Incidental Mutation 'R0079:Ildr2'
ID |
19586 |
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 |
038366-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.543)
|
Stock # |
R0079 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
166081708-166144392 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 166135289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 347
(Y347F)
|
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: Y347F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107047 Gene: ENSMUSG00000040612 AA Change: Y347F
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: Y328F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142311 Gene: ENSMUSG00000040612 AA Change: Y328F
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: Y220F
|
SMART Domains |
Protein: ENSMUSP00000141502 Gene: ENSMUSG00000040612 AA Change: Y220F
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: Y239F
|
SMART Domains |
Protein: ENSMUSP00000141323 Gene: ENSMUSG00000040612 AA Change: Y239F
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: Y288F
|
SMART Domains |
Protein: ENSMUSP00000142152 Gene: ENSMUSG00000040612 AA Change: Y288F
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: Y347F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142240 Gene: ENSMUSG00000040612 AA Change: Y347F
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 |
0.0654 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.4%
- 20x: 90.7%
|
Validation Efficiency |
78% (155/199) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004P03Rik |
T |
A |
12: 17,057,183 (GRCm39) |
T105S |
possibly damaging |
Het |
Abca13 |
G |
A |
11: 9,243,493 (GRCm39) |
M1785I |
probably benign |
Het |
Adamts3 |
G |
C |
5: 89,840,912 (GRCm39) |
P804A |
probably benign |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Ank2 |
G |
T |
3: 126,728,264 (GRCm39) |
D776E |
probably benign |
Het |
Cep152 |
T |
A |
2: 125,460,373 (GRCm39) |
K193M |
possibly damaging |
Het |
Cep55 |
C |
T |
19: 38,048,769 (GRCm39) |
L142F |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,470,206 (GRCm39) |
Y1884C |
probably damaging |
Het |
Clasp1 |
T |
C |
1: 118,471,034 (GRCm39) |
L890P |
probably damaging |
Het |
Cul9 |
C |
A |
17: 46,848,589 (GRCm39) |
E716* |
probably null |
Het |
Cytip |
T |
A |
2: 58,050,006 (GRCm39) |
D21V |
probably benign |
Het |
Denr |
T |
G |
5: 124,062,908 (GRCm39) |
F137C |
probably damaging |
Het |
Dhrs3 |
A |
T |
4: 144,646,618 (GRCm39) |
S197C |
probably damaging |
Het |
Egr4 |
A |
T |
6: 85,489,751 (GRCm39) |
M103K |
probably damaging |
Het |
Eif4enif1 |
C |
T |
11: 3,192,676 (GRCm39) |
Q835* |
probably null |
Het |
Gckr |
A |
G |
5: 31,463,883 (GRCm39) |
I268V |
probably benign |
Het |
Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
Hpd |
T |
C |
5: 123,319,544 (GRCm39) |
Y8C |
probably damaging |
Het |
Il12rb2 |
A |
T |
6: 67,338,889 (GRCm39) |
F16I |
probably benign |
Het |
Kcnv1 |
T |
C |
15: 44,976,729 (GRCm39) |
D186G |
probably damaging |
Het |
Khdrbs2 |
A |
G |
1: 32,558,996 (GRCm39) |
|
probably null |
Het |
L1cam |
G |
T |
X: 72,913,364 (GRCm39) |
P16H |
probably damaging |
Het |
Lyn |
A |
G |
4: 3,746,768 (GRCm39) |
H161R |
probably damaging |
Het |
Mctp2 |
T |
A |
7: 71,863,864 (GRCm39) |
|
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mitf |
A |
C |
6: 97,973,401 (GRCm39) |
M220L |
probably benign |
Het |
Mrpl21 |
T |
C |
19: 3,334,807 (GRCm39) |
Y50H |
possibly damaging |
Het |
Myh1 |
T |
A |
11: 67,104,237 (GRCm39) |
L968Q |
probably damaging |
Het |
Myo3b |
A |
G |
2: 69,925,502 (GRCm39) |
K18E |
possibly damaging |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Nlrp2 |
T |
A |
7: 5,330,729 (GRCm39) |
T556S |
possibly damaging |
Het |
Nsmf |
T |
C |
2: 24,949,096 (GRCm39) |
|
probably benign |
Het |
Nsun7 |
C |
T |
5: 66,452,856 (GRCm39) |
P558S |
probably benign |
Het |
Or10h5 |
G |
A |
17: 33,435,079 (GRCm39) |
R80C |
probably benign |
Het |
Or1e34 |
T |
G |
11: 73,778,563 (GRCm39) |
I212L |
probably benign |
Het |
Or56a3 |
T |
C |
7: 104,735,135 (GRCm39) |
S71P |
probably damaging |
Het |
Or5d40 |
A |
T |
2: 88,015,698 (GRCm39) |
Y159F |
possibly damaging |
Het |
Phf19 |
T |
C |
2: 34,785,966 (GRCm39) |
N501S |
probably benign |
Het |
Ranbp17 |
A |
C |
11: 33,450,682 (GRCm39) |
I85S |
probably damaging |
Het |
Robo1 |
A |
G |
16: 72,730,230 (GRCm39) |
|
probably benign |
Het |
Sntg1 |
A |
G |
1: 8,749,286 (GRCm39) |
|
probably benign |
Het |
Snx15 |
A |
G |
19: 6,173,943 (GRCm39) |
L58P |
probably damaging |
Het |
Spink5 |
G |
T |
18: 44,110,831 (GRCm39) |
C134F |
probably damaging |
Het |
Strip2 |
T |
C |
6: 29,920,532 (GRCm39) |
|
probably null |
Het |
Taf1d |
C |
T |
9: 15,221,240 (GRCm39) |
A182V |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,796,380 (GRCm39) |
V475A |
possibly damaging |
Het |
Tent4b |
T |
A |
8: 88,926,631 (GRCm39) |
Y14N |
possibly damaging |
Het |
Tgds |
A |
T |
14: 118,353,647 (GRCm39) |
H223Q |
possibly damaging |
Het |
Thoc2 |
G |
T |
X: 40,952,985 (GRCm39) |
S230Y |
probably benign |
Het |
Tm9sf4 |
T |
A |
2: 153,033,065 (GRCm39) |
V290E |
probably damaging |
Het |
Trak2 |
A |
T |
1: 58,965,883 (GRCm39) |
L97Q |
probably damaging |
Het |
Trnau1ap |
A |
G |
4: 132,041,656 (GRCm39) |
Y145H |
probably damaging |
Het |
Vars2 |
A |
T |
17: 35,970,048 (GRCm39) |
D780E |
probably damaging |
Het |
Vmn1r170 |
T |
A |
7: 23,305,735 (GRCm39) |
S46T |
possibly damaging |
Het |
Vmn1r20 |
A |
T |
6: 57,408,777 (GRCm39) |
R34S |
possibly damaging |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Wdr64 |
T |
C |
1: 175,622,668 (GRCm39) |
M805T |
probably benign |
Het |
Xdh |
G |
A |
17: 74,198,213 (GRCm39) |
R1225C |
probably damaging |
Het |
Zfp341 |
T |
A |
2: 154,466,914 (GRCm39) |
Y94* |
probably null |
Het |
Zfp641 |
T |
C |
15: 98,186,970 (GRCm39) |
N218D |
probably benign |
Het |
Zscan22 |
T |
C |
7: 12,638,014 (GRCm39) |
|
probably null |
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 |
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 |
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'- ATGGAGCCAATTCCTGCTGAGTAAC -3'
(R):5'- ACAGATACACAGTGGTCCCTTCCC -3'
Sequencing Primer
(F):5'- TTCCTGCTGAGTAACACAAATACC -3'
(R):5'- TCTTTGTTATACTCCAAGGCTGG -3'
|
Posted On |
2013-04-11 |