Incidental Mutation 'R8688:Ildr2'
| ID |
668221 |
| 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 |
068543-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.543)
|
| Stock # |
R8688 (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 166097102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 107
(D107V)
|
| 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: D107V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107047
Gene: ENSMUSG00000040612
AA Change: D107V
| 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 damaging
Transcript: ENSMUST00000192426
AA Change: D107V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141961
Gene: ENSMUSG00000040612
AA Change: D107V
| 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: D107V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142311
Gene: ENSMUSG00000040612
AA Change: D107V
| 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 damaging
Transcript: ENSMUST00000192732
AA Change: D107V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141502
Gene: ENSMUSG00000040612
AA Change: D107V
| 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 damaging
Transcript: ENSMUST00000193860
AA Change: D107V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141323
Gene: ENSMUSG00000040612
AA Change: D107V
| 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: ENSMUST00000194964
AA Change: D107V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142152
Gene: ENSMUSG00000040612
AA Change: D107V
| 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 |
probably damaging
Transcript: ENSMUST00000195557
AA Change: D107V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142240
Gene: ENSMUSG00000040612
AA Change: D107V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (55/55) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
T |
5: 144,982,183 (GRCm39) |
T256I |
probably damaging |
Het |
| 2700097O09Rik |
C |
T |
12: 55,104,136 (GRCm39) |
G161D |
probably damaging |
Het |
| Acvr1 |
G |
A |
2: 58,352,961 (GRCm39) |
A333V |
probably damaging |
Het |
| Adamtsl1 |
A |
C |
4: 86,166,263 (GRCm39) |
S209R |
|
Het |
| Akr1c18 |
T |
C |
13: 4,187,194 (GRCm39) |
K207E |
possibly damaging |
Het |
| Anapc1 |
T |
G |
2: 128,527,748 (GRCm39) |
Q70P |
probably benign |
Het |
| Arhgef33 |
A |
G |
17: 80,680,615 (GRCm39) |
E585G |
probably damaging |
Het |
| Baz1b |
T |
G |
5: 135,271,343 (GRCm39) |
S1309A |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,240,307 (GRCm39) |
R14G |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,090,066 (GRCm39) |
Y745N |
|
Het |
| Ccdc150 |
A |
C |
1: 54,407,132 (GRCm39) |
Q1058H |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,298,510 (GRCm39) |
F74S |
probably damaging |
Het |
| CK137956 |
C |
T |
4: 127,844,739 (GRCm39) |
E335K |
possibly damaging |
Het |
| Cyp2c66 |
A |
T |
19: 39,151,884 (GRCm39) |
I200F |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,659,984 (GRCm39) |
W412R |
unknown |
Het |
| Dsel |
A |
T |
1: 111,790,468 (GRCm39) |
C22* |
probably null |
Het |
| Ep400 |
A |
G |
5: 110,868,685 (GRCm39) |
M949T |
unknown |
Het |
| Gcc1 |
A |
T |
6: 28,418,739 (GRCm39) |
Y531* |
probably null |
Het |
| Gm10277 |
T |
C |
11: 77,676,405 (GRCm39) |
R189G |
unknown |
Het |
| Gm17078 |
T |
A |
14: 51,848,687 (GRCm39) |
R17* |
probably null |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Grip1 |
A |
G |
10: 119,835,809 (GRCm39) |
I502V |
probably benign |
Het |
| H2-M9 |
A |
T |
17: 36,953,034 (GRCm39) |
V91D |
probably damaging |
Het |
| Hcls1 |
T |
C |
16: 36,781,821 (GRCm39) |
L310P |
probably benign |
Het |
| Hsd17b11 |
T |
A |
5: 104,169,584 (GRCm39) |
I8F |
probably benign |
Het |
| Iftap |
T |
C |
2: 101,440,916 (GRCm39) |
E29G |
probably damaging |
Het |
| Ivl |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,608 (GRCm39) |
|
probably benign |
Het |
| Josd2 |
T |
C |
7: 44,120,640 (GRCm39) |
W126R |
probably damaging |
Het |
| Ltbp2 |
T |
A |
12: 84,850,578 (GRCm39) |
D912V |
probably benign |
Het |
| Mdc1 |
A |
G |
17: 36,161,383 (GRCm39) |
I765M |
probably benign |
Het |
| Mroh1 |
A |
G |
15: 76,312,550 (GRCm39) |
E579G |
probably benign |
Het |
| Nmur2 |
T |
C |
11: 55,931,654 (GRCm39) |
N19S |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,946,909 (GRCm39) |
Y4075C |
probably damaging |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or4k40 |
C |
T |
2: 111,250,958 (GRCm39) |
V113I |
probably benign |
Het |
| Or8b51 |
T |
A |
9: 38,569,047 (GRCm39) |
I214L |
probably benign |
Het |
| Orm1 |
G |
A |
4: 63,264,578 (GRCm39) |
V167M |
probably damaging |
Het |
| Phf14 |
A |
G |
6: 11,990,034 (GRCm39) |
N688D |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,631,012 (GRCm39) |
K219E |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,838,310 (GRCm39) |
T1683A |
probably benign |
Het |
| Ptprh |
T |
A |
7: 4,554,022 (GRCm39) |
Q815L |
probably benign |
Het |
| Rag1 |
A |
T |
2: 101,472,968 (GRCm39) |
Y725N |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,416,628 (GRCm39) |
I1495F |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,356,047 (GRCm39) |
V229A |
possibly damaging |
Het |
| Siglech |
A |
G |
7: 55,418,362 (GRCm39) |
D110G |
probably benign |
Het |
| St8sia2 |
A |
T |
7: 73,593,092 (GRCm39) |
D321E |
probably damaging |
Het |
| Stxbp3 |
A |
G |
3: 108,709,425 (GRCm39) |
|
probably benign |
Het |
| Tbccd1 |
A |
T |
16: 22,641,208 (GRCm39) |
S390T |
possibly damaging |
Het |
| Tg |
T |
A |
15: 66,566,802 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
A |
15: 27,748,324 (GRCm39) |
N2443Y |
possibly damaging |
Het |
| Ube2s |
C |
T |
7: 4,813,577 (GRCm39) |
M62I |
probably benign |
Het |
| Ugt2b37 |
T |
C |
5: 87,390,240 (GRCm39) |
D402G |
possibly damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,004,069 (GRCm39) |
N94S |
probably damaging |
Het |
| Wapl |
T |
A |
14: 34,414,549 (GRCm39) |
S470R |
possibly damaging |
Het |
| Xrra1 |
A |
G |
7: 99,555,752 (GRCm39) |
E373G |
probably damaging |
Het |
| Zfp335 |
A |
G |
2: 164,734,113 (GRCm39) |
Y1329H |
probably damaging |
Het |
| Zfp689 |
C |
A |
7: 127,044,084 (GRCm39) |
C182F |
probably benign |
Het |
| Zfp933 |
T |
A |
4: 147,911,249 (GRCm39) |
S116C |
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 |
|
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 |
|
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'- TTCAGGTCACAGTGCCTGAC -3'
(R):5'- AGAGTTGACTTACTTTCCCCTGTG -3'
Sequencing Primer
(F):5'- AAGAAGGTGGCCATGCTCTTC -3'
(R):5'- CCCTGTGTCTGGGGAAAAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation