Mutagenetix > Incidental Mutation

Incidental Mutation 'R8051:Btnl2'

619072

Institutional Source

Beutler Lab

Gene Symbol

Btnl2

Ensembl Gene

ENSMUSG00000024340

Gene Name

butyrophilin-like 2

Synonyms

butyrophylin-like MHC class II associated, BTL-II, BTLN2, NG9

MMRRC Submission

067488-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8051 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34573796-34588469 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34582473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 346 (D346E)

Ref Sequence

ENSEMBL: ENSMUSP00000025198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025198] [ENSMUST00000178562]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025198
AA Change: D346E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025198
Gene: ENSMUSG00000024340
AA Change: D346E

Domain	Start	End	E-Value	Type
IG	35	140	2.16e-8	SMART
Blast:IG_like	150	236	4e-12	BLAST
IGv	262	343	2.89e-9	SMART
Pfam:C2-set_2	361	446	2.6e-6	PFAM
transmembrane domain	457	479	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000178562
AA Change: D346E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137048
Gene: ENSMUSG00000024340
AA Change: D346E

Domain	Start	End	E-Value	Type
IG	35	140	2.16e-8	SMART
Pfam:Ig_3	144	222	5.1e-4	PFAM
Pfam:C2-set_2	146	229	1.8e-6	PFAM
IGv	262	343	2.89e-9	SMART
Pfam:C2-set_2	360	446	3.7e-8	PFAM
Pfam:Ig_2	364	452	4.5e-2	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 78,750,527 (GRCm39)	L1766Q	probably damaging	Het
Adgrl3	A	G	5: 81,613,113 (GRCm39)	Y114C	probably damaging	Het
Ano9	T	A	7: 140,684,445 (GRCm39)	I472F	probably damaging	Het
Arhgap10	A	G	8: 78,244,309 (GRCm39)	F35S	probably damaging	Het
Bltp2	G	A	11: 78,164,238 (GRCm39)		probably benign	Het
C4bp	A	T	1: 130,583,705 (GRCm39)	C88S	probably damaging	Het
Cavin2	A	T	1: 51,340,283 (GRCm39)	Q320L	probably benign	Het
Chtf18	C	A	17: 25,942,453 (GRCm39)	V462L	probably benign	Het
Crisp3	A	T	17: 40,543,451 (GRCm39)	S134R	probably benign	Het
Dlg4	C	A	11: 69,922,468 (GRCm39)		probably benign	Het
Dsc3	A	T	18: 20,114,270 (GRCm39)	M328K	probably damaging	Het
Efemp2	T	A	19: 5,526,095 (GRCm39)	D73E	probably damaging	Het
Fbn1	C	T	2: 125,148,383 (GRCm39)	A2622T	possibly damaging	Het
Flt1	T	C	5: 147,519,501 (GRCm39)	H938R	probably benign	Het
Flt3	T	G	5: 147,295,765 (GRCm39)		probably benign	Het
Fnbp4	T	C	2: 90,608,083 (GRCm39)	V935A	possibly damaging	Het
Frem2	T	C	3: 53,442,776 (GRCm39)	N2587S	probably benign	Het
Gabbr2	C	T	4: 46,736,349 (GRCm39)		probably null	Het
Gm36864	A	T	7: 43,891,976 (GRCm39)	I385F	probably benign	Het
Il17re	G	T	6: 113,436,328 (GRCm39)	R47L	probably benign	Het
Il27ra	A	G	8: 84,760,578 (GRCm39)		probably null	Het
Irf4	A	G	13: 30,945,456 (GRCm39)	I401V	probably damaging	Het
Kat6a	T	C	8: 23,400,265 (GRCm39)	L342S	probably damaging	Het
Klc1	T	A	12: 111,748,384 (GRCm39)	C390S	possibly damaging	Het
Klhl22	A	T	16: 17,610,443 (GRCm39)	I565F	probably damaging	Het
Krt26	A	T	11: 99,228,672 (GRCm39)	L20Q	probably damaging	Het
Lamb3	T	C	1: 193,012,375 (GRCm39)	V384A	possibly damaging	Het
Lmo2	T	A	2: 103,801,045 (GRCm39)	L80Q	possibly damaging	Het
Lrrc37a	T	G	11: 103,393,952 (GRCm39)	E491A	possibly damaging	Het
Ninj1	T	A	13: 49,347,288 (GRCm39)	M51K	probably damaging	Het
Or11g26	C	A	14: 50,753,100 (GRCm39)	N146K	probably benign	Het
Or12d17	G	A	17: 37,777,213 (GRCm39)	G39R	probably damaging	Het
Plppr3	T	A	10: 79,702,838 (GRCm39)	T142S	probably damaging	Het
Rab2b	T	C	14: 52,506,153 (GRCm39)	D103G	probably damaging	Het
Rap1gap2	G	T	11: 74,286,651 (GRCm39)	R550S	probably damaging	Het
Rbm33	A	G	5: 28,557,623 (GRCm39)	N279D	probably damaging	Het
Rhox9	C	T	X: 36,990,253 (GRCm39)	G40R	probably benign	Het
Selplg	G	A	5: 113,957,502 (GRCm39)	T268I	probably damaging	Het
Slc20a1	T	C	2: 129,050,120 (GRCm39)	M426T	possibly damaging	Het
Spata18	A	T	5: 73,827,063 (GRCm39)	Y220F		Het
Spns1	T	C	7: 125,971,708 (GRCm39)	T281A	probably benign	Het
Sptan1	C	T	2: 29,920,171 (GRCm39)	R2288C	probably damaging	Het
Tacstd2	T	C	6: 67,512,383 (GRCm39)	D103G	probably damaging	Het
Tmem121	C	T	12: 113,152,487 (GRCm39)	A235V	probably benign	Het
Try4	A	G	6: 41,281,996 (GRCm39)	D194G	probably damaging	Het
Tyrp1	C	A	4: 80,755,897 (GRCm39)	T222K	probably damaging	Het
Zfp57	T	A	17: 37,320,785 (GRCm39)	V213D	probably damaging	Het
Zfy2	A	T	Y: 2,117,380 (GRCm39)		probably benign	Het
Zkscan4	G	A	13: 21,668,823 (GRCm39)	G454R	not run	Het

Other mutations in Btnl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02251:Btnl2	APN	17	34,582,213 (GRCm39)	nonsense	probably null
IGL02252:Btnl2	APN	17	34,584,364 (GRCm39)	missense	possibly damaging	0.82
IGL02651:Btnl2	APN	17	34,575,196 (GRCm39)	start codon destroyed	probably null	1.00
IGL02892:Btnl2	APN	17	34,581,642 (GRCm39)	missense	possibly damaging	0.61
IGL02939:Btnl2	APN	17	34,580,043 (GRCm39)	missense	probably benign	0.02
IGL03098:Btnl2	UTSW	17	34,584,190 (GRCm39)	missense	probably benign	0.20
R0504:Btnl2	UTSW	17	34,577,091 (GRCm39)	missense	probably benign	0.17
R0706:Btnl2	UTSW	17	34,587,636 (GRCm39)	missense	probably benign	0.21
R1460:Btnl2	UTSW	17	34,585,424 (GRCm39)	missense	probably benign
R1590:Btnl2	UTSW	17	34,580,114 (GRCm39)	missense	possibly damaging	0.86
R1597:Btnl2	UTSW	17	34,582,211 (GRCm39)	missense	probably damaging	1.00
R1880:Btnl2	UTSW	17	34,584,337 (GRCm39)	missense	possibly damaging	0.89
R3009:Btnl2	UTSW	17	34,582,492 (GRCm39)	missense	probably damaging	0.99
R3160:Btnl2	UTSW	17	34,577,039 (GRCm39)	missense	probably damaging	1.00
R3162:Btnl2	UTSW	17	34,577,039 (GRCm39)	missense	probably damaging	1.00
R3722:Btnl2	UTSW	17	34,577,109 (GRCm39)	missense	possibly damaging	0.74
R4760:Btnl2	UTSW	17	34,582,169 (GRCm39)	missense	probably damaging	0.99
R4786:Btnl2	UTSW	17	34,582,322 (GRCm39)	missense	probably damaging	1.00
R4839:Btnl2	UTSW	17	34,584,260 (GRCm39)	nonsense	probably null
R5456:Btnl2	UTSW	17	34,582,295 (GRCm39)	missense	probably benign	0.05
R6959:Btnl2	UTSW	17	34,582,333 (GRCm39)	missense	possibly damaging	0.47
R7011:Btnl2	UTSW	17	34,582,487 (GRCm39)	missense	probably damaging	1.00
R7650:Btnl2	UTSW	17	34,577,103 (GRCm39)	missense	probably damaging	1.00
R7785:Btnl2	UTSW	17	34,580,137 (GRCm39)	missense	probably benign	0.28
R7822:Btnl2	UTSW	17	34,582,288 (GRCm39)	missense	possibly damaging	0.91
R7988:Btnl2	UTSW	17	34,577,249 (GRCm39)	missense	possibly damaging	0.87
R8165:Btnl2	UTSW	17	34,587,682 (GRCm39)	missense	possibly damaging	0.62
R8272:Btnl2	UTSW	17	34,575,275 (GRCm39)	critical splice donor site	probably null
R8531:Btnl2	UTSW	17	34,577,028 (GRCm39)	missense	probably benign	0.15
R9677:Btnl2	UTSW	17	34,580,007 (GRCm39)	missense	possibly damaging	0.94
Z1177:Btnl2	UTSW	17	34,582,493 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- CAGTCCACGTGTATGCAAATG -3'
(R):5'- ACCTCAAATCTGTGTACCCAAGG -3'

Sequencing Primer
(F):5'- AAATGGCACCCACGTGG -3'
(R):5'- CAAATCTGTGTACCCAAGGTTGTGC -3'

Posted On

2020-01-23