Mutagenetix > Incidental Mutation

Incidental Mutation 'R9388:Btla'

710452

Institutional Source

Beutler Lab

Gene Symbol

Btla

Ensembl Gene

ENSMUSG00000052013

Gene Name

B and T lymphocyte associated

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9388 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45043121-45073258 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45059454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 53 (S53P)

Ref Sequence

ENSEMBL: ENSMUSP00000067877 (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: S53P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000067877
Gene: ENSMUSG00000052013
AA Change: S53P

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: S53P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099866
Gene: ENSMUSG00000052013
AA Change: S53P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,338,714 (GRCm39)	T433S	probably benign	Het
Abca14	A	G	7: 119,882,261 (GRCm39)	D1141G	probably benign	Het
Abca17	A	G	17: 24,483,273 (GRCm39)	S1728P	unknown	Het
Adam29	A	C	8: 56,325,285 (GRCm39)	C390G	probably damaging	Het
Angptl4	G	A	17: 33,996,158 (GRCm39)	R273*	probably null	Het
Arfgef3	T	C	10: 18,505,877 (GRCm39)	N929S	probably benign	Het
Baiap3	A	G	17: 25,466,109 (GRCm39)		probably null	Het
Cand1	A	G	10: 119,047,213 (GRCm39)	F759S	possibly damaging	Het
Cbll1	T	C	12: 31,541,567 (GRCm39)	T104A	probably benign	Het
Chd7	A	G	4: 8,865,756 (GRCm39)	M2688V	possibly damaging	Het
Cnot3	C	A	7: 3,661,367 (GRCm39)	H625Q	possibly damaging	Het
Dbn1	T	C	13: 55,624,088 (GRCm39)	I381V	probably benign	Het
Dennd2d	T	A	3: 106,395,915 (GRCm39)	N135K	possibly damaging	Het
Dnah7c	T	C	1: 46,779,886 (GRCm39)	I3196T	probably damaging	Het
Dock2	C	A	11: 34,212,460 (GRCm39)	R1227L	possibly damaging	Het
Esr1	A	G	10: 4,919,179 (GRCm39)	E423G	probably benign	Het
Ganab	A	G	19: 8,892,302 (GRCm39)	Q826R	probably damaging	Het
Herc4	T	A	10: 63,143,522 (GRCm39)	M684K	probably benign	Het
Hipk2	A	G	6: 38,707,956 (GRCm39)	L613P	probably damaging	Het
Hpf1	A	T	8: 61,353,182 (GRCm39)	I188L	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Kif1a	C	A	1: 93,000,029 (GRCm39)		probably null	Het
Kng1	A	T	16: 22,898,388 (GRCm39)	Y596F	possibly damaging	Het
Lrrc8d	T	A	5: 105,961,862 (GRCm39)	H757Q	probably damaging	Het
Med24	A	T	11: 98,600,893 (GRCm39)	I600N	possibly damaging	Het
Mmp10	G	A	9: 7,504,170 (GRCm39)	W203*	probably null	Het
Mnt	C	T	11: 74,727,450 (GRCm39)	A112V	probably benign	Het
Myh7b	A	T	2: 155,472,983 (GRCm39)	N1415Y	probably benign	Het
Nipal1	T	A	5: 72,825,557 (GRCm39)	*417R	probably null	Het
Nlrp4c	C	T	7: 6,069,874 (GRCm39)	Q592*	probably null	Het
Obscn	T	C	11: 58,943,489 (GRCm39)	E4220G	probably damaging	Het
Or10al7	C	T	17: 38,366,148 (GRCm39)	C103Y	probably damaging	Het
Or13a23-ps1	G	T	7: 140,118,928 (GRCm39)	C166F	unknown	Het
Or2w1b	T	C	13: 21,300,774 (GRCm39)	L304P	probably damaging	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,853 (GRCm39)	I460F	probably benign	Het
Prb1b	T	C	6: 132,289,437 (GRCm39)	Q129R	unknown	Het
Primpol	G	A	8: 47,034,605 (GRCm39)	T441I	possibly damaging	Het
Ptprc	A	G	1: 138,011,380 (GRCm39)	V583A	possibly damaging	Het
Rfx6	T	C	10: 51,554,117 (GRCm39)	V71A	possibly damaging	Het
Rgsl1	T	C	1: 153,693,355 (GRCm39)	I574V	probably benign	Het
Rims3	A	G	4: 120,748,552 (GRCm39)	I258V	possibly damaging	Het
Sec16b	T	C	1: 157,388,393 (GRCm39)	Y776H	probably benign	Het
Skint6	C	T	4: 113,049,838 (GRCm39)	D276N	possibly damaging	Het
Slc45a1	T	C	4: 150,727,067 (GRCm39)	D184G	probably damaging	Het
St6galnac4	A	T	2: 32,479,625 (GRCm39)	S61C	probably damaging	Het
Stab1	C	T	14: 30,876,312 (GRCm39)	V926M	probably damaging	Het
Stat1	A	T	1: 52,193,037 (GRCm39)	K642N	possibly damaging	Het
Tmprss3	A	G	17: 31,410,041 (GRCm39)	F191S	probably damaging	Het
Ube2o	T	C	11: 116,430,210 (GRCm39)	D1176G	possibly damaging	Het
Usp17ld	G	T	7: 102,900,145 (GRCm39)	N262K	probably benign	Het
Xpnpep1	T	C	19: 52,993,233 (GRCm39)	K365E	probably damaging	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
R5670: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
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'- TACCACACTGGAATACTGAAGG -3'
(R):5'- TACGACCCATTATCACTGAGATG -3'

Sequencing Primer
(F):5'- CCACACTGGAATACTGAAGGTAAAG -3'
(R):5'- CGACCCATTATCACTGAGATGTATTG -3'

Posted On

2022-04-18