Mutagenetix > Incidental Mutations

Incidental Mutation 'R3824:Btn2a2'

275301

Institutional Source

Beutler Lab

Gene Symbol

Btn2a2

Ensembl Gene

ENSMUSG00000053216

Gene Name

butyrophilin, subfamily 2, member A2

Synonyms

MMRRC Submission

040885-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23477676-23488857 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23480465 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 308 (T308S)

Ref Sequence

ENSEMBL: ENSMUSP00000048251 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000041541
AA Change: T308S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000048251
Gene: ENSMUSG00000053216
AA Change: T308S

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 benign
Transcript: ENSMUST00000110432
AA Change: T308S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106062
Gene: ENSMUSG00000053216
AA Change: T308S

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 benign
Transcript: ENSMUST00000110433
AA Change: T308S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106063
Gene: ENSMUSG00000053216
AA Change: T308S

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 benign
Transcript: ENSMUST00000223877

Meta Mutation Damage Score

0.0745

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,567,611	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,802,913	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,119,150		probably null	Het
A2ml1	A	G	6: 128,568,763	V467A	probably damaging	Het
Abcc3	T	C	11: 94,368,620		probably null	Het
Acad10	A	T	5: 121,622,818	M941K	probably benign	Het
Agrn	A	G	4: 156,169,302	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,393,549	Y43C	probably damaging	Het
C8b	G	T	4: 104,783,009	A170S	probably benign	Het
Cabyr	T	A	18: 12,751,690	D411E	probably benign	Het
Capn3	T	C	2: 120,484,483		probably benign	Het
Cd200r4	T	C	16: 44,820,950	F19L	probably benign	Het
Cflar	T	A	1: 58,735,697	Y218N	probably benign	Het
Col11a2	T	C	17: 34,054,180	Y630H	probably damaging	Het
Coq6	T	C	12: 84,372,415		probably benign	Het
Drg2	A	G	11: 60,459,508	T98A	possibly damaging	Het
Fam205c	A	G	4: 42,873,492		probably null	Het
Fry	T	A	5: 150,496,419	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,351,429	S240P	probably benign	Het
Glmp	G	A	3: 88,326,411	V107I	probably damaging	Het
Gls	A	C	1: 52,232,988	M2R	possibly damaging	Het
Gm13078	A	T	4: 143,726,685	H121L	probably benign	Het
Gm5724	T	C	6: 141,754,374	Q144R	possibly damaging	Het
Gm906	G	A	13: 50,245,512	S926F	possibly damaging	Het
Igfbp4	A	G	11: 99,048,235	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621	Y645*	probably null	Het
Kat6a	G	T	8: 22,862,364	V55F	probably damaging	Het
Kat8	T	A	7: 127,924,482	D292E	possibly damaging	Het
Myo19	T	A	11: 84,885,679	C54S	probably damaging	Het
Myo5b	C	T	18: 74,661,655	H532Y	probably benign	Het
Nckap1	T	C	2: 80,540,560	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,660,271	V105M	probably benign	Het
Olfr1076	T	G	2: 86,509,023	L188R	possibly damaging	Het
Olfr1394	A	G	11: 49,160,793	S260G	possibly damaging	Het
Olfr888	A	T	9: 38,108,838	I51F	possibly damaging	Het
Olfr895	T	G	9: 38,268,518	S2A	probably benign	Het
Olfr904	T	A	9: 38,464,526	C162S	probably benign	Het
Palld	T	C	8: 61,709,033	D439G	probably damaging	Het
Pcf11	T	C	7: 92,659,620		probably benign	Het
Pigo	A	T	4: 43,020,909	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,583,271		probably null	Het
Plscr3	G	A	11: 69,850,138	V267M	probably benign	Het
Prom2	A	G	2: 127,535,673		probably benign	Het
Ptk7	A	G	17: 46,565,378	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,350,789	I1743F	probably benign	Het
Ptprm	A	G	17: 66,809,575	V894A	probably benign	Het
Rack1	A	G	11: 48,802,304	T105A	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Sdk1	A	G	5: 141,936,049	T267A	probably benign	Het
Sorcs3	T	A	19: 48,722,956	D653E	probably damaging	Het
St8sia1	A	G	6: 142,829,025	L276P	probably damaging	Het
Sync	T	C	4: 129,294,363	V396A	possibly damaging	Het
Taok3	A	G	5: 117,255,937	T592A	probably benign	Het
Tas2r104	T	A	6: 131,685,039	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,659,330	I252S	probably benign	Het
Tmem259	T	C	10: 79,978,448	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,834,197	N200K	possibly damaging	Het
Usp24	G	A	4: 106,379,066	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,102,212	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,958,258	N86H	probably damaging	Het
Zfp12	T	C	5: 143,240,322	V72A	probably benign	Het

Other mutations in Btn2a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Btn2a2	APN	13	23478576	missense	probably damaging	1.00
IGL00740:Btn2a2	APN	13	23478485	missense	probably benign
IGL02053:Btn2a2	APN	13	23478820	missense	probably damaging	1.00
IGL02720:Btn2a2	APN	13	23480467	missense	probably benign	0.15
IGL02738:Btn2a2	APN	13	23478806	nonsense	probably null
IGL03010:Btn2a2	APN	13	23486205	nonsense	probably null
IGL03221:Btn2a2	APN	13	23478449	missense	probably damaging	1.00
R0066:Btn2a2	UTSW	13	23478485	missense	probably benign	0.01
R0066:Btn2a2	UTSW	13	23478485	missense	probably benign	0.01
R0597:Btn2a2	UTSW	13	23486410	missense	probably benign	0.12
R0749:Btn2a2	UTSW	13	23478398	makesense	probably null
R1209:Btn2a2	UTSW	13	23480566	critical splice donor site	probably null
R1283:Btn2a2	UTSW	13	23478832	missense	probably damaging	0.98
R1718:Btn2a2	UTSW	13	23481936	missense	probably benign	0.01
R2925:Btn2a2	UTSW	13	23481814	missense	probably damaging	1.00
R5281:Btn2a2	UTSW	13	23478832	missense	probably damaging	0.98
R5356:Btn2a2	UTSW	13	23482875	missense	probably benign	0.02
R5482:Btn2a2	UTSW	13	23486387	missense	probably benign	0.03
R5535:Btn2a2	UTSW	13	23478275	missense	probably benign	0.14
R5629:Btn2a2	UTSW	13	23481960	splice site	probably null
R5930:Btn2a2	UTSW	13	23486228	missense	probably damaging	0.96
R5952:Btn2a2	UTSW	13	23482808	missense	probably benign	0.09
R6006:Btn2a2	UTSW	13	23486363	missense	probably damaging	1.00
R6196:Btn2a2	UTSW	13	23487845	missense	possibly damaging	0.74
R6373:Btn2a2	UTSW	13	23481829	missense	probably benign	0.00
R6533:Btn2a2	UTSW	13	23481781	nonsense	probably null
R6891:Btn2a2	UTSW	13	23482844	missense	probably benign	0.10
R7468:Btn2a2	UTSW	13	23482763	missense	probably benign	0.39
R7814:Btn2a2	UTSW	13	23482806	missense	possibly damaging	0.49
R8098:Btn2a2	UTSW	13	23481888	missense	probably benign
R8215:Btn2a2	UTSW	13	23481870	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATAGAAAGTTGTGGGGCTTCC -3'
(R):5'- TATAGCAAGAGCCAGCCCTC -3'

Sequencing Primer
(F):5'- TTCCCTGACCAAGCTGGAGTC -3'
(R):5'- AGCCCTCTTTTGCTTAAGACAAATC -3'

Posted On

2015-04-02