Mutagenetix > Incidental Mutations

Incidental Mutation 'R5663:H2-Eb2'

444225

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

043306-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34325665-34340229 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34333408 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 76 (F76L)

Ref Sequence

ENSEMBL: ENSMUSP00000056814 (fasta)

Gene Model

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

AlphaFold

Q3UUV9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050325
AA Change: F76L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056814
Gene: ENSMUSG00000067341
AA Change: F76L

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,000,221	K54E	probably damaging	Het
1700021F07Rik	C	T	2: 173,527,897	P68L	probably damaging	Het
5330417C22Rik	T	C	3: 108,492,083	T64A	probably benign	Het
Adgra3	T	C	5: 49,999,285	N368D	probably benign	Het
Agfg1	T	A	1: 82,893,452	S444R	probably damaging	Het
Arhgap44	A	T	11: 65,024,291	F384I	probably damaging	Het
Atp8b2	T	C	3: 89,941,794	N1078D	probably benign	Het
Bcan	G	A	3: 87,995,613	T286I	probably damaging	Het
Cacna1d	A	G	14: 30,123,340	L624P	probably damaging	Het
Dnah7c	C	A	1: 46,535,148	F994L	probably damaging	Het
Dpp6	A	G	5: 27,049,622	I12V	possibly damaging	Het
Edil3	A	G	13: 89,042,508	I101M	probably damaging	Het
Fam160a1	T	C	3: 85,672,433	T822A	probably benign	Het
Farp2	T	C	1: 93,570,013	V255A	probably damaging	Het
Fzr1	A	G	10: 81,370,526	S137P	probably benign	Het
Gm884	A	G	11: 103,613,123	V497A	probably benign	Het
Helb	A	G	10: 120,105,793	I330T	possibly damaging	Het
Il18rap	T	A	1: 40,531,557	C220S	probably damaging	Het
Kdm4c	T	C	4: 74,399,348	V966A	probably damaging	Het
Kdm5b	T	C	1: 134,630,635	V1460A	probably benign	Het
Kif15	T	A	9: 122,991,851		probably null	Het
Masp1	T	C	16: 23,452,938	E621G	possibly damaging	Het
Mier1	T	A	4: 103,150,542	S285T	probably damaging	Het
Mroh6	A	G	15: 75,888,588	S46P	probably benign	Het
Myo1h	A	T	5: 114,334,094	Q395L	probably damaging	Het
Ndufb5	T	C	3: 32,747,749	I86T	possibly damaging	Het
Nelfb	T	A	2: 25,203,489	E417V	probably benign	Het
Nfkb1	T	G	3: 135,603,851	D494A	possibly damaging	Het
Nid1	G	A	13: 13,472,834	C395Y	probably damaging	Het
Nr4a3	G	T	4: 48,055,931	R319I	probably damaging	Het
Olfr1508	A	T	14: 52,463,595	I138K	probably benign	Het
Olfr523	G	A	7: 140,176,321	C67Y	probably damaging	Het
Olfr695	T	A	7: 106,873,670	T192S	probably benign	Het
Paqr5	A	G	9: 61,968,862	V130A	probably benign	Het
Phlpp2	G	A	8: 109,904,344	V207I	probably benign	Het
Pik3ca	C	T	3: 32,462,779	T1052M	probably damaging	Het
Pikfyve	T	C	1: 65,216,028	Y347H	probably benign	Het
Ptprz1	A	G	6: 23,035,143	H1964R	probably damaging	Het
Rassf7	C	T	7: 141,217,090	T72I	probably damaging	Het
Rfx3	A	G	19: 27,793,617	F603S	probably damaging	Het
Slc27a4	T	A	2: 29,812,370	V477D	probably damaging	Het
Slc9a3	A	C	13: 74,163,712	D593A	probably damaging	Het
Smyd1	A	G	6: 71,239,721	I14T	probably benign	Het
Sox6	T	A	7: 115,550,054	I404L	probably benign	Het
Tas2r121	G	A	6: 132,700,557	H151Y	probably benign	Het
Tgfb1	C	T	7: 25,694,281	T192M	possibly damaging	Het
Ubr4	T	C	4: 139,428,583	Y2240H	possibly damaging	Het
Whrn	T	A	4: 63,418,448	N626Y	probably damaging	Het
Wisp2	G	A	2: 163,825,253	R58Q	probably damaging	Het
Xrra1	T	A	7: 99,886,043	I185N	probably damaging	Het
Zfp94	G	A	7: 24,302,827	R397W	probably damaging	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
R4774:H2-Eb2	UTSW	17	34334401	missense	probably damaging	0.99
R4882:H2-Eb2	UTSW	17	34334256	missense	probably benign
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'- TGGAGCATTGTCTGTCCTCAC -3'
(R):5'- ATGATCTCCACACACGTGAC -3'

Sequencing Primer
(F):5'- TTCAATGGGAAGGAGCGT -3'
(R):5'- GTGACACAGAACTCTCCTCTC -3'

Posted On

2016-11-09