Mutagenetix > Incidental Mutation

Incidental Mutation 'R6910:Glp2r'

538984

Institutional Source

Beutler Lab

Gene Symbol

Glp2r

Ensembl Gene

ENSMUSG00000049928

Gene Name

glucagon-like peptide 2 receptor

Synonyms

GLP-2, 9530092J08Rik

MMRRC Submission

045002-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67554877-67661979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67621497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 162 (F162S)

Ref Sequence

ENSEMBL: ENSMUSP00000021289 (fasta)

Gene Model

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

AlphaFold

Q5IXF8

Predicted Effect

probably benign
Transcript: ENSMUST00000021289
AA Change: F162S

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000021289
Gene: ENSMUSG00000049928
AA Change: F162S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000051765
AA Change: F331S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000061560
Gene: ENSMUSG00000049928
AA Change: F331S

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (37/37)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cfap54	A	G	10: 92,672,374 (GRCm39)	S2899P	probably benign	Het
Chil5	A	G	3: 105,926,977 (GRCm39)	W82R	probably damaging	Het
Dennd3	A	G	15: 73,426,965 (GRCm39)	T781A	probably benign	Het
Epha2	A	G	4: 141,048,824 (GRCm39)	D597G	probably damaging	Het
Gcn1	A	G	5: 115,744,597 (GRCm39)	T1598A	probably benign	Het
Gm17655	T	A	5: 110,195,039 (GRCm39)	R248*	probably null	Het
Gnptab	G	A	10: 88,267,258 (GRCm39)	G450S	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Hapln2	A	G	3: 87,931,135 (GRCm39)	Y127H	probably damaging	Het
Hdac4	G	T	1: 91,909,875 (GRCm39)	T463K	probably damaging	Het
Ift80	A	C	3: 68,835,068 (GRCm39)	S458A	probably benign	Het
Lama1	A	G	17: 68,098,459 (GRCm39)	D1846G	possibly damaging	Het
Map3k8	A	G	18: 4,340,801 (GRCm39)	I171T	probably benign	Het
Micu1	A	G	10: 59,576,489 (GRCm39)	E115G	probably damaging	Het
Mrpl39	A	G	16: 84,532,080 (GRCm39)	V9A	unknown	Het
Ncoa7	T	G	10: 30,570,117 (GRCm39)	I281L	possibly damaging	Het
Nms	A	G	1: 38,980,976 (GRCm39)	E54G	probably benign	Het
Nrip1	G	A	16: 76,091,305 (GRCm39)	A84V	probably damaging	Het
Or10ak9	T	A	4: 118,726,335 (GRCm39)	M119K	probably damaging	Het
Or11g27	G	A	14: 50,771,330 (GRCm39)	V154M	probably benign	Het
Pcdhga10	T	A	18: 37,881,285 (GRCm39)	S349T	probably damaging	Het
R3hcc1	G	A	14: 69,935,024 (GRCm39)	P454L	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr3	T	C	2: 112,788,520 (GRCm39)	D170G	probably damaging	Het
Sanbr	A	G	11: 23,570,447 (GRCm39)	V151A	probably damaging	Het
Scp2	C	A	4: 107,962,283 (GRCm39)	G81C	probably damaging	Het
Sez6	A	G	11: 77,844,695 (GRCm39)	T173A	possibly damaging	Het
Syne1	T	C	10: 4,998,887 (GRCm39)	H8142R	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tnfrsf11a	A	G	1: 105,772,272 (GRCm39)	T520A	probably damaging	Het
Tpm1	A	G	9: 66,939,256 (GRCm39)	S170P	probably damaging	Het
Try5	T	C	6: 41,288,733 (GRCm39)	D54G	possibly damaging	Het
Vmn2r-ps158	T	C	7: 42,673,475 (GRCm39)	F178L	probably benign	Het
Zan	T	C	5: 137,417,342 (GRCm39)	E3041G	unknown	Het
Zfp1001	A	T	2: 150,165,987 (GRCm39)	Q56L	probably benign	Het
Zfp616	A	T	11: 73,975,828 (GRCm39)	H699L	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
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
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
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'- ACACCTCTTCATAAGGGCCCTC -3'
(R):5'- GTCAACTTGCCTGTGGTTCC -3'

Sequencing Primer
(F):5'- AGACAGGTAGTTGAGCTCATTCC -3'
(R):5'- ACTTGCCTGTGGTTCCCATGG -3'

Posted On

2018-11-06