Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02651:Btnl2'

302150

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btnl2

Ensembl Gene

ENSMUSG00000024340

Gene Name

butyrophilin-like 2

Synonyms

BTLN2, NG9, BTL-II, butyrophylin-like MHC class II associated

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02651

Quality Score

Status

Chromosome

Chromosomal Location

34354822-34369493 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 34356222 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000025198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025198] [ENSMUST00000178562]

Predicted Effect

probably null
Transcript: ENSMUST00000025198
AA Change: M1V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025198
Gene: ENSMUSG00000024340
AA Change: M1V

Domain	Start	End	E-Value	Type
IG	35	140	2.16e-8	SMART
Blast:IG_like	150	236	4e-12	BLAST
IGv	262	343	2.89e-9	SMART
Pfam:C2-set_2	361	446	2.6e-6	PFAM
transmembrane domain	457	479	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000178562
AA Change: M1V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137048
Gene: ENSMUSG00000024340
AA Change: M1V

Domain	Start	End	E-Value	Type
IG	35	140	2.16e-8	SMART
Pfam:Ig_3	144	222	5.1e-4	PFAM
Pfam:C2-set_2	146	229	1.8e-6	PFAM
IGv	262	343	2.89e-9	SMART
Pfam:C2-set_2	360	446	3.7e-8	PFAM
Pfam:Ig_2	364	452	4.5e-2	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	A	19: 31,932,506	G233S	probably benign	Het
Abcc1	T	A	16: 14,466,126	C1202S	probably benign	Het
Acaca	C	T	11: 84,245,204		probably benign	Het
Ap3b1	T	A	13: 94,477,021	F676Y	probably damaging	Het
Arhgef11	C	A	3: 87,698,864	Q309K	probably damaging	Het
Asgr1	T	C	11: 70,057,130	Y80H	possibly damaging	Het
Atp13a5	A	T	16: 29,334,091		probably benign	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Atp8b2	A	C	3: 89,954,589		probably null	Het
Cpsf3	T	A	12: 21,293,297	M121K	probably damaging	Het
Creb3l3	A	G	10: 81,084,834	I454T	probably benign	Het
Cyp2d12	A	G	15: 82,556,740	E153G	probably damaging	Het
Dnah5	A	G	15: 28,350,622	I2597V	probably benign	Het
Ercc5	C	A	1: 44,156,944	S32R	probably damaging	Het
Fchsd2	T	A	7: 101,277,600	N656K	possibly damaging	Het
Fga	G	A	3: 83,028,534	E23K	probably benign	Het
Fn1	T	C	1: 71,597,676	T1925A	possibly damaging	Het
Fstl5	A	T	3: 76,593,534	E423D	probably damaging	Het
Glg1	C	T	8: 111,160,727	M465I	possibly damaging	Het
H2-M10.4	C	A	17: 36,460,656	R210L	probably benign	Het
Hbb-y	T	G	7: 103,852,750	K105Q	probably benign	Het
Hspg2	A	T	4: 137,557,445		probably benign	Het
Ipo11	T	C	13: 106,875,606	Y556C	probably damaging	Het
Itpr3	A	G	17: 27,106,398	M1322V	probably damaging	Het
Jhy	A	G	9: 40,917,335	L425P	probably damaging	Het
Krt26	C	T	11: 99,333,645	R349Q	probably benign	Het
Ms4a6c	A	T	19: 11,478,305	E159D	possibly damaging	Het
Msh6	A	T	17: 87,989,515	L1213F	probably damaging	Het
Npy1r	A	C	8: 66,705,023	R328S	possibly damaging	Het
Olfr1247	A	T	2: 89,609,498	N201K	possibly damaging	Het
Olfr988	A	C	2: 85,353,050	L292R	probably damaging	Het
Pcdhb18	T	G	18: 37,491,181	Y521*	probably null	Het
Pkhd1l1	A	T	15: 44,483,814	Y192F	probably damaging	Het
Rdh12	T	A	12: 79,222,052	I301N	probably damaging	Het
Rptor	T	C	11: 119,892,612	V1144A	possibly damaging	Het
Sap25	T	C	5: 137,642,370	F171L	possibly damaging	Het
Senp5	A	G	16: 31,990,079	L92P	probably benign	Het
Sfmbt1	T	C	14: 30,815,537	S736P	probably damaging	Het
Tacr1	T	C	6: 82,492,641	S169P	probably damaging	Het
Tbc1d21	A	T	9: 58,363,101	Y130*	probably null	Het
Tle2	G	A	10: 81,586,889	G428D	probably damaging	Het
Tmem117	T	A	15: 95,094,561	N367K	probably damaging	Het
Tmem210	A	G	2: 25,289,089	T130A	possibly damaging	Het
Ttn	T	G	2: 76,850,024		probably benign	Het
Ttyh1	T	C	7: 4,124,679	L122P	probably damaging	Het
Vmn2r60	T	C	7: 42,195,586	F791S	probably damaging	Het
Vps13d	A	T	4: 145,164,559	N575K	probably benign	Het
Vps8	T	C	16: 21,517,336	V746A	probably damaging	Het
Wdfy3	A	T	5: 101,896,475	M1888K	probably benign	Het
Zfp595	T	C	13: 67,320,953	D3G	probably benign	Het

Other mutations in Btnl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02251:Btnl2	APN	17	34363239	nonsense	probably null
IGL02252:Btnl2	APN	17	34365390	missense	possibly damaging	0.82
IGL02892:Btnl2	APN	17	34362668	missense	possibly damaging	0.61
IGL02939:Btnl2	APN	17	34361069	missense	probably benign	0.02
IGL03098:Btnl2	UTSW	17	34365216	missense	probably benign	0.20
R0504:Btnl2	UTSW	17	34358117	missense	probably benign	0.17
R0706:Btnl2	UTSW	17	34368662	missense	probably benign	0.21
R1460:Btnl2	UTSW	17	34366450	missense	probably benign
R1590:Btnl2	UTSW	17	34361140	missense	possibly damaging	0.86
R1597:Btnl2	UTSW	17	34363237	missense	probably damaging	1.00
R1880:Btnl2	UTSW	17	34365363	missense	possibly damaging	0.89
R3009:Btnl2	UTSW	17	34363518	missense	probably damaging	0.99
R3160:Btnl2	UTSW	17	34358065	missense	probably damaging	1.00
R3162:Btnl2	UTSW	17	34358065	missense	probably damaging	1.00
R3722:Btnl2	UTSW	17	34358135	missense	possibly damaging	0.74
R4760:Btnl2	UTSW	17	34363195	missense	probably damaging	0.99
R4786:Btnl2	UTSW	17	34363348	missense	probably damaging	1.00
R4839:Btnl2	UTSW	17	34365286	nonsense	probably null
R5456:Btnl2	UTSW	17	34363321	missense	probably benign	0.05
R6959:Btnl2	UTSW	17	34363359	missense	possibly damaging	0.47
R7011:Btnl2	UTSW	17	34363513	missense	probably damaging	1.00
R7650:Btnl2	UTSW	17	34358129	missense	probably damaging	1.00
R7785:Btnl2	UTSW	17	34361163	missense	probably benign	0.28
R7822:Btnl2	UTSW	17	34363314	missense	possibly damaging	0.91
R7988:Btnl2	UTSW	17	34358275	missense	possibly damaging	0.87
R8051:Btnl2	UTSW	17	34363499	missense	probably damaging	1.00
R8165:Btnl2	UTSW	17	34368708	missense	possibly damaging	0.62
R8272:Btnl2	UTSW	17	34356301	critical splice donor site	probably null
R8531:Btnl2	UTSW	17	34358054	missense	probably benign	0.15
Z1177:Btnl2	UTSW	17	34363519	missense	probably benign	0.19

Posted On

2015-04-16