Mutagenetix > Incidental Mutation

Incidental Mutation 'R5705:Glp2r'

451938

Institutional Source

Beutler Lab

Gene Symbol

Glp2r

Ensembl Gene

ENSMUSG00000049928

Gene Name

glucagon-like peptide 2 receptor

Synonyms

GLP-2, 9530092J08Rik

MMRRC Submission

043330-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5705 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67554877-67661979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67600565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 428 (V428A)

Ref Sequence

ENSEMBL: ENSMUSP00000061560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021289] [ENSMUST00000051765]

AlphaFold

Q5IXF8

Predicted Effect

probably benign
Transcript: ENSMUST00000021289

SMART Domains

Protein: ENSMUSP00000021289
Gene: ENSMUSG00000049928

Domain	Start	End	E-Value	Type
Pfam:7tm_2	17	225	4.8e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000051765
AA Change: V428A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000061560
Gene: ENSMUSG00000049928
AA Change: V428A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:HRM	53	122	3.4e-16	PFAM
Pfam:7tm_2	137	394	1.5e-79	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor that is closely related to the glucagon receptor and binds to glucagon-like peptide-2 (GLP2). Signalling through GLP2 stimulates intestinal growth and increases villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null mutation display defects in Paneth cell physiology, increased small bowel bacterial loads, and increased susceptibility to small bowel injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,851,276 (GRCm39)	V2163A	probably benign	Het
Abcg3	G	A	5: 105,116,036 (GRCm39)	A266V	probably damaging	Het
Ago1	T	C	4: 126,342,587 (GRCm39)	I519V	probably benign	Het
Arhgap4	G	A	X: 72,950,423 (GRCm39)	R43W	probably damaging	Het
Aurkb	T	A	11: 68,939,641 (GRCm39)	L213I	possibly damaging	Het
Bod1l	T	A	5: 41,974,345 (GRCm39)	Q2323L	probably benign	Het
Calhm5	A	T	10: 33,971,989 (GRCm39)	C149S	probably damaging	Het
Ccdc17	C	T	4: 116,454,066 (GRCm39)	T28I	probably benign	Het
Ccdc39	T	C	3: 33,871,086 (GRCm39)	E630G	probably damaging	Het
Cnih4	A	G	1: 180,981,300 (GRCm39)	I24V	probably benign	Het
Ctse	C	A	1: 131,592,112 (GRCm39)	T146K	possibly damaging	Het
Ctsr	A	G	13: 61,309,078 (GRCm39)	F226L	probably damaging	Het
Cyp2a22	T	C	7: 26,638,640 (GRCm39)	N49D	probably benign	Het
Defb23	C	T	2: 152,301,204 (GRCm39)	A123T	probably benign	Het
Dtx2	C	A	5: 136,039,149 (GRCm39)	D69E	probably damaging	Het
Eps8l1	T	C	7: 4,473,034 (GRCm39)	V91A	probably benign	Het
Eps8l3	C	A	3: 107,798,580 (GRCm39)	Q489K	probably benign	Het
Esyt3	A	G	9: 99,200,260 (GRCm39)	S645P	probably benign	Het
Fam161a	T	A	11: 22,978,869 (GRCm39)	M472K	unknown	Het
Gnl1	G	A	17: 36,292,492 (GRCm39)	V191I	probably benign	Het
Hfm1	T	C	5: 107,059,319 (GRCm39)	I234M	probably benign	Het
Hlx	T	C	1: 184,463,062 (GRCm39)	T197A	probably benign	Het
Hs3st2	T	C	7: 120,992,305 (GRCm39)	L85P	probably damaging	Het
Igsf9	T	C	1: 172,322,338 (GRCm39)	V511A	possibly damaging	Het
Insyn2b	A	G	11: 34,354,349 (GRCm39)	Y473C	probably damaging	Het
Kcnma1	A	T	14: 24,053,839 (GRCm39)	C54S	possibly damaging	Het
Klhdc4	A	G	8: 122,531,732 (GRCm39)	V181A	probably benign	Het
Ldb3	T	C	14: 34,298,986 (GRCm39)	M213V	probably null	Het
Mertk	C	A	2: 128,613,321 (GRCm39)	Q446K	probably benign	Het
Ndufs1	A	G	1: 63,186,317 (GRCm39)	V46A	probably benign	Het
Neurod4	A	G	10: 130,107,271 (GRCm39)	M1T	probably null	Het
Nlrc5	T	A	8: 95,202,385 (GRCm39)	C162S	probably benign	Het
Pald1	A	G	10: 61,159,076 (GRCm39)	I785T	possibly damaging	Het
Pcmt1	T	C	10: 7,513,954 (GRCm39)	I224M	possibly damaging	Het
Pisd	C	T	5: 32,894,707 (GRCm39)	R533H	probably benign	Het
Plcxd3	C	A	15: 4,546,676 (GRCm39)	Q227K	probably benign	Het
Polr1b	A	T	2: 128,947,271 (GRCm39)	K199*	probably null	Het
Ppp1r10	T	C	17: 36,240,381 (GRCm39)	V557A	probably damaging	Het
Ralgapa2	A	G	2: 146,291,193 (GRCm39)	Y248H	probably damaging	Het
Rsrp1	T	C	4: 134,651,331 (GRCm39)	S32P	unknown	Het
Setdb2	T	G	14: 59,660,814 (GRCm39)	S110R	possibly damaging	Het
Srcin1	A	G	11: 97,439,777 (GRCm39)	C152R	probably benign	Het
Syk	A	G	13: 52,765,083 (GRCm39)	N70S	probably benign	Het
Tlr4	T	A	4: 66,752,217 (GRCm39)	D59E	probably damaging	Het
Tm9sf4	T	A	2: 153,024,378 (GRCm39)	I67N	probably benign	Het
Trim30b	T	A	7: 104,006,784 (GRCm39)	Y24F	probably damaging	Het
Tsga13	A	G	6: 30,876,951 (GRCm39)	S189P	probably damaging	Het
Tspan33	A	G	6: 29,717,232 (GRCm39)	D210G	probably benign	Het
Use1	G	T	8: 71,822,331 (GRCm39)	R278L	probably damaging	Het
Wwc1	T	C	11: 35,767,423 (GRCm39)	N403D	probably damaging	Het
Zfp263	C	T	16: 3,564,318 (GRCm39)	P203S	probably benign	Het

Other mutations in Glp2r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:Glp2r	APN	11	67,600,470 (GRCm39)	missense	probably benign
IGL02244:Glp2r	APN	11	67,612,817 (GRCm39)	missense	probably damaging	1.00
IGL02484:Glp2r	APN	11	67,630,992 (GRCm39)	missense	possibly damaging	0.90
R0013:Glp2r	UTSW	11	67,600,538 (GRCm39)	missense	possibly damaging	0.88
R0013:Glp2r	UTSW	11	67,600,538 (GRCm39)	missense	possibly damaging	0.88
R0195:Glp2r	UTSW	11	67,600,534 (GRCm39)	missense	probably damaging	0.99
R1612:Glp2r	UTSW	11	67,633,033 (GRCm39)	missense	possibly damaging	0.46
R1699:Glp2r	UTSW	11	67,648,367 (GRCm39)	missense	probably benign	0.09
R1944:Glp2r	UTSW	11	67,637,618 (GRCm39)	missense	probably benign	0.01
R3971:Glp2r	UTSW	11	67,637,641 (GRCm39)	missense	possibly damaging	0.65
R4417:Glp2r	UTSW	11	67,555,342 (GRCm39)	intron	probably benign
R4681:Glp2r	UTSW	11	67,621,453 (GRCm39)	splice site	probably null
R4914:Glp2r	UTSW	11	67,648,419 (GRCm39)	nonsense	probably null
R4918:Glp2r	UTSW	11	67,648,419 (GRCm39)	nonsense	probably null
R4938:Glp2r	UTSW	11	67,648,419 (GRCm39)	nonsense	probably null
R4940:Glp2r	UTSW	11	67,648,419 (GRCm39)	nonsense	probably null
R4941:Glp2r	UTSW	11	67,637,529 (GRCm39)	splice site	probably null
R4963:Glp2r	UTSW	11	67,648,419 (GRCm39)	nonsense	probably null
R4966:Glp2r	UTSW	11	67,648,419 (GRCm39)	nonsense	probably null
R5023:Glp2r	UTSW	11	67,631,858 (GRCm39)	missense	possibly damaging	0.82
R5121:Glp2r	UTSW	11	67,612,926 (GRCm39)	splice site	probably null
R5313:Glp2r	UTSW	11	67,648,357 (GRCm39)	missense	probably damaging	0.96
R5790:Glp2r	UTSW	11	67,655,625 (GRCm39)	missense	probably damaging	1.00
R6074:Glp2r	UTSW	11	67,637,640 (GRCm39)	missense	unknown
R6595:Glp2r	UTSW	11	67,655,603 (GRCm39)	missense	probably benign	0.10
R6910:Glp2r	UTSW	11	67,621,497 (GRCm39)	missense	probably benign	0.28
R7511:Glp2r	UTSW	11	67,648,417 (GRCm39)	missense	probably damaging	0.98
R7627:Glp2r	UTSW	11	67,637,589 (GRCm39)	missense	unknown
R7681:Glp2r	UTSW	11	67,600,505 (GRCm39)	missense	probably benign	0.45
R7779:Glp2r	UTSW	11	67,600,609 (GRCm39)	nonsense	probably null
R8743:Glp2r	UTSW	11	67,612,901 (GRCm39)	missense	probably damaging	0.98
R8841:Glp2r	UTSW	11	67,653,555 (GRCm39)	missense	probably damaging	1.00
R9093:Glp2r	UTSW	11	67,621,459 (GRCm39)	nonsense	probably null
R9380:Glp2r	UTSW	11	67,637,572 (GRCm39)	missense	possibly damaging	0.67
R9576:Glp2r	UTSW	11	67,655,622 (GRCm39)	missense	probably benign	0.01
R9733:Glp2r	UTSW	11	67,648,367 (GRCm39)	missense	probably benign	0.09
Z1186:Glp2r	UTSW	11	67,635,773 (GRCm39)	missense	probably benign
Z1186:Glp2r	UTSW	11	67,661,662 (GRCm39)	missense	probably benign	0.01
Z1186:Glp2r	UTSW	11	67,600,394 (GRCm39)	missense	probably damaging	0.98
Z1186:Glp2r	UTSW	11	67,600,470 (GRCm39)	missense	probably benign
Z1186:Glp2r	UTSW	11	67,600,472 (GRCm39)	missense	probably benign
Z1186:Glp2r	UTSW	11	67,630,949 (GRCm39)	missense	probably benign	0.03
Z1186:Glp2r	UTSW	11	67,630,993 (GRCm39)	missense	probably benign
Z1186:Glp2r	UTSW	11	67,631,878 (GRCm39)	missense	probably benign
Z1186:Glp2r	UTSW	11	67,631,885 (GRCm39)	missense	probably benign	0.00
Z1186:Glp2r	UTSW	11	67,633,129 (GRCm39)	missense	probably benign
Z1187:Glp2r	UTSW	11	67,635,773 (GRCm39)	missense	probably benign
Z1187:Glp2r	UTSW	11	67,633,129 (GRCm39)	missense	probably benign
Z1187:Glp2r	UTSW	11	67,631,885 (GRCm39)	missense	probably benign	0.00
Z1187:Glp2r	UTSW	11	67,631,878 (GRCm39)	missense	probably benign
Z1187:Glp2r	UTSW	11	67,630,993 (GRCm39)	missense	probably benign
Z1187:Glp2r	UTSW	11	67,600,472 (GRCm39)	missense	probably benign
Z1187:Glp2r	UTSW	11	67,600,470 (GRCm39)	missense	probably benign
Z1187:Glp2r	UTSW	11	67,600,394 (GRCm39)	missense	probably damaging	0.98
Z1187:Glp2r	UTSW	11	67,661,662 (GRCm39)	missense	probably benign	0.01
Z1188:Glp2r	UTSW	11	67,635,773 (GRCm39)	missense	probably benign
Z1188:Glp2r	UTSW	11	67,633,129 (GRCm39)	missense	probably benign
Z1188:Glp2r	UTSW	11	67,631,885 (GRCm39)	missense	probably benign	0.00
Z1188:Glp2r	UTSW	11	67,631,878 (GRCm39)	missense	probably benign
Z1188:Glp2r	UTSW	11	67,630,993 (GRCm39)	missense	probably benign
Z1188:Glp2r	UTSW	11	67,600,472 (GRCm39)	missense	probably benign
Z1188:Glp2r	UTSW	11	67,600,470 (GRCm39)	missense	probably benign
Z1188:Glp2r	UTSW	11	67,600,394 (GRCm39)	missense	probably damaging	0.98
Z1188:Glp2r	UTSW	11	67,661,662 (GRCm39)	missense	probably benign	0.01
Z1189:Glp2r	UTSW	11	67,661,662 (GRCm39)	missense	probably benign	0.01
Z1189:Glp2r	UTSW	11	67,600,394 (GRCm39)	missense	probably damaging	0.98
Z1189:Glp2r	UTSW	11	67,631,885 (GRCm39)	missense	probably benign	0.00
Z1189:Glp2r	UTSW	11	67,635,773 (GRCm39)	missense	probably benign
Z1190:Glp2r	UTSW	11	67,633,129 (GRCm39)	missense	probably benign
Z1190:Glp2r	UTSW	11	67,631,885 (GRCm39)	missense	probably benign	0.00
Z1190:Glp2r	UTSW	11	67,631,878 (GRCm39)	missense	probably benign
Z1190:Glp2r	UTSW	11	67,630,993 (GRCm39)	missense	probably benign
Z1190:Glp2r	UTSW	11	67,630,949 (GRCm39)	missense	probably benign	0.03
Z1190:Glp2r	UTSW	11	67,600,472 (GRCm39)	missense	probably benign
Z1190:Glp2r	UTSW	11	67,600,470 (GRCm39)	missense	probably benign
Z1190:Glp2r	UTSW	11	67,600,394 (GRCm39)	missense	probably damaging	0.98
Z1190:Glp2r	UTSW	11	67,661,662 (GRCm39)	missense	probably benign	0.01
Z1190:Glp2r	UTSW	11	67,635,773 (GRCm39)	missense	probably benign
Z1191:Glp2r	UTSW	11	67,635,773 (GRCm39)	missense	probably benign
Z1191:Glp2r	UTSW	11	67,633,129 (GRCm39)	missense	probably benign
Z1191:Glp2r	UTSW	11	67,631,885 (GRCm39)	missense	probably benign	0.00
Z1191:Glp2r	UTSW	11	67,631,878 (GRCm39)	missense	probably benign
Z1191:Glp2r	UTSW	11	67,630,993 (GRCm39)	missense	probably benign
Z1191:Glp2r	UTSW	11	67,600,472 (GRCm39)	missense	probably benign
Z1191:Glp2r	UTSW	11	67,600,470 (GRCm39)	missense	probably benign
Z1191:Glp2r	UTSW	11	67,600,394 (GRCm39)	missense	probably damaging	0.98
Z1191:Glp2r	UTSW	11	67,661,662 (GRCm39)	missense	probably benign	0.01
Z1192:Glp2r	UTSW	11	67,661,662 (GRCm39)	missense	probably benign	0.01
Z1192:Glp2r	UTSW	11	67,635,773 (GRCm39)	missense	probably benign
Z1192:Glp2r	UTSW	11	67,633,129 (GRCm39)	missense	probably benign
Z1192:Glp2r	UTSW	11	67,631,885 (GRCm39)	missense	probably benign	0.00
Z1192:Glp2r	UTSW	11	67,631,878 (GRCm39)	missense	probably benign
Z1192:Glp2r	UTSW	11	67,600,472 (GRCm39)	missense	probably benign
Z1192:Glp2r	UTSW	11	67,600,470 (GRCm39)	missense	probably benign
Z1192:Glp2r	UTSW	11	67,600,394 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TATTGGCCAGGGTGAAGTCTC -3'
(R):5'- CCAGTGCCCTACAGCTTTTG -3'

Sequencing Primer
(F):5'- TGCTCTCAGACAGGCTGCTTG -3'
(R):5'- TGTTCTGCTCTACCATCTAAAAGG -3'

Posted On

2017-01-03