Mutagenetix > Incidental Mutation

Incidental Mutation 'R5670:Btla'

442599

Institutional Source

Beutler Lab

Gene Symbol

Btla

Ensembl Gene

ENSMUSG00000052013

Gene Name

B and T lymphocyte associated

Synonyms

MMRRC Submission

043313-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5670 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45043121-45073258 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45070782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 247 (D247V)

Ref Sequence

ENSEMBL: ENSMUSP00000099866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063654] [ENSMUST00000102802]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000063654
AA Change: D248V

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

SMART Domains

Protein: ENSMUSP00000067877
Gene: ENSMUSG00000052013
AA Change: D248V

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
IG	49	143	2.92e-5	SMART
transmembrane domain	182	204	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102802
AA Change: D247V

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

SMART Domains

Protein: ENSMUSP00000099866
Gene: ENSMUSG00000052013
AA Change: D247V

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
IG	49	143	2.92e-5	SMART
transmembrane domain	181	203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231703

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011]
PHENOTYPE: Targeted inactivation of this gene leads to increased T cell activation. Homozygotes for a null allele show altered peripheral T cell anergy. Homozygotes for a different null allele show enhanced specific antibody responses, increased susceptibility to EAE, and prolonged allograft survival. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	T	C	5: 100,127,068 (GRCm39)		probably benign	Het
Ahsg	T	A	16: 22,716,913 (GRCm39)	N158K	probably benign	Het
Arhgef10	T	C	8: 15,004,774 (GRCm39)	M430T	probably benign	Het
Becn2	C	T	1: 175,749,179 (GRCm39)	T415M	probably damaging	Het
Bmper	T	A	9: 23,384,759 (GRCm39)	M588K	probably damaging	Het
Cap2	T	A	13: 46,684,559 (GRCm39)		probably null	Het
Chd2	A	T	7: 73,091,465 (GRCm39)	I1592K	probably benign	Het
Col4a4	A	G	1: 82,463,300 (GRCm39)		probably null	Het
Copg1	C	T	6: 87,889,217 (GRCm39)	T853M	probably damaging	Het
Ddb2	C	T	2: 91,042,926 (GRCm39)	V353M	probably damaging	Het
Dip2b	A	G	15: 100,087,985 (GRCm39)	D973G	possibly damaging	Het
Dscam	G	A	16: 96,519,364 (GRCm39)	T791I	probably benign	Het
Dtd2	T	A	12: 52,046,643 (GRCm39)	L65F	probably damaging	Het
Fer1l6	C	T	15: 58,494,331 (GRCm39)	P1175S	probably benign	Het
Fzd6	A	T	15: 38,894,510 (GRCm39)	R225S	probably benign	Het
Glce	A	G	9: 61,967,793 (GRCm39)	S453P	probably damaging	Het
Gm4787	G	A	12: 81,424,805 (GRCm39)	T451I	probably benign	Het
Igkv8-18	C	T	6: 70,333,133 (GRCm39)	T25I	probably benign	Het
Ikzf2	A	G	1: 69,617,059 (GRCm39)	V96A	probably benign	Het
Ilkap	T	C	1: 91,318,863 (GRCm39)	T38A	probably benign	Het
Lpin3	A	G	2: 160,739,250 (GRCm39)	T353A	probably benign	Het
Mfsd8	A	T	3: 40,776,484 (GRCm39)	N389K	probably benign	Het
Mttp	A	T	3: 137,830,874 (GRCm39)	V65D	probably damaging	Het
Ndufaf4	A	T	4: 24,898,636 (GRCm39)	D64V	probably damaging	Het
Nfe2l2	T	C	2: 75,507,462 (GRCm39)	T213A	probably benign	Het
Nkain4	A	G	2: 180,584,995 (GRCm39)	L73P	probably damaging	Het
Nwd1	T	A	8: 73,419,745 (GRCm39)	S977T	probably damaging	Het
Or1l4	T	A	2: 37,092,006 (GRCm39)	V251D	probably benign	Het
Or2y1d	T	G	11: 49,322,035 (GRCm39)	L244R	probably damaging	Het
Or4b12	T	C	2: 90,096,308 (GRCm39)	I155M	probably benign	Het
Or5k1	G	A	16: 58,617,424 (GRCm39)	P262S	possibly damaging	Het
Pdgfra	T	C	5: 75,334,156 (GRCm39)	S410P	probably benign	Het
Phldb1	T	C	9: 44,627,078 (GRCm39)	M456V	probably damaging	Het
Pi16	C	T	17: 29,545,870 (GRCm39)	T216I	probably damaging	Het
Plekha2	C	A	8: 25,549,254 (GRCm39)	A177S	probably benign	Het
Pramel29	A	G	4: 143,936,192 (GRCm39)	S23P	probably benign	Het
Prss16	C	T	13: 22,187,221 (GRCm39)	V450I	possibly damaging	Het
Rab3gap2	T	A	1: 185,009,402 (GRCm39)	L1086H	probably damaging	Het
Rab3gap2	C	T	1: 184,954,096 (GRCm39)	P56L	probably benign	Het
Rgs21	A	G	1: 144,412,680 (GRCm39)	V48A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf213	A	G	11: 119,325,512 (GRCm39)		probably null	Het
Slc4a2	G	T	5: 24,639,836 (GRCm39)	V506L	probably damaging	Het
Sptbn5	C	G	2: 119,916,048 (GRCm39)		probably benign	Het
Steap2	C	T	5: 5,723,681 (GRCm39)	V400I	probably benign	Het
Syne2	G	A	12: 75,997,733 (GRCm39)	G2236D	probably benign	Het
Tespa1	T	C	10: 130,190,624 (GRCm39)	S84P	probably damaging	Het
Tlx2	G	A	6: 83,046,807 (GRCm39)	A85V	possibly damaging	Het
Tm4sf1	A	T	3: 57,200,508 (GRCm39)	F65I	probably benign	Het
Tmprss13	A	G	9: 45,256,253 (GRCm39)	I456V	probably damaging	Het
Tpte	C	T	8: 22,817,764 (GRCm39)	S250F	probably damaging	Het
Trim24	T	C	6: 37,942,536 (GRCm39)	F946S	probably benign	Het
Vmn2r10	A	T	5: 109,146,910 (GRCm39)	Y459*	probably null	Het
Vps54	T	A	11: 21,214,864 (GRCm39)	I112N	probably damaging	Het
Vwa1	A	G	4: 155,858,922 (GRCm39)	L13P	probably damaging	Het
Zfp648	C	A	1: 154,079,963 (GRCm39)	Q41K	probably benign	Het

Other mutations in Btla

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Btla	APN	16	45,070,716 (GRCm39)	missense	probably benign	0.34
IGL01774:Btla	APN	16	45,070,911 (GRCm39)	missense	possibly damaging	0.78
IGL03252:Btla	APN	16	45,059,509 (GRCm39)	missense	possibly damaging	0.56
IGL03266:Btla	APN	16	45,059,638 (GRCm39)	missense	probably damaging	0.98
Conundrum	UTSW	16	45,059,661 (GRCm39)	missense	probably damaging	1.00
Enigmatic	UTSW	16	45,059,402 (GRCm39)	splice site	probably null
Mysterious	UTSW	16	45,070,936 (GRCm39)	nonsense	probably null
R1373:Btla	UTSW	16	45,044,783 (GRCm39)	missense	probably benign	0.09
R1864:Btla	UTSW	16	45,070,737 (GRCm39)	missense	probably damaging	0.97
R2439:Btla	UTSW	16	45,059,503 (GRCm39)	missense	probably damaging	1.00
R4133:Btla	UTSW	16	45,059,661 (GRCm39)	missense	probably damaging	1.00
R4193:Btla	UTSW	16	45,070,845 (GRCm39)	missense	probably benign	0.00
R4948:Btla	UTSW	16	45,063,091 (GRCm39)	missense	probably benign	0.33
R5597:Btla	UTSW	16	45,064,599 (GRCm39)	missense	probably benign
R5666:Btla	UTSW	16	45,070,782 (GRCm39)	missense	probably damaging	1.00
R5700:Btla	UTSW	16	45,070,936 (GRCm39)	nonsense	probably null
R5859:Btla	UTSW	16	45,059,402 (GRCm39)	splice site	probably null
R6442:Btla	UTSW	16	45,070,713 (GRCm39)	missense	possibly damaging	0.82
R6442:Btla	UTSW	16	45,044,821 (GRCm39)	missense	probably benign	0.00
R6526:Btla	UTSW	16	45,059,457 (GRCm39)	missense	probably damaging	1.00
R6883:Btla	UTSW	16	45,063,092 (GRCm39)	missense	probably benign	0.09
R8016:Btla	UTSW	16	45,070,950 (GRCm39)	missense	probably damaging	0.99
R8098:Btla	UTSW	16	45,064,612 (GRCm39)	nonsense	probably null
R8803:Btla	UTSW	16	45,059,430 (GRCm39)	missense	probably benign	0.06
R9091:Btla	UTSW	16	45,064,656 (GRCm39)	missense	possibly damaging	0.72
R9270:Btla	UTSW	16	45,064,656 (GRCm39)	missense	possibly damaging	0.72
R9388:Btla	UTSW	16	45,059,454 (GRCm39)	missense	probably damaging	1.00
R9686:Btla	UTSW	16	45,070,872 (GRCm39)	missense	probably damaging	1.00
Z1176:Btla	UTSW	16	45,059,721 (GRCm39)	missense	probably damaging	0.98
Z1177:Btla	UTSW	16	45,059,635 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TTATAGGAGGGACAAAATGCTTGAC -3'
(R):5'- ACAGAGGTATTGACAGGCACTC -3'

Sequencing Primer
(F):5'- GACATAATGTAGCCTTTCCCTCATAG -3'
(R):5'- AGTGGCAGGTTTAACTTCTCACAC -3'

Posted On

2016-11-09