Incidental Mutation 'R0013:Glp2r'
ID |
32654 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glp2r
|
Ensembl Gene |
ENSMUSG00000049928 |
Gene Name |
glucagon-like peptide 2 receptor |
Synonyms |
GLP-2, 9530092J08Rik |
MMRRC Submission |
038308-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0013 (G1)
|
Quality Score |
203 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
67554877-67661979 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 67600538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 437
(G437V)
|
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 |
possibly damaging
Transcript: ENSMUST00000051765
AA Change: G437V
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000061560 Gene: ENSMUSG00000049928 AA Change: G437V
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 |
|
Meta Mutation Damage Score |
0.1300 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.8%
|
Validation Efficiency |
94% (79/84) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
A |
G |
10: 76,293,346 (GRCm39) |
M156V |
probably benign |
Het |
Adnp2 |
A |
T |
18: 80,172,960 (GRCm39) |
V483D |
probably damaging |
Het |
Aff1 |
G |
T |
5: 103,976,350 (GRCm39) |
E491* |
probably null |
Het |
Agl |
A |
T |
3: 116,570,257 (GRCm39) |
C911* |
probably null |
Het |
Akt2 |
A |
G |
7: 27,335,483 (GRCm39) |
D284G |
probably damaging |
Het |
Alox15 |
A |
G |
11: 70,240,461 (GRCm39) |
M240T |
possibly damaging |
Het |
Antxr2 |
A |
G |
5: 98,127,844 (GRCm39) |
V229A |
probably damaging |
Het |
Arap2 |
G |
A |
5: 62,840,827 (GRCm39) |
L680F |
probably damaging |
Het |
Btaf1 |
A |
G |
19: 36,935,773 (GRCm39) |
T188A |
probably benign |
Het |
Btnl6 |
G |
A |
17: 34,734,505 (GRCm39) |
Q86* |
probably null |
Het |
C2cd3 |
T |
A |
7: 100,065,269 (GRCm39) |
L685H |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,248,952 (GRCm39) |
T878A |
possibly damaging |
Het |
Clec4b2 |
T |
C |
6: 123,179,108 (GRCm39) |
Y137H |
probably damaging |
Het |
Dchs1 |
T |
A |
7: 105,405,043 (GRCm39) |
T2500S |
possibly damaging |
Het |
Def6 |
A |
G |
17: 28,436,066 (GRCm39) |
Y75C |
probably damaging |
Het |
Dhx33 |
A |
T |
11: 70,884,461 (GRCm39) |
F448L |
probably damaging |
Het |
Dner |
C |
T |
1: 84,472,614 (GRCm39) |
|
probably benign |
Het |
Dnmbp |
G |
A |
19: 43,890,670 (GRCm39) |
P366S |
probably benign |
Het |
Eif4g3 |
T |
C |
4: 137,903,159 (GRCm39) |
C1160R |
possibly damaging |
Het |
Elmod1 |
G |
A |
9: 53,820,185 (GRCm39) |
|
probably benign |
Het |
Faah |
C |
A |
4: 115,861,588 (GRCm39) |
L305F |
probably damaging |
Het |
Flt1 |
A |
G |
5: 147,507,824 (GRCm39) |
|
probably benign |
Het |
Fyco1 |
A |
T |
9: 123,651,471 (GRCm39) |
N1196K |
probably benign |
Het |
Galnt18 |
T |
C |
7: 111,153,664 (GRCm39) |
N320S |
probably damaging |
Het |
Garin3 |
A |
G |
11: 46,297,631 (GRCm39) |
T312A |
unknown |
Het |
Gm4884 |
T |
C |
7: 40,693,716 (GRCm39) |
S562P |
probably damaging |
Het |
Gm9936 |
A |
G |
5: 114,995,408 (GRCm39) |
|
probably benign |
Het |
Gpn2 |
C |
A |
4: 133,312,103 (GRCm39) |
P112T |
probably damaging |
Het |
Grm4 |
A |
G |
17: 27,650,549 (GRCm39) |
Y816H |
probably benign |
Het |
Helz2 |
A |
T |
2: 180,882,752 (GRCm39) |
S14T |
probably benign |
Het |
Htt |
T |
C |
5: 34,977,448 (GRCm39) |
L778P |
probably benign |
Het |
Il11ra1 |
T |
C |
4: 41,765,060 (GRCm39) |
S129P |
probably damaging |
Het |
Ints11 |
T |
C |
4: 155,971,625 (GRCm39) |
F315S |
probably damaging |
Het |
Itga11 |
A |
T |
9: 62,683,895 (GRCm39) |
N1059Y |
possibly damaging |
Het |
Jak3 |
A |
G |
8: 72,136,971 (GRCm39) |
S716G |
probably damaging |
Het |
Kcns1 |
G |
T |
2: 164,010,563 (GRCm39) |
D65E |
probably benign |
Het |
Kdm5d |
A |
T |
Y: 941,715 (GRCm39) |
K1305N |
probably benign |
Het |
Kif26a |
G |
T |
12: 112,144,314 (GRCm39) |
V1523L |
probably benign |
Het |
Mboat7 |
A |
G |
7: 3,686,821 (GRCm39) |
S340P |
probably damaging |
Het |
Mctp2 |
T |
C |
7: 71,879,156 (GRCm39) |
I234V |
probably benign |
Het |
Mex3c |
G |
A |
18: 73,723,622 (GRCm39) |
A572T |
probably benign |
Het |
Mpp3 |
C |
A |
11: 101,896,251 (GRCm39) |
R424L |
probably benign |
Het |
Mroh4 |
T |
A |
15: 74,480,086 (GRCm39) |
|
probably benign |
Het |
Myo9a |
A |
T |
9: 59,767,489 (GRCm39) |
|
probably benign |
Het |
Myog |
T |
A |
1: 134,217,973 (GRCm39) |
H60Q |
probably damaging |
Het |
Nlrp9a |
T |
A |
7: 26,270,650 (GRCm39) |
|
probably null |
Het |
Notch1 |
A |
G |
2: 26,363,830 (GRCm39) |
V868A |
possibly damaging |
Het |
Or10g9b |
A |
T |
9: 39,917,651 (GRCm39) |
I198N |
probably damaging |
Het |
Or1j20 |
A |
G |
2: 36,760,172 (GRCm39) |
N198S |
probably damaging |
Het |
Or1p1 |
T |
A |
11: 74,179,877 (GRCm39) |
I135N |
possibly damaging |
Het |
Or5d18 |
T |
C |
2: 87,864,610 (GRCm39) |
Y291C |
possibly damaging |
Het |
Pink1 |
T |
C |
4: 138,044,712 (GRCm39) |
T342A |
probably benign |
Het |
Plb1 |
T |
A |
5: 32,506,959 (GRCm39) |
|
probably benign |
Het |
Plec |
T |
C |
15: 76,062,446 (GRCm39) |
D2524G |
probably damaging |
Het |
Plekhg4 |
G |
T |
8: 106,102,028 (GRCm39) |
E6* |
probably null |
Het |
Polq |
T |
C |
16: 36,882,201 (GRCm39) |
F1455S |
possibly damaging |
Het |
Ppm1e |
A |
G |
11: 87,139,884 (GRCm39) |
|
probably benign |
Het |
Prkaca |
G |
A |
8: 84,714,932 (GRCm39) |
M119I |
possibly damaging |
Het |
Prss46 |
G |
T |
9: 110,679,123 (GRCm39) |
S108I |
probably damaging |
Het |
Ptma |
C |
T |
1: 86,457,498 (GRCm39) |
|
probably benign |
Het |
Rab11fip4 |
C |
T |
11: 79,580,479 (GRCm39) |
T437M |
probably benign |
Het |
Rngtt |
T |
A |
4: 33,379,409 (GRCm39) |
M437K |
probably benign |
Het |
Rrn3 |
T |
A |
16: 13,630,977 (GRCm39) |
D604E |
possibly damaging |
Het |
Scn4a |
A |
G |
11: 106,239,231 (GRCm39) |
|
probably benign |
Het |
Sis |
A |
G |
3: 72,817,809 (GRCm39) |
L1468P |
possibly damaging |
Het |
Slit3 |
A |
G |
11: 35,598,745 (GRCm39) |
M1450V |
probably benign |
Het |
Smg5 |
T |
C |
3: 88,256,540 (GRCm39) |
S269P |
probably benign |
Het |
Sntg1 |
T |
C |
1: 8,533,686 (GRCm39) |
T323A |
probably damaging |
Het |
Son |
C |
T |
16: 91,448,550 (GRCm39) |
T37I |
probably damaging |
Het |
Stk17b |
T |
C |
1: 53,803,291 (GRCm39) |
I41M |
probably benign |
Het |
Tgm5 |
T |
A |
2: 120,907,363 (GRCm39) |
Y120F |
probably damaging |
Het |
Tppp |
A |
G |
13: 74,169,479 (GRCm39) |
K73R |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,569,502 (GRCm39) |
K27130N |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,738,096 (GRCm39) |
V4148I |
probably benign |
Het |
Tut4 |
T |
A |
4: 108,388,152 (GRCm39) |
|
probably benign |
Het |
Uba7 |
A |
T |
9: 107,855,448 (GRCm39) |
Y375F |
probably damaging |
Het |
Ugcg |
T |
C |
4: 59,213,931 (GRCm39) |
L171P |
possibly damaging |
Het |
Vsig2 |
T |
C |
9: 37,453,872 (GRCm39) |
|
probably benign |
Het |
Zfp839 |
T |
A |
12: 110,834,820 (GRCm39) |
S692T |
possibly 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 |
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 |
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'- TTGCCAAGCTGTGGTGATGGAC -3'
(R):5'- TTAACAGCCTTTAGCCCAGTGCCC -3'
Sequencing Primer
(F):5'- GTGATGGACCCTGTCTTAGATCTC -3'
(R):5'- ttgcttgtctttgttctgctc -3'
|
Posted On |
2013-05-09 |