Mutagenetix > Incidental Mutation

Incidental Mutation 'R1718:Btn2a2'

191225

Institutional Source

Beutler Lab

Gene Symbol

Btn2a2

Ensembl Gene

ENSMUSG00000053216

Gene Name

butyrophilin, subfamily 2, member A2

Synonyms

MMRRC Submission

039751-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1718 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23661846-23673027 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23666106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 242 (V242A)

Ref Sequence

ENSEMBL: ENSMUSP00000153680 (fasta)

Gene Model

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

AlphaFold

A4QPC6

Predicted Effect

probably benign
Transcript: ENSMUST00000041541
AA Change: V242A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000048251
Gene: ENSMUSG00000053216
AA Change: V242A

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: V242A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000106062
Gene: ENSMUSG00000053216
AA Change: V242A

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: V242A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000106063
Gene: ENSMUSG00000053216
AA Change: V242A

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
AA Change: V242A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	T	13: 77,393,489 (GRCm39)		probably benign	Het
Acot3	T	G	12: 84,100,717 (GRCm39)		probably null	Het
Acox1	A	T	11: 116,065,508 (GRCm39)	C523*	probably null	Het
Adamts19	G	A	18: 59,105,897 (GRCm39)	C764Y	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Apob	A	G	12: 8,066,087 (GRCm39)	K4319R	probably benign	Het
AU016765	A	C	17: 64,862,433 (GRCm39)		noncoding transcript	Het
Bpifb1	T	A	2: 154,055,903 (GRCm39)		probably null	Het
Camta1	A	G	4: 151,168,481 (GRCm39)	S1281P	probably benign	Het
Ccdc116	T	C	16: 16,959,772 (GRCm39)	K306E	probably benign	Het
Cemip	A	G	7: 83,584,866 (GRCm39)	V1350A	probably benign	Het
Clip2	A	T	5: 134,531,783 (GRCm39)	L674*	probably null	Het
Cyp2d12	T	A	15: 82,442,251 (GRCm39)	D244E	probably benign	Het
Cyp4x1	A	G	4: 114,968,867 (GRCm39)	V379A	possibly damaging	Het
Dnah9	T	A	11: 66,058,905 (GRCm39)	H130L	possibly damaging	Het
Enpp7	A	G	11: 118,881,809 (GRCm39)	Y318C	probably damaging	Het
Fras1	A	T	5: 96,702,748 (GRCm39)		probably null	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm28042	T	A	2: 119,866,872 (GRCm39)	S172T	possibly damaging	Het
Gm7808	T	A	9: 19,839,299 (GRCm39)		probably benign	Het
Gpr61	C	T	3: 108,057,696 (GRCm39)	V322M	possibly damaging	Het
H2-T5	A	G	17: 36,472,676 (GRCm39)		probably benign	Het
Hapln3	A	G	7: 78,773,198 (GRCm39)	V15A	unknown	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klk1b4	A	G	7: 43,859,096 (GRCm39)	Y38C	probably damaging	Het
Lrrfip1	A	G	1: 91,043,277 (GRCm39)	K561E	probably damaging	Het
Map3k1	A	G	13: 111,891,953 (GRCm39)	C1101R	probably benign	Het
Mcoln2	A	G	3: 145,896,229 (GRCm39)		probably benign	Het
Mfsd2b	G	A	12: 4,919,037 (GRCm39)	T73I	probably damaging	Het
Mfsd4b5	C	T	10: 39,851,199 (GRCm39)	V19I	probably benign	Het
Mgme1	T	A	2: 144,114,238 (GRCm39)	D113E	probably benign	Het
Mki67	A	G	7: 135,297,223 (GRCm39)	S2604P	probably damaging	Het
Mob3c	A	G	4: 115,688,841 (GRCm39)	I125V	probably benign	Het
Mrps9	G	A	1: 42,942,559 (GRCm39)	R339H	probably damaging	Het
Ndst1	T	C	18: 60,840,875 (GRCm39)	D269G	probably damaging	Het
Nedd9	T	C	13: 41,492,402 (GRCm39)	N30S	probably damaging	Het
Notch4	G	A	17: 34,795,737 (GRCm39)		probably benign	Het
Or5ak25	T	C	2: 85,269,149 (GRCm39)	M118V	probably benign	Het
Or5t15	A	T	2: 86,681,531 (GRCm39)	N170K	probably benign	Het
Or8b9	G	A	9: 37,766,749 (GRCm39)	V212I	probably benign	Het
Or8c10	A	G	9: 38,278,890 (GRCm39)	D6G	probably benign	Het
Papss1	C	A	3: 131,324,946 (GRCm39)	R447S	probably damaging	Het
Pla2g4a	C	T	1: 149,747,274 (GRCm39)		probably benign	Het
Rab11fip2	A	G	19: 59,924,081 (GRCm39)	F266L	probably damaging	Het
Ralgapb	T	A	2: 158,285,200 (GRCm39)	Y554*	probably null	Het
Rem2	T	C	14: 54,716,607 (GRCm39)	V240A	probably damaging	Het
Retsat	T	C	6: 72,579,654 (GRCm39)	V143A	probably benign	Het
Rnf141	G	T	7: 110,420,480 (GRCm39)	Q175K	probably damaging	Het
Rtcb	C	A	10: 85,777,881 (GRCm39)	G431V	probably damaging	Het
Slc7a6os	A	G	8: 106,930,971 (GRCm39)	W222R	probably damaging	Het
Smarcc2	T	C	10: 128,304,867 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,755,828 (GRCm39)	Y218N	possibly damaging	Het
Sp110	G	A	1: 85,522,106 (GRCm39)	H66Y	probably benign	Het
Speg	G	A	1: 75,394,507 (GRCm39)	E1739K	probably benign	Het
Speg	A	G	1: 75,398,388 (GRCm39)	Q1945R	possibly damaging	Het
Sprtn	T	C	8: 125,625,096 (GRCm39)	V67A	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tnks1bp1	G	T	2: 84,902,082 (GRCm39)	E997D	probably benign	Het
Tti1	A	T	2: 157,850,144 (GRCm39)	V365E	probably benign	Het
Tulp4	A	G	17: 6,272,715 (GRCm39)	I590V	probably benign	Het
Vmn2r61	A	G	7: 41,950,121 (GRCm39)	D847G	probably benign	Het
Zfp184	A	G	13: 22,143,442 (GRCm39)	T383A	possibly damaging	Het
Zik1	T	A	7: 10,226,268 (GRCm39)	E33V	probably damaging	Het
Zik1	C	A	7: 10,226,269 (GRCm39)	E33*	probably null	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
IGL02738:Btn2a2	APN	13	23,662,976 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTCTGAGCACTTCTGCTGCAC -3'
(R):5'- TCCAATCCTTGTTCCTGAGGGAGAG -3'

Sequencing Primer
(F):5'- aactctcctactctactcttttacc -3'
(R):5'- CTGAGGGAGAGACCCCAG -3'

Posted On

2014-05-14