Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02738:Btn2a2'

305762

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btn2a2

Ensembl Gene

ENSMUSG00000053216

Gene Name

butyrophilin, subfamily 2, member A2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02738

Quality Score

Status

Chromosome

Chromosomal Location

23661846-23673027 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 23662976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 316 (E316*)

Ref Sequence

ENSEMBL: ENSMUSP00000153680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041541] [ENSMUST00000110432] [ENSMUST00000110433] [ENSMUST00000223877]

AlphaFold

A4QPC6

Predicted Effect

probably null
Transcript: ENSMUST00000041541
AA Change: E325*

SMART Domains

Protein: ENSMUSP00000048251
Gene: ENSMUSG00000053216
AA Change: E325*

Domain	Start	End	E-Value	Type
low complexity region	14	28	N/A	INTRINSIC
IG	37	144	9.12e-7	SMART
Pfam:C2-set_2	148	231	3.3e-8	PFAM
transmembrane domain	250	272	N/A	INTRINSIC
coiled coil region	276	304	N/A	INTRINSIC
PRY	312	364	1.87e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000110432
AA Change: E325*

SMART Domains

Protein: ENSMUSP00000106062
Gene: ENSMUSG00000053216
AA Change: E325*

Domain	Start	End	E-Value	Type
low complexity region	14	28	N/A	INTRINSIC
IG	37	144	9.12e-7	SMART
Blast:IG_like	151	211	1e-29	BLAST
transmembrane domain	250	272	N/A	INTRINSIC
coiled coil region	276	304	N/A	INTRINSIC
PRY	312	364	1.87e-27	SMART
SPRY	365	485	3.56e-34	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000110433
AA Change: E325*

SMART Domains

Protein: ENSMUSP00000106063
Gene: ENSMUSG00000053216
AA Change: E325*

Domain	Start	End	E-Value	Type
low complexity region	14	28	N/A	INTRINSIC
IG	37	144	9.12e-7	SMART
Pfam:C2-set_2	148	231	1.2e-8	PFAM
transmembrane domain	250	272	N/A	INTRINSIC
coiled coil region	276	304	N/A	INTRINSIC
PRY	312	364	1.87e-27	SMART
SPRY	365	485	3.56e-34	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000223877
AA Change: E316*

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	A	T	2: 150,466,792 (GRCm39)		probably benign	Het
Akr1c21	A	T	13: 4,630,300 (GRCm39)	N198Y	probably damaging	Het
Anapc11	A	T	11: 120,490,102 (GRCm39)	K6I	probably benign	Het
Angel1	G	A	12: 86,752,060 (GRCm39)	L554F	probably benign	Het
Arhgap11a	A	T	2: 113,663,320 (GRCm39)	*988K	probably null	Het
Arnt	T	A	3: 95,402,631 (GRCm39)		probably null	Het
Atp1a3	T	A	7: 24,689,901 (GRCm39)	D519V	possibly damaging	Het
Bdp1	C	A	13: 100,187,861 (GRCm39)	A1575S	probably benign	Het
Bglap	G	A	3: 88,291,715 (GRCm39)	T3I	unknown	Het
Brca2	C	T	5: 150,490,500 (GRCm39)	P3054L	probably damaging	Het
C1qtnf9	C	T	14: 61,017,388 (GRCm39)	T306I	probably benign	Het
Caprin2	T	C	6: 148,744,360 (GRCm39)	T1022A	probably damaging	Het
Cd109	T	C	9: 78,598,581 (GRCm39)	Y940H	probably damaging	Het
Cd300ld	A	G	11: 114,875,076 (GRCm39)	L186S	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Chd6	A	T	2: 160,807,618 (GRCm39)	S1865R	probably benign	Het
Chrna2	T	C	14: 66,386,889 (GRCm39)	V345A	probably benign	Het
Dnah1	T	G	14: 31,014,597 (GRCm39)	E1756A	probably benign	Het
Dnah3	C	T	7: 119,564,720 (GRCm39)	A2637T	probably benign	Het
Ern2	A	G	7: 121,782,122 (GRCm39)	F80S	probably damaging	Het
Ero1b	A	G	13: 12,619,322 (GRCm39)	I439V	possibly damaging	Het
Eva1a	T	G	6: 82,048,211 (GRCm39)	S30A	probably benign	Het
Fer1l4	A	G	2: 155,887,648 (GRCm39)	L516P	probably benign	Het
Garin2	T	A	12: 78,780,989 (GRCm39)		probably benign	Het
Hexim2	T	C	11: 103,029,103 (GRCm39)	S52P	probably damaging	Het
Hoxb9	A	T	11: 96,165,554 (GRCm39)	M208L	possibly damaging	Het
Lbr	A	G	1: 181,659,778 (GRCm39)	V139A	probably benign	Het
Lcn10	G	A	2: 25,574,032 (GRCm39)		probably benign	Het
Letm2	A	G	8: 26,076,789 (GRCm39)	I271T	probably damaging	Het
Lrrc34	T	C	3: 30,685,441 (GRCm39)	S303G	possibly damaging	Het
Matn2	C	A	15: 34,388,885 (GRCm39)	A325D	probably benign	Het
Mboat4	T	C	8: 34,582,258 (GRCm39)	L4P	probably damaging	Het
Mmp1a	T	A	9: 7,464,301 (GRCm39)		probably benign	Het
Naip2	T	A	13: 100,325,685 (GRCm39)	R74S	probably benign	Het
Neb	G	T	2: 52,133,862 (GRCm39)	Q3374K	probably damaging	Het
Nup210l	A	G	3: 90,044,157 (GRCm39)	E486G	possibly damaging	Het
Or4b13	A	G	2: 90,082,699 (GRCm39)	I211T	possibly damaging	Het
Or4k51	A	C	2: 111,584,699 (GRCm39)	Y35S	probably damaging	Het
Or5m12	A	G	2: 85,735,293 (GRCm39)	V35A	probably benign	Het
Or6c69	A	T	10: 129,747,200 (GRCm39)		probably benign	Het
Pde8a	A	C	7: 80,976,090 (GRCm39)	N677H	probably damaging	Het
Plag1	G	A	4: 3,903,812 (GRCm39)	Q460*	probably null	Het
Podnl1	A	G	8: 84,858,824 (GRCm39)	T550A	probably benign	Het
Ptpn22	A	G	3: 103,781,382 (GRCm39)		probably benign	Het
Pycr3	A	T	15: 75,790,565 (GRCm39)	I98N	probably damaging	Het
Rtn4r	A	G	16: 17,969,052 (GRCm39)	Y160C	probably damaging	Het
Slc27a4	A	G	2: 29,701,238 (GRCm39)	N343S	probably benign	Het
Slc2a4	A	G	11: 69,836,940 (GRCm39)	Y43H	probably damaging	Het
Sorbs1	A	T	19: 40,365,348 (GRCm39)	L145Q	probably damaging	Het
Speer2	A	T	16: 69,658,600 (GRCm39)	S22T	probably benign	Het
Sugp2	G	T	8: 70,696,449 (GRCm39)	G474V	probably damaging	Het
Syt3	C	T	7: 44,035,447 (GRCm39)	S18L	possibly damaging	Het
Tacc1	T	C	8: 25,691,159 (GRCm39)	E48G	probably damaging	Het
Tdrd6	A	G	17: 43,931,337 (GRCm39)	V2083A	probably benign	Het
Thra	A	T	11: 98,655,185 (GRCm39)	H355L	probably benign	Het
Tmem35b	C	T	4: 127,019,981 (GRCm39)	Q34*	probably null	Het
Unk	G	T	11: 115,947,017 (GRCm39)	G537V	probably damaging	Het
Usp32	T	A	11: 84,974,632 (GRCm39)	D92V	probably damaging	Het
Vmn1r209	G	T	13: 22,990,290 (GRCm39)	Y133*	probably null	Het
Vmn1r42	A	G	6: 89,821,630 (GRCm39)	V313A	possibly damaging	Het
Vnn1	A	G	10: 23,780,520 (GRCm39)	I503V	probably benign	Het
Vwa2	G	A	19: 56,886,361 (GRCm39)	G143R	possibly damaging	Het

Other mutations in Btn2a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Btn2a2	APN	13	23,662,746 (GRCm39)	missense	probably damaging	1.00
IGL00740:Btn2a2	APN	13	23,662,655 (GRCm39)	missense	probably benign
IGL02053:Btn2a2	APN	13	23,662,990 (GRCm39)	missense	probably damaging	1.00
IGL02720:Btn2a2	APN	13	23,664,637 (GRCm39)	missense	probably benign	0.15
IGL03010:Btn2a2	APN	13	23,670,375 (GRCm39)	nonsense	probably null
IGL03221:Btn2a2	APN	13	23,662,619 (GRCm39)	missense	probably damaging	1.00
R0066:Btn2a2	UTSW	13	23,662,655 (GRCm39)	missense	probably benign	0.01
R0066:Btn2a2	UTSW	13	23,662,655 (GRCm39)	missense	probably benign	0.01
R0597:Btn2a2	UTSW	13	23,670,580 (GRCm39)	missense	probably benign	0.12
R0749:Btn2a2	UTSW	13	23,662,568 (GRCm39)	makesense	probably null
R1209:Btn2a2	UTSW	13	23,664,736 (GRCm39)	critical splice donor site	probably null
R1283:Btn2a2	UTSW	13	23,663,002 (GRCm39)	missense	probably damaging	0.98
R1718:Btn2a2	UTSW	13	23,666,106 (GRCm39)	missense	probably benign	0.01
R2925:Btn2a2	UTSW	13	23,665,984 (GRCm39)	missense	probably damaging	1.00
R3824:Btn2a2	UTSW	13	23,664,635 (GRCm39)	missense	probably benign	0.02
R5281:Btn2a2	UTSW	13	23,663,002 (GRCm39)	missense	probably damaging	0.98
R5356:Btn2a2	UTSW	13	23,667,045 (GRCm39)	missense	probably benign	0.02
R5482:Btn2a2	UTSW	13	23,670,557 (GRCm39)	missense	probably benign	0.03
R5535:Btn2a2	UTSW	13	23,662,445 (GRCm39)	missense	probably benign	0.14
R5629:Btn2a2	UTSW	13	23,666,130 (GRCm39)	splice site	probably null
R5930:Btn2a2	UTSW	13	23,670,398 (GRCm39)	missense	probably damaging	0.96
R5952:Btn2a2	UTSW	13	23,666,978 (GRCm39)	missense	probably benign	0.09
R6006:Btn2a2	UTSW	13	23,670,533 (GRCm39)	missense	probably damaging	1.00
R6196:Btn2a2	UTSW	13	23,672,015 (GRCm39)	missense	possibly damaging	0.74
R6373:Btn2a2	UTSW	13	23,665,999 (GRCm39)	missense	probably benign	0.00
R6533:Btn2a2	UTSW	13	23,665,951 (GRCm39)	nonsense	probably null
R6891:Btn2a2	UTSW	13	23,667,014 (GRCm39)	missense	probably benign	0.10
R7468:Btn2a2	UTSW	13	23,666,933 (GRCm39)	missense	probably benign	0.39
R7814:Btn2a2	UTSW	13	23,666,976 (GRCm39)	missense	possibly damaging	0.49
R8098:Btn2a2	UTSW	13	23,666,058 (GRCm39)	missense	probably benign
R8215:Btn2a2	UTSW	13	23,666,040 (GRCm39)	missense	probably damaging	0.97
R8996:Btn2a2	UTSW	13	23,662,831 (GRCm39)	missense	probably damaging	1.00
R9106:Btn2a2	UTSW	13	23,662,465 (GRCm39)	missense	probably benign	0.00
R9309:Btn2a2	UTSW	13	23,662,981 (GRCm39)	missense	probably damaging	1.00
R9544:Btn2a2	UTSW	13	23,672,008 (GRCm39)	missense	probably benign	0.02
R9564:Btn2a2	UTSW	13	23,662,848 (GRCm39)	missense	possibly damaging	0.88
R9565:Btn2a2	UTSW	13	23,662,848 (GRCm39)	missense	possibly damaging	0.88
R9708:Btn2a2	UTSW	13	23,662,907 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16