Mutagenetix > Incidental Mutation

Incidental Mutation 'R9074:Btc'

689661

Institutional Source

Beutler Lab

Gene Symbol

Btc

Ensembl Gene

ENSMUSG00000082361

Gene Name

betacellulin, epidermal growth factor family member

Synonyms

MMRRC Submission

068895-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91505120-91550853 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 91508603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121044] [ENSMUST00000200860]

AlphaFold

Q05928

Predicted Effect

probably null
Transcript: ENSMUST00000121044

SMART Domains

Protein: ENSMUSP00000112765
Gene: ENSMUSG00000082361

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
EGF	68	105	4.32e-1	SMART
transmembrane domain	117	139	N/A	INTRINSIC
low complexity region	145	165	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200860

SMART Domains

Protein: ENSMUSP00000143920
Gene: ENSMUSG00000082361

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: This gene encodes a member of the epidermal growth factor (EGF) family. These growth factors are ligands for the EGFR/ErbB receptor tyrosine kinases, and play roles in cell growth and differentiation. The encoded protein is synthesized as a transmembrane precursor that is proteolytically cleaved to generate a mature peptide, and plays a role in the differentiation of pancreatic beta cells. This gene may also play a protective role in acute pancreatitis, whereas increased expression of this gene may contribute to diabetic macular edema. Gene therapy using combinations of this gene and other pancreas-specific transcription factors may induce islet neogenesis and remediate hyperglycemia in type 1 diabetes. [provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and exhibit no overt defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,972,257 (GRCm39)		silent	Het
Ackr2	T	A	9: 121,737,729 (GRCm39)	C35S	probably damaging	Het
Adcy8	T	A	15: 64,573,940 (GRCm39)	K1054N	probably damaging	Het
Adgrf1	A	T	17: 43,601,879 (GRCm39)		probably benign	Het
Akap9	T	A	5: 4,127,959 (GRCm39)	I3765K	probably benign	Het
Brwd1	A	T	16: 95,824,610 (GRCm39)	F1219I		Het
Cd163	C	T	6: 124,285,947 (GRCm39)	R166*	probably null	Het
Cfap52	G	A	11: 67,822,656 (GRCm39)	S405L	probably benign	Het
Clcn2	A	G	16: 20,531,414 (GRCm39)	L210P	possibly damaging	Het
Creb3l3	T	A	10: 80,924,452 (GRCm39)		probably null	Het
Csn1s2a	A	T	5: 87,934,458 (GRCm39)	I144F	probably benign	Het
Dedd	G	T	1: 171,167,888 (GRCm39)		probably benign	Het
Eef2k	C	T	7: 120,491,124 (GRCm39)	R537C	probably damaging	Het
Epas1	A	T	17: 87,135,267 (GRCm39)	R633S	probably benign	Het
Fmn2	C	A	1: 174,436,198 (GRCm39)	T723N	unknown	Het
Frmd4a	G	T	2: 4,608,765 (GRCm39)	G878W	probably damaging	Het
Ggcx	T	G	6: 72,402,924 (GRCm39)	F294C	probably damaging	Het
Ghr	G	A	15: 3,370,470 (GRCm39)	P132S	possibly damaging	Het
Gm15446	A	T	5: 110,091,299 (GRCm39)	H517L	probably damaging	Het
Gm5862	T	C	5: 26,226,624 (GRCm39)	T93A	probably damaging	Het
Gnb1l	T	A	16: 18,359,745 (GRCm39)	I50N	probably damaging	Het
Greb1l	A	G	18: 10,532,797 (GRCm39)	Y897C	probably damaging	Het
Greb1l	T	C	18: 10,558,795 (GRCm39)	C1817R	probably damaging	Het
Ier5	C	A	1: 154,974,275 (GRCm39)	W301L	probably damaging	Het
Irf2bp2	A	G	8: 127,318,456 (GRCm39)	L370P	probably benign	Het
Itga9	T	A	9: 118,636,344 (GRCm39)	N677K	probably damaging	Het
Itgb7	G	T	15: 102,132,797 (GRCm39)	R172S		Het
Kdm6b	A	T	11: 69,292,977 (GRCm39)	C1266*	probably null	Het
Kmt2c	A	T	5: 25,489,343 (GRCm39)	V4532E	probably damaging	Het
Kprp	A	C	3: 92,732,226 (GRCm39)	F275V	probably damaging	Het
Lrrc4	C	A	6: 28,831,595 (GRCm39)	V7L	probably damaging	Het
Map3k21	G	A	8: 126,664,050 (GRCm39)	R537H	probably damaging	Het
Mchr1	T	G	15: 81,119,980 (GRCm39)	D2E	probably benign	Het
Mixl1	T	C	1: 180,522,245 (GRCm39)	D212G	probably damaging	Het
Mup2	T	C	4: 60,139,717 (GRCm39)	T24A	probably benign	Het
Naip2	C	T	13: 100,291,459 (GRCm39)	D1160N	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Naip5	T	C	13: 100,358,264 (GRCm39)	K991E	possibly damaging	Het
Ndufb11b	T	A	15: 81,865,011 (GRCm39)	M84K	probably damaging	Het
Nfe2l1	G	A	11: 96,710,573 (GRCm39)	A552V	possibly damaging	Het
Or2p2	C	T	13: 21,256,784 (GRCm39)	R229H	possibly damaging	Het
Or51r1	T	G	7: 102,228,433 (GRCm39)	S244A	probably damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Pds5a	A	G	5: 65,804,479 (GRCm39)	S527P	possibly damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pgc	T	A	17: 48,043,351 (GRCm39)	V233E	probably damaging	Het
Pias1	T	C	9: 62,888,164 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,556,246 (GRCm39)	W72R	unknown	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Proc	A	G	18: 32,268,950 (GRCm39)	S12P	possibly damaging	Het
Rida	T	A	15: 34,488,823 (GRCm39)	Q23L	probably damaging	Het
Slc22a8	A	G	19: 8,587,025 (GRCm39)	E406G	possibly damaging	Het
Slc2a7	A	G	4: 150,242,625 (GRCm39)	T238A	probably benign	Het
Spata31h1	T	A	10: 82,123,894 (GRCm39)	S3039C	possibly damaging	Het
Spp1	A	G	5: 104,588,167 (GRCm39)	I190V	probably benign	Het
Srgap1	T	C	10: 121,628,257 (GRCm39)	D882G	probably damaging	Het
Ssrp1	T	A	2: 84,875,811 (GRCm39)	W557R	probably damaging	Het
Strn	C	G	17: 79,043,790 (GRCm39)	A43P	probably benign	Het
Taf6	A	C	5: 138,180,465 (GRCm39)	Y300D	probably damaging	Het
Tesk2	A	G	4: 116,658,933 (GRCm39)	Y270C	probably damaging	Het
Tnnt3	T	A	7: 142,065,823 (GRCm39)	D153E	probably benign	Het
Ubl7	A	G	9: 57,826,637 (GRCm39)	H117R	possibly damaging	Het
Vcan	T	A	13: 89,839,146 (GRCm39)	T2133S	possibly damaging	Het
Vrk2	T	A	11: 26,543,917 (GRCm39)		probably benign	Het
Wdr72	A	C	9: 74,125,902 (GRCm39)	Q1011P	possibly damaging	Het
Wls	T	A	3: 159,615,403 (GRCm39)	I306N	possibly damaging	Het
Zfp654	A	G	16: 64,611,496 (GRCm39)	S283P	probably damaging	Het
Zfp956	C	T	6: 47,939,462 (GRCm39)	T170I	possibly damaging	Het

Other mutations in Btc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02434:Btc	APN	5	91,510,186 (GRCm39)	missense	probably damaging	0.98
R1570:Btc	UTSW	5	91,550,576 (GRCm39)	missense	unknown
R1929:Btc	UTSW	5	91,510,260 (GRCm39)	missense	probably damaging	1.00
R2379:Btc	UTSW	5	91,524,768 (GRCm39)	splice site	probably benign
R4965:Btc	UTSW	5	91,510,160 (GRCm39)	splice site	probably null
R5344:Btc	UTSW	5	91,524,779 (GRCm39)	missense	possibly damaging	0.77
R5928:Btc	UTSW	5	91,514,004 (GRCm39)	missense	probably damaging	0.98
R7072:Btc	UTSW	5	91,550,796 (GRCm39)	unclassified	probably benign
R8910:Btc	UTSW	5	91,508,671 (GRCm39)	missense	probably benign	0.00
R9157:Btc	UTSW	5	91,513,980 (GRCm39)	missense	probably damaging	1.00
R9307:Btc	UTSW	5	91,550,515 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGAAAGAGTGGAATGTCCTTTAAAC -3'
(R):5'- GCATAGAATTAAGGCCCTGGG -3'

Sequencing Primer
(F):5'- TTTAGCCTGTTCAAACAAACAAAC -3'
(R):5'- CTGGGCTCTCTTATTGAATATTTGC -3'

Posted On

2021-11-19