Incidental Mutation 'R4018:Cd300ld2'
ID |
312030 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd300ld2
|
Ensembl Gene |
ENSMUSG00000089753 |
Gene Name |
CD300 molecule like family member D2 |
Synonyms |
Gm11709 |
MMRRC Submission |
040848-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4018 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
114901161-114907019 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to T
at 114903330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090120
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092463]
[ENSMUST00000106578]
|
AlphaFold |
A2A7W0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092463
|
SMART Domains |
Protein: ENSMUSP00000090120 Gene: ENSMUSG00000089753
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
IG
|
25 |
124 |
2.11e-2 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000106578
AA Change: P172T
|
SMART Domains |
Protein: ENSMUSP00000102188 Gene: ENSMUSG00000089753 AA Change: P172T
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.4%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aga |
A |
G |
8: 53,976,226 (GRCm39) |
K319R |
probably benign |
Het |
Brip1 |
G |
T |
11: 86,029,677 (GRCm39) |
T619K |
possibly damaging |
Het |
Cd300lg |
A |
G |
11: 101,932,420 (GRCm39) |
R2G |
probably damaging |
Het |
Celsr2 |
C |
T |
3: 108,302,281 (GRCm39) |
V2616I |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,460,517 (GRCm39) |
I1160V |
probably benign |
Het |
Edem3 |
C |
T |
1: 151,680,577 (GRCm39) |
|
probably benign |
Het |
Endou |
T |
A |
15: 97,616,818 (GRCm39) |
K235M |
probably damaging |
Het |
Gm5431 |
T |
A |
11: 48,779,995 (GRCm39) |
N309I |
probably damaging |
Het |
Il4 |
T |
A |
11: 53,504,806 (GRCm39) |
|
probably benign |
Het |
Iws1 |
C |
A |
18: 32,203,205 (GRCm39) |
S27* |
probably null |
Het |
Kdm5d |
T |
C |
Y: 910,441 (GRCm39) |
|
probably benign |
Het |
Ldb3 |
T |
C |
14: 34,274,128 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,738,438 (GRCm39) |
T284A |
probably benign |
Het |
Maml1 |
A |
T |
11: 50,156,611 (GRCm39) |
N521K |
probably damaging |
Het |
Mlxipl |
T |
C |
5: 135,161,526 (GRCm39) |
Y482H |
probably damaging |
Het |
Notch2 |
G |
T |
3: 98,011,881 (GRCm39) |
C633F |
probably damaging |
Het |
Oc90 |
T |
C |
15: 65,759,457 (GRCm39) |
D232G |
probably benign |
Het |
Or5b101 |
T |
C |
19: 13,005,189 (GRCm39) |
E168G |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,625,885 (GRCm39) |
Y1717C |
unknown |
Het |
Prkca |
T |
A |
11: 107,830,428 (GRCm39) |
I221F |
probably damaging |
Het |
Rab3c |
T |
A |
13: 110,220,728 (GRCm39) |
K144N |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,933,300 (GRCm39) |
N57I |
probably damaging |
Het |
Scyl3 |
A |
G |
1: 163,764,068 (GRCm39) |
T145A |
possibly damaging |
Het |
Septin4 |
G |
A |
11: 87,475,947 (GRCm39) |
R162Q |
probably damaging |
Het |
Slc25a39 |
A |
T |
11: 102,295,850 (GRCm39) |
L127H |
probably damaging |
Het |
Slc9a9 |
T |
C |
9: 94,567,216 (GRCm39) |
V95A |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,844,255 (GRCm39) |
I279V |
probably damaging |
Het |
Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,463,893 (GRCm39) |
I314V |
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 |
|
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 |
|
R8044:Cd300ld2
|
UTSW |
11 |
114,904,545 (GRCm39) |
nonsense |
probably null |
|
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'- TGCCAATGCTCTCCATGGTTG -3'
(R):5'- TCGAGCTCCTTAATTCCTAGGG -3'
Sequencing Primer
(F):5'- CAATGCTCTCCATGGTTGGTGTTG -3'
(R):5'- TTCCTAGGGAAAGAACTTTAGGCC -3'
|
Posted On |
2015-04-29 |