Mutagenetix > Incidental Mutations

Incidental Mutation 'R4774:H2-Eb2'

367806

Institutional Source

Beutler Lab

Gene Symbol

H2-Eb2

Ensembl Gene

ENSMUSG00000067341

Gene Name

histocompatibility 2, class II antigen E beta2

Synonyms

A130038H09Rik, Ia5, H-2Eb2, Ia-5

MMRRC Submission

042412-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4774 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34325665-34340229 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34334401 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 187 (V187E)

Ref Sequence

ENSEMBL: ENSMUSP00000056814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050325]

AlphaFold

Q3UUV9

Predicted Effect

probably damaging
Transcript: ENSMUST00000050325
AA Change: V187E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056814
Gene: ENSMUSG00000067341
AA Change: V187E

Domain	Start	End	E-Value	Type
transmembrane domain	10	29	N/A	INTRINSIC
MHC_II_beta	42	115	8.29e-35	SMART
IGc1	140	211	1.24e-26	SMART
transmembrane domain	227	249	N/A	INTRINSIC

Meta Mutation Damage Score

0.9394

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (97/99)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,639,317	I844V	probably damaging	Het
Acnat1	T	A	4: 49,450,784	Y109F	probably benign	Het
Alox12b	T	C	11: 69,163,207	V205A	probably benign	Het
Apopt1	A	G	12: 111,713,389	T33A	possibly damaging	Het
Arl6ip1	G	A	7: 118,121,985	R77C	probably damaging	Het
Atp8b1	A	G	18: 64,533,659	C1156R	possibly damaging	Het
Atp8b3	A	C	10: 80,536,322	N24K	probably damaging	Het
Bdh1	T	C	16: 31,455,136	V209A	possibly damaging	Het
Blm	A	T	7: 80,463,848	C1234S	probably damaging	Het
Caml	A	G	13: 55,631,927	D271G	possibly damaging	Het
Capn11	T	C	17: 45,633,080	D545G	probably benign	Het
Catspere1	T	C	1: 177,937,738		noncoding transcript	Het
Ccdc114	T	A	7: 45,948,380	S571R	probably damaging	Het
Cep128	T	C	12: 91,234,195	E347G	probably damaging	Het
Cngb3	A	G	4: 19,415,713	T408A	possibly damaging	Het
Cog1	G	A	11: 113,657,427	R18Q	possibly damaging	Het
Cps1	T	C	1: 67,220,512	F1338L	probably damaging	Het
Csmd1	T	C	8: 16,009,369	H2122R	probably benign	Het
Ctu2	T	G	8: 122,481,112	S26A	probably benign	Het
Dbf4	G	A	5: 8,403,062		probably benign	Het
Ddx23	A	T	15: 98,647,235	D663E	probably benign	Het
Dpep2	T	C	8: 105,990,756	T123A	possibly damaging	Het
Eed	A	G	7: 89,964,768	I274T	probably damaging	Het
Eif3b	A	G	5: 140,419,500	D47G	probably benign	Het
Epas1	T	C	17: 86,805,758	V124A	probably damaging	Het
Fam129a	A	T	1: 151,715,694	D529V	probably damaging	Het
Fer1l6	T	C	15: 58,577,949	L668P	probably damaging	Het
Fnip2	C	A	3: 79,465,721	E1017*	probably null	Het
Gm43517	A	T	12: 49,389,907		probably benign	Het
Got1	A	G	19: 43,502,906		probably null	Het
H2-Q1	T	C	17: 35,321,266		probably benign	Het
Hpgd	T	C	8: 56,298,419	V94A	probably damaging	Het
Htra1	T	A	7: 130,985,026	N446K	probably benign	Het
Igkv3-4	T	A	6: 70,672,285	S89R	probably damaging	Het
Immt	C	T	6: 71,852,736	T142I	probably damaging	Het
Itpkb	C	A	1: 180,418,194	P759T	probably damaging	Het
Jmjd1c	G	A	10: 67,224,792	V688I	possibly damaging	Het
Kbtbd13	G	T	9: 65,390,743	R304S	probably benign	Het
Lama5	A	C	2: 180,185,941	L2176R	probably damaging	Het
Lrp1b	G	C	2: 40,661,532	L418V	probably null	Het
Lrrc4b	C	A	7: 44,462,372		probably null	Het
Lyst	A	G	13: 13,740,597	N3292S	probably damaging	Het
Mep1b	A	T	18: 21,086,184	I132F	probably benign	Het
Mettl2	A	G	11: 105,126,610		probably null	Het
Nmd3	T	C	3: 69,745,236	L385S	probably benign	Het
Nol4	T	C	18: 22,912,626	E243G	probably damaging	Het
Olfr1052	A	T	2: 86,298,698	N294I	possibly damaging	Het
Olfr639	A	G	7: 104,012,588	I38T	probably benign	Het
Olfr723	T	A	14: 49,929,269	I92F	probably damaging	Het
Olfr917	A	G	9: 38,665,223	I207T	probably benign	Het
Pcnp	A	G	16: 56,017,159		probably benign	Het
Pla2g6	A	C	15: 79,287,618	C680G	probably damaging	Het
Plekha7	G	T	7: 116,144,943	D661E	probably damaging	Het
Prim1	A	T	10: 128,027,018		probably benign	Het
Psg29	T	A	7: 17,210,535	N323K	probably benign	Het
Ptrh2	G	A	11: 86,690,007	R150H	probably damaging	Het
Rasa1	A	G	13: 85,250,502		probably benign	Het
Rasa3	T	C	8: 13,577,501	D667G	probably benign	Het
Rnase2a	T	C	14: 51,255,744	N55D	probably damaging	Het
Rsf1	GCGGCGGCGGCGGCGGCGGC	GCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,579,916		probably benign	Het
Sbp	T	A	17: 23,945,244	N133K	probably damaging	Het
Scml4	A	G	10: 42,957,747		probably benign	Het
Sema5b	T	A	16: 35,663,182	N1063K	probably damaging	Het
Serpind1	C	T	16: 17,336,408	T33M	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc15a2	A	T	16: 36,781,695	L80*	probably null	Het
Slc9a3r2	T	C	17: 24,644,899	M1V	probably null	Het
Sorcs3	A	G	19: 48,794,163	D1039G	probably benign	Het
Spon1	A	G	7: 114,039,867	E776G	probably damaging	Het
Tdp1	C	T	12: 99,902,364	A259V	possibly damaging	Het
Tex46	C	A	4: 136,610,680	P61Q	probably benign	Het
Tnr	T	A	1: 159,897,066	L1109Q	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tpra1	G	A	6: 88,910,679		probably benign	Het
Trim43c	A	T	9: 88,847,652	H383L	possibly damaging	Het
Trip6	A	G	5: 137,310,171	C439R	probably damaging	Het
Tsen2	C	T	6: 115,575,933	S398L	possibly damaging	Het
Tubgcp2	T	C	7: 139,996,161	D863G	probably damaging	Het
Ube2d2a	A	G	18: 35,770,445		probably benign	Het
Umad1	T	A	6: 8,427,181	F145I	probably damaging	Het
Unc5c	A	T	3: 141,828,517	E933V	probably damaging	Het
Vmn1r208	A	G	13: 22,772,476	F284L	probably benign	Het
Vmn2r53	T	A	7: 12,600,765	R323*	probably null	Het
Zan	G	A	5: 137,389,019	T4924I	unknown	Het
Zfp597	G	T	16: 3,865,987	Q302K	probably benign	Het

Other mutations in H2-Eb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:H2-Eb2	APN	17	34334367	missense	probably damaging	0.98
IGL00965:H2-Eb2	APN	17	34325797	splice site	probably null
IGL01380:H2-Eb2	APN	17	34335809	missense	probably benign	0.41
IGL02057:H2-Eb2	APN	17	34335767	splice site	probably benign
IGL02190:H2-Eb2	APN	17	34334374	missense	probably damaging	1.00
IGL02220:H2-Eb2	APN	17	34325687	utr 5 prime	probably benign
R0469:H2-Eb2	UTSW	17	34334244	nonsense	probably null
R0510:H2-Eb2	UTSW	17	34334244	nonsense	probably null
R1169:H2-Eb2	UTSW	17	34333357	missense	possibly damaging	0.89
R1334:H2-Eb2	UTSW	17	34334350	missense	probably damaging	0.99
R1598:H2-Eb2	UTSW	17	34334374	missense	probably damaging	1.00
R1991:H2-Eb2	UTSW	17	34334304	missense	probably benign	0.15
R2103:H2-Eb2	UTSW	17	34334304	missense	probably benign	0.15
R4191:H2-Eb2	UTSW	17	34344555	unclassified	probably benign
R4194:H2-Eb2	UTSW	17	34333326	missense	probably benign
R4461:H2-Eb2	UTSW	17	34333523	missense	possibly damaging	0.80
R4882:H2-Eb2	UTSW	17	34334256	missense	probably benign
R5663:H2-Eb2	UTSW	17	34333408	missense	possibly damaging	0.92
R6913:H2-Eb2	UTSW	17	34333549	missense	possibly damaging	0.89
R7139:H2-Eb2	UTSW	17	34334421	missense	probably benign	0.30
R7457:H2-Eb2	UTSW	17	34334347	missense	probably damaging	1.00
R9173:H2-Eb2	UTSW	17	34333517	missense	probably benign	0.37
Z1176:H2-Eb2	UTSW	17	34334309	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TGACTGTGTACCCTGCAAAG -3'
(R):5'- CTTGTGGAGTCACCCATGTG -3'

Sequencing Primer
(F):5'- TGTGTACCCTGCAAAGACACAG -3'
(R):5'- CCCTGGTAGGCAGGGATTTACAG -3'

Posted On

2015-12-29