Incidental Mutation 'R7697:Ildr2'
ID |
593689 |
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 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.546)
|
Stock # |
R7697 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
166081708-166144392 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 166122300 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 248
(Q248K)
|
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 benign
Transcript: ENSMUST00000111416
AA Change: Q248K
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000107047 Gene: ENSMUSG00000040612 AA Change: Q248K
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 |
possibly damaging
Transcript: ENSMUST00000192638
AA Change: Q229K
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000142311 Gene: ENSMUSG00000040612 AA Change: Q229K
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: Q248K
|
SMART Domains |
Protein: ENSMUSP00000142152 Gene: ENSMUSG00000040612 AA Change: Q248K
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 benign
Transcript: ENSMUST00000195557
AA Change: Q248K
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000142240 Gene: ENSMUSG00000040612 AA Change: Q248K
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd4 |
T |
C |
14: 54,500,216 (GRCm39) |
V87A |
probably damaging |
Het |
Acadsb |
A |
G |
7: 131,031,698 (GRCm39) |
E178G |
probably damaging |
Het |
Acoxl |
A |
G |
2: 127,820,702 (GRCm39) |
T365A |
probably benign |
Het |
Adcy8 |
T |
G |
15: 64,618,850 (GRCm39) |
I768L |
probably benign |
Het |
Bloc1s4 |
A |
G |
5: 36,905,959 (GRCm39) |
S11P |
probably benign |
Het |
Brinp2 |
T |
C |
1: 158,095,496 (GRCm39) |
I122V |
probably benign |
Het |
Brwd1 |
T |
C |
16: 95,847,601 (GRCm39) |
D673G |
probably benign |
Het |
Cbx8 |
C |
A |
11: 118,931,637 (GRCm39) |
E14* |
probably null |
Het |
Cep295 |
T |
A |
9: 15,266,006 (GRCm39) |
M49L |
probably benign |
Het |
Cfap157 |
T |
C |
2: 32,669,765 (GRCm39) |
N273D |
probably benign |
Het |
Cntn3 |
A |
T |
6: 102,185,127 (GRCm39) |
V663E |
probably damaging |
Het |
Cntn3 |
C |
T |
6: 102,185,128 (GRCm39) |
V663M |
probably damaging |
Het |
Cspg5 |
G |
C |
9: 110,085,294 (GRCm39) |
R488S |
probably damaging |
Het |
Csrnp2 |
A |
T |
15: 100,385,953 (GRCm39) |
M95K |
probably damaging |
Het |
Dnah3 |
A |
T |
7: 119,566,657 (GRCm39) |
V136E |
|
Het |
Drg2 |
T |
A |
11: 60,353,003 (GRCm39) |
I212N |
probably damaging |
Het |
Egfem1 |
T |
C |
3: 29,744,346 (GRCm39) |
|
probably null |
Het |
Eif1ad18 |
T |
C |
12: 88,050,749 (GRCm39) |
Y95H |
probably damaging |
Het |
Enpep |
T |
A |
3: 129,102,750 (GRCm39) |
D402V |
probably damaging |
Het |
Fanci |
T |
A |
7: 79,056,040 (GRCm39) |
|
probably null |
Het |
Fgd6 |
T |
A |
10: 93,881,306 (GRCm39) |
V720D |
probably damaging |
Het |
Fhod1 |
T |
A |
8: 106,074,563 (GRCm39) |
|
probably benign |
Het |
Flnc |
T |
A |
6: 29,456,516 (GRCm39) |
I2238N |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,488,892 (GRCm39) |
E79G |
probably damaging |
Het |
Gabrr2 |
A |
T |
4: 33,071,358 (GRCm39) |
Y66F |
probably benign |
Het |
Ggnbp1 |
T |
G |
17: 27,249,736 (GRCm39) |
I192S |
probably benign |
Het |
Gm32742 |
C |
T |
9: 51,058,901 (GRCm39) |
V1039I |
probably benign |
Het |
H2-D1 |
T |
C |
17: 35,482,121 (GRCm39) |
L11P |
probably damaging |
Het |
Hsd17b4 |
A |
G |
18: 50,263,208 (GRCm39) |
Y25C |
probably damaging |
Het |
Klrb1c |
T |
C |
6: 128,757,273 (GRCm39) |
H264R |
probably benign |
Het |
Lrp11 |
C |
T |
10: 7,479,983 (GRCm39) |
A346V |
probably benign |
Het |
Mast4 |
G |
A |
13: 102,875,711 (GRCm39) |
P1319L |
probably damaging |
Het |
Mcm9 |
A |
C |
10: 53,491,990 (GRCm39) |
F392V |
|
Het |
Med12l |
C |
T |
3: 59,148,078 (GRCm39) |
A965V |
probably damaging |
Het |
Mrps7 |
A |
G |
11: 115,495,701 (GRCm39) |
T80A |
probably benign |
Het |
Mtor |
T |
A |
4: 148,624,765 (GRCm39) |
Y2125* |
probably null |
Het |
Myoc |
A |
G |
1: 162,475,049 (GRCm39) |
E200G |
probably damaging |
Het |
Natd1 |
A |
G |
11: 60,797,808 (GRCm39) |
V39A |
probably damaging |
Het |
Notch4 |
C |
T |
17: 34,789,159 (GRCm39) |
T486I |
probably damaging |
Het |
Or10am5 |
T |
C |
7: 6,517,645 (GRCm39) |
Y261C |
probably damaging |
Het |
Or10n1 |
A |
G |
9: 39,525,157 (GRCm39) |
Q98R |
probably damaging |
Het |
Or2c1 |
G |
A |
16: 3,657,430 (GRCm39) |
V198M |
probably damaging |
Het |
Or5aq6 |
T |
A |
2: 86,923,162 (GRCm39) |
H193L |
probably benign |
Het |
Pdss2 |
T |
A |
10: 43,221,544 (GRCm39) |
I152N |
probably damaging |
Het |
Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Plec |
T |
C |
15: 76,065,885 (GRCm39) |
E1395G |
unknown |
Het |
Polr2b |
T |
C |
5: 77,468,059 (GRCm39) |
Y120H |
probably damaging |
Het |
Pyroxd2 |
C |
T |
19: 42,735,805 (GRCm39) |
C99Y |
probably benign |
Het |
Rela |
T |
C |
19: 5,691,630 (GRCm39) |
V268A |
probably damaging |
Het |
Rgs3 |
C |
T |
4: 62,575,379 (GRCm39) |
P589S |
probably benign |
Het |
Rtn1 |
A |
G |
12: 72,455,151 (GRCm39) |
S59P |
probably benign |
Het |
Siae |
A |
G |
9: 37,544,950 (GRCm39) |
Y315C |
probably damaging |
Het |
Susd3 |
C |
A |
13: 49,391,074 (GRCm39) |
W147L |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,702,047 (GRCm39) |
|
probably null |
Het |
Ubr3 |
A |
G |
2: 69,728,030 (GRCm39) |
Y131C |
probably damaging |
Het |
Unc80 |
C |
T |
1: 66,677,104 (GRCm39) |
P2011L |
possibly damaging |
Het |
Usp9y |
T |
C |
Y: 1,316,990 (GRCm39) |
E1853G |
possibly damaging |
Het |
Wls |
C |
A |
3: 159,616,955 (GRCm39) |
H331Q |
probably benign |
Het |
Xkr6 |
C |
A |
14: 63,844,628 (GRCm39) |
P217Q |
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 |
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'- ATGGATGCCGTGTCCTGAAAG -3'
(R):5'- AGGAATGCATGACACGCGTG -3'
Sequencing Primer
(F):5'- TGTCCTGAAAGGGGGCTAC -3'
(R):5'- TGACACGCGTGGATAAACC -3'
|
Posted On |
2019-11-12 |