Incidental Mutation 'R6021:Ildr2'
ID |
478913 |
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 |
044194-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.546)
|
Stock # |
R6021 (G1)
|
Quality Score |
176.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
166081708-166144392 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 166131173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 343
(M343K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107047
(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: M343K
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000107047 Gene: ENSMUSG00000040612 AA Change: M343K
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 benign
Transcript: ENSMUST00000192638
AA Change: M324K
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000142311 Gene: ENSMUSG00000040612 AA Change: M324K
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: M216K
|
SMART Domains |
Protein: ENSMUSP00000141502 Gene: ENSMUSG00000040612 AA Change: M216K
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: M235K
|
SMART Domains |
Protein: ENSMUSP00000141323 Gene: ENSMUSG00000040612 AA Change: M235K
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: M284K
|
SMART Domains |
Protein: ENSMUSP00000142152 Gene: ENSMUSG00000040612 AA Change: M284K
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: M343K
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000142240 Gene: ENSMUSG00000040612 AA Change: M343K
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 |
0.1743 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.2%
|
Validation Efficiency |
94% (61/65) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427I04Rik |
A |
G |
4: 123,754,509 (GRCm39) |
D141G |
possibly damaging |
Het |
A1bg |
T |
C |
15: 60,791,713 (GRCm39) |
E241G |
possibly damaging |
Het |
Abca13 |
G |
A |
11: 9,240,465 (GRCm39) |
W776* |
probably null |
Het |
Akr1b10 |
T |
A |
6: 34,369,309 (GRCm39) |
|
probably null |
Het |
Aopep |
A |
G |
13: 63,208,896 (GRCm39) |
T338A |
probably damaging |
Het |
Atf7 |
T |
C |
15: 102,465,908 (GRCm39) |
D84G |
probably benign |
Het |
AW209491 |
C |
T |
13: 14,812,365 (GRCm39) |
A406V |
probably benign |
Het |
Azi2 |
T |
A |
9: 117,876,487 (GRCm39) |
M1K |
probably null |
Het |
Boc |
T |
A |
16: 44,309,017 (GRCm39) |
M832L |
probably benign |
Het |
Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,034,225 (GRCm39) |
L1050P |
probably benign |
Het |
Celsr2 |
G |
T |
3: 108,308,561 (GRCm39) |
P1789T |
probably benign |
Het |
Crebbp |
G |
A |
16: 3,903,282 (GRCm39) |
R1986C |
probably damaging |
Het |
Crtam |
T |
A |
9: 40,901,477 (GRCm39) |
I150F |
probably damaging |
Het |
Crybg1 |
G |
T |
10: 43,873,534 (GRCm39) |
S1191R |
probably damaging |
Het |
D630045J12Rik |
T |
C |
6: 38,167,552 (GRCm39) |
T1017A |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,814,048 (GRCm39) |
E396G |
probably damaging |
Het |
Enpp5 |
A |
T |
17: 44,396,210 (GRCm39) |
Y374F |
probably benign |
Het |
Fzd4 |
G |
A |
7: 89,056,942 (GRCm39) |
A330T |
probably benign |
Het |
Gabra5 |
A |
G |
7: 57,157,740 (GRCm39) |
S25P |
probably benign |
Het |
Get1 |
T |
C |
16: 95,946,878 (GRCm39) |
|
probably benign |
Het |
Ggps1 |
T |
C |
13: 14,228,589 (GRCm39) |
Y198C |
probably damaging |
Het |
Gm3173 |
A |
C |
14: 15,728,458 (GRCm39) |
D39A |
probably damaging |
Het |
Grm2 |
T |
C |
9: 106,527,999 (GRCm39) |
D295G |
probably damaging |
Het |
H2-T13 |
T |
G |
17: 36,392,166 (GRCm39) |
E182A |
probably damaging |
Het |
Igfbp5 |
A |
G |
1: 72,902,363 (GRCm39) |
M208T |
possibly damaging |
Het |
Kif19b |
A |
T |
5: 140,455,434 (GRCm39) |
M347L |
probably damaging |
Het |
Loxhd1 |
A |
T |
18: 77,499,946 (GRCm39) |
D120V |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,413,883 (GRCm39) |
D1175G |
probably damaging |
Het |
Lrp1b |
C |
A |
2: 41,234,439 (GRCm39) |
D1171Y |
probably benign |
Het |
Lrrc9 |
A |
T |
12: 72,516,005 (GRCm39) |
I563F |
probably damaging |
Het |
Ltbp3 |
A |
T |
19: 5,803,708 (GRCm39) |
T798S |
probably benign |
Het |
Msantd4 |
T |
A |
9: 4,384,063 (GRCm39) |
V128E |
probably benign |
Het |
Mtf2 |
A |
G |
5: 108,229,003 (GRCm39) |
I69V |
possibly damaging |
Het |
Myh10 |
T |
A |
11: 68,699,688 (GRCm39) |
S1712T |
possibly damaging |
Het |
Mylk3 |
A |
G |
8: 86,091,442 (GRCm39) |
V121A |
possibly damaging |
Het |
Ndufaf4 |
A |
G |
4: 24,901,760 (GRCm39) |
N100D |
probably benign |
Het |
Notch2 |
T |
C |
3: 98,029,288 (GRCm39) |
F1017S |
probably damaging |
Het |
Or4a27 |
G |
T |
2: 88,559,294 (GRCm39) |
Y216* |
probably null |
Het |
Or4a80 |
A |
C |
2: 89,582,465 (GRCm39) |
S236A |
probably benign |
Het |
Or4c108 |
G |
T |
2: 88,803,376 (GRCm39) |
Y286* |
probably null |
Het |
P2ry2 |
T |
C |
7: 100,647,607 (GRCm39) |
T233A |
probably benign |
Het |
Paip1 |
T |
"TTA,TT" |
13: 119,593,671 (GRCm39) |
|
probably null |
Het |
Pak1 |
T |
C |
7: 97,503,670 (GRCm39) |
S2P |
probably damaging |
Het |
Pde8b |
A |
T |
13: 95,162,670 (GRCm39) |
D817E |
possibly damaging |
Het |
Pfdn2 |
C |
A |
1: 171,173,338 (GRCm39) |
|
probably benign |
Het |
Pramel28 |
A |
T |
4: 143,692,336 (GRCm39) |
C222S |
probably benign |
Het |
Raver1 |
A |
G |
9: 20,987,918 (GRCm39) |
L606P |
probably damaging |
Het |
Robo3 |
C |
T |
9: 37,333,829 (GRCm39) |
W668* |
probably null |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Rxfp2 |
A |
G |
5: 149,987,202 (GRCm39) |
N337S |
possibly damaging |
Het |
Samhd1 |
T |
C |
2: 156,962,474 (GRCm39) |
|
probably null |
Het |
Sardh |
A |
G |
2: 27,079,655 (GRCm39) |
V879A |
probably benign |
Het |
Slc4a4 |
A |
T |
5: 89,188,261 (GRCm39) |
|
probably benign |
Het |
Slc6a11 |
T |
C |
6: 114,207,012 (GRCm39) |
L332P |
probably damaging |
Het |
Tas2r135 |
T |
C |
6: 42,383,321 (GRCm39) |
Y287H |
probably damaging |
Het |
Tlr4 |
T |
A |
4: 66,759,103 (GRCm39) |
I632N |
probably damaging |
Het |
Tmem145 |
C |
T |
7: 25,008,270 (GRCm39) |
|
probably null |
Het |
Trmt61a |
C |
A |
12: 111,647,411 (GRCm39) |
F169L |
probably damaging |
Het |
Trp53tg5 |
T |
A |
2: 164,313,391 (GRCm39) |
I95L |
probably benign |
Het |
Vmn1r85 |
T |
C |
7: 12,818,616 (GRCm39) |
E176G |
probably benign |
Het |
Vmn2r75 |
T |
C |
7: 85,820,820 (GRCm39) |
D38G |
probably benign |
Het |
Vmn2r99 |
A |
G |
17: 19,598,210 (GRCm39) |
Y78C |
probably damaging |
Het |
Zfp964 |
G |
T |
8: 70,115,742 (GRCm39) |
S114I |
unknown |
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 |
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'- CTGGGCAATTGTTCTAACTGG -3'
(R):5'- ACGCTTTCACTAGAATCCCC -3'
Sequencing Primer
(F):5'- GGAACCATGTTTTTCTGCTTGG -3'
(R):5'- GCTTTCACTAGAATCCCCTTCTATTC -3'
|
Posted On |
2017-06-26 |