Incidental Mutation 'R9181:Ildr2'
| ID |
697003 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.546)
|
| Stock # |
R9181 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
166081708-166144392 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 166122283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 242
(D242V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111416]
[ENSMUST00000192426]
[ENSMUST00000192638]
[ENSMUST00000192732]
[ENSMUST00000193860]
[ENSMUST00000194964]
[ENSMUST00000195557]
|
| AlphaFold |
B5TVM2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111416
AA Change: D242V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107047
Gene: ENSMUSG00000040612
AA Change: D242V
| 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 |
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: D223V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142311
Gene: ENSMUSG00000040612
AA Change: D223V
| 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 |
probably benign
Transcript: ENSMUST00000192732
|
| SMART Domains |
Protein: ENSMUSP00000141502
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 |
|
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 |
probably benign
Transcript: ENSMUST00000193860
|
| SMART Domains |
Protein: ENSMUSP00000141323
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 |
|
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: D242V
|
| SMART Domains |
Protein: ENSMUSP00000142152
Gene: ENSMUSG00000040612
AA Change: D242V
| 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: D242V
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142240
Gene: ENSMUSG00000040612
AA Change: D242V
| 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 |
0.4999 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (53/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
G |
T |
5: 105,121,962 (GRCm39) |
D138E |
probably benign |
Het |
| Acvr2a |
T |
A |
2: 48,760,307 (GRCm39) |
I21K |
probably damaging |
Het |
| Adam30 |
C |
G |
3: 98,070,194 (GRCm39) |
P676A |
probably benign |
Het |
| Ankrd28 |
A |
C |
14: 31,470,627 (GRCm39) |
H145Q |
probably damaging |
Het |
| Ap3m2 |
A |
G |
8: 23,289,774 (GRCm39) |
Y110H |
probably damaging |
Het |
| Apoc4 |
A |
G |
7: 19,412,665 (GRCm39) |
S27P |
possibly damaging |
Het |
| Bbs1 |
A |
C |
19: 4,941,070 (GRCm39) |
L548R |
possibly damaging |
Het |
| Cfap99 |
A |
T |
5: 34,471,602 (GRCm39) |
D346V |
probably damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,189,870 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,703,612 (GRCm39) |
K436E |
possibly damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Dbf4 |
A |
G |
5: 8,462,206 (GRCm39) |
V105A |
possibly damaging |
Het |
| Disp2 |
T |
A |
2: 118,617,393 (GRCm39) |
V129E |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,181,194 (GRCm39) |
V1027A |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,231,818 (GRCm39) |
I3137N |
probably benign |
Het |
| F5 |
A |
G |
1: 164,019,895 (GRCm39) |
D790G |
probably benign |
Het |
| Fan1 |
A |
G |
7: 64,016,400 (GRCm39) |
S575P |
probably damaging |
Het |
| Gemin5 |
C |
T |
11: 58,021,035 (GRCm39) |
A1051T |
probably benign |
Het |
| Gsta4 |
A |
G |
9: 78,105,597 (GRCm39) |
Y9C |
probably damaging |
Het |
| H2-M3 |
C |
A |
17: 37,583,172 (GRCm39) |
A211E |
probably damaging |
Het |
| Ifna1 |
A |
T |
4: 88,768,453 (GRCm39) |
M44L |
probably benign |
Het |
| Kif27 |
G |
T |
13: 58,492,543 (GRCm39) |
Q199K |
probably damaging |
Het |
| Lmf1 |
T |
A |
17: 25,804,718 (GRCm39) |
L132H |
probably damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,803,241 (GRCm39) |
N173S |
probably benign |
Het |
| Mettl25b |
A |
G |
3: 87,835,392 (GRCm39) |
|
probably benign |
Het |
| Mgat4c |
A |
T |
10: 102,225,123 (GRCm39) |
N446Y |
probably benign |
Het |
| Minar1 |
A |
G |
9: 89,485,394 (GRCm39) |
M1T |
probably null |
Het |
| Mocs1 |
T |
A |
17: 49,756,801 (GRCm39) |
M261K |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,524,108 (GRCm39) |
F457L |
probably damaging |
Het |
| Nlrp4e |
C |
T |
7: 23,061,270 (GRCm39) |
R954* |
probably null |
Het |
| Or4s2 |
T |
C |
2: 88,473,348 (GRCm39) |
M79T |
probably benign |
Het |
| Pigu |
T |
C |
2: 155,141,109 (GRCm39) |
I261M |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,375,318 (GRCm39) |
I1576N |
probably damaging |
Het |
| Plekhg6 |
A |
C |
6: 125,355,854 (GRCm39) |
|
probably benign |
Het |
| Pmpca |
T |
C |
2: 26,283,365 (GRCm39) |
L388P |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,104,421 (GRCm39) |
I818N |
probably damaging |
Het |
| Pramel46 |
A |
T |
5: 95,418,414 (GRCm39) |
V194D |
probably benign |
Het |
| Radil |
A |
G |
5: 142,480,722 (GRCm39) |
Y578H |
probably damaging |
Het |
| Retnlb |
A |
G |
16: 48,639,084 (GRCm39) |
D95G |
probably damaging |
Het |
| Rufy2 |
A |
T |
10: 62,836,166 (GRCm39) |
Y365F |
possibly damaging |
Het |
| Ssc5d |
A |
G |
7: 4,945,814 (GRCm39) |
T949A |
possibly damaging |
Het |
| Svil |
C |
A |
18: 5,090,833 (GRCm39) |
R1312S |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,063,994 (GRCm39) |
T7142A |
probably damaging |
Het |
| Tert |
A |
T |
13: 73,785,294 (GRCm39) |
|
probably benign |
Het |
| Tpbgl |
A |
T |
7: 99,274,776 (GRCm39) |
D360E |
probably damaging |
Het |
| Traj13 |
G |
A |
14: 54,443,248 (GRCm39) |
V17I |
unknown |
Het |
| Trim13 |
G |
A |
14: 61,842,046 (GRCm39) |
R21Q |
possibly damaging |
Het |
| Wdr36 |
T |
C |
18: 32,981,382 (GRCm39) |
V357A |
possibly damaging |
Het |
| Xdh |
G |
A |
17: 74,232,006 (GRCm39) |
R235C |
probably damaging |
Het |
| Zfp971 |
T |
C |
2: 177,674,736 (GRCm39) |
F112L |
probably damaging |
Het |
| Znfx1 |
C |
T |
2: 166,879,738 (GRCm39) |
C1546Y |
probably damaging |
Het |
| Znfx1 |
T |
A |
2: 166,880,137 (GRCm39) |
E1413V |
probably benign |
Het |
| Zscan4c |
A |
G |
7: 10,743,741 (GRCm39) |
M447V |
probably benign |
Het |
| Zyx |
T |
A |
6: 42,334,818 (GRCm39) |
D541E |
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 |
|
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 |
|
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'- TGGATGCCGTGTCCTGAAAG -3'
(R):5'- TTAGGAATGCATGACACGCGTG -3'
Sequencing Primer
(F):5'- TGTCCTGAAAGGGGGCTAC -3'
(R):5'- TGACACGCGTGGATAAACC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation