Incidental Mutation 'R4587:Cd244a'
| ID |
344155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd244a
|
| Ensembl Gene |
ENSMUSG00000004709 |
| Gene Name |
CD244 molecule A |
| Synonyms |
Cd244, Nmrk, C9.1, F730046O15Rik, 2B4 |
| MMRRC Submission |
042006-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R4587 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171386287-171412884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 171405447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 277
(D277E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004829]
[ENSMUST00000194797]
|
| AlphaFold |
Q07763 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004829
AA Change: D277E
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000004829
Gene: ENSMUSG00000004709
AA Change: D277E
| 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 benign
Transcript: ENSMUST00000194797
AA Change: D277E
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000141898
Gene: ENSMUSG00000004709
AA Change: D277E
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
100% (47/47) |
| 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 |
|---|
| Abhd16a |
T |
C |
17: 35,320,063 (GRCm39) |
|
probably null |
Het |
| Adsl |
T |
C |
15: 80,851,968 (GRCm39) |
|
probably null |
Het |
| Arhgap32 |
T |
C |
9: 32,172,241 (GRCm39) |
S1674P |
probably benign |
Het |
| Ceacam23 |
C |
T |
7: 17,620,149 (GRCm39) |
L18F |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,751,932 (GRCm39) |
Y401H |
probably damaging |
Het |
| Chd9 |
G |
T |
8: 91,763,134 (GRCm39) |
V2320F |
possibly damaging |
Het |
| Chrd |
A |
G |
16: 20,557,325 (GRCm39) |
E670G |
possibly damaging |
Het |
| Ckap2 |
A |
G |
8: 22,666,992 (GRCm39) |
S290P |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,751,680 (GRCm39) |
|
probably null |
Het |
| Col15a1 |
C |
T |
4: 47,257,184 (GRCm39) |
T325M |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,230,636 (GRCm39) |
I971T |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,304,745 (GRCm39) |
F1652S |
probably damaging |
Het |
| Dok6 |
T |
C |
18: 89,319,320 (GRCm39) |
Q312R |
probably benign |
Het |
| Glis1 |
C |
A |
4: 107,484,740 (GRCm39) |
H600N |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,309,704 (GRCm39) |
D648G |
probably benign |
Het |
| Kif22 |
A |
T |
7: 126,632,052 (GRCm39) |
|
probably null |
Het |
| Lmtk3 |
A |
G |
7: 45,443,504 (GRCm39) |
D729G |
possibly damaging |
Het |
| Mapk8ip3 |
G |
A |
17: 25,123,761 (GRCm39) |
P587L |
probably damaging |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,960,800 (GRCm39) |
K1038E |
unknown |
Het |
| Nf1 |
T |
A |
11: 79,426,863 (GRCm39) |
|
probably null |
Het |
| Nom1 |
T |
C |
5: 29,656,163 (GRCm39) |
S843P |
possibly damaging |
Het |
| Or1e33 |
A |
G |
11: 73,738,045 (GRCm39) |
I302T |
probably benign |
Het |
| Pex14 |
A |
G |
4: 149,048,021 (GRCm39) |
|
probably benign |
Het |
| Ptcd1 |
T |
C |
5: 145,091,531 (GRCm39) |
T523A |
possibly damaging |
Het |
| Rasip1 |
T |
C |
7: 45,282,159 (GRCm39) |
V554A |
possibly damaging |
Het |
| Ric3 |
A |
T |
7: 108,653,570 (GRCm39) |
|
probably null |
Het |
| Skint4 |
G |
A |
4: 111,944,221 (GRCm39) |
C11Y |
probably damaging |
Het |
| Smr2 |
G |
A |
5: 88,256,631 (GRCm39) |
R103H |
probably benign |
Het |
| Sobp |
T |
C |
10: 43,034,020 (GRCm39) |
Y102C |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,926,473 (GRCm39) |
F356I |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,496,097 (GRCm39) |
V1044A |
possibly damaging |
Het |
| Tecpr1 |
C |
G |
5: 144,149,408 (GRCm39) |
V340L |
probably damaging |
Het |
| Tle3 |
A |
G |
9: 61,281,295 (GRCm39) |
I22V |
probably damaging |
Het |
| Trim30a |
G |
A |
7: 104,084,851 (GRCm39) |
R120* |
probably null |
Het |
| Trim72 |
A |
G |
7: 127,607,164 (GRCm39) |
D231G |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,695,648 (GRCm39) |
N255Y |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
| Wnt7a |
A |
T |
6: 91,343,324 (GRCm39) |
|
probably null |
Het |
| Zfp51 |
C |
T |
17: 21,685,178 (GRCm39) |
Q598* |
probably null |
Het |
| Zfp617 |
A |
T |
8: 72,683,003 (GRCm39) |
N51I |
probably damaging |
Het |
| Zfp977 |
A |
T |
7: 42,229,614 (GRCm39) |
C304S |
probably damaging |
Het |
| Zic1 |
A |
G |
9: 91,246,875 (GRCm39) |
S66P |
probably damaging |
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 |
|
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 |
|
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'- ATTAACCTGCCTGTTTTCTAGAGCC -3'
(R):5'- AGTACAGCACCATGTGACCC -3'
Sequencing Primer
(F):5'- TGGAATCCTGGGTAGGAA -3'
(R):5'- AGCACCATGTGACCCCTTCTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation