Incidental Mutation 'R6065:Cd300ld2'
| ID |
484014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd300ld2
|
| Ensembl Gene |
ENSMUSG00000089753 |
| Gene Name |
CD300 molecule like family member D2 |
| Synonyms |
Gm11709 |
| MMRRC Submission |
044229-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6065 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
114901161-114907019 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 114903428 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: T139I
|
| SMART Domains |
Protein: ENSMUSP00000102188
Gene: ENSMUSG00000089753
AA Change: T139I
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff1 |
T |
C |
5: 103,990,118 (GRCm39) |
S871P |
probably damaging |
Het |
| Ccdc150 |
T |
C |
1: 54,302,758 (GRCm39) |
I126T |
possibly damaging |
Het |
| Ccdc87 |
A |
T |
19: 4,891,268 (GRCm39) |
M587L |
probably benign |
Het |
| Chsy3 |
GT |
G |
18: 59,309,238 (GRCm39) |
163 |
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,404,628 (GRCm39) |
D2638G |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,230,614 (GRCm39) |
I171F |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,746,164 (GRCm39) |
D3983G |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 66,036,223 (GRCm39) |
S396P |
possibly damaging |
Het |
| Fbxw15 |
T |
A |
9: 109,397,246 (GRCm39) |
D18V |
probably damaging |
Het |
| Fcnb |
A |
C |
2: 27,969,922 (GRCm39) |
C106G |
probably damaging |
Het |
| Firrm |
A |
T |
1: 163,786,957 (GRCm39) |
L704Q |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,815,257 (GRCm39) |
M88T |
probably damaging |
Het |
| Gm3453 |
T |
C |
14: 5,978,233 (GRCm38) |
T57A |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,579,771 (GRCm39) |
D164G |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,646,081 (GRCm39) |
V706I |
probably benign |
Het |
| Kcnj12 |
C |
T |
11: 60,960,703 (GRCm39) |
L334F |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,602,985 (GRCm39) |
Y1057H |
possibly damaging |
Het |
| Mycbpap |
T |
C |
11: 94,399,013 (GRCm39) |
|
probably null |
Het |
| Myo18b |
A |
G |
5: 112,840,647 (GRCm39) |
L2382P |
probably benign |
Het |
| Ngef |
T |
A |
1: 87,405,370 (GRCm39) |
N680I |
probably damaging |
Het |
| Nop2 |
A |
G |
6: 125,121,528 (GRCm39) |
H770R |
probably benign |
Het |
| Pcdhgc3 |
A |
G |
18: 37,940,729 (GRCm39) |
T377A |
possibly damaging |
Het |
| Prl7b1 |
T |
C |
13: 27,788,529 (GRCm39) |
K109E |
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,351,166 (GRCm39) |
T553I |
probably damaging |
Het |
| Rab3d |
T |
C |
9: 21,821,815 (GRCm39) |
T209A |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,804,709 (GRCm39) |
|
probably null |
Het |
| Rspry1 |
T |
C |
8: 95,349,615 (GRCm39) |
M1T |
probably null |
Het |
| Sec13 |
G |
T |
6: 113,707,793 (GRCm39) |
P176T |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc4a7 |
C |
A |
14: 14,739,836 (GRCm38) |
T236K |
probably benign |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Syt2 |
A |
G |
1: 134,675,295 (GRCm39) |
N382S |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,113,416 (GRCm39) |
M345T |
possibly damaging |
Het |
| Ubr4 |
T |
G |
4: 139,148,549 (GRCm39) |
C1678G |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,600,220 (GRCm39) |
S188P |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,221,210 (GRCm39) |
S524G |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,379,056 (GRCm39) |
N233S |
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 |
|
|
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'- AACTGTGGATGGCAGAACTG -3'
(R):5'- GACAGCACACTCTGAAGGAATC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation