Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02939:Btnl2'

365936

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btnl2

Ensembl Gene

ENSMUSG00000024340

Gene Name

butyrophilin-like 2

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02939

Quality Score

Status

Chromosome

Chromosomal Location

34573796-34588469 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34580043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 192 (H192L)

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: H192L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000025198
Gene: ENSMUSG00000024340
AA Change: H192L

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 benign
Transcript: ENSMUST00000178562
AA Change: H192L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000137048
Gene: ENSMUSG00000024340
AA Change: H192L

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6ap1	A	G	X: 73,340,924 (GRCm39)	D47G	probably benign	Het
Atr	T	C	9: 95,747,314 (GRCm39)	F199L	probably benign	Het
Bivm	C	A	1: 44,182,120 (GRCm39)	H443N	probably benign	Het
Ccdc178	A	T	18: 22,253,775 (GRCm39)	C155S	probably benign	Het
Celsr1	C	A	15: 85,785,673 (GRCm39)	V2934L	probably benign	Het
Celsr3	T	C	9: 108,726,652 (GRCm39)	S3294P	probably damaging	Het
Ddx10	T	A	9: 53,115,579 (GRCm39)	E585V	possibly damaging	Het
Elapor2	T	C	5: 9,511,478 (GRCm39)	Y947H	probably damaging	Het
Eps15l1	A	T	8: 73,138,606 (GRCm39)		probably benign	Het
Erlin1	G	T	19: 44,051,491 (GRCm39)	T70K	probably damaging	Het
Ext2	A	T	2: 93,534,964 (GRCm39)		probably null	Het
Fam124a	G	A	14: 62,793,368 (GRCm39)		probably null	Het
Fam53a	T	C	5: 33,765,103 (GRCm39)	D201G	probably damaging	Het
Fgf14	C	T	14: 124,369,891 (GRCm39)	G136D	possibly damaging	Het
Gdi2	A	T	13: 3,614,623 (GRCm39)	T323S	probably benign	Het
Gemin5	A	T	11: 58,047,556 (GRCm39)	N339K	probably damaging	Het
Golga4	A	G	9: 118,364,522 (GRCm39)	E286G	probably benign	Het
Golga4	A	C	9: 118,363,700 (GRCm39)	K233T	probably damaging	Het
Gosr1	A	G	11: 76,641,732 (GRCm39)		probably benign	Het
Haus8	A	G	8: 71,708,361 (GRCm39)		probably benign	Het
Itgb3bp	T	C	4: 99,690,373 (GRCm39)	T49A	probably null	Het
Ldlrad4	A	G	18: 68,387,585 (GRCm39)	D299G	probably damaging	Het
Lpo	A	G	11: 87,706,004 (GRCm39)	M273T	possibly damaging	Het
Map3k4	T	A	17: 12,491,036 (GRCm39)	S132C	probably damaging	Het
Mycbp2	T	G	14: 103,414,715 (GRCm39)	T2566P	probably benign	Het
Nalcn	T	C	14: 123,536,284 (GRCm39)	E1255G	probably null	Het
Nop56	A	T	2: 130,120,117 (GRCm39)	K157N	probably damaging	Het
Or10g9	C	T	9: 39,912,194 (GRCm39)	E110K	probably benign	Het
Or6c1	A	T	10: 129,517,857 (GRCm39)	Y250*	probably null	Het
Pcdh15	A	G	10: 74,340,648 (GRCm39)		probably benign	Het
Pi4ka	T	C	16: 17,172,074 (GRCm39)	H557R	probably damaging	Het
Plekha4	C	T	7: 45,181,787 (GRCm39)	Q64*	probably null	Het
Ppp2r3c	G	A	12: 55,345,192 (GRCm39)		probably benign	Het
Rgmb	C	T	17: 16,027,755 (GRCm39)	M321I	probably benign	Het
Rnf31	T	C	14: 55,833,131 (GRCm39)	S363P	probably benign	Het
Sap18b	T	A	8: 96,552,329 (GRCm39)	M113K	probably benign	Het
Scara3	T	A	14: 66,169,105 (GRCm39)	M171L	probably benign	Het
Slc9a2	T	G	1: 40,781,863 (GRCm39)	M364R	probably damaging	Het
Sorcs1	C	T	19: 50,666,368 (GRCm39)	W180*	probably null	Het
Stat6	T	A	10: 127,482,809 (GRCm39)	M10K	probably benign	Het
Sun1	T	C	5: 139,221,243 (GRCm39)		probably benign	Het
Tead2	T	C	7: 44,869,858 (GRCm39)		probably benign	Het
Tjp1	T	G	7: 64,964,638 (GRCm39)	E844D	probably damaging	Het
Tmtc2	A	G	10: 105,206,411 (GRCm39)	S295P	probably damaging	Het
Ttn	G	A	2: 76,612,756 (GRCm39)	R17108C	probably damaging	Het
Ubr1	T	C	2: 120,711,664 (GRCm39)		probably null	Het
Vmn2r108	T	A	17: 20,691,545 (GRCm39)	H326L	probably benign	Het
Xdh	A	G	17: 74,250,840 (GRCm39)		probably null	Het
Zfp385b	A	G	2: 77,242,403 (GRCm39)	S439P	probably benign	Het
Zfp597	G	A	16: 3,683,805 (GRCm39)	S317L	probably benign	Het
Zfp638	A	G	6: 83,946,214 (GRCm39)	D1081G	probably damaging	Het
Zfp93	C	T	7: 23,974,509 (GRCm39)	H165Y	possibly damaging	Het

Other mutations in Btnl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02251:Btnl2	APN	17	34,582,213 (GRCm39)	nonsense	probably null
IGL02252:Btnl2	APN	17	34,584,364 (GRCm39)	missense	possibly damaging	0.82
IGL02651:Btnl2	APN	17	34,575,196 (GRCm39)	start codon destroyed	probably null	1.00
IGL02892:Btnl2	APN	17	34,581,642 (GRCm39)	missense	possibly damaging	0.61
IGL03098:Btnl2	UTSW	17	34,584,190 (GRCm39)	missense	probably benign	0.20
R0504:Btnl2	UTSW	17	34,577,091 (GRCm39)	missense	probably benign	0.17
R0706:Btnl2	UTSW	17	34,587,636 (GRCm39)	missense	probably benign	0.21
R1460:Btnl2	UTSW	17	34,585,424 (GRCm39)	missense	probably benign
R1590:Btnl2	UTSW	17	34,580,114 (GRCm39)	missense	possibly damaging	0.86
R1597:Btnl2	UTSW	17	34,582,211 (GRCm39)	missense	probably damaging	1.00
R1880:Btnl2	UTSW	17	34,584,337 (GRCm39)	missense	possibly damaging	0.89
R3009:Btnl2	UTSW	17	34,582,492 (GRCm39)	missense	probably damaging	0.99
R3160:Btnl2	UTSW	17	34,577,039 (GRCm39)	missense	probably damaging	1.00
R3162:Btnl2	UTSW	17	34,577,039 (GRCm39)	missense	probably damaging	1.00
R3722:Btnl2	UTSW	17	34,577,109 (GRCm39)	missense	possibly damaging	0.74
R4760:Btnl2	UTSW	17	34,582,169 (GRCm39)	missense	probably damaging	0.99
R4786:Btnl2	UTSW	17	34,582,322 (GRCm39)	missense	probably damaging	1.00
R4839:Btnl2	UTSW	17	34,584,260 (GRCm39)	nonsense	probably null
R5456:Btnl2	UTSW	17	34,582,295 (GRCm39)	missense	probably benign	0.05
R6959:Btnl2	UTSW	17	34,582,333 (GRCm39)	missense	possibly damaging	0.47
R7011:Btnl2	UTSW	17	34,582,487 (GRCm39)	missense	probably damaging	1.00
R7650:Btnl2	UTSW	17	34,577,103 (GRCm39)	missense	probably damaging	1.00
R7785:Btnl2	UTSW	17	34,580,137 (GRCm39)	missense	probably benign	0.28
R7822:Btnl2	UTSW	17	34,582,288 (GRCm39)	missense	possibly damaging	0.91
R7988:Btnl2	UTSW	17	34,577,249 (GRCm39)	missense	possibly damaging	0.87
R8051:Btnl2	UTSW	17	34,582,473 (GRCm39)	missense	probably damaging	1.00
R8165:Btnl2	UTSW	17	34,587,682 (GRCm39)	missense	possibly damaging	0.62
R8272:Btnl2	UTSW	17	34,575,275 (GRCm39)	critical splice donor site	probably null
R8531:Btnl2	UTSW	17	34,577,028 (GRCm39)	missense	probably benign	0.15
R9677:Btnl2	UTSW	17	34,580,007 (GRCm39)	missense	possibly damaging	0.94
Z1177:Btnl2	UTSW	17	34,582,493 (GRCm39)	missense	probably benign	0.19

Posted On

2015-12-18