Incidental Mutation 'R0371:Ildr2'
| ID |
30454 |
| 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 |
038577-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.543)
|
| Stock # |
R0371 (G1)
|
| Quality Score |
207 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
166081708-166144392 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 166131133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 330
(V330I)
|
| 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: V330I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000107047
Gene: ENSMUSG00000040612
AA Change: V330I
| 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 |
possibly damaging
Transcript: ENSMUST00000192638
AA Change: V311I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142311
Gene: ENSMUSG00000040612
AA Change: V311I
| 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: V203I
|
| SMART Domains |
Protein: ENSMUSP00000141502
Gene: ENSMUSG00000040612
AA Change: V203I
| 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: V222I
|
| SMART Domains |
Protein: ENSMUSP00000141323
Gene: ENSMUSG00000040612
AA Change: V222I
| 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: V271I
|
| SMART Domains |
Protein: ENSMUSP00000142152
Gene: ENSMUSG00000040612
AA Change: V271I
| 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: V330I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142240
Gene: ENSMUSG00000040612
AA Change: V330I
| 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 |
0.1111 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.6%
|
| Validation Efficiency |
99% (67/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
G |
A |
16: 4,105,911 (GRCm39) |
R1068C |
probably benign |
Het |
| Afmid |
C |
T |
11: 117,725,966 (GRCm39) |
|
probably benign |
Het |
| Aqr |
A |
G |
2: 113,988,085 (GRCm39) |
V159A |
possibly damaging |
Het |
| Atp6v0d2 |
G |
C |
4: 19,880,033 (GRCm39) |
T288R |
possibly damaging |
Het |
| Btnl1 |
T |
C |
17: 34,600,031 (GRCm39) |
V178A |
probably damaging |
Het |
| Ccdc110 |
T |
A |
8: 46,395,843 (GRCm39) |
M578K |
possibly damaging |
Het |
| Ccdc38 |
G |
T |
10: 93,398,674 (GRCm39) |
E51* |
probably null |
Het |
| Cep290 |
T |
A |
10: 100,354,426 (GRCm39) |
|
probably benign |
Het |
| Cilp2 |
T |
C |
8: 70,334,256 (GRCm39) |
E914G |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,450,307 (GRCm39) |
N208S |
probably benign |
Het |
| Ctrb1 |
T |
A |
8: 112,413,783 (GRCm39) |
I194F |
probably benign |
Het |
| Cyp4a12a |
C |
G |
4: 115,183,880 (GRCm39) |
R229G |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,207,339 (GRCm39) |
V337M |
probably damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,271,186 (GRCm39) |
N321S |
probably benign |
Het |
| Enpep |
C |
T |
3: 129,077,516 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
C |
8: 45,404,929 (GRCm39) |
L560P |
probably damaging |
Het |
| Fdxr |
T |
C |
11: 115,166,915 (GRCm39) |
H58R |
possibly damaging |
Het |
| Filip1 |
G |
T |
9: 79,767,373 (GRCm39) |
P147T |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,703,190 (GRCm39) |
E318K |
possibly damaging |
Het |
| Grk2 |
T |
C |
19: 4,341,614 (GRCm39) |
|
probably null |
Het |
| Gvin-ps6 |
A |
T |
7: 106,021,986 (GRCm39) |
C339S |
unknown |
Het |
| Havcr1 |
T |
C |
11: 46,643,416 (GRCm39) |
I112T |
possibly damaging |
Het |
| Hjurp |
G |
A |
1: 88,205,090 (GRCm39) |
|
probably benign |
Het |
| Ino80d |
T |
C |
1: 63,097,115 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
A |
G |
6: 90,647,385 (GRCm39) |
|
probably benign |
Het |
| Irf2bpl |
C |
T |
12: 86,928,417 (GRCm39) |
W752* |
probably null |
Het |
| Kdr |
T |
A |
5: 76,102,494 (GRCm39) |
H1211L |
probably benign |
Het |
| Klri2 |
A |
G |
6: 129,709,106 (GRCm39) |
*249R |
probably null |
Het |
| Ktn1 |
A |
T |
14: 47,961,460 (GRCm39) |
K1054* |
probably null |
Het |
| Lactb2 |
A |
G |
1: 13,720,984 (GRCm39) |
S83P |
possibly damaging |
Het |
| Lrrc3b |
A |
T |
14: 15,358,560 (GRCm38) |
C15* |
probably null |
Het |
| Mrs2 |
T |
C |
13: 25,177,078 (GRCm39) |
I430V |
probably benign |
Het |
| Myo3b |
C |
T |
2: 70,083,304 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
T |
12: 13,381,096 (GRCm39) |
T696I |
probably damaging |
Het |
| Nsun6 |
T |
C |
2: 15,034,898 (GRCm39) |
D240G |
probably damaging |
Het |
| Nup107 |
T |
C |
10: 117,599,674 (GRCm39) |
E615G |
probably damaging |
Het |
| Or2a25 |
A |
T |
6: 42,888,872 (GRCm39) |
R138S |
probably benign |
Het |
| Or3a1d |
T |
A |
11: 74,237,760 (GRCm39) |
I217F |
probably damaging |
Het |
| Or4k77 |
A |
T |
2: 111,199,498 (GRCm39) |
I174L |
probably benign |
Het |
| Or5ac23 |
A |
G |
16: 59,149,585 (GRCm39) |
C96R |
possibly damaging |
Het |
| Pabpc1l |
G |
A |
2: 163,877,192 (GRCm39) |
V256M |
probably benign |
Het |
| Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
| Sik1 |
T |
C |
17: 32,067,958 (GRCm39) |
D409G |
probably benign |
Het |
| Slc22a22 |
A |
T |
15: 57,113,131 (GRCm39) |
D369E |
possibly damaging |
Het |
| Smg1 |
T |
A |
7: 117,767,523 (GRCm39) |
|
probably benign |
Het |
| Snap29 |
C |
A |
16: 17,224,067 (GRCm39) |
D27E |
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Sorcs3 |
A |
G |
19: 48,592,333 (GRCm39) |
I333V |
probably benign |
Het |
| Spag7 |
A |
G |
11: 70,555,622 (GRCm39) |
M105T |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,748,432 (GRCm39) |
S407T |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,113,983 (GRCm39) |
N854S |
probably benign |
Het |
| Syne2 |
T |
C |
12: 75,980,619 (GRCm39) |
S1460P |
probably damaging |
Het |
| Taok3 |
C |
T |
5: 117,344,752 (GRCm39) |
Q160* |
probably null |
Het |
| Tchhl1 |
C |
A |
3: 93,376,884 (GRCm39) |
A27E |
probably damaging |
Het |
| Tet1 |
T |
C |
10: 62,714,178 (GRCm39) |
D539G |
probably damaging |
Het |
| Tut1 |
T |
C |
19: 8,940,137 (GRCm39) |
F374L |
probably damaging |
Het |
| Unc5c |
C |
T |
3: 141,533,283 (GRCm39) |
P770S |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,394 (GRCm39) |
N393K |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,477,556 (GRCm39) |
H285L |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,941,583 (GRCm39) |
S700L |
possibly damaging |
Het |
| Wscd1 |
A |
G |
11: 71,679,549 (GRCm39) |
D474G |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,762,190 (GRCm39) |
N106S |
probably damaging |
Het |
| Zfp345 |
G |
T |
2: 150,313,983 (GRCm39) |
T518N |
possibly damaging |
Het |
| Zfp648 |
A |
T |
1: 154,080,413 (GRCm39) |
S191C |
possibly damaging |
Het |
| Zkscan8 |
C |
T |
13: 21,710,844 (GRCm39) |
E89K |
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 |
|
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 |
|
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'- ATGAGCTTGCTCCTCCACCAGAAC -3'
(R):5'- TTCAAATCTGATGACCTCGGCCCC -3'
Sequencing Primer
(F):5'- CCTGATCGAGGATCTCAAGTG -3'
(R):5'- CCCAACCCCCACCATCTC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation