Incidental Mutation 'R6600:Cd320'
| ID |
525222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd320
|
| Ensembl Gene |
ENSMUSG00000002308 |
| Gene Name |
CD320 antigen |
| Synonyms |
425O18-1, NG29, D17Ertd716e, VLDL, 8D6 |
| MMRRC Submission |
044724-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R6600 (G1)
|
| Quality Score |
218.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34062065-34068748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34066591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 110
(C110R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002379]
[ENSMUST00000087559]
|
| AlphaFold |
Q9Z1P5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002379
AA Change: C124R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002379
Gene: ENSMUSG00000002308
AA Change: C124R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
LDLa
|
46 |
84 |
1.16e-14 |
SMART |
|
LDLa
|
123 |
161 |
4.24e-8 |
SMART |
|
transmembrane domain
|
207 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087559
AA Change: C110R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084839
Gene: ENSMUSG00000002308
AA Change: C110R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
LDLa
|
32 |
70 |
1.16e-14 |
SMART |
|
LDLa
|
109 |
147 |
4.24e-8 |
SMART |
|
transmembrane domain
|
193 |
215 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173418
|
| Meta Mutation Damage Score |
0.9747 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
PHENOTYPE: The homozygous mutant and heterozygous mice exhibited an increased mean retinal artery-to-vein ratio when compared with controls. Mice homozygous for a gene trap knock-out allele exhibit vitamin B12 deficiency in the central nervous system. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
ACGC |
ACGCGC |
5: 138,645,710 (GRCm39) |
|
probably null |
Het |
| Adam1b |
C |
T |
5: 121,639,530 (GRCm39) |
C505Y |
probably damaging |
Het |
| Adam24 |
C |
A |
8: 41,133,587 (GRCm39) |
H352N |
probably damaging |
Het |
| Bcl6b |
A |
T |
11: 70,119,954 (GRCm39) |
L11Q |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 143,025,702 (GRCm39) |
V165E |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,836,192 (GRCm39) |
N852S |
probably benign |
Het |
| Cdk2ap1rt |
A |
C |
11: 48,717,115 (GRCm39) |
V21G |
probably damaging |
Het |
| Clasrp |
T |
A |
7: 19,324,207 (GRCm39) |
K223* |
probably null |
Het |
| Col5a1 |
C |
A |
2: 27,887,583 (GRCm39) |
N951K |
unknown |
Het |
| Csn2 |
T |
C |
5: 87,842,491 (GRCm39) |
T171A |
probably benign |
Het |
| Dse |
A |
G |
10: 34,028,537 (GRCm39) |
I851T |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fbxo24 |
T |
A |
5: 137,611,135 (GRCm39) |
I413F |
probably damaging |
Het |
| Flywch2 |
C |
A |
17: 23,997,084 (GRCm39) |
G109V |
possibly damaging |
Het |
| Fnip1 |
A |
G |
11: 54,393,925 (GRCm39) |
D787G |
probably benign |
Het |
| Gramd1c |
T |
A |
16: 43,860,482 (GRCm39) |
R72* |
probably null |
Het |
| Hspd1 |
T |
C |
1: 55,117,777 (GRCm39) |
I494V |
probably benign |
Het |
| Limch1 |
T |
C |
5: 66,903,281 (GRCm39) |
V10A |
probably benign |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,569 (GRCm39) |
S658F |
probably damaging |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,666 (GRCm39) |
G1113S |
probably benign |
Het |
| Nlrc3 |
A |
G |
16: 3,782,938 (GRCm39) |
I157T |
probably benign |
Het |
| Or4a67 |
A |
G |
2: 88,598,101 (GRCm39) |
V186A |
probably benign |
Het |
| Pdlim5 |
T |
C |
3: 141,965,039 (GRCm39) |
R126G |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,824,259 (GRCm39) |
R311* |
probably null |
Het |
| Ptcd3 |
T |
C |
6: 71,860,530 (GRCm39) |
Y559C |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,786,543 (GRCm39) |
S852P |
probably damaging |
Het |
| Rps6kb2 |
A |
T |
19: 4,208,850 (GRCm39) |
M259K |
probably damaging |
Het |
| Sema4b |
T |
C |
7: 79,862,676 (GRCm39) |
L84P |
probably benign |
Het |
| Slf1 |
A |
C |
13: 77,231,655 (GRCm39) |
S575A |
probably benign |
Het |
| Tjap1 |
T |
C |
17: 46,570,924 (GRCm39) |
N173S |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,803,781 (GRCm39) |
M1K |
probably null |
Het |
| Ubr1 |
C |
A |
2: 120,745,880 (GRCm39) |
K851N |
probably benign |
Het |
| Zfp568 |
C |
A |
7: 29,721,948 (GRCm39) |
R298S |
possibly damaging |
Het |
|
| Other mutations in Cd320 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02002:Cd320
|
APN |
17 |
34,062,214 (GRCm39) |
unclassified |
probably benign |
|
|
R0107:Cd320
|
UTSW |
17 |
34,067,059 (GRCm39) |
missense |
probably benign |
|
|
R0722:Cd320
|
UTSW |
17 |
34,065,004 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1272:Cd320
|
UTSW |
17 |
34,067,138 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1515:Cd320
|
UTSW |
17 |
34,066,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4062:Cd320
|
UTSW |
17 |
34,066,491 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4663:Cd320
|
UTSW |
17 |
34,067,152 (GRCm39) |
missense |
probably null |
1.00 |
|
R4981:Cd320
|
UTSW |
17 |
34,066,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5516:Cd320
|
UTSW |
17 |
34,067,021 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6376:Cd320
|
UTSW |
17 |
34,066,491 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6536:Cd320
|
UTSW |
17 |
34,066,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7417:Cd320
|
UTSW |
17 |
34,066,530 (GRCm39) |
nonsense |
probably null |
|
|
R9668:Cd320
|
UTSW |
17 |
34,065,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGATTTAGAGCGGATTGGGTAAC -3'
(R):5'- GTCCTTAAATAACTGTCAGCCTTCC -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- TTAAATAACTGTCAGCCTTCCCCACC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation