Incidental Mutation 'R6346:Cd244a'
| ID |
513939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd244a
|
| Ensembl Gene |
ENSMUSG00000004709 |
| Gene Name |
CD244 molecule A |
| Synonyms |
Cd244, Nmrk, C9.1, F730046O15Rik, 2B4 |
| MMRRC Submission |
044500-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6346 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171386287-171412884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 171404889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 247
(V247A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004829]
[ENSMUST00000194797]
|
| AlphaFold |
Q07763 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004829
AA Change: V247A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000004829
Gene: ENSMUSG00000004709
AA Change: V247A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
26 |
128 |
4.23e-2 |
SMART |
|
Blast:IG_like
|
146 |
222 |
8e-19 |
BLAST |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194170
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194797
AA Change: V247A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141898
Gene: ENSMUSG00000004709
AA Change: V247A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
26 |
128 |
4.23e-2 |
SMART |
|
Pfam:Ig_2
|
134 |
221 |
6.5e-5 |
PFAM |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195804
|
| Meta Mutation Damage Score |
0.2009 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered natural killer (NK) cell cytolysis. Mice homozygous for an ENU-generated allele exhibit reduced 'missing-self' targets recognition and elimination and increased clearance of B16 melanoma tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
C |
T |
7: 75,335,002 (GRCm39) |
S455L |
probably damaging |
Het |
| Apbb1ip |
T |
G |
2: 22,757,005 (GRCm39) |
|
probably null |
Het |
| Arhgap18 |
A |
T |
10: 26,722,061 (GRCm39) |
I11F |
probably damaging |
Het |
| Arl14epl |
A |
T |
18: 47,059,409 (GRCm39) |
N8I |
possibly damaging |
Het |
| Atp4a |
T |
A |
7: 30,414,781 (GRCm39) |
I190N |
possibly damaging |
Het |
| Bfar |
T |
C |
16: 13,519,997 (GRCm39) |
F285S |
probably damaging |
Het |
| Carf |
C |
T |
1: 60,180,699 (GRCm39) |
Q409* |
probably null |
Het |
| Ceacam12 |
T |
A |
7: 17,803,326 (GRCm39) |
I244K |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,228,698 (GRCm39) |
E2130G |
probably damaging |
Het |
| Cyp2b23 |
T |
G |
7: 26,381,150 (GRCm39) |
H69P |
probably damaging |
Het |
| Dixdc1 |
T |
C |
9: 50,595,253 (GRCm39) |
Q183R |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,553,573 (GRCm39) |
|
probably null |
Het |
| Fam20c |
T |
C |
5: 138,752,450 (GRCm39) |
F279S |
probably damaging |
Het |
| Hcn4 |
C |
T |
9: 58,766,327 (GRCm39) |
T665I |
unknown |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Kdm7a |
A |
T |
6: 39,128,145 (GRCm39) |
|
probably null |
Het |
| Ksr1 |
A |
C |
11: 78,910,490 (GRCm39) |
L814R |
possibly damaging |
Het |
| Lmnb1 |
A |
G |
18: 56,876,310 (GRCm39) |
I473V |
probably benign |
Het |
| Mllt3 |
T |
C |
4: 87,759,445 (GRCm39) |
K201R |
probably damaging |
Het |
| Myo1b |
C |
T |
1: 51,823,666 (GRCm39) |
C413Y |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,533,362 (GRCm39) |
N1185I |
probably benign |
Het |
| Nrde2 |
A |
G |
12: 100,098,565 (GRCm39) |
S701P |
probably benign |
Het |
| Ntn4 |
A |
T |
10: 93,480,723 (GRCm39) |
D112V |
probably damaging |
Het |
| Nup43 |
T |
A |
10: 7,550,826 (GRCm39) |
V232D |
probably damaging |
Het |
| Pcdha6 |
G |
A |
18: 37,101,113 (GRCm39) |
C102Y |
probably damaging |
Het |
| Pcdhgb8 |
T |
C |
18: 37,895,131 (GRCm39) |
L67P |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,358,016 (GRCm39) |
H836R |
probably damaging |
Het |
| Plekha1 |
T |
A |
7: 130,479,512 (GRCm39) |
I10N |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,540,084 (GRCm39) |
T161A |
possibly damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rsf1 |
A |
AGGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
C |
T |
13: 51,833,923 (GRCm39) |
H688Y |
probably damaging |
Het |
| Senp5 |
A |
G |
16: 31,802,665 (GRCm39) |
Y508H |
probably damaging |
Het |
| Shc3 |
T |
A |
13: 51,605,651 (GRCm39) |
T210S |
possibly damaging |
Het |
| Slc27a2 |
G |
A |
2: 126,429,800 (GRCm39) |
V467M |
probably damaging |
Het |
| Slc27a5 |
T |
A |
7: 12,724,899 (GRCm39) |
E487V |
possibly damaging |
Het |
| Snx1 |
T |
C |
9: 66,001,930 (GRCm39) |
T298A |
possibly damaging |
Het |
| Trir |
A |
G |
8: 85,753,643 (GRCm39) |
D39G |
possibly damaging |
Het |
| Ubd |
C |
T |
17: 37,506,242 (GRCm39) |
Q43* |
probably null |
Het |
| Ube2o |
T |
C |
11: 116,432,194 (GRCm39) |
E924G |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,659,578 (GRCm39) |
I1650V |
possibly damaging |
Het |
| Xirp2 |
C |
A |
2: 67,346,425 (GRCm39) |
R2889S |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,820,534 (GRCm39) |
E843G |
probably benign |
Het |
|
| Other mutations in Cd244a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Cd244a
|
APN |
1 |
171,401,938 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01014:Cd244a
|
APN |
1 |
171,401,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01689:Cd244a
|
APN |
1 |
171,410,462 (GRCm39) |
intron |
probably benign |
|
|
IGL02327:Cd244a
|
APN |
1 |
171,386,909 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0022:Cd244a
|
UTSW |
1 |
171,401,330 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0930:Cd244a
|
UTSW |
1 |
171,404,801 (GRCm39) |
splice site |
probably null |
|
|
R1055:Cd244a
|
UTSW |
1 |
171,404,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4587:Cd244a
|
UTSW |
1 |
171,405,447 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5517:Cd244a
|
UTSW |
1 |
171,405,542 (GRCm39) |
splice site |
probably benign |
|
|
R5929:Cd244a
|
UTSW |
1 |
171,386,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Cd244a
|
UTSW |
1 |
171,409,208 (GRCm39) |
splice site |
probably null |
|
|
R6502:Cd244a
|
UTSW |
1 |
171,405,447 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6612:Cd244a
|
UTSW |
1 |
171,401,672 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6701:Cd244a
|
UTSW |
1 |
171,401,723 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6973:Cd244a
|
UTSW |
1 |
171,401,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7655:Cd244a
|
UTSW |
1 |
171,404,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7656:Cd244a
|
UTSW |
1 |
171,404,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Cd244a
|
UTSW |
1 |
171,404,853 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7769:Cd244a
|
UTSW |
1 |
171,404,873 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8910:Cd244a
|
UTSW |
1 |
171,386,941 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8913:Cd244a
|
UTSW |
1 |
171,401,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8913:Cd244a
|
UTSW |
1 |
171,401,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9274:Cd244a
|
UTSW |
1 |
171,401,928 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF004:Cd244a
|
UTSW |
1 |
171,405,490 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1177:Cd244a
|
UTSW |
1 |
171,401,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCAGACAGGCCATTGAG -3'
(R):5'- GCCCACCATAGATAGTGTGAAC -3'
Sequencing Primer
(F):5'- CCATTGAGAGAGGACAGTGGGTTC -3'
(R):5'- CCACCATAGATAGTGTGAACAGGGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation