Mutagenetix > Incidental Mutations

Incidental Mutation 'R6959:Btnl2'

541683

Institutional Source

Beutler Lab

Gene Symbol

Btnl2

Ensembl Gene

ENSMUSG00000024340

Gene Name

butyrophilin-like 2

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6959 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34354822-34369493 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34363359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 300 (V300M)

Ref Sequence

ENSEMBL: ENSMUSP00000137048 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025198
AA Change: V300M

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025198
Gene: ENSMUSG00000024340
AA Change: V300M

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

possibly damaging
Transcript: ENSMUST00000178562
AA Change: V300M

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137048
Gene: ENSMUSG00000024340
AA Change: V300M

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

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

94% (61/65)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	G	A	11: 70,616,659	G177R	probably damaging	Het
4932438A13Rik	T	G	3: 36,967,189	V2154G	probably damaging	Het
Arhgef12	T	C	9: 43,015,953	T292A	probably benign	Het
Atp11a	T	A	8: 12,820,467	D173E	probably damaging	Het
Calcrl	A	T	2: 84,370,084	N117K	possibly damaging	Het
Ccl22	A	T	8: 94,746,900		probably null	Het
Cd200r1	T	A	16: 44,790,176	S216T	probably damaging	Het
Cdk5rap2	G	A	4: 70,360,669		probably null	Het
Cfap157	A	G	2: 32,784,248	I47T	probably damaging	Het
Chodl	G	A	16: 78,946,684	V220I	probably damaging	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Cstf3	A	G	2: 104,649,462	T225A	probably benign	Het
Duoxa1	T	C	2: 122,303,837	S267G	probably damaging	Het
Epb41l1	G	A	2: 156,499,587	S164N	probably benign	Het
Fam126a	T	C	5: 23,991,756	I45V	possibly damaging	Het
Fat3	T	C	9: 15,996,885	D2607G	possibly damaging	Het
Galnt5	A	G	2: 57,999,219	D277G	probably benign	Het
Galnt6	A	G	15: 100,714,125	I212T	probably damaging	Het
Gatsl2	T	C	5: 134,135,213	S83P	probably damaging	Het
Gm45861	T	C	8: 27,548,185		probably null	Het
Gm5478	T	C	15: 101,645,448	D243G	probably damaging	Het
Gm6657	A	G	12: 78,202,296	K139E	probably damaging	Het
Gm7682	T	A	5: 94,447,032	N250K	possibly damaging	Het
Gse1	A	G	8: 120,570,971		probably benign	Het
Hspg2	A	T	4: 137,519,289	Q1096L	probably benign	Het
Idh3b	A	G	2: 130,281,527	V181A	probably damaging	Het
Igf2bp3	T	C	6: 49,117,148		probably null	Het
Ikzf2	A	G	1: 69,538,770	*382Q	probably null	Het
Impg2	A	C	16: 56,268,330	H1073P	probably benign	Het
Incenp	T	C	19: 9,876,770	E639G	unknown	Het
Kcne4	A	G	1: 78,817,886	M84V	probably benign	Het
Ktn1	T	A	14: 47,720,256	F1004I	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Malrd1	A	G	2: 16,218,009	I2040V	probably damaging	Het
Mau2	T	C	8: 70,033,228	D110G	probably damaging	Het
Mei1	T	C	15: 82,124,875	V1237A	probably benign	Het
Mfsd11	T	G	11: 116,861,669		probably null	Het
Ncapd2	A	G	6: 125,168,920	F1293L	probably benign	Het
Nf1	A	G	11: 79,549,468	T280A	probably damaging	Het
Obscn	G	T	11: 59,037,585	A6085E	probably damaging	Het
Olfr623	T	A	7: 103,660,843	I136F	probably damaging	Het
Pdzd2	C	T	15: 12,375,907	A1381T	probably benign	Het
Ralgapa2	A	G	2: 146,342,701	V1462A	probably damaging	Het
Rbx1	T	A	15: 81,470,962	C56*	probably null	Het
Reln	A	G	5: 21,976,564	S1774P	probably damaging	Het
Ros1	T	A	10: 52,163,994	E300D	probably damaging	Het
Sarnp	T	C	10: 128,848,268	V111A	possibly damaging	Het
Scube1	G	T	15: 83,629,435	Q345K	probably benign	Het
Slc18b1	A	G	10: 23,826,044		probably null	Het
Slc37a2	T	A	9: 37,241,334	T64S	probably benign	Het
Slit2	A	G	5: 48,238,385	D710G	possibly damaging	Het
Srp72	T	A	5: 76,994,223	Y375N	possibly damaging	Het
Tmco4	T	A	4: 139,010,499	V135D	probably damaging	Het
Trim62	A	G	4: 128,909,162	D335G	probably damaging	Het
Tsfm	T	C	10: 127,022,909	M196V	probably benign	Het
Tspan10	T	A	11: 120,444,696	C211S	probably damaging	Het
Ttc21b	A	T	2: 66,231,312	M498K	probably benign	Het
Ttc6	A	T	12: 57,658,142		probably null	Het
Ttll1	G	T	15: 83,502,196	Y69*	probably null	Het
Usp28	T	A	9: 49,001,542	L31H	probably damaging	Het
Vmn2r86	A	G	10: 130,446,531	S739P	probably damaging	Het
Wdr64	T	A	1: 175,705,989	F64I	probably damaging	Het
Ywhaq	A	G	12: 21,396,280		probably null	Het
Zfr	T	C	15: 12,150,323	S459P	probably damaging	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
IGL02651:Btnl2	APN	17	34356222	start codon destroyed	probably null	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTCCGTTAGCGTAATCGGAC -3'
(R):5'- CCACAGTGTTAGGAAGCTGGAG -3'

Sequencing Primer
(F):5'- GTTAGCGTAATCGGACATTCCCAG -3'
(R):5'- AAAGATCCACCTGGTATCCTTAC -3'

Posted On

2018-11-28