Mutagenetix > Incidental Mutation

Incidental Mutation 'R4417:Glp2r'

326893

Institutional Source

Beutler Lab

Gene Symbol

Glp2r

Ensembl Gene

ENSMUSG00000049928

Gene Name

glucagon-like peptide 2 receptor

Synonyms

GLP-2, 9530092J08Rik

MMRRC Submission

041138-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4417 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67554877-67661979 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 67555342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021289] [ENSMUST00000041611] [ENSMUST00000108680] [ENSMUST00000108681] [ENSMUST00000108682]

AlphaFold

Q5IXF8

Predicted Effect

unknown
Transcript: ENSMUST00000021289
AA Change: E271G

SMART Domains

Protein: ENSMUSP00000021289
Gene: ENSMUSG00000049928
AA Change: E271G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000041611

SMART Domains

Protein: ENSMUSP00000038420
Gene: ENSMUSG00000033066

Domain	Start	End	E-Value	Type
WW	14	46	1.39e-11	SMART
FCH	146	232	6.62e-25	SMART
coiled coil region	260	304	N/A	INTRINSIC
low complexity region	335	354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108680

SMART Domains

Protein: ENSMUSP00000104320
Gene: ENSMUSG00000033066

Domain	Start	End	E-Value	Type
WW	14	46	1.39e-11	SMART
FCH	146	232	6.62e-25	SMART
coiled coil region	260	304	N/A	INTRINSIC
low complexity region	335	354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108681

SMART Domains

Protein: ENSMUSP00000104321
Gene: ENSMUSG00000033066

Domain	Start	End	E-Value	Type
WW	14	46	1.39e-11	SMART
FCH	146	232	6.62e-25	SMART
coiled coil region	260	304	N/A	INTRINSIC
low complexity region	335	354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108682

SMART Domains

Protein: ENSMUSP00000104322
Gene: ENSMUSG00000033066

Domain	Start	End	E-Value	Type
WW	18	50	1.39e-11	SMART
FCH	150	236	6.62e-25	SMART
coiled coil region	264	308	N/A	INTRINSIC
low complexity region	339	358	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151784

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (53/53)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	T	A	1: 85,654,184 (GRCm39)	Y51F	probably damaging	Het
Abi3bp	C	A	16: 56,474,398 (GRCm39)	T631K	probably damaging	Het
BC004004	G	A	17: 29,501,249 (GRCm39)		probably benign	Het
Cabp1	G	A	5: 115,324,096 (GRCm39)	S7L	possibly damaging	Het
Cdc23	ACC	AC	18: 34,770,371 (GRCm39)		probably null	Het
Clhc1	T	C	11: 29,521,826 (GRCm39)	I453T	possibly damaging	Het
Col28a1	T	A	6: 8,175,666 (GRCm39)	I61F	possibly damaging	Het
Col2a1	T	C	15: 97,896,466 (GRCm39)	E61G	unknown	Het
Col6a4	C	T	9: 105,949,215 (GRCm39)	V807I	probably damaging	Het
Crhbp	T	C	13: 95,580,385 (GRCm39)	S65G	probably benign	Het
Dnah9	T	A	11: 65,872,040 (GRCm39)	Q2730L	possibly damaging	Het
Epx	T	A	11: 87,760,256 (GRCm39)	R453*	probably null	Het
Fez1	T	C	9: 36,781,768 (GRCm39)		probably benign	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Gpm6a	T	A	8: 55,503,223 (GRCm39)	N157K	probably damaging	Het
Kcnj2	T	C	11: 110,963,015 (GRCm39)	S136P	probably damaging	Het
Lad1	A	G	1: 135,756,484 (GRCm39)	D364G	probably benign	Het
Lcp2	G	T	11: 34,000,917 (GRCm39)	E33D	probably benign	Het
Lrrc32	G	T	7: 98,148,144 (GRCm39)	R308L	probably benign	Het
Matr3	C	A	18: 35,705,171 (GRCm39)	A32D	probably damaging	Het
Mfsd12	A	G	10: 81,200,537 (GRCm39)		probably benign	Het
Mtmr11	T	C	3: 96,075,207 (GRCm39)		probably benign	Het
Notch2	A	G	3: 98,038,586 (GRCm39)	D1243G	possibly damaging	Het
Odf2	T	A	2: 29,805,333 (GRCm39)		probably benign	Het
Oit3	T	C	10: 59,263,925 (GRCm39)	Y403C	probably damaging	Het
Or4c125	T	C	2: 89,170,331 (GRCm39)	E105G	probably benign	Het
Pasd1	G	A	X: 70,983,225 (GRCm39)	C399Y	possibly damaging	Het
Pitpnm2	G	T	5: 124,261,632 (GRCm39)	R977S	probably damaging	Het
Prdm13	T	C	4: 21,678,756 (GRCm39)	E578G	probably benign	Het
Pum3	A	G	19: 27,400,116 (GRCm39)	I183T	probably damaging	Het
Rdh14	G	A	12: 10,441,231 (GRCm39)		probably null	Het
Slc35b2	G	A	17: 45,877,355 (GRCm39)	V161M	probably benign	Het
Slit1	A	G	19: 41,602,908 (GRCm39)	C968R	probably damaging	Het
Spag9	A	T	11: 93,951,172 (GRCm39)		probably benign	Het
Spmip6	T	C	4: 41,505,574 (GRCm39)	T183A	possibly damaging	Het
Stox1	T	C	10: 62,495,348 (GRCm39)	N975S	probably benign	Het
Stradb	T	C	1: 59,033,531 (GRCm39)	V398A	probably benign	Het
Tlr4	A	T	4: 66,757,540 (GRCm39)	N111I	probably damaging	Het
Tnip2	G	A	5: 34,660,925 (GRCm39)	R176*	probably null	Het
Tomm7	A	G	5: 24,048,977 (GRCm39)	I32T	probably benign	Het
Trank1	T	C	9: 111,195,036 (GRCm39)	I1020T	probably benign	Het
Ugt1a10	T	G	1: 87,983,717 (GRCm39)	S172A	probably benign	Het
Vmn2r115	T	A	17: 23,564,854 (GRCm39)	M247K	probably benign	Het
Zfp341	T	C	2: 154,470,907 (GRCm39)	L308P	possibly damaging	Het
Zmym6	T	C	4: 126,986,781 (GRCm39)	S154P	probably damaging	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
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
R5705:Glp2r	UTSW	11	67,600,565 (GRCm39)	missense	probably benign	0.30
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'- CCAGTGAAGGGAACTCAAATCC -3'
(R):5'- TCAGCAAGCTCCTGAGTTTC -3'

Sequencing Primer
(F):5'- AGCCCATCATTGGTGCTCTAGG -3'
(R):5'- TGAGTTTCACACTGACCCAG -3'

Posted On

2015-07-07