Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23661846-23673027 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23664635 bp (GRCm39)

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]

AlphaFold

A4QPC6

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: 35,878,508 (GRCm39)	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,693,739 (GRCm39)	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,203,607 (GRCm39)		probably null	Het
A2ml1	A	G	6: 128,545,726 (GRCm39)	V467A	probably damaging	Het
Abcc3	T	C	11: 94,259,446 (GRCm39)		probably null	Het
Acad10	A	T	5: 121,760,881 (GRCm39)	M941K	probably benign	Het
Agrn	A	G	4: 156,253,759 (GRCm39)	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930 (GRCm39)	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,443,549 (GRCm39)	Y43C	probably damaging	Het
C8b	G	T	4: 104,640,206 (GRCm39)	A170S	probably benign	Het
Cabyr	T	A	18: 12,884,747 (GRCm39)	D411E	probably benign	Het
Capn3	T	C	2: 120,314,964 (GRCm39)		probably benign	Het
Cd200r4	T	C	16: 44,641,313 (GRCm39)	F19L	probably benign	Het
Cflar	T	A	1: 58,774,856 (GRCm39)	Y218N	probably benign	Het
Col11a2	T	C	17: 34,273,154 (GRCm39)	Y630H	probably damaging	Het
Coq6	T	C	12: 84,419,189 (GRCm39)		probably benign	Het
Drg2	A	G	11: 60,350,334 (GRCm39)	T98A	possibly damaging	Het
Fry	T	A	5: 150,419,884 (GRCm39)	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,245,222 (GRCm39)	S240P	probably benign	Het
Glmp	G	A	3: 88,233,718 (GRCm39)	V107I	probably damaging	Het
Gls	A	C	1: 52,272,147 (GRCm39)	M2R	possibly damaging	Het
Igfbp4	A	G	11: 98,939,061 (GRCm39)	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621 (GRCm39)	Y645*	probably null	Het
Kat6a	G	T	8: 23,352,380 (GRCm39)	V55F	probably damaging	Het
Kat8	T	A	7: 127,523,654 (GRCm39)	D292E	possibly damaging	Het
Myo19	T	A	11: 84,776,505 (GRCm39)	C54S	probably damaging	Het
Myo5b	C	T	18: 74,794,726 (GRCm39)	H532Y	probably benign	Het
Nckap1	T	C	2: 80,370,904 (GRCm39)	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,490,752 (GRCm39)	V105M	probably benign	Het
Or2o1	A	G	11: 49,051,620 (GRCm39)	S260G	possibly damaging	Het
Or8b101	A	T	9: 38,020,134 (GRCm39)	I51F	possibly damaging	Het
Or8b1b	T	A	9: 38,375,822 (GRCm39)	C162S	probably benign	Het
Or8c17	T	G	9: 38,179,814 (GRCm39)	S2A	probably benign	Het
Or8k30	T	G	2: 86,339,367 (GRCm39)	L188R	possibly damaging	Het
Palld	T	C	8: 62,162,067 (GRCm39)	D439G	probably damaging	Het
Pcf11	T	C	7: 92,308,828 (GRCm39)		probably benign	Het
Pigo	A	T	4: 43,020,909 (GRCm39)	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,473,283 (GRCm39)		probably null	Het
Plscr3	G	A	11: 69,740,964 (GRCm39)	V267M	probably benign	Het
Pramel24	A	T	4: 143,453,255 (GRCm39)	H121L	probably benign	Het
Prom2	A	G	2: 127,377,593 (GRCm39)		probably benign	Het
Ptk7	A	G	17: 46,876,304 (GRCm39)	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,186,694 (GRCm39)	I1743F	probably benign	Het
Ptprm	A	G	17: 67,116,570 (GRCm39)	V894A	probably benign	Het
Rack1	A	G	11: 48,693,131 (GRCm39)	T105A	probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Sdk1	A	G	5: 141,921,804 (GRCm39)	T267A	probably benign	Het
Slco1a7	T	C	6: 141,700,100 (GRCm39)	Q144R	possibly damaging	Het
Sorcs3	T	A	19: 48,711,395 (GRCm39)	D653E	probably damaging	Het
Spata31e3	G	A	13: 50,399,548 (GRCm39)	S926F	possibly damaging	Het
Spata31f3	A	G	4: 42,873,492 (GRCm39)		probably null	Het
St8sia1	A	G	6: 142,774,751 (GRCm39)	L276P	probably damaging	Het
Sync	T	C	4: 129,188,156 (GRCm39)	V396A	possibly damaging	Het
Taok3	A	G	5: 117,394,002 (GRCm39)	T592A	probably benign	Het
Tas2r104	T	A	6: 131,662,002 (GRCm39)	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,636,293 (GRCm39)	I252S	probably benign	Het
Tmem259	T	C	10: 79,814,282 (GRCm39)	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,873,278 (GRCm39)	N200K	possibly damaging	Het
Usp24	G	A	4: 106,236,263 (GRCm39)	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,286,382 (GRCm39)	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413 (GRCm39)	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,607,466 (GRCm39)	N86H	probably damaging	Het
Zfp12	T	C	5: 143,226,077 (GRCm39)	V72A	probably benign	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
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
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'- ATAGAAAGTTGTGGGGCTTCC -3'
(R):5'- TATAGCAAGAGCCAGCCCTC -3'

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

Posted On

2015-04-02