Incidental Mutation 'R8044:Cd300ld2'
| ID |
618675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd300ld2
|
| Ensembl Gene |
ENSMUSG00000089753 |
| Gene Name |
CD300 molecule like family member D2 |
| Synonyms |
Gm11709 |
| MMRRC Submission |
067481-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
114901161-114907019 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 114904545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 107
(W107*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092463]
[ENSMUST00000106578]
|
| AlphaFold |
A2A7W0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000092463
AA Change: W107*
|
| SMART Domains |
Protein: ENSMUSP00000090120
Gene: ENSMUSG00000089753
AA Change: W107*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
25 |
124 |
2.11e-2 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106578
AA Change: W107*
|
| SMART Domains |
Protein: ENSMUSP00000102188
Gene: ENSMUSG00000089753
AA Change: W107*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
25 |
124 |
2.11e-2 |
SMART |
|
low complexity region
|
131 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
222 |
N/A |
INTRINSIC |
|
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524J17Rik |
T |
C |
8: 86,138,747 (GRCm39) |
E114G |
possibly damaging |
Het |
| Abcc4 |
ACCAGCCC |
ACC |
14: 118,852,682 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Asb7 |
T |
C |
7: 66,309,511 (GRCm39) |
N235S |
probably benign |
Het |
| Atrn |
A |
T |
2: 130,777,449 (GRCm39) |
N166I |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,683,593 (GRCm39) |
E806D |
probably damaging |
Het |
| Dnajb12 |
A |
G |
10: 59,732,172 (GRCm39) |
K337R |
possibly damaging |
Het |
| Dock5 |
T |
C |
14: 68,062,141 (GRCm39) |
D409G |
probably damaging |
Het |
| Efhb |
G |
A |
17: 53,706,143 (GRCm39) |
S798L |
probably benign |
Het |
| Gpd1 |
T |
C |
15: 99,621,083 (GRCm39) |
F322S |
probably damaging |
Het |
| Gria4 |
A |
G |
9: 4,456,216 (GRCm39) |
Y695H |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,711,421 (GRCm39) |
F289S |
probably damaging |
Het |
| Jakmip1 |
A |
G |
5: 37,311,988 (GRCm39) |
E72G |
unknown |
Het |
| Mettl14 |
T |
C |
3: 123,163,309 (GRCm39) |
N366S |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,274,313 (GRCm39) |
T730A |
probably damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,829 (GRCm39) |
Y288C |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,237,261 (GRCm39) |
L575P |
probably damaging |
Het |
| Piwil2 |
T |
C |
14: 70,628,887 (GRCm39) |
S710G |
possibly damaging |
Het |
| Pramel32 |
T |
G |
4: 88,548,212 (GRCm39) |
E64D |
possibly damaging |
Het |
| Ptpra |
A |
G |
2: 130,386,881 (GRCm39) |
K627E |
possibly damaging |
Het |
| Rab24 |
A |
G |
13: 55,469,345 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
C |
A |
19: 53,806,402 (GRCm39) |
A494D |
probably benign |
Het |
| Rpe65 |
T |
C |
3: 159,320,342 (GRCm39) |
F300L |
probably benign |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tert |
A |
G |
13: 73,783,568 (GRCm39) |
E590G |
probably damaging |
Het |
| Tlr4 |
C |
A |
4: 66,746,084 (GRCm39) |
L6I |
probably benign |
Het |
| Trim3 |
G |
A |
7: 105,262,465 (GRCm39) |
|
silent |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Ube3a |
A |
T |
7: 58,926,320 (GRCm39) |
H387L |
possibly damaging |
Het |
| Ugt1a7c |
G |
A |
1: 88,023,278 (GRCm39) |
V146M |
probably damaging |
Het |
| Upf2 |
T |
C |
2: 6,034,249 (GRCm39) |
I974T |
unknown |
Het |
| Vmn1r38 |
A |
T |
6: 66,753,516 (GRCm39) |
I200N |
probably benign |
Het |
| Wnt5b |
A |
G |
6: 119,423,319 (GRCm39) |
V115A |
probably damaging |
Het |
| Xpo7 |
C |
A |
14: 70,922,366 (GRCm39) |
R574L |
probably benign |
Het |
|
| Other mutations in Cd300ld2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Cd300ld2
|
APN |
11 |
114,903,123 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01450:Cd300ld2
|
APN |
11 |
114,903,369 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01452:Cd300ld2
|
APN |
11 |
114,903,428 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02086:Cd300ld2
|
APN |
11 |
114,903,384 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02111:Cd300ld2
|
APN |
11 |
114,903,219 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02505:Cd300ld2
|
APN |
11 |
114,904,513 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02517:Cd300ld2
|
APN |
11 |
114,901,249 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02836:Cd300ld2
|
APN |
11 |
114,904,576 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03081:Cd300ld2
|
APN |
11 |
114,903,368 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4486001:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
R0579:Cd300ld2
|
UTSW |
11 |
114,903,125 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1065:Cd300ld2
|
UTSW |
11 |
114,904,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1393:Cd300ld2
|
UTSW |
11 |
114,903,404 (GRCm39) |
unclassified |
probably benign |
|
|
R1481:Cd300ld2
|
UTSW |
11 |
114,903,459 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1583:Cd300ld2
|
UTSW |
11 |
114,904,603 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1755:Cd300ld2
|
UTSW |
11 |
114,904,601 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1865:Cd300ld2
|
UTSW |
11 |
114,903,444 (GRCm39) |
unclassified |
probably benign |
|
|
R4018:Cd300ld2
|
UTSW |
11 |
114,903,330 (GRCm39) |
unclassified |
probably benign |
|
|
R5516:Cd300ld2
|
UTSW |
11 |
114,903,270 (GRCm39) |
unclassified |
probably benign |
|
|
R6065:Cd300ld2
|
UTSW |
11 |
114,903,428 (GRCm39) |
unclassified |
probably benign |
|
|
R6927:Cd300ld2
|
UTSW |
11 |
114,904,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7874:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
R7883:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
R8263:Cd300ld2
|
UTSW |
11 |
114,903,192 (GRCm39) |
missense |
unknown |
|
|
R8306:Cd300ld2
|
UTSW |
11 |
114,904,648 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8424:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
R8808:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
R8847:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
R9090:Cd300ld2
|
UTSW |
11 |
114,904,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9176:Cd300ld2
|
UTSW |
11 |
114,904,772 (GRCm39) |
nonsense |
probably null |
|
|
R9271:Cd300ld2
|
UTSW |
11 |
114,904,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Cd300ld2
|
UTSW |
11 |
114,901,249 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9564:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
R9720:Cd300ld2
|
UTSW |
11 |
114,903,118 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9727:Cd300ld2
|
UTSW |
11 |
114,903,257 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATACAAGGAGACAAGGGTCCCC -3'
(R):5'- GTGTAGATATGACTCAGGCTGG -3'
Sequencing Primer
(F):5'- GGGTCCCCCACCTTACC -3'
(R):5'- TATGACTCAGGCTGGAAGGATTAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation