Incidental Mutation 'R5790:Glp2r'
| ID |
448292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glp2r
|
| Ensembl Gene |
ENSMUSG00000049928 |
| Gene Name |
glucagon-like peptide 2 receptor |
| Synonyms |
GLP-2, 9530092J08Rik |
| MMRRC Submission |
043384-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5790 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
67554877-67661979 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67655625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 39
(Y39F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051765]
|
| AlphaFold |
Q5IXF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051765
AA Change: Y39F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061560
Gene: ENSMUSG00000049928
AA Change: Y39F
| 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 |
0.2414 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
99% (73/74) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
A |
T |
5: 31,051,702 (GRCm39) |
R633* |
probably null |
Het |
| Ahnak |
T |
C |
19: 8,992,612 (GRCm39) |
V4632A |
probably damaging |
Het |
| Asap1 |
T |
A |
15: 63,966,114 (GRCm39) |
D997V |
probably damaging |
Het |
| Atad2 |
T |
C |
15: 57,989,990 (GRCm39) |
Y162C |
probably damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,736,270 (GRCm39) |
S936R |
probably damaging |
Het |
| Bcl11a |
T |
A |
11: 24,113,650 (GRCm39) |
L331Q |
probably damaging |
Het |
| C6 |
T |
A |
15: 4,792,968 (GRCm39) |
F358I |
probably damaging |
Het |
| Capn15 |
C |
T |
17: 26,183,521 (GRCm39) |
S386N |
probably benign |
Het |
| Ccdc66 |
G |
A |
14: 27,222,404 (GRCm39) |
T113I |
possibly damaging |
Het |
| Cd200 |
G |
T |
16: 45,217,621 (GRCm39) |
H23Q |
possibly damaging |
Het |
| Cdh17 |
A |
G |
4: 11,814,945 (GRCm39) |
|
probably null |
Het |
| Ces2b |
C |
T |
8: 105,560,568 (GRCm39) |
P128S |
probably damaging |
Het |
| Ces3b |
A |
T |
8: 105,819,270 (GRCm39) |
Q442L |
probably damaging |
Het |
| Chil4 |
T |
C |
3: 106,109,894 (GRCm39) |
H373R |
probably benign |
Het |
| Ciapin1 |
C |
A |
8: 95,551,811 (GRCm39) |
|
probably benign |
Het |
| Cnot10 |
A |
C |
9: 114,454,985 (GRCm39) |
|
probably null |
Het |
| Cpq |
A |
G |
15: 33,250,143 (GRCm39) |
K167E |
probably damaging |
Het |
| Dennd4b |
T |
A |
3: 90,184,757 (GRCm39) |
D1118E |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 31,093,978 (GRCm39) |
C4691S |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,311,898 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,304,981 (GRCm39) |
R341H |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,482,887 (GRCm39) |
T2145K |
probably benign |
Het |
| Eif3b |
T |
C |
5: 140,427,886 (GRCm39) |
V736A |
probably benign |
Het |
| Eno1 |
G |
T |
4: 150,329,710 (GRCm39) |
V195L |
probably benign |
Het |
| Ewsr1 |
C |
T |
11: 5,032,263 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,209,768 (GRCm39) |
T1038A |
probably benign |
Het |
| Gabrb1 |
T |
C |
5: 72,293,827 (GRCm39) |
I367T |
possibly damaging |
Het |
| Gigyf1 |
C |
T |
5: 137,522,517 (GRCm39) |
|
probably benign |
Het |
| Gm10036 |
T |
A |
18: 15,966,243 (GRCm39) |
Y131* |
probably null |
Het |
| Gm38706 |
T |
C |
6: 130,461,961 (GRCm39) |
|
noncoding transcript |
Het |
| Gna15 |
G |
A |
10: 81,345,218 (GRCm39) |
R216C |
probably damaging |
Het |
| Grin3a |
A |
G |
4: 49,792,717 (GRCm39) |
F339L |
probably damaging |
Het |
| Grk3 |
T |
G |
5: 113,114,842 (GRCm39) |
K126T |
possibly damaging |
Het |
| Hspa1l |
T |
C |
17: 35,196,216 (GRCm39) |
V85A |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,666,862 (GRCm39) |
L525* |
probably null |
Het |
| Irx3 |
T |
C |
8: 92,526,304 (GRCm39) |
T467A |
probably benign |
Het |
| Itga2 |
G |
A |
13: 115,004,742 (GRCm39) |
T530I |
probably benign |
Het |
| Lonp2 |
T |
C |
8: 87,358,118 (GRCm39) |
V113A |
probably benign |
Het |
| Msx3 |
C |
T |
7: 139,628,866 (GRCm39) |
R16H |
possibly damaging |
Het |
| Nek3 |
C |
A |
8: 22,621,313 (GRCm39) |
Q405H |
probably damaging |
Het |
| Nek3 |
T |
A |
8: 22,621,314 (GRCm39) |
Q403L |
probably damaging |
Het |
| Or2b6 |
T |
C |
13: 21,823,046 (GRCm39) |
T216A |
probably benign |
Het |
| Or6c66 |
A |
G |
10: 129,461,757 (GRCm39) |
Y58H |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,190,184 (GRCm39) |
N367S |
probably benign |
Het |
| Padi6 |
C |
A |
4: 140,459,569 (GRCm39) |
G429C |
probably damaging |
Het |
| Pidd1 |
T |
C |
7: 141,021,305 (GRCm39) |
|
probably benign |
Het |
| Plekhg5 |
T |
C |
4: 152,198,392 (GRCm39) |
V847A |
probably benign |
Het |
| Polr3e |
A |
G |
7: 120,527,190 (GRCm39) |
D56G |
probably damaging |
Het |
| Pomt2 |
T |
G |
12: 87,174,152 (GRCm39) |
N347T |
probably damaging |
Het |
| Ppp1r9a |
T |
C |
6: 5,134,363 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,544,296 (GRCm39) |
D184V |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,544,441 (GRCm39) |
T1431S |
probably damaging |
Het |
| Saal1 |
T |
C |
7: 46,351,352 (GRCm39) |
D208G |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,835,507 (GRCm39) |
I952V |
probably benign |
Het |
| Slc30a1 |
T |
A |
1: 191,640,997 (GRCm39) |
D214E |
probably benign |
Het |
| Slc30a8 |
T |
C |
15: 52,197,043 (GRCm39) |
V318A |
possibly damaging |
Het |
| Smarca2 |
A |
G |
19: 26,654,124 (GRCm39) |
T770A |
probably damaging |
Het |
| Sptbn4 |
T |
A |
7: 27,065,853 (GRCm39) |
H2031L |
probably damaging |
Het |
| Ssbp1 |
A |
G |
6: 40,457,804 (GRCm39) |
S141G |
probably benign |
Het |
| Tgm4 |
A |
G |
9: 122,890,808 (GRCm39) |
E45G |
probably damaging |
Het |
| Thra |
T |
A |
11: 98,653,777 (GRCm39) |
S203T |
probably benign |
Het |
| Tle2 |
T |
C |
10: 81,426,149 (GRCm39) |
Y763H |
probably damaging |
Het |
| Tmem141 |
T |
A |
2: 25,511,087 (GRCm39) |
I102L |
probably benign |
Het |
| Tmem63c |
C |
T |
12: 87,104,410 (GRCm39) |
T77I |
probably benign |
Het |
| Tspo2 |
C |
A |
17: 48,756,047 (GRCm39) |
|
probably null |
Het |
| Ttc19 |
T |
A |
11: 62,172,340 (GRCm39) |
M1K |
probably null |
Het |
| Ucp1 |
A |
G |
8: 84,024,520 (GRCm39) |
N282D |
possibly damaging |
Het |
| Vmn1r33 |
A |
T |
6: 66,589,198 (GRCm39) |
F119I |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,792,499 (GRCm39) |
M609L |
probably benign |
Het |
| Vwc2l |
A |
T |
1: 70,790,142 (GRCm39) |
H146L |
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 |
|
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'- AGCCTGTATGAAGCAAGCCAG -3'
(R):5'- TCTTTGGGGAATCTGCAGAG -3'
Sequencing Primer
(F):5'- TCCCAGATCTTGCAGTGTAGAAG -3'
(R):5'- TTTGGGGAATCTGCAGAGTGAGAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation