Incidental Mutation 'R1065:Cd300ld2'
| ID |
85972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd300ld2
|
| Ensembl Gene |
ENSMUSG00000089753 |
| Gene Name |
CD300 molecule like family member D2 |
| Synonyms |
Gm11709 |
| MMRRC Submission |
039151-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1065 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
114901161-114907019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114904586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 94
(T94A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092463]
[ENSMUST00000106578]
|
| AlphaFold |
A2A7W0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092463
AA Change: T94A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090120
Gene: ENSMUSG00000089753
AA Change: T94A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
25 |
124 |
2.11e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106578
AA Change: T94A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102188
Gene: ENSMUSG00000089753
AA Change: T94A
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdc42bpg |
G |
A |
19: 6,372,856 (GRCm39) |
S1515N |
probably damaging |
Het |
| Ckb |
T |
C |
12: 111,637,681 (GRCm39) |
E150G |
probably benign |
Het |
| Clec2m |
A |
G |
6: 129,300,013 (GRCm39) |
I155T |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,204,327 (GRCm39) |
M785L |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,758,982 (GRCm39) |
N2075D |
probably damaging |
Het |
| Commd7 |
G |
C |
2: 153,461,447 (GRCm39) |
|
probably benign |
Het |
| Corin |
G |
A |
5: 72,458,993 (GRCm39) |
R927* |
probably null |
Het |
| Dync2i1 |
C |
T |
12: 116,219,696 (GRCm39) |
R82H |
probably damaging |
Het |
| Ift122 |
A |
T |
6: 115,852,286 (GRCm39) |
|
probably null |
Het |
| Il1b |
G |
A |
2: 129,209,927 (GRCm39) |
T83I |
probably benign |
Het |
| Ints4 |
T |
C |
7: 97,157,099 (GRCm39) |
|
probably null |
Het |
| Msh6 |
T |
G |
17: 88,295,891 (GRCm39) |
|
probably benign |
Het |
| Mtmr3 |
T |
C |
11: 4,442,859 (GRCm39) |
K392E |
probably damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,888 (GRCm39) |
H264R |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,422,458 (GRCm39) |
|
probably benign |
Het |
| Pde6h |
A |
C |
6: 136,936,368 (GRCm39) |
K37T |
probably damaging |
Het |
| Plat |
C |
A |
8: 23,266,879 (GRCm39) |
D290E |
probably damaging |
Het |
| Polk |
A |
C |
13: 96,644,760 (GRCm39) |
L122R |
probably damaging |
Het |
| Ppp1r3g |
T |
A |
13: 36,153,418 (GRCm39) |
D279E |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,535,651 (GRCm39) |
E370G |
possibly damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,292,478 (GRCm39) |
Y187C |
probably benign |
Het |
| Rps6ka2 |
C |
T |
17: 7,549,157 (GRCm39) |
|
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,012,462 (GRCm39) |
S41P |
possibly damaging |
Het |
| Smarca5 |
A |
T |
8: 81,431,343 (GRCm39) |
L958Q |
probably damaging |
Het |
| Snx9 |
T |
C |
17: 5,952,636 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
A |
T |
2: 26,830,050 (GRCm39) |
N72I |
probably damaging |
Het |
| Strc |
C |
A |
2: 121,197,132 (GRCm39) |
D1532Y |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Svil |
T |
G |
18: 5,063,777 (GRCm39) |
|
probably benign |
Het |
| Traf3ip1 |
T |
A |
1: 91,428,506 (GRCm39) |
D122E |
unknown |
Het |
| Vmn2r7 |
A |
T |
3: 64,614,559 (GRCm39) |
D509E |
possibly damaging |
Het |
| Vps52 |
C |
A |
17: 34,180,213 (GRCm39) |
Q306K |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp418 |
C |
A |
7: 7,184,561 (GRCm39) |
Q175K |
probably benign |
Het |
| Zxdc |
T |
C |
6: 90,355,885 (GRCm39) |
S465P |
probably damaging |
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 |
|
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 |
|
|
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'- ACCCTCTTTCTTGGCAGGACAAATAC -3'
(R):5'- TTCAGCTCATGAACTCTACTTGGCAC -3'
Sequencing Primer
(F):5'- CTTTCTTGGCAGGACAAATACAGTAG -3'
(R):5'- ACTTGGCACAGTAGAGTTTCC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation