Mutagenetix > Incidental Mutation

Incidental Mutation 'R1880:Btnl2'

209079

Institutional Source

Beutler Lab

Gene Symbol

Btnl2

Ensembl Gene

ENSMUSG00000024340

Gene Name

butyrophilin-like 2

Synonyms

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

MMRRC Submission

039901-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1880 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34573796-34588469 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34584337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 420 (E420G)

Ref Sequence

ENSEMBL: ENSMUSP00000137048 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025198
AA Change: E420G

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025198
Gene: ENSMUSG00000024340
AA Change: E420G

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: E420G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137048
Gene: ENSMUSG00000024340
AA Change: E420G

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: 97.4%
3x: 96.9%
10x: 95.4%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,072,615 (GRCm39)	D846G	possibly damaging	Het
Arhgef5	C	A	6: 43,250,022 (GRCm39)	Q258K	possibly damaging	Het
Atp10b	G	T	11: 43,150,259 (GRCm39)	G1319V	probably damaging	Het
Axl	T	C	7: 25,473,973 (GRCm39)	T315A	probably damaging	Het
Brd10	C	A	19: 29,695,523 (GRCm39)	L1323F	probably benign	Het
Capn2	A	G	1: 182,316,581 (GRCm39)	W293R	probably damaging	Het
Cd209f	A	G	8: 4,155,464 (GRCm39)		probably null	Het
Cltc	A	G	11: 86,603,457 (GRCm39)	Y790H	probably damaging	Het
Col1a1	A	G	11: 94,841,394 (GRCm39)	K1259R	unknown	Het
Dpysl3	A	T	18: 43,462,939 (GRCm39)		probably null	Het
Dus4l	T	C	12: 31,690,869 (GRCm39)	I261V	probably benign	Het
Ell3	T	C	2: 121,270,792 (GRCm39)	D247G	probably benign	Het
Erg	G	A	16: 95,178,168 (GRCm39)	T246I	probably benign	Het
Eva1c	T	C	16: 90,694,303 (GRCm39)	I196T	possibly damaging	Het
Fbxo43	T	C	15: 36,162,661 (GRCm39)	D182G	probably benign	Het
Frrs1	T	C	3: 116,690,444 (GRCm39)		probably null	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gata4	G	T	14: 63,442,144 (GRCm39)	P20Q	probably damaging	Het
Gmnc	T	C	16: 26,784,361 (GRCm39)	D48G	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Habp2	A	G	19: 56,306,260 (GRCm39)	I481V	possibly damaging	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Hnrnpul1	A	G	7: 25,432,523 (GRCm39)	V380A	possibly damaging	Het
Hspa2	G	A	12: 76,452,694 (GRCm39)	D463N	possibly damaging	Het
Itga11	A	G	9: 62,585,231 (GRCm39)	D2G	probably benign	Het
Kel	G	A	6: 41,664,479 (GRCm39)	L653F	possibly damaging	Het
Lgr5	T	C	10: 115,288,184 (GRCm39)	Y748C	probably damaging	Het
Lpxn	A	G	19: 12,781,452 (GRCm39)	K57E	probably benign	Het
Ltbp2	G	T	12: 84,876,045 (GRCm39)	H501N	probably benign	Het
Macf1	G	A	4: 123,332,384 (GRCm39)	A2419V	probably damaging	Het
Map3k12	A	G	15: 102,410,499 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,034,285 (GRCm39)	V668I	possibly damaging	Het
Mmp10	T	C	9: 7,505,575 (GRCm39)	S280P	probably benign	Het
Neb	C	A	2: 52,148,743 (GRCm39)	M2601I	probably damaging	Het
Nsd1	T	A	13: 55,361,606 (GRCm39)	N191K	probably damaging	Het
Or2w1	A	T	13: 21,317,802 (GRCm39)	N286Y	probably damaging	Het
Or5e1	T	C	7: 108,354,335 (GRCm39)	S91P	probably damaging	Het
Or5w14	C	A	2: 87,541,639 (GRCm39)	G204C	probably damaging	Het
Or6c214	A	G	10: 129,591,290 (GRCm39)	F10L	probably benign	Het
Patj	C	T	4: 98,385,477 (GRCm39)	P364S	probably benign	Het
Pex1	T	C	5: 3,655,770 (GRCm39)	V39A	probably benign	Het
Pira13	C	T	7: 3,827,950 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,388,638 (GRCm39)	I1332F	probably benign	Het
Polq	T	C	16: 36,906,954 (GRCm39)	V2026A	possibly damaging	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Ppp4r4	T	A	12: 103,571,294 (GRCm39)	Y678N	possibly damaging	Het
Rpf2	T	C	10: 40,109,154 (GRCm39)	D95G	possibly damaging	Het
Sema3c	A	T	5: 17,932,464 (GRCm39)	K656*	probably null	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Snap25	G	A	2: 136,619,305 (GRCm39)	V153M	probably damaging	Het
Snrnp70	T	C	7: 45,026,786 (GRCm39)		probably null	Het
Tas2r144	C	T	6: 42,193,004 (GRCm39)	T248I	probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Usp38	T	C	8: 81,727,695 (GRCm39)	E346G	probably damaging	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r91	A	T	7: 19,835,698 (GRCm39)	S206C	probably damaging	Het
Vps36	T	C	8: 22,703,578 (GRCm39)		probably null	Het
Wdfy3	T	C	5: 102,065,301 (GRCm39)	N1289S	probably benign	Het
Zfp759	T	C	13: 67,287,276 (GRCm39)	C276R	probably damaging	Het
Zkscan17	G	A	11: 59,378,455 (GRCm39)	Q243*	probably null	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
IGL02939:Btnl2	APN	17	34,580,043 (GRCm39)	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- GGATGTTGCTGACCACACAC -3'
(R):5'- ACCTGAAGACAAACTTTGCAAGAG -3'

Sequencing Primer
(F):5'- CACATGTGTGGAGGCTCC -3'
(R):5'- TAATCCCAGAGCTTGTGACG -3'

Posted On

2014-06-30