Mutagenetix > Incidental Mutation

Incidental Mutation 'R5313:Glp2r'

405710

Institutional Source

Beutler Lab

Gene Symbol

Glp2r

Ensembl Gene

ENSMUSG00000049928

Gene Name

glucagon-like peptide 2 receptor

Synonyms

GLP-2, 9530092J08Rik

MMRRC Submission

042896-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5313 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67661502-67771153 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67757531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 115 (D115G)

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 damaging
Transcript: ENSMUST00000051765
AA Change: D115G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000061560
Gene: ENSMUSG00000049928
AA Change: D115G

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: 99.3%
3x: 98.7%
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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	T	2: 130,709,268	E1027K	probably damaging	Het
9130011E15Rik	G	A	19: 45,818,975	R661W	probably damaging	Het
Adam19	T	C	11: 46,131,776	C519R	probably damaging	Het
Adgra3	A	T	5: 49,961,309	S966T	probably benign	Het
Adgrl2	A	G	3: 148,823,713	Y1115H	probably damaging	Het
Adgrl3	A	T	5: 81,726,669	I938F	probably damaging	Het
Arhgef17	A	C	7: 100,928,924	L939W	probably damaging	Het
Arhgef18	A	G	8: 3,451,629		probably null	Het
Cacna1d	A	C	14: 30,346,841	I147S	probably benign	Het
Cdc42bpa	T	G	1: 180,084,433	D525E	probably benign	Het
Cdh6	T	A	15: 13,034,637	I646F	probably damaging	Het
Col6a5	T	G	9: 105,945,544	I205L	unknown	Het
Cpox	T	A	16: 58,677,948	Y381*	probably null	Het
Ctsc	T	C	7: 88,309,553	V347A	probably damaging	Het
Ephb6	A	T	6: 41,616,793	T537S	possibly damaging	Het
Fam135a	T	C	1: 24,028,585	I168V	possibly damaging	Het
Fam234b	T	A	6: 135,209,187	D64E	possibly damaging	Het
Fgfr2	A	T	7: 130,241,240	D157E	probably benign	Het
Fstl5	A	T	3: 76,593,505	I414F	possibly damaging	Het
Gpr85	A	T	6: 13,836,302	V201D	probably damaging	Het
Ido1	A	C	8: 24,587,778	I91S	probably damaging	Het
Ism2	G	A	12: 87,279,762	P468S	probably damaging	Het
Map2	A	G	1: 66,425,379	K1643E	probably damaging	Het
Olfr1228	C	T	2: 89,249,377	E106K	probably benign	Het
Olfr1329	A	G	4: 118,916,798	V223A	probably benign	Het
Olfr1466	G	A	19: 13,342,065	M102I	probably benign	Het
Olfr791	C	T	10: 129,527,081	P285S	probably damaging	Het
Ppargc1a	A	G	5: 51,458,239		probably benign	Het
Prpf4b	T	C	13: 34,894,549	V714A	probably damaging	Het
Sept8	C	T	11: 53,535,982	T190I	probably damaging	Het
Slc18a2	A	G	19: 59,293,843	K494R	probably benign	Het
Slc34a2	A	T	5: 53,069,339	K542N	probably damaging	Het
Snd1	C	A	6: 28,668,601	T429K	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Timm10b	T	C	7: 105,641,080	L60P	probably damaging	Het
Tmprss11a	A	T	5: 86,411,815	Y373N	probably damaging	Het
Usp17la	T	A	7: 104,861,250	V354D	probably benign	Het
Zbtb7b	G	T	3: 89,381,319	T64K	probably damaging	Het

Other mutations in Glp2r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:Glp2r	APN	11	67709644	missense	probably benign
IGL02244:Glp2r	APN	11	67721991	missense	probably damaging	1.00
IGL02484:Glp2r	APN	11	67740166	missense	possibly damaging	0.90
R0013:Glp2r	UTSW	11	67709712	missense	possibly damaging	0.88
R0013:Glp2r	UTSW	11	67709712	missense	possibly damaging	0.88
R0195:Glp2r	UTSW	11	67709708	missense	probably damaging	0.99
R1612:Glp2r	UTSW	11	67742207	missense	possibly damaging	0.46
R1699:Glp2r	UTSW	11	67757541	missense	probably benign	0.09
R1944:Glp2r	UTSW	11	67746792	missense	probably benign	0.01
R3971:Glp2r	UTSW	11	67746815	missense	possibly damaging	0.65
R4417:Glp2r	UTSW	11	67664516	intron	probably benign
R4681:Glp2r	UTSW	11	67730627	splice site	probably null
R4914:Glp2r	UTSW	11	67757593	nonsense	probably null
R4918:Glp2r	UTSW	11	67757593	nonsense	probably null
R4938:Glp2r	UTSW	11	67757593	nonsense	probably null
R4940:Glp2r	UTSW	11	67757593	nonsense	probably null
R4941:Glp2r	UTSW	11	67746703	splice site	probably null
R4963:Glp2r	UTSW	11	67757593	nonsense	probably null
R4966:Glp2r	UTSW	11	67757593	nonsense	probably null
R5023:Glp2r	UTSW	11	67741032	missense	possibly damaging	0.82
R5121:Glp2r	UTSW	11	67722100	splice site	probably null
R5705:Glp2r	UTSW	11	67709739	missense	probably benign	0.30
R5790:Glp2r	UTSW	11	67764799	missense	probably damaging	1.00
R6074:Glp2r	UTSW	11	67746814	missense	unknown
R6595:Glp2r	UTSW	11	67764777	missense	probably benign	0.10
R6910:Glp2r	UTSW	11	67730671	missense	probably benign	0.28
R7511:Glp2r	UTSW	11	67757591	missense	probably damaging	0.98
R7627:Glp2r	UTSW	11	67746763	missense	unknown
R7681:Glp2r	UTSW	11	67709679	missense	probably benign	0.45
R7779:Glp2r	UTSW	11	67709783	nonsense	probably null
R8743:Glp2r	UTSW	11	67722075	missense	probably damaging	0.98
R8841:Glp2r	UTSW	11	67762729	missense	probably damaging	1.00
R9093:Glp2r	UTSW	11	67730633	nonsense	probably null
R9380:Glp2r	UTSW	11	67746746	missense	possibly damaging	0.67
R9576:Glp2r	UTSW	11	67764796	missense	not run
Z1186:Glp2r	UTSW	11	67709568	missense	probably damaging	0.98
Z1186:Glp2r	UTSW	11	67709644	missense	probably benign
Z1186:Glp2r	UTSW	11	67709646	missense	probably benign
Z1186:Glp2r	UTSW	11	67740123	missense	probably benign	0.03
Z1186:Glp2r	UTSW	11	67740167	missense	probably benign
Z1186:Glp2r	UTSW	11	67741052	missense	probably benign
Z1186:Glp2r	UTSW	11	67741059	missense	probably benign	0.00
Z1186:Glp2r	UTSW	11	67742303	missense	probably benign
Z1186:Glp2r	UTSW	11	67744947	missense	probably benign
Z1186:Glp2r	UTSW	11	67770836	missense	probably benign	0.01
Z1187:Glp2r	UTSW	11	67709568	missense	probably damaging	0.98
Z1187:Glp2r	UTSW	11	67709644	missense	probably benign
Z1187:Glp2r	UTSW	11	67709646	missense	probably benign
Z1187:Glp2r	UTSW	11	67740167	missense	probably benign
Z1187:Glp2r	UTSW	11	67741052	missense	probably benign
Z1187:Glp2r	UTSW	11	67741059	missense	probably benign	0.00
Z1187:Glp2r	UTSW	11	67742303	missense	probably benign
Z1187:Glp2r	UTSW	11	67744947	missense	probably benign
Z1187:Glp2r	UTSW	11	67770836	missense	probably benign	0.01
Z1188:Glp2r	UTSW	11	67709568	missense	probably damaging	0.98
Z1188:Glp2r	UTSW	11	67709644	missense	probably benign
Z1188:Glp2r	UTSW	11	67709646	missense	probably benign
Z1188:Glp2r	UTSW	11	67740167	missense	probably benign
Z1188:Glp2r	UTSW	11	67741052	missense	probably benign
Z1188:Glp2r	UTSW	11	67741059	missense	probably benign	0.00
Z1188:Glp2r	UTSW	11	67742303	missense	probably benign
Z1188:Glp2r	UTSW	11	67744947	missense	probably benign
Z1188:Glp2r	UTSW	11	67770836	missense	probably benign	0.01
Z1189:Glp2r	UTSW	11	67709568	missense	probably damaging	0.98
Z1189:Glp2r	UTSW	11	67741059	missense	probably benign	0.00
Z1189:Glp2r	UTSW	11	67744947	missense	probably benign
Z1189:Glp2r	UTSW	11	67770836	missense	probably benign	0.01
Z1190:Glp2r	UTSW	11	67709568	missense	probably damaging	0.98
Z1190:Glp2r	UTSW	11	67709644	missense	probably benign
Z1190:Glp2r	UTSW	11	67709646	missense	probably benign
Z1190:Glp2r	UTSW	11	67740123	missense	probably benign	0.03
Z1190:Glp2r	UTSW	11	67740167	missense	probably benign
Z1190:Glp2r	UTSW	11	67741052	missense	probably benign
Z1190:Glp2r	UTSW	11	67741059	missense	probably benign	0.00
Z1190:Glp2r	UTSW	11	67742303	missense	probably benign
Z1190:Glp2r	UTSW	11	67744947	missense	probably benign
Z1190:Glp2r	UTSW	11	67770836	missense	probably benign	0.01
Z1191:Glp2r	UTSW	11	67709568	missense	probably damaging	0.98
Z1191:Glp2r	UTSW	11	67709644	missense	probably benign
Z1191:Glp2r	UTSW	11	67709646	missense	probably benign
Z1191:Glp2r	UTSW	11	67740167	missense	probably benign
Z1191:Glp2r	UTSW	11	67741052	missense	probably benign
Z1191:Glp2r	UTSW	11	67741059	missense	probably benign	0.00
Z1191:Glp2r	UTSW	11	67742303	missense	probably benign
Z1191:Glp2r	UTSW	11	67744947	missense	probably benign
Z1191:Glp2r	UTSW	11	67770836	missense	probably benign	0.01
Z1192:Glp2r	UTSW	11	67709568	missense	probably damaging	0.98
Z1192:Glp2r	UTSW	11	67709644	missense	probably benign
Z1192:Glp2r	UTSW	11	67709646	missense	probably benign
Z1192:Glp2r	UTSW	11	67741052	missense	probably benign
Z1192:Glp2r	UTSW	11	67741059	missense	probably benign	0.00
Z1192:Glp2r	UTSW	11	67742303	missense	probably benign
Z1192:Glp2r	UTSW	11	67744947	missense	probably benign
Z1192:Glp2r	UTSW	11	67770836	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACCAATGGGAGTTGCTGTTC -3'
(R):5'- ACGAAACCCTCTTTCCCTGG -3'

Sequencing Primer
(F):5'- CAATGGGAGTTGCTGTTCTGGTG -3'
(R):5'- GGGATTTTCCACAGCTTTTTAGC -3'

Posted On

2016-07-22