Mutagenetix > Incidental Mutation

Incidental Mutation 'R9261:Gcg'

723635

Institutional Source

Beutler Lab

Gene Symbol

Gcg

Ensembl Gene

ENSMUSG00000000394

Gene Name

glucagon

Synonyms

Glu, GLP-1, glucagon-like peptide I, PPG

MMRRC Submission

068990-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R9261 (G1)

Quality Score

57.0073

Status

Validated

Chromosome

Chromosomal Location

62304874-62313994 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 62306408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102733] [ENSMUST00000136686]

AlphaFold

P55095

Predicted Effect

probably benign
Transcript: ENSMUST00000102733

SMART Domains

Protein: ENSMUSP00000099794
Gene: ENSMUSG00000000394

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
GLUCA	53	79	7.5e-15	SMART
GLUCA	98	124	4.06e-11	SMART
GLUCA	146	172	1.97e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136686

SMART Domains

Protein: ENSMUSP00000115892
Gene: ENSMUSG00000000394

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
GLUCA	53	79	7.5e-15	SMART
GLUCA	98	124	4.06e-11	SMART
GLUCA	146	172	1.97e-9	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: This gene encodes glucagon, a pancreatic hormone that counteracts the action of insulin in the bloodstream. The encoded protein is processed to generate glucagon and two other glucagon-like peptides, GLP1 and GLP2. Glucagon stimulates gluconeogenesis, glycogenolysis and lipolysis. GLP1 induces secretion of insulin, suppresses glucagon secretion and inhibits feeding. GLP2 induces intestinal absorption of glucose by stimulating the growth of intestinal cells and preventing apoptosis. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit islet alpha cell hyperplasia and increased body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,075,397 (GRCm39)	E1043G	probably benign	Het
Agps	T	G	2: 75,684,850 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,993,503 (GRCm39)	E4929G	possibly damaging	Het
Arl6ip4	T	A	5: 124,256,146 (GRCm39)		probably benign	Het
Cdhr17	T	C	5: 17,006,547 (GRCm39)	L88P	possibly damaging	Het
Clca3a2	G	T	3: 144,525,158 (GRCm39)	H25N	probably benign	Het
Cubn	C	T	2: 13,283,262 (GRCm39)	D3559N	probably damaging	Het
Dmac2	T	A	7: 25,320,345 (GRCm39)	W15R	probably benign	Het
Dzank1	T	C	2: 144,355,344 (GRCm39)	E117G	probably benign	Het
Eml2	A	G	7: 18,913,743 (GRCm39)	T187A	probably benign	Het
Eml5	A	G	12: 98,822,287 (GRCm39)	V747A	probably damaging	Het
Esr1	T	A	10: 4,919,271 (GRCm39)	S454T	probably damaging	Het
Evc2	A	G	5: 37,537,895 (GRCm39)	T528A	probably benign	Het
Fbxo5	T	C	10: 5,752,325 (GRCm39)	N96S	probably damaging	Het
Fcnb	T	C	2: 27,969,636 (GRCm39)	T144A	probably damaging	Het
Fgf20	T	A	8: 40,739,951 (GRCm39)		probably benign	Het
Gfm2	T	A	13: 97,299,369 (GRCm39)	Y363*	probably null	Het
Grwd1	C	T	7: 45,475,381 (GRCm39)	R387Q	probably benign	Het
Gstt2	C	T	10: 75,669,511 (GRCm39)	D59N	possibly damaging	Het
Herc1	A	G	9: 66,412,129 (GRCm39)	N4783S	probably damaging	Het
Hydin	C	A	8: 110,994,047 (GRCm39)	A27E	unknown	Het
Iigp1c	T	A	18: 60,353,820 (GRCm39)		probably benign	Het
Ikbip	A	G	10: 90,932,249 (GRCm39)	T298A	possibly damaging	Het
Il1rap	A	G	16: 26,541,724 (GRCm39)	N655S	possibly damaging	Het
Kif21b	C	T	1: 136,077,162 (GRCm39)	R395C	probably damaging	Het
Kif3a	ATTGACG	A	11: 53,484,248 (GRCm39)		probably benign	Het
Klhl40	A	G	9: 121,609,002 (GRCm39)	D389G	probably benign	Het
Ly6g	A	G	15: 75,030,529 (GRCm39)	T116A	probably damaging	Het
Mast2	A	G	4: 116,165,900 (GRCm39)	L1276P	probably damaging	Het
Mitf	A	G	6: 97,990,704 (GRCm39)	Q369R	possibly damaging	Het
Mtus2	T	A	5: 148,243,453 (GRCm39)	Y192*	probably null	Het
Nav1	T	A	1: 135,388,095 (GRCm39)	E1109D	unknown	Het
Nav2	A	G	7: 49,246,904 (GRCm39)	E2143G	probably damaging	Het
Nedd4	A	G	9: 72,584,656 (GRCm39)	Q119R	possibly damaging	Het
Nek9	A	G	12: 85,359,841 (GRCm39)	V537A	probably damaging	Het
Notum	G	T	11: 120,550,974 (GRCm39)	T64K		Het
Nudcd2	A	G	11: 40,630,026 (GRCm39)	N144S	probably damaging	Het
Nup205	A	G	6: 35,176,792 (GRCm39)	E596G	probably benign	Het
Olfml1	T	A	7: 107,167,007 (GRCm39)	L12Q	possibly damaging	Het
Or4f60	T	A	2: 111,902,718 (GRCm39)	D70V	probably damaging	Het
Or51k1	C	T	7: 103,661,336 (GRCm39)	C191Y	probably damaging	Het
Or52n2c	A	T	7: 104,574,305 (GRCm39)	M222K	probably benign	Het
Or56b2	T	A	7: 104,337,260 (GRCm39)	F13I	probably benign	Het
Or6b13	A	G	7: 139,782,563 (GRCm39)	V40A	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Padi4	T	C	4: 140,479,926 (GRCm39)	N409S	probably damaging	Het
Pam	T	A	1: 97,903,620 (GRCm39)	T38S	probably benign	Het
Piezo2	T	C	18: 63,208,868 (GRCm39)	I1382V	possibly damaging	Het
Pla2g12a	A	T	3: 129,684,080 (GRCm39)	Q153L	possibly damaging	Het
Pla2g4e	T	A	2: 120,019,910 (GRCm39)	H180L	probably benign	Het
Pou2af2	T	A	9: 51,202,998 (GRCm39)	H52L	probably benign	Het
Pprc1	A	G	19: 46,050,868 (GRCm39)	T169A	unknown	Het
Prrc2c	A	G	1: 162,505,622 (GRCm39)	I2592T	possibly damaging	Het
Ptchd3	T	A	11: 121,722,956 (GRCm39)	I348N	probably damaging	Het
Ralgps1	T	C	2: 33,226,571 (GRCm39)	D40G	probably damaging	Het
Rbm19	T	C	5: 120,256,810 (GRCm39)	F41S	probably damaging	Het
Rbsn	T	C	6: 92,166,797 (GRCm39)	M616V	probably benign	Het
Ryr1	A	T	7: 28,751,813 (GRCm39)	M3660K	possibly damaging	Het
Sidt2	A	T	9: 45,861,396 (GRCm39)	V246E	probably damaging	Het
Slc4a4	T	C	5: 89,347,568 (GRCm39)	W770R	probably damaging	Het
Spata31d1c	T	A	13: 65,184,680 (GRCm39)	S741T	probably damaging	Het
Stk19	T	G	17: 35,051,432 (GRCm39)	Y108S	possibly damaging	Het
Stox2	T	C	8: 47,645,441 (GRCm39)	E673G	possibly damaging	Het
Tax1bp1	T	A	6: 52,714,116 (GRCm39)	C271S	probably benign	Het
Tmem161a	C	A	8: 70,631,572 (GRCm39)	R167S	probably damaging	Het
Tnrc6c	T	A	11: 117,605,105 (GRCm39)	V80E	probably damaging	Het
Trpa1	G	A	1: 14,963,465 (GRCm39)	H586Y	probably damaging	Het
Tsr1	A	G	11: 74,799,056 (GRCm39)	T746A	probably damaging	Het
Uqcrfs1	T	C	13: 30,724,794 (GRCm39)	I249V	probably damaging	Het
Vmn2r84	C	A	10: 130,229,976 (GRCm39)	E45D	probably benign	Het
Vnn3	A	G	10: 23,741,607 (GRCm39)	E304G	probably damaging	Het
Zfp541	G	A	7: 15,816,029 (GRCm39)	V839M	possibly damaging	Het
Zfp62	A	G	11: 49,108,350 (GRCm39)	K814E	probably benign	Het

Other mutations in Gcg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Gcg	APN	2	62,310,827 (GRCm39)	missense	possibly damaging	0.86
IGL02582:Gcg	APN	2	62,308,922 (GRCm39)	nonsense	probably null
R0466:Gcg	UTSW	2	62,307,282 (GRCm39)	missense	probably damaging	0.99
R3620:Gcg	UTSW	2	62,307,279 (GRCm39)	missense	probably damaging	0.96
R3621:Gcg	UTSW	2	62,307,279 (GRCm39)	missense	probably damaging	0.96
R4744:Gcg	UTSW	2	62,308,975 (GRCm39)	missense	probably damaging	1.00
R4859:Gcg	UTSW	2	62,307,189 (GRCm39)	missense	probably damaging	0.96
R5807:Gcg	UTSW	2	62,306,069 (GRCm39)	missense	possibly damaging	0.54
R5971:Gcg	UTSW	2	62,306,148 (GRCm39)	missense	probably damaging	1.00
R6138:Gcg	UTSW	2	62,306,148 (GRCm39)	missense	probably damaging	1.00
R7191:Gcg	UTSW	2	62,307,183 (GRCm39)	missense	probably damaging	1.00
R7522:Gcg	UTSW	2	62,306,103 (GRCm39)	missense	probably benign	0.32
R8188:Gcg	UTSW	2	62,309,004 (GRCm39)	missense	probably damaging	0.96
R8746:Gcg	UTSW	2	62,305,325 (GRCm39)	missense	probably damaging	1.00
R9273:Gcg	UTSW	2	62,306,133 (GRCm39)	missense	probably null	0.44
U15987:Gcg	UTSW	2	62,306,148 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGCGACTTCTTCTGGGAAG -3'
(R):5'- AGCTGGAATTTTAACCCCTTCCTG -3'

Sequencing Primer
(F):5'- CGACTTCTTCTGGGAAGCTAAG -3'
(R):5'- TGCTAAATTTTGCCAGACTGC -3'

Posted On

2022-09-12