Mutagenetix > Incidental Mutation

Incidental Mutation 'R2122:Btn1a1'

229596

Institutional Source

Beutler Lab

Gene Symbol

Btn1a1

Ensembl Gene

ENSMUSG00000000706

Gene Name

butyrophilin, subfamily 1, member A1

Synonyms

Btn

MMRRC Submission

040126-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2122 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23641162-23650071 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23645691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 226 (L226P)

Ref Sequence

ENSEMBL: ENSMUSP00000041013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041674] [ENSMUST00000110434]

AlphaFold

Q62556

Predicted Effect

probably damaging
Transcript: ENSMUST00000041674
AA Change: L226P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706
AA Change: L226P

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
IGv	46	127	1.97e-11	SMART
IG_like	150	237	9.03e1	SMART
transmembrane domain	246	268	N/A	INTRINSIC
PRY	303	355	2.64e-27	SMART
SPRY	356	477	1.46e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110434

SMART Domains

Protein: ENSMUSP00000106064
Gene: ENSMUSG00000000706

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
IGv	46	127	1.97e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225831

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display impaired lactation and abnormal lipid accumulation in the mammary gland. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	T	7: 120,119,184 (GRCm39)	G975V	probably damaging	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Actl10	G	A	2: 154,394,153 (GRCm39)	R35H	probably damaging	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Arhgef7	A	T	8: 11,778,256 (GRCm39)	N2I	possibly damaging	Het
Blvra	T	G	2: 126,928,817 (GRCm39)	S102A	probably damaging	Het
C2cd4d	G	T	3: 94,270,925 (GRCm39)	E64*	probably null	Het
Ccna2	A	G	3: 36,622,875 (GRCm39)	V209A	probably damaging	Het
Cd55	T	A	1: 130,387,354 (GRCm39)	D148V	possibly damaging	Het
Cdh2	G	A	18: 16,907,600 (GRCm39)	P46L	probably benign	Het
Cldn11	A	G	3: 31,217,300 (GRCm39)	Y156C	probably damaging	Het
Cmtm2a	T	C	8: 105,019,655 (GRCm39)	R12G	possibly damaging	Het
Cog2	T	C	8: 125,255,724 (GRCm39)	S104P	possibly damaging	Het
Col4a3	T	G	1: 82,632,678 (GRCm39)	F184V	unknown	Het
Col4a4	T	A	1: 82,434,592 (GRCm39)	D1406V	unknown	Het
Col6a1	T	C	10: 76,557,332 (GRCm39)	T207A	probably benign	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dcdc2a	T	G	13: 25,303,268 (GRCm39)	S266R	possibly damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Eif2ak4	T	A	2: 118,286,274 (GRCm39)	V1063E	probably damaging	Het
Enpp2	A	T	15: 54,761,188 (GRCm39)	Y44*	probably null	Het
Ep400	A	T	5: 110,856,716 (GRCm39)		probably benign	Het
Exoc6b	A	G	6: 84,598,464 (GRCm39)	M779T	probably benign	Het
F13a1	T	A	13: 37,209,653 (GRCm39)	Y104F	probably benign	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Fscn3	A	G	6: 28,430,388 (GRCm39)	D186G	probably benign	Het
Gm5773	G	A	3: 93,680,624 (GRCm39)	G99R	possibly damaging	Het
Grk1	A	T	8: 13,455,221 (GRCm39)	Y35F	probably benign	Het
Heatr1	T	C	13: 12,418,145 (GRCm39)	V359A	probably benign	Het
Hfm1	A	G	5: 107,044,121 (GRCm39)	S567P	probably damaging	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Kctd5	T	C	17: 24,274,940 (GRCm39)	T212A	probably benign	Het
Krtap5-5	A	T	7: 141,783,240 (GRCm39)	C137S	unknown	Het
Lrp2	T	C	2: 69,314,051 (GRCm39)	T2227A	probably damaging	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Map1a	T	A	2: 121,129,927 (GRCm39)	Y248N	probably damaging	Het
Mdc1	C	T	17: 36,158,835 (GRCm39)	A405V	probably benign	Het
Mfsd4b1	T	C	10: 39,878,647 (GRCm39)	K417E	possibly damaging	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Myh11	T	C	16: 14,035,868 (GRCm39)	E1027G	probably damaging	Het
Nudt6	A	C	3: 37,466,554 (GRCm39)	F80L	probably benign	Het
Nxph1	A	G	6: 9,247,791 (GRCm39)	K254R	probably damaging	Het
Obsl1	C	T	1: 75,470,527 (GRCm39)	R1043H	probably benign	Het
Or10a4	A	T	7: 106,697,316 (GRCm39)	I215F	probably damaging	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Phldb2	T	A	16: 45,583,304 (GRCm39)	I1065F	probably damaging	Het
Ppp1r3a	A	T	6: 14,721,874 (GRCm39)	N317K	possibly damaging	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reg3a	T	C	6: 78,358,119 (GRCm39)	C17R	possibly damaging	Het
Ripor2	A	G	13: 24,897,701 (GRCm39)	S800G	probably damaging	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Rnf31	A	G	14: 55,833,654 (GRCm39)	D554G	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sacs	A	T	14: 61,449,765 (GRCm39)	Q3937L	probably damaging	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Slc20a1	T	G	2: 129,041,739 (GRCm39)	I34S	possibly damaging	Het
Slc25a30	A	G	14: 76,007,658 (GRCm39)	S116P	possibly damaging	Het
Speer4c1	T	A	5: 15,919,115 (GRCm39)	D29V	possibly damaging	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Susd3	A	G	13: 49,384,626 (GRCm39)	Y254H	probably damaging	Het
Tanc2	T	C	11: 105,786,775 (GRCm39)	L858P	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tfpt	C	T	7: 3,631,930 (GRCm39)	R60Q	probably damaging	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Tnfsf9	A	T	17: 57,414,316 (GRCm39)		probably null	Het
Ube3c	T	C	5: 29,824,604 (GRCm39)	I543T	probably benign	Het
Ugt1a2	C	A	1: 88,128,735 (GRCm39)	S126Y	possibly damaging	Het
Vmn1r180	T	A	7: 23,652,566 (GRCm39)	L243Q	probably damaging	Het
Vmn2r15	A	C	5: 109,434,322 (GRCm39)	V794G	probably damaging	Het
Vmn2r24	A	G	6: 123,792,353 (GRCm39)	D560G	possibly damaging	Het
Wdr11	G	A	7: 129,233,490 (GRCm39)	C1028Y	probably damaging	Het
Zfp318	A	G	17: 46,724,297 (GRCm39)	D2100G	probably benign	Het
Zfyve16	A	T	13: 92,655,991 (GRCm39)	Y789*	probably null	Het

Other mutations in Btn1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Btn1a1	APN	13	23,645,907 (GRCm39)	missense	possibly damaging	0.56
IGL01608:Btn1a1	APN	13	23,645,778 (GRCm39)	missense	probably benign	0.00
IGL02538:Btn1a1	APN	13	23,643,385 (GRCm39)	missense	possibly damaging	0.50
IGL02795:Btn1a1	APN	13	23,644,786 (GRCm39)	critical splice acceptor site	probably null
IGL02933:Btn1a1	APN	13	23,644,697 (GRCm39)	missense	possibly damaging	0.63
R0063:Btn1a1	UTSW	13	23,649,267 (GRCm39)	splice site	probably null
R0855:Btn1a1	UTSW	13	23,648,489 (GRCm39)	missense	probably damaging	1.00
R1754:Btn1a1	UTSW	13	23,644,638 (GRCm39)	missense	probably benign	0.01
R3110:Btn1a1	UTSW	13	23,645,721 (GRCm39)	missense	possibly damaging	0.67
R3112:Btn1a1	UTSW	13	23,645,721 (GRCm39)	missense	possibly damaging	0.67
R3941:Btn1a1	UTSW	13	23,643,434 (GRCm39)	missense	probably benign	0.01
R4169:Btn1a1	UTSW	13	23,649,325 (GRCm39)	missense	probably benign
R4924:Btn1a1	UTSW	13	23,648,396 (GRCm39)	splice site	probably benign
R4927:Btn1a1	UTSW	13	23,644,794 (GRCm39)	splice site	probably null
R5255:Btn1a1	UTSW	13	23,648,324 (GRCm39)	intron	probably benign
R5554:Btn1a1	UTSW	13	23,643,295 (GRCm39)	missense	possibly damaging	0.55
R5726:Btn1a1	UTSW	13	23,643,522 (GRCm39)	missense	probably damaging	1.00
R6228:Btn1a1	UTSW	13	23,648,521 (GRCm39)	missense	probably damaging	0.98
R6664:Btn1a1	UTSW	13	23,643,490 (GRCm39)	missense	probably benign	0.00
R7117:Btn1a1	UTSW	13	23,643,415 (GRCm39)	missense	possibly damaging	0.91
R7150:Btn1a1	UTSW	13	23,643,521 (GRCm39)	missense	probably damaging	1.00
R7151:Btn1a1	UTSW	13	23,643,483 (GRCm39)	missense	probably damaging	1.00
R7396:Btn1a1	UTSW	13	23,645,668 (GRCm39)	missense	probably benign	0.01
R7504:Btn1a1	UTSW	13	23,645,886 (GRCm39)	missense	probably benign	0.10
R7874:Btn1a1	UTSW	13	23,643,385 (GRCm39)	missense	possibly damaging	0.50
R7878:Btn1a1	UTSW	13	23,643,214 (GRCm39)	missense	possibly damaging	0.86
R8271:Btn1a1	UTSW	13	23,645,919 (GRCm39)	missense	probably benign
R8354:Btn1a1	UTSW	13	23,648,420 (GRCm39)	missense	probably benign	0.00
R8454:Btn1a1	UTSW	13	23,648,420 (GRCm39)	missense	probably benign	0.00
R8960:Btn1a1	UTSW	13	23,648,741 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CTTAAGTCAGCAGGCAAGAGC -3'
(R):5'- CAGATCCTCAAATCAGTATGACGG -3'

Sequencing Primer
(F):5'- GCAGGCAAGAGCTGTAGG -3'
(R):5'- CCTCAAATCAGTATGACGGTTCAAG -3'

Posted On

2014-09-17