Incidental Mutation 'R5101:Ildr2'
| ID |
392338 |
| 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 |
| MMRRC Submission |
042852-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.543)
|
| Stock # |
R5101 (G1)
|
| Quality Score |
218 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
166081708-166144392 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 166135331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 342
(D342G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111416]
[ENSMUST00000192426]
[ENSMUST00000192638]
[ENSMUST00000192732]
[ENSMUST00000193860]
[ENSMUST00000194964]
[ENSMUST00000195557]
|
| AlphaFold |
B5TVM2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111416
AA Change: D361G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107047
Gene: ENSMUSG00000040612
AA Change: D361G
| 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: D342G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142311
Gene: ENSMUSG00000040612
AA Change: D342G
| 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: D234G
|
| SMART Domains |
Protein: ENSMUSP00000141502
Gene: ENSMUSG00000040612
AA Change: D234G
| 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: D253G
|
| SMART Domains |
Protein: ENSMUSP00000141323
Gene: ENSMUSG00000040612
AA Change: D253G
| 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 |
unknown
Transcript: ENSMUST00000194964
AA Change: D302G
|
| SMART Domains |
Protein: ENSMUSP00000142152
Gene: ENSMUSG00000040612
AA Change: D302G
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195557
AA Change: D361G
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142240
Gene: ENSMUSG00000040612
AA Change: D361G
| 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 |
|
| Meta Mutation Damage Score |
0.1821 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
| Validation Efficiency |
100% (57/57) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
T |
C |
12: 21,423,406 (GRCm39) |
T10A |
possibly damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,763,563 (GRCm39) |
F288S |
probably benign |
Het |
| Ago2 |
A |
G |
15: 72,991,339 (GRCm39) |
V533A |
probably damaging |
Het |
| Akap9 |
T |
G |
5: 4,051,748 (GRCm39) |
V1505G |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,061,934 (GRCm39) |
I3439T |
probably benign |
Het |
| C1qtnf7 |
T |
A |
5: 43,773,314 (GRCm39) |
Y204* |
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,265,549 (GRCm39) |
E1461G |
probably damaging |
Het |
| Cdh3 |
C |
T |
8: 107,268,024 (GRCm39) |
A353V |
possibly damaging |
Het |
| Clec4d |
A |
G |
6: 123,244,071 (GRCm39) |
Y60C |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,228,111 (GRCm39) |
T2326S |
possibly damaging |
Het |
| Cnot1 |
G |
A |
8: 96,486,815 (GRCm39) |
L631F |
possibly damaging |
Het |
| Cntnap5a |
C |
T |
1: 116,370,026 (GRCm39) |
T881I |
probably benign |
Het |
| Col6a1 |
T |
A |
10: 76,545,740 (GRCm39) |
T911S |
unknown |
Het |
| Ctsw |
A |
G |
19: 5,515,703 (GRCm39) |
V287A |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 44,017,622 (GRCm39) |
E2G |
unknown |
Het |
| Cytip |
A |
T |
2: 58,037,911 (GRCm39) |
I151N |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,909,577 (GRCm39) |
T4399A |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 106,846,980 (GRCm39) |
I883N |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,395,608 (GRCm39) |
*530W |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gp1ba |
G |
A |
11: 70,532,225 (GRCm39) |
V664M |
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,245,913 (GRCm39) |
I481N |
probably damaging |
Het |
| Gvin-ps5 |
T |
C |
7: 105,929,096 (GRCm39) |
|
noncoding transcript |
Het |
| Krt87 |
A |
G |
15: 101,385,391 (GRCm39) |
I327T |
probably benign |
Het |
| Lats1 |
T |
A |
10: 7,588,348 (GRCm39) |
C988* |
probably null |
Het |
| Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
| Mast4 |
T |
C |
13: 102,872,864 (GRCm39) |
D2168G |
probably benign |
Het |
| Myo6 |
G |
T |
9: 80,177,321 (GRCm39) |
E606* |
probably null |
Het |
| Nek7 |
A |
G |
1: 138,443,431 (GRCm39) |
V174A |
probably benign |
Het |
| Nid1 |
T |
A |
13: 13,658,339 (GRCm39) |
C695S |
probably damaging |
Het |
| Nme8 |
A |
G |
13: 19,875,017 (GRCm39) |
|
probably null |
Het |
| Nr2c2 |
T |
C |
6: 92,131,497 (GRCm39) |
|
probably null |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2ag18 |
A |
T |
7: 106,405,420 (GRCm39) |
I83K |
possibly damaging |
Het |
| Or4x11 |
A |
G |
2: 89,867,391 (GRCm39) |
M43V |
probably benign |
Het |
| Or51ab3 |
G |
A |
7: 103,201,150 (GRCm39) |
E53K |
probably damaging |
Het |
| Or9g19 |
A |
G |
2: 85,600,268 (GRCm39) |
N41S |
probably damaging |
Het |
| Pms2 |
A |
G |
5: 143,865,006 (GRCm39) |
D696G |
probably damaging |
Het |
| Psapl1 |
T |
A |
5: 36,361,494 (GRCm39) |
C29S |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,291,850 (GRCm39) |
V1632D |
probably damaging |
Het |
| Slc22a1 |
C |
T |
17: 12,886,129 (GRCm39) |
G168D |
probably damaging |
Het |
| Smad4 |
A |
G |
18: 73,808,931 (GRCm39) |
V112A |
probably benign |
Het |
| Smc4 |
T |
C |
3: 68,935,845 (GRCm39) |
V796A |
probably benign |
Het |
| Smco4 |
A |
G |
9: 15,455,968 (GRCm39) |
E18G |
unknown |
Het |
| Spata31e2 |
T |
C |
1: 26,722,417 (GRCm39) |
E921G |
possibly damaging |
Het |
| Sugp2 |
A |
G |
8: 70,713,139 (GRCm39) |
E1035G |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,721,393 (GRCm39) |
S820P |
probably damaging |
Het |
| Syn2 |
T |
C |
6: 115,240,860 (GRCm39) |
L410P |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,844,811 (GRCm39) |
N466S |
probably damaging |
Het |
| Uba1y |
T |
G |
Y: 821,447 (GRCm39) |
|
probably null |
Het |
| Unc79 |
T |
C |
12: 103,078,769 (GRCm39) |
S1645P |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,576,217 (GRCm39) |
S363C |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,571,563 (GRCm39) |
Y458H |
probably damaging |
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 |
|
R2760:Ildr2
|
UTSW |
1 |
166,131,175 (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 |
|
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'- AGCCAATTCCTGCTGAGTAAC -3'
(R):5'- ATACACAGTGGTCCCTTCCC -3'
Sequencing Primer
(F):5'- TACCACCTGTGATCATCTACAGC -3'
(R):5'- ACTCATGGCCGTCACCTGTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation