Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02286:Gcgr'

289987

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gcgr

Ensembl Gene

ENSMUSG00000025127

Gene Name

glucagon receptor

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02286

Quality Score

Status

Chromosome

Chromosomal Location

120421525-120429812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120428757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 354 (T354A)

Ref Sequence

ENSEMBL: ENSMUSP00000026119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026119] [ENSMUST00000034913]

AlphaFold

Q61606

Predicted Effect

probably damaging
Transcript: ENSMUST00000026119
AA Change: T354A

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

SMART Domains

Protein: ENSMUSP00000026119
Gene: ENSMUSG00000025127
AA Change: T354A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
HormR	55	131	4.94e-27	SMART
Pfam:7tm_2	139	397	6.4e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000034913

SMART Domains

Protein: ENSMUSP00000034913
Gene: ENSMUSG00000061111

Domain	Start	End	E-Value	Type
Pfam:FAM195	4	94	3.3e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143063

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147877

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glucagon receptor that is important in controlling blood glucose levels. Defects in this gene are a cause of non-insulin-dependent diabetes mellitus (NIDDM).[provided by RefSeq, Jan 2010]
PHENOTYPE: Animals homozygous for a targeted mutation in this gene exhibit reduced blood glucose levels and increased plasma glucagon and amino acid levels associated with alpha-cell hyperplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dab1	A	G	4: 104,537,267 (GRCm39)	T187A	probably damaging	Het
Eno2	C	T	6: 124,743,543 (GRCm39)	R132H	probably damaging	Het
Fgb	T	G	3: 82,950,633 (GRCm39)	M374L	probably benign	Het
Fgf21	T	C	7: 45,264,561 (GRCm39)	D57G	possibly damaging	Het
Gm12790	T	C	4: 101,824,918 (GRCm39)	T117A	probably benign	Het
Myo18a	C	T	11: 77,668,811 (GRCm39)	Q224*	probably null	Het
N4bp2	A	G	5: 65,960,895 (GRCm39)	Y522C	probably damaging	Het
Nt5dc3	G	A	10: 86,656,644 (GRCm39)		probably benign	Het
Or12e13	G	A	2: 87,663,592 (GRCm39)	A70T	probably damaging	Het
Ppp1r3b	C	T	8: 35,851,515 (GRCm39)	A118V	probably benign	Het
Slc37a2	C	T	9: 37,146,455 (GRCm39)	A351T	probably damaging	Het
Tlr11	T	C	14: 50,598,328 (GRCm39)	F105L	possibly damaging	Het
Vwa8	G	A	14: 79,184,713 (GRCm39)		probably null	Het
Xrra1	A	T	7: 99,563,434 (GRCm39)	I474F	possibly damaging	Het
Zfp790	A	G	7: 29,529,160 (GRCm39)	K615R	possibly damaging	Het

Other mutations in Gcgr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02406:Gcgr	APN	11	120,428,010 (GRCm39)	missense	probably damaging	0.99
IGL02756:Gcgr	APN	11	120,427,811 (GRCm39)	missense	probably benign	0.03
IGL02942:Gcgr	APN	11	120,427,643 (GRCm39)	splice site	probably null
PIT4651001:Gcgr	UTSW	11	120,428,968 (GRCm39)	missense	probably damaging	1.00
R0519:Gcgr	UTSW	11	120,426,982 (GRCm39)	missense	probably damaging	1.00
R0549:Gcgr	UTSW	11	120,427,387 (GRCm39)	missense	probably benign	0.28
R1400:Gcgr	UTSW	11	120,425,812 (GRCm39)	missense	probably benign	0.00
R4272:Gcgr	UTSW	11	120,429,250 (GRCm39)	unclassified	probably benign
R5155:Gcgr	UTSW	11	120,427,872 (GRCm39)	missense	probably benign	0.30
R6042:Gcgr	UTSW	11	120,425,584 (GRCm39)	start codon destroyed	probably null	0.02
R6093:Gcgr	UTSW	11	120,428,947 (GRCm39)	missense	probably damaging	1.00
R6867:Gcgr	UTSW	11	120,427,295 (GRCm39)	missense	possibly damaging	0.63
R7224:Gcgr	UTSW	11	120,425,538 (GRCm39)	start gained	probably benign
R8232:Gcgr	UTSW	11	120,427,328 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16