probably benign	Het
Prmt2	T	C	10: 76,058,302 (GRCm39)	H169R	probably benign	Het
Rad51ap2	T	A	12: 11,506,251 (GRCm39)	S58T	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Slc6a15	T	C	10: 103,230,925 (GRCm39)	S217P	probably benign	Het
Slco1a8	C	A	6: 141,939,363 (GRCm39)		probably null	Het
Snx27	G	A	3: 94,426,416 (GRCm39)	T361I	probably damaging	Het
St7l	A	G	3: 104,775,363 (GRCm39)	T80A	probably damaging	Het
Stk32b	T	A	5: 37,689,031 (GRCm39)	M98L	possibly damaging	Het
Tonsl	C	A	15: 76,508,350 (GRCm39)	A6S	possibly damaging	Het
Tpx2	A	G	2: 152,711,611 (GRCm39)	R49G	probably benign	Het
Trmt2a	A	G	16: 18,067,758 (GRCm39)	K144E	possibly damaging	Het
Trpm7	A	C	2: 126,654,697 (GRCm39)	L1414V	probably benign	Het
Ugdh	T	C	5: 65,580,939 (GRCm39)	K107E	possibly damaging	Het
Vamp3	A	T	4: 151,135,366 (GRCm39)		probably benign	Het
Vmn1r172	T	C	7: 23,359,651 (GRCm39)	S179P	probably damaging	Het
Vmn1r28	A	G	6: 58,242,963 (GRCm39)	M269V	probably benign	Het
Vmn2r94	T	C	17: 18,464,476 (GRCm39)	T605A	probably benign	Het
Vwce	A	G	19: 10,615,520 (GRCm39)	T134A	possibly damaging	Het
Zfp277	T	C	12: 40,495,745 (GRCm39)	E5G	probably benign	Het

Other mutations in H2-DMb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:H2-DMb2	APN	17	34,366,694 (GRCm39)	missense	probably damaging	1.00
IGL01077:H2-DMb2	APN	17	34,367,587 (GRCm39)	missense	probably damaging	1.00
IGL02691:H2-DMb2	APN	17	34,366,832 (GRCm39)	missense	probably benign
R0909:H2-DMb2	UTSW	17	34,367,783 (GRCm39)	missense	probably benign	0.00
R1299:H2-DMb2	UTSW	17	34,369,561 (GRCm39)	missense	probably benign	0.08
R4770:H2-DMb2	UTSW	17	34,367,698 (GRCm39)	missense	probably damaging	1.00
R4914:H2-DMb2	UTSW	17	34,369,503 (GRCm39)	missense	probably benign	0.05
R5265:H2-DMb2	UTSW	17	34,367,536 (GRCm39)	missense	probably damaging	1.00
R5561:H2-DMb2	UTSW	17	34,364,445 (GRCm39)	critical splice donor site	probably null
R5906:H2-DMb2	UTSW	17	34,367,582 (GRCm39)	start codon destroyed	probably null	0.99
R7970:H2-DMb2	UTSW	17	34,369,572 (GRCm39)	missense	probably benign	0.02
R8842:H2-DMb2	UTSW	17	34,366,904 (GRCm39)	missense	probably damaging	1.00
R8973:H2-DMb2	UTSW	17	34,367,699 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTGAATGATGCTGGGACC -3'
(R):5'- CTGACATGTTTGGCTTCTGC -3'

Sequencing Primer
(F):5'- AATGATGCTGGGACCCCACAG -3'
(R):5'- GCCTCTTCCAGGTCCACACTG -3'

Posted On

2014-06-30