Incidental Mutation 'R4018:Cd300lg'
| ID |
312027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd300lg
|
| Ensembl Gene |
ENSMUSG00000017309 |
| Gene Name |
CD300 molecule like family member G |
| Synonyms |
nepmucin, D11Ertd736e, Clm9, 2310016B05Rik |
| MMRRC Submission |
040848-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4018 (G1)
|
| Quality Score |
143 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101932337-101946443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101932420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 2
(R2G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017453]
[ENSMUST00000107163]
[ENSMUST00000107164]
[ENSMUST00000123895]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017453
AA Change: R2G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000017453
Gene: ENSMUSG00000017309
AA Change: R2G
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
22 |
124 |
1.82e-6 |
SMART |
|
low complexity region
|
142 |
155 |
N/A |
INTRINSIC |
|
transmembrane domain
|
163 |
185 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107163
AA Change: R2G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102781
Gene: ENSMUSG00000017309
AA Change: R2G
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
22 |
124 |
1.82e-6 |
SMART |
|
internal_repeat_1
|
154 |
188 |
2.12e-12 |
PROSPERO |
|
internal_repeat_1
|
180 |
213 |
2.12e-12 |
PROSPERO |
|
low complexity region
|
226 |
239 |
N/A |
INTRINSIC |
|
transmembrane domain
|
247 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107164
AA Change: R2G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102782
Gene: ENSMUSG00000017309
AA Change: R2G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
22 |
124 |
1.82e-6 |
SMART |
|
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
|
transmembrane domain
|
291 |
313 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123895
AA Change: R2G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120921
Gene: ENSMUSG00000017309
AA Change: R2G
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
22 |
124 |
1.82e-6 |
SMART |
|
low complexity region
|
186 |
199 |
N/A |
INTRINSIC |
|
transmembrane domain
|
207 |
229 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the CD300 (see MIM 606786)-like (CD300L) family, such as CD300LG, are widely expressed on hematopoietic cells. All CD300L proteins are type I cell surface glycoproteins that contain a single immunoglobulin (Ig) V-like domain (Takatsu et al., 2006 [PubMed 16876123]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Phenotypic analysis of mice homozygous for a targeted allele indicates that this mutation shows no notable phenotype in any parameter tested. [provided by MGI curators]
|
| 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 |
| Cd300ld2 |
G |
T |
11: 114,903,330 (GRCm39) |
|
probably benign |
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 Cd300lg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01125:Cd300lg
|
APN |
11 |
101,945,047 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01655:Cd300lg
|
APN |
11 |
101,937,901 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0129:Cd300lg
|
UTSW |
11 |
101,944,918 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0427:Cd300lg
|
UTSW |
11 |
101,933,852 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1401:Cd300lg
|
UTSW |
11 |
101,944,981 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1533:Cd300lg
|
UTSW |
11 |
101,934,047 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1809:Cd300lg
|
UTSW |
11 |
101,933,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1848:Cd300lg
|
UTSW |
11 |
101,937,032 (GRCm39) |
splice site |
probably benign |
|
|
R1863:Cd300lg
|
UTSW |
11 |
101,932,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1918:Cd300lg
|
UTSW |
11 |
101,944,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4591:Cd300lg
|
UTSW |
11 |
101,937,006 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4758:Cd300lg
|
UTSW |
11 |
101,944,417 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6211:Cd300lg
|
UTSW |
11 |
101,944,995 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6425:Cd300lg
|
UTSW |
11 |
101,937,749 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6470:Cd300lg
|
UTSW |
11 |
101,941,331 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7025:Cd300lg
|
UTSW |
11 |
101,933,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7312:Cd300lg
|
UTSW |
11 |
101,937,767 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7522:Cd300lg
|
UTSW |
11 |
101,945,028 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8074:Cd300lg
|
UTSW |
11 |
101,932,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8176:Cd300lg
|
UTSW |
11 |
101,932,390 (GRCm39) |
start gained |
probably benign |
|
|
R8922:Cd300lg
|
UTSW |
11 |
101,945,028 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9026:Cd300lg
|
UTSW |
11 |
101,944,998 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9273:Cd300lg
|
UTSW |
11 |
101,939,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9471:Cd300lg
|
UTSW |
11 |
101,944,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACCTGTGGTAACTGGCAC -3'
(R):5'- AGAAAGACCCTGGGCTCAAG -3'
Sequencing Primer
(F):5'- GGTAACTGGCACTGGGTAG -3'
(R):5'- AAGTGCTGAGCTCAGGGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation