Mutagenetix > Incidental Mutation

Incidental Mutation 'R6891:Btn2a2'

537235

Institutional Source

Beutler Lab

Gene Symbol

Btn2a2

Ensembl Gene

ENSMUSG00000053216

Gene Name

butyrophilin, subfamily 2, member A2

Synonyms

MMRRC Submission

044985-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6891 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23661846-23673027 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23667014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 197 (D197G)

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: D197G

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000048251
Gene: ENSMUSG00000053216
AA Change: D197G

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: D197G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106062
Gene: ENSMUSG00000053216
AA Change: D197G

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: D197G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106063
Gene: ENSMUSG00000053216
AA Change: D197G

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: D197G

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	C	T	9: 107,806,346 (GRCm39)	A223V	probably benign	Het
Agbl5	G	T	5: 31,052,522 (GRCm39)	R61L	probably damaging	Het
Agmat	A	T	4: 141,483,192 (GRCm39)	T209S	probably benign	Het
Ankrd34a	G	A	3: 96,505,335 (GRCm39)	V180I	probably benign	Het
Anks1	C	T	17: 28,276,398 (GRCm39)	T1047M	probably damaging	Het
Arhgap21	T	A	2: 20,855,142 (GRCm39)	I1407F	probably damaging	Het
Armc1	C	A	3: 19,189,205 (GRCm39)	C183F	probably damaging	Het
Atg13	A	G	2: 91,516,136 (GRCm39)	M196T	probably benign	Het
AU040320	G	T	4: 126,740,231 (GRCm39)	S864I	possibly damaging	Het
Carmil1	A	G	13: 24,325,706 (GRCm39)	I208T	probably benign	Het
Cbs	T	A	17: 31,841,431 (GRCm39)	R263S	probably damaging	Het
Ccdc7a	C	A	8: 129,753,119 (GRCm39)	R204L	probably damaging	Het
Cdhr1	A	T	14: 36,819,334 (GRCm39)		probably null	Het
Cers4	G	A	8: 4,573,731 (GRCm39)	R378Q	probably damaging	Het
Chst1	T	G	2: 92,444,088 (GRCm39)	L187V	probably benign	Het
Clec4e	A	T	6: 123,260,565 (GRCm39)	N164K	probably damaging	Het
Cln3	T	A	7: 126,181,975 (GRCm39)	D29V	possibly damaging	Het
Crybg2	A	G	4: 133,809,148 (GRCm39)	S187G	probably benign	Het
Ddx1	A	T	12: 13,286,096 (GRCm39)	N285K	probably benign	Het
Dmxl2	A	G	9: 54,387,664 (GRCm39)	I58T	probably damaging	Het
Dock4	A	G	12: 40,829,135 (GRCm39)	Y1007C	probably damaging	Het
Eral1	C	T	11: 77,966,559 (GRCm39)	V234I	possibly damaging	Het
Fads2b	C	A	2: 85,319,149 (GRCm39)	M384I	possibly damaging	Het
Fads2b	T	G	2: 85,319,157 (GRCm39)	T382P	probably damaging	Het
Fam161b	A	G	12: 84,401,554 (GRCm39)	F400S	probably damaging	Het
Fmnl3	T	C	15: 99,223,754 (GRCm39)	D314G	probably damaging	Het
Foxred2	A	T	15: 77,839,909 (GRCm39)	L127Q	probably damaging	Het
Gjd2	G	A	2: 113,843,575 (GRCm39)	A14V	possibly damaging	Het
Gon4l	A	G	3: 88,766,173 (GRCm39)		probably null	Het
Gpr151	T	A	18: 42,711,985 (GRCm39)	D231V	probably benign	Het
Gzf1	A	T	2: 148,526,689 (GRCm39)	K387*	probably null	Het
Hfm1	T	A	5: 107,065,240 (GRCm39)	K146N	possibly damaging	Het
Hgf	G	A	5: 16,809,920 (GRCm39)		probably null	Het
Isoc2b	A	G	7: 4,854,487 (GRCm39)	S15P	probably damaging	Het
Itga5	A	G	15: 103,265,970 (GRCm39)	S126P	probably damaging	Het
Kat6b	A	G	14: 21,719,104 (GRCm39)	D1152G	probably benign	Het
Kcna4	C	T	2: 107,126,652 (GRCm39)	S462F	probably damaging	Het
Kif24	A	T	4: 41,394,168 (GRCm39)	C902S	probably benign	Het
Lama2	A	T	10: 27,204,068 (GRCm39)	C523*	probably null	Het
Lama2	G	C	10: 27,204,078 (GRCm39)	S520*	probably null	Het
Ltf	T	C	9: 110,854,181 (GRCm39)	V332A	probably benign	Het
Mapkap1	T	C	2: 34,453,153 (GRCm39)	F349L	probably damaging	Het
Mdm1	A	G	10: 117,983,937 (GRCm39)	N188D	probably benign	Het
Mfn1	T	C	3: 32,631,252 (GRCm39)	S730P	possibly damaging	Het
Mrgprd	T	A	7: 144,876,087 (GRCm39)	D319E	probably benign	Het
Mrps9	C	A	1: 42,944,573 (GRCm39)	L364I	probably damaging	Het
Myo1h	C	T	5: 114,487,673 (GRCm39)	R626C	probably damaging	Het
Nme3	T	C	17: 25,115,829 (GRCm39)	S61P	probably benign	Het
Or2g1	A	G	17: 38,106,395 (GRCm39)	Q20R	probably benign	Het
Or52e18	A	G	7: 104,609,192 (GRCm39)	I249T	probably damaging	Het
Pald1	A	G	10: 61,184,311 (GRCm39)		probably null	Het
Papola	A	T	12: 105,775,950 (GRCm39)		probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Plch1	T	C	3: 63,605,504 (GRCm39)	T1458A	probably benign	Het
Polr3e	A	G	7: 120,543,873 (GRCm39)	Q659R	probably damaging	Het
Pramel38	C	A	5: 94,365,978 (GRCm39)	P32Q	probably damaging	Het
Shoc2	T	C	19: 53,976,548 (GRCm39)	V146A	probably benign	Het
Slc15a1	T	C	14: 121,713,442 (GRCm39)	T362A	probably benign	Het
Smpd3	A	G	8: 106,991,300 (GRCm39)	Y418H	probably damaging	Het
Sorcs1	A	T	19: 50,213,557 (GRCm39)	C723*	probably null	Het
Supt7l	T	A	5: 31,680,365 (GRCm39)	N16Y	probably damaging	Het
Syngr2	T	C	11: 117,703,499 (GRCm39)	V105A	probably damaging	Het
Thrb	T	A	14: 17,981,899 (GRCm38)	V8E	probably benign	Het
Tlx1	A	T	19: 45,139,757 (GRCm39)	I135F	probably damaging	Het
Tnfaip3	A	G	10: 18,887,417 (GRCm39)	I36T	probably damaging	Het
Troap	A	G	15: 98,980,569 (GRCm39)	Y583C	possibly damaging	Het
Usp17lb	T	C	7: 104,490,307 (GRCm39)	K207E	probably benign	Het
Vmn2r10	C	T	5: 109,149,845 (GRCm39)	V400M	probably damaging	Het
Wdr49	A	T	3: 75,240,590 (GRCm39)		probably null	Het
Wdr64	G	T	1: 175,533,634 (GRCm39)	W90L	probably damaging	Het
Yme1l1	A	G	2: 23,085,401 (GRCm39)	E662G	probably damaging	Het
Zfp334	C	T	2: 165,224,644 (GRCm39)	V68I	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
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
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'- GCAGAGCCAAAGATCCTTCC -3'
(R):5'- ACTCTTTTAGCTGAGCCCTGG -3'

Sequencing Primer
(F):5'- AACCTATTTGCTGAGGAGCC -3'
(R):5'- AGCTGAGCCCTGGTCTTTC -3'

Posted On

2018-10-18