Incidental Mutation 'R2760:Ildr2'
ID |
253973 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ildr2
|
Ensembl Gene |
ENSMUSG00000040612 |
Gene Name |
immunoglobulin-like domain containing receptor 2 |
Synonyms |
Dbsm1, ENSMUSG00000040612, OTTMUSG00000021748, 2810478N18Rik, 3110063L10Rik, D1Ertd471e |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.543)
|
Stock # |
R2760 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
166081708-166144392 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 166131175 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 344
(R344G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107047
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111416]
[ENSMUST00000192426]
[ENSMUST00000192638]
[ENSMUST00000192732]
[ENSMUST00000193860]
[ENSMUST00000195557]
[ENSMUST00000194964]
|
AlphaFold |
B5TVM2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111416
AA Change: R344G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107047 Gene: ENSMUSG00000040612 AA Change: R344G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
19 |
41 |
N/A |
INTRINSIC |
IG
|
42 |
181 |
4.6e-3 |
SMART |
Pfam:LSR
|
201 |
248 |
2e-26 |
PFAM |
low complexity region
|
260 |
278 |
N/A |
INTRINSIC |
low complexity region
|
512 |
527 |
N/A |
INTRINSIC |
low complexity region
|
591 |
607 |
N/A |
INTRINSIC |
low complexity region
|
639 |
650 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168347
|
SMART Domains |
Protein: ENSMUSP00000131549 Gene: ENSMUSG00000091393
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
low complexity region
|
80 |
113 |
N/A |
INTRINSIC |
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
low complexity region
|
180 |
193 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192426
|
SMART Domains |
Protein: ENSMUSP00000141961 Gene: ENSMUSG00000040612
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
IG
|
42 |
181 |
1.9e-5 |
SMART |
IG_like
|
121 |
167 |
2.9e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192638
AA Change: R325G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142311 Gene: ENSMUSG00000040612 AA Change: R325G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
IG
|
42 |
181 |
1.9e-5 |
SMART |
IG_like
|
121 |
167 |
2.9e-2 |
SMART |
Pfam:LSR
|
182 |
230 |
2e-23 |
PFAM |
low complexity region
|
241 |
259 |
N/A |
INTRINSIC |
low complexity region
|
493 |
508 |
N/A |
INTRINSIC |
low complexity region
|
572 |
588 |
N/A |
INTRINSIC |
low complexity region
|
620 |
631 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000192732
AA Change: R217G
|
SMART Domains |
Protein: ENSMUSP00000141502 Gene: ENSMUSG00000040612 AA Change: R217G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
IG
|
42 |
181 |
1.9e-5 |
SMART |
IG_like
|
121 |
167 |
2.9e-2 |
SMART |
low complexity region
|
385 |
400 |
N/A |
INTRINSIC |
low complexity region
|
464 |
480 |
N/A |
INTRINSIC |
low complexity region
|
512 |
523 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000193860
AA Change: R236G
|
SMART Domains |
Protein: ENSMUSP00000141323 Gene: ENSMUSG00000040612 AA Change: R236G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
IG
|
42 |
181 |
1.9e-5 |
SMART |
IG_like
|
121 |
167 |
2.9e-2 |
SMART |
low complexity region
|
404 |
419 |
N/A |
INTRINSIC |
low complexity region
|
483 |
499 |
N/A |
INTRINSIC |
low complexity region
|
531 |
542 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000195557
AA Change: R344G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142240 Gene: ENSMUSG00000040612 AA Change: R344G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
IG
|
42 |
181 |
1.9e-5 |
SMART |
IG_like
|
121 |
167 |
2.9e-2 |
SMART |
Pfam:LSR
|
201 |
249 |
1.2e-23 |
PFAM |
low complexity region
|
260 |
278 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000194964
AA Change: R285G
|
SMART Domains |
Protein: ENSMUSP00000142152 Gene: ENSMUSG00000040612 AA Change: R285G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
IG
|
42 |
181 |
1.9e-5 |
SMART |
IG_like
|
121 |
167 |
2.9e-2 |
SMART |
Pfam:LSR
|
201 |
249 |
1.9e-23 |
PFAM |
low complexity region
|
453 |
468 |
N/A |
INTRINSIC |
low complexity region
|
532 |
548 |
N/A |
INTRINSIC |
low complexity region
|
580 |
591 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced stop mutation at threonine-87 display a reduced pancreatic beta-cell replication rate, decreased beta-cell mass, reduced insulin/glucose ratio in blood, impaired glucose tolerance, and persistent mild hypoinsulinemia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
Atp8a2 |
C |
T |
14: 60,097,641 (GRCm39) |
V796I |
probably benign |
Het |
Btnl1 |
T |
G |
17: 34,600,012 (GRCm39) |
W172G |
probably damaging |
Het |
Ceacam1 |
T |
C |
7: 25,176,899 (GRCm39) |
T21A |
probably damaging |
Het |
Dipk1b |
A |
G |
2: 26,525,837 (GRCm39) |
H257R |
probably benign |
Het |
Frmpd1 |
A |
C |
4: 45,244,667 (GRCm39) |
I119L |
possibly damaging |
Het |
Haus6 |
A |
T |
4: 86,501,413 (GRCm39) |
Y819* |
probably null |
Het |
Irs1 |
T |
C |
1: 82,266,291 (GRCm39) |
I642V |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lum |
T |
C |
10: 97,404,633 (GRCm39) |
V176A |
probably benign |
Het |
Nobox |
A |
G |
6: 43,281,040 (GRCm39) |
L478P |
probably damaging |
Het |
Or10g6 |
T |
A |
9: 39,933,692 (GRCm39) |
M1K |
probably null |
Het |
Or4a67 |
T |
A |
2: 88,597,980 (GRCm39) |
R226S |
possibly damaging |
Het |
Or55b4 |
T |
C |
7: 102,133,583 (GRCm39) |
H248R |
probably damaging |
Het |
Or6b2b |
A |
G |
1: 92,418,802 (GRCm39) |
V225A |
probably damaging |
Het |
Or7a42 |
A |
T |
10: 78,791,876 (GRCm39) |
Y279F |
probably damaging |
Het |
Rtn1 |
A |
T |
12: 72,455,136 (GRCm39) |
C64S |
probably benign |
Het |
Senp6 |
A |
G |
9: 80,029,260 (GRCm39) |
Y285C |
probably null |
Het |
Slco1a5 |
C |
A |
6: 142,195,997 (GRCm39) |
M335I |
probably benign |
Het |
Spg11 |
A |
T |
2: 121,927,840 (GRCm39) |
I648K |
probably damaging |
Het |
Ube3d |
T |
C |
9: 86,305,027 (GRCm39) |
I272V |
probably benign |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Utrn |
A |
G |
10: 12,566,622 (GRCm39) |
V1180A |
probably damaging |
Het |
Vill |
T |
C |
9: 118,895,950 (GRCm39) |
|
probably null |
Het |
Vmn2r101 |
T |
C |
17: 19,809,901 (GRCm39) |
I229T |
probably benign |
Het |
Zbtb8b |
A |
T |
4: 129,326,293 (GRCm39) |
L291M |
probably benign |
Het |
|
Other mutations in Ildr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01993:Ildr2
|
APN |
1 |
166,096,939 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0079:Ildr2
|
UTSW |
1 |
166,135,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R0371:Ildr2
|
UTSW |
1 |
166,131,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R0426:Ildr2
|
UTSW |
1 |
166,136,468 (GRCm39) |
missense |
probably benign |
0.00 |
R1528:Ildr2
|
UTSW |
1 |
166,098,064 (GRCm39) |
splice site |
probably null |
|
R1570:Ildr2
|
UTSW |
1 |
166,131,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R2143:Ildr2
|
UTSW |
1 |
166,096,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R3960:Ildr2
|
UTSW |
1 |
166,136,909 (GRCm39) |
missense |
probably damaging |
0.99 |
R4965:Ildr2
|
UTSW |
1 |
166,135,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R5101:Ildr2
|
UTSW |
1 |
166,135,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R5351:Ildr2
|
UTSW |
1 |
166,136,478 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6021:Ildr2
|
UTSW |
1 |
166,131,173 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6841:Ildr2
|
UTSW |
1 |
166,098,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R7028:Ildr2
|
UTSW |
1 |
166,131,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R7117:Ildr2
|
UTSW |
1 |
166,123,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R7169:Ildr2
|
UTSW |
1 |
166,135,503 (GRCm39) |
critical splice donor site |
probably null |
|
R7344:Ildr2
|
UTSW |
1 |
166,122,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R7612:Ildr2
|
UTSW |
1 |
166,135,361 (GRCm39) |
missense |
probably benign |
0.43 |
R7697:Ildr2
|
UTSW |
1 |
166,122,300 (GRCm39) |
missense |
probably benign |
0.21 |
R7869:Ildr2
|
UTSW |
1 |
166,136,861 (GRCm39) |
missense |
probably benign |
0.01 |
R7908:Ildr2
|
UTSW |
1 |
166,135,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R8688:Ildr2
|
UTSW |
1 |
166,097,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R9181:Ildr2
|
UTSW |
1 |
166,122,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R9258:Ildr2
|
UTSW |
1 |
166,131,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R9435:Ildr2
|
UTSW |
1 |
166,136,691 (GRCm39) |
missense |
probably damaging |
0.98 |
R9647:Ildr2
|
UTSW |
1 |
166,137,038 (GRCm39) |
missense |
probably benign |
0.09 |
R9748:Ildr2
|
UTSW |
1 |
166,096,889 (GRCm39) |
missense |
probably damaging |
1.00 |
X0009:Ildr2
|
UTSW |
1 |
166,096,880 (GRCm39) |
missense |
probably benign |
0.05 |
Z1177:Ildr2
|
UTSW |
1 |
166,136,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGGGCAATTGTTCTAACTGG -3'
(R):5'- ACGCTTTCACTAGAATCCCC -3'
Sequencing Primer
(F):5'- GGAACCATGTTTTTCTGCTTGG -3'
(R):5'- GCTTTCACTAGAATCCCCTTCTATTC -3'
|
Posted On |
2014-12-04 |