Incidental Mutation 'R6536:Cd320'
ID |
520439 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd320
|
Ensembl Gene |
ENSMUSG00000002308 |
Gene Name |
CD320 antigen |
Synonyms |
425O18-1, NG29, D17Ertd716e, VLDL, 8D6 |
MMRRC Submission |
044662-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R6536 (G1)
|
Quality Score |
205.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34062065-34068748 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34066477 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 72
(S72P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002379]
[ENSMUST00000087559]
|
AlphaFold |
Q9Z1P5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002379
AA Change: S86P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000002379 Gene: ENSMUSG00000002308 AA Change: S86P
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 benign
Transcript: ENSMUST00000087559
AA Change: S72P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000084839 Gene: ENSMUSG00000002308 AA Change: S72P
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (36/36) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
G |
T |
11: 48,910,550 (GRCm39) |
H628N |
probably benign |
Het |
Abcb1a |
T |
A |
5: 8,769,030 (GRCm39) |
F751I |
probably benign |
Het |
Adamts13 |
G |
A |
2: 26,865,762 (GRCm39) |
V106M |
probably damaging |
Het |
Add1 |
C |
A |
5: 34,758,780 (GRCm39) |
N31K |
possibly damaging |
Het |
Adgrf5 |
G |
T |
17: 43,733,552 (GRCm39) |
|
probably benign |
Het |
Akap11 |
T |
G |
14: 78,748,754 (GRCm39) |
D1211A |
possibly damaging |
Het |
Atp5f1c |
G |
A |
2: 10,085,127 (GRCm39) |
|
probably benign |
Het |
Clca4b |
C |
A |
3: 144,622,490 (GRCm39) |
W525L |
possibly damaging |
Het |
Cripto |
A |
T |
9: 110,773,257 (GRCm39) |
|
probably null |
Het |
Csmd3 |
G |
A |
15: 47,701,863 (GRCm39) |
T1740I |
probably damaging |
Het |
Dnah7c |
T |
G |
1: 46,697,450 (GRCm39) |
S2122A |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,726,027 (GRCm39) |
N583S |
probably damaging |
Het |
Fcsk |
A |
G |
8: 111,610,511 (GRCm39) |
V964A |
possibly damaging |
Het |
Gpd2 |
A |
T |
2: 57,235,367 (GRCm39) |
I366F |
probably benign |
Het |
Hsd17b2 |
G |
A |
8: 118,428,921 (GRCm39) |
V63M |
possibly damaging |
Het |
Hsdl2 |
A |
T |
4: 59,610,508 (GRCm39) |
|
probably null |
Het |
Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
Ifi44 |
A |
G |
3: 151,438,126 (GRCm39) |
V387A |
probably benign |
Het |
Kcnc4 |
T |
C |
3: 107,355,512 (GRCm39) |
D312G |
possibly damaging |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Klra6 |
C |
T |
6: 130,000,682 (GRCm39) |
V41I |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,393,937 (GRCm39) |
|
probably null |
Het |
Mpdz |
T |
C |
4: 81,301,654 (GRCm39) |
E257G |
probably damaging |
Het |
Or10v1 |
T |
C |
19: 11,873,760 (GRCm39) |
V125A |
probably benign |
Het |
Or4f14 |
T |
C |
2: 111,743,119 (GRCm39) |
D52G |
possibly damaging |
Het |
Papln |
A |
G |
12: 83,828,661 (GRCm39) |
Y789C |
probably damaging |
Het |
Pcdh15 |
T |
C |
10: 74,467,221 (GRCm39) |
L1680P |
probably damaging |
Het |
Pcdhac1 |
A |
G |
18: 37,223,367 (GRCm39) |
N60S |
probably benign |
Het |
Polr3g |
T |
C |
13: 81,826,335 (GRCm39) |
N162S |
unknown |
Het |
Pou3f3 |
A |
G |
1: 42,737,374 (GRCm39) |
I357V |
probably damaging |
Het |
Sycp2 |
A |
G |
2: 177,993,441 (GRCm39) |
S1235P |
probably damaging |
Het |
Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
Trim67 |
T |
C |
8: 125,521,081 (GRCm39) |
S148P |
possibly damaging |
Het |
Usp49 |
A |
T |
17: 47,990,617 (GRCm39) |
I348F |
probably damaging |
Het |
Wac |
A |
T |
18: 7,905,189 (GRCm39) |
|
probably null |
Het |
Zfp775 |
A |
G |
6: 48,596,543 (GRCm39) |
K139R |
probably 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 |
R6600:Cd320
|
UTSW |
17 |
34,066,591 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CTGGAGTCAAGACAGTCTGG -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- AAGACAGTCTGGGTGGCCATC -3'
|
Posted On |
2018-06-06 |