Incidental Mutation 'R6973:Cd244a'
| ID |
543692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd244a
|
| Ensembl Gene |
ENSMUSG00000004709 |
| Gene Name |
CD244 molecule A |
| Synonyms |
Cd244, Nmrk, C9.1, F730046O15Rik, 2B4 |
| MMRRC Submission |
045083-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6973 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171386287-171412884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 171401775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 167
(Y167C)
|
| 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: Y167C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004829
Gene: ENSMUSG00000004709
AA Change: Y167C
| 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 |
probably damaging
Transcript: ENSMUST00000194797
AA Change: Y167C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141898
Gene: ENSMUSG00000004709
AA Change: Y167C
| 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 |
|
| Meta Mutation Damage Score |
0.2615 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (37/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
C |
4: 144,182,760 (GRCm39) |
Y236C |
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,331,866 (GRCm39) |
C1461* |
probably null |
Het |
| Akap9 |
A |
G |
5: 4,096,699 (GRCm39) |
N2525D |
possibly damaging |
Het |
| Atp6v1c1 |
A |
G |
15: 38,690,794 (GRCm39) |
N315S |
probably damaging |
Het |
| B3gnt7 |
G |
A |
1: 86,233,109 (GRCm39) |
M1I |
probably null |
Het |
| C2cd4d |
G |
T |
3: 94,271,130 (GRCm39) |
R132L |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,099,825 (GRCm39) |
N1666D |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,386,648 (GRCm39) |
I1539T |
possibly damaging |
Het |
| Dcdc2a |
A |
T |
13: 25,304,372 (GRCm39) |
|
probably benign |
Het |
| Dgka |
C |
T |
10: 128,565,463 (GRCm39) |
|
probably null |
Het |
| Ephb4 |
T |
G |
5: 137,368,066 (GRCm39) |
V737G |
probably damaging |
Het |
| Etv2 |
T |
C |
7: 30,334,167 (GRCm39) |
N189D |
probably benign |
Het |
| Exoc4 |
G |
T |
6: 33,556,965 (GRCm39) |
C490F |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gpbp1l1 |
A |
G |
4: 116,438,479 (GRCm39) |
M192V |
possibly damaging |
Het |
| Ireb2 |
A |
G |
9: 54,789,671 (GRCm39) |
K115R |
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,396,223 (GRCm39) |
E208G |
possibly damaging |
Het |
| Nfic |
C |
A |
10: 81,256,191 (GRCm39) |
A158S |
probably benign |
Het |
| Nos3 |
A |
T |
5: 24,585,241 (GRCm39) |
I798L |
probably benign |
Het |
| Ntrk1 |
A |
T |
3: 87,691,288 (GRCm39) |
L292Q |
probably damaging |
Het |
| Or52h7 |
G |
A |
7: 104,214,183 (GRCm39) |
V252I |
probably benign |
Het |
| Or8u3-ps |
C |
T |
2: 85,953,198 (GRCm39) |
T310I |
probably benign |
Het |
| Pcdhb2 |
G |
C |
18: 37,429,416 (GRCm39) |
R463P |
probably benign |
Het |
| Pcdhgb6 |
A |
T |
18: 37,875,526 (GRCm39) |
D78V |
possibly damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Prelid3b |
C |
A |
2: 174,311,155 (GRCm39) |
W59L |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,182,967 (GRCm39) |
S405R |
probably damaging |
Het |
| Rp1 |
G |
A |
1: 4,422,217 (GRCm39) |
Q248* |
probably null |
Het |
| Rspo4 |
T |
A |
2: 151,709,735 (GRCm39) |
C47S |
probably damaging |
Het |
| Ryr3 |
C |
A |
2: 112,596,656 (GRCm39) |
M2499I |
probably damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,380 (GRCm39) |
Y946H |
probably damaging |
Het |
| Spata31d1e |
A |
G |
13: 59,890,521 (GRCm39) |
I433T |
probably benign |
Het |
| Tcn2 |
T |
C |
11: 3,867,649 (GRCm39) |
*431W |
probably null |
Het |
| Tert |
A |
G |
13: 73,776,107 (GRCm39) |
E286G |
probably benign |
Het |
| Tnni3 |
A |
G |
7: 4,521,416 (GRCm39) |
I196T |
possibly damaging |
Het |
| Unc79 |
T |
C |
12: 102,964,699 (GRCm39) |
I49T |
possibly damaging |
Het |
| Zfp687 |
A |
G |
3: 94,916,688 (GRCm39) |
S813P |
possibly damaging |
Het |
| Znfx1 |
T |
A |
2: 166,898,681 (GRCm39) |
H81L |
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 |
|
|
R6346:Cd244a
|
UTSW |
1 |
171,404,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GTCCCTCTGATTCCTGTAGGAC -3'
(R):5'- CCTGGGTCTCATGTGAATCTGG -3'
Sequencing Primer
(F):5'- CTGTAGGACTTGCATTTCCAGAAC -3'
(R):5'- CTGCTGTGGGCCAAAGTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation