Incidental Mutation 'R5648:Ncr1'
ID |
441266 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncr1
|
Ensembl Gene |
ENSMUSG00000062524 |
Gene Name |
natural cytotoxicity triggering receptor 1 |
Synonyms |
Ly94, NKp46, MAR1 (mouse activating receptor 1), Cd335 |
MMRRC Submission |
043169-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R5648 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
4340723-4348163 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4347519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 228
(I228N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145847
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006792]
[ENSMUST00000126417]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006792
AA Change: I265N
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000006792 Gene: ENSMUSG00000062524 AA Change: I265N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
IG
|
34 |
118 |
5.21e-2 |
SMART |
IG
|
129 |
211 |
1.49e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126417
AA Change: I228N
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
T |
C |
2: 25,326,510 (GRCm39) |
|
probably null |
Het |
Alpk2 |
A |
G |
18: 65,482,988 (GRCm39) |
V340A |
probably damaging |
Het |
Cald1 |
G |
T |
6: 34,739,267 (GRCm39) |
|
probably null |
Het |
Col24a1 |
C |
T |
3: 145,064,321 (GRCm39) |
T702I |
probably benign |
Het |
Ddx50 |
T |
C |
10: 62,452,049 (GRCm39) |
R725G |
unknown |
Het |
Dnah9 |
A |
T |
11: 65,818,581 (GRCm39) |
F68L |
probably benign |
Het |
Dnmt3b |
G |
A |
2: 153,519,118 (GRCm39) |
V651M |
probably damaging |
Het |
Dock1 |
G |
A |
7: 134,348,683 (GRCm39) |
C299Y |
probably damaging |
Het |
Epha4 |
T |
C |
1: 77,375,162 (GRCm39) |
I562V |
probably benign |
Het |
Esco2 |
A |
T |
14: 66,068,641 (GRCm39) |
V223D |
probably damaging |
Het |
Ggt6 |
T |
C |
11: 72,326,542 (GRCm39) |
I33T |
possibly damaging |
Het |
Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
Gm9847 |
A |
G |
12: 14,545,130 (GRCm39) |
|
noncoding transcript |
Het |
Gnao1 |
A |
T |
8: 94,676,070 (GRCm39) |
Y116F |
probably damaging |
Het |
Gvin1 |
A |
T |
7: 105,762,606 (GRCm39) |
I621K |
possibly damaging |
Het |
Hyal6 |
T |
C |
6: 24,734,235 (GRCm39) |
M56T |
possibly damaging |
Het |
Hyou1 |
T |
A |
9: 44,296,546 (GRCm39) |
D490E |
probably damaging |
Het |
Igsf10 |
G |
C |
3: 59,235,574 (GRCm39) |
Q1536E |
probably benign |
Het |
Klk1b8 |
T |
C |
7: 43,448,068 (GRCm39) |
S31P |
possibly damaging |
Het |
Map3k6 |
A |
C |
4: 132,970,646 (GRCm39) |
I178L |
probably benign |
Het |
Mycbp2 |
T |
A |
14: 103,528,778 (GRCm39) |
N427Y |
probably damaging |
Het |
Nefh |
A |
T |
11: 4,895,233 (GRCm39) |
Y319N |
probably damaging |
Het |
Or4a80 |
A |
C |
2: 89,582,417 (GRCm39) |
C252G |
probably damaging |
Het |
Pakap |
T |
C |
4: 57,854,848 (GRCm39) |
V120A |
probably damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,628,850 (GRCm39) |
Y699F |
probably benign |
Het |
Plekhd1 |
T |
C |
12: 80,767,362 (GRCm39) |
L250P |
probably damaging |
Het |
Reln |
A |
G |
5: 22,203,570 (GRCm39) |
V1228A |
probably benign |
Het |
Rhobtb2 |
G |
T |
14: 70,034,593 (GRCm39) |
R211S |
probably damaging |
Het |
Rps6kb1 |
T |
C |
11: 86,403,697 (GRCm39) |
I305V |
possibly damaging |
Het |
Slc12a2 |
G |
A |
18: 58,029,382 (GRCm39) |
G256E |
possibly damaging |
Het |
Slc4a1ap |
A |
G |
5: 31,708,129 (GRCm39) |
|
probably null |
Het |
Thoc1 |
A |
G |
18: 9,962,390 (GRCm39) |
T92A |
possibly damaging |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Tmem117 |
T |
G |
15: 94,992,653 (GRCm39) |
S438A |
possibly damaging |
Het |
Ttll7 |
A |
G |
3: 146,667,465 (GRCm39) |
N777S |
probably damaging |
Het |
Ubd |
T |
A |
17: 37,506,345 (GRCm39) |
V77E |
probably damaging |
Het |
Ubqln3 |
A |
G |
7: 103,790,117 (GRCm39) |
S658P |
probably damaging |
Het |
Vmn1r78 |
G |
A |
7: 11,886,693 (GRCm39) |
M101I |
possibly damaging |
Het |
Wdr93 |
T |
C |
7: 79,426,974 (GRCm39) |
C638R |
probably benign |
Het |
Zfp983 |
T |
A |
17: 21,877,947 (GRCm39) |
V50D |
probably damaging |
Het |
Zhx3 |
A |
T |
2: 160,623,881 (GRCm39) |
H95Q |
probably damaging |
Het |
|
Other mutations in Ncr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00832:Ncr1
|
APN |
7 |
4,344,287 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01994:Ncr1
|
APN |
7 |
4,344,253 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02163:Ncr1
|
APN |
7 |
4,344,262 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02610:Ncr1
|
APN |
7 |
4,341,132 (GRCm39) |
missense |
probably benign |
0.42 |
IGL02885:Ncr1
|
APN |
7 |
4,341,225 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03082:Ncr1
|
APN |
7 |
4,344,241 (GRCm39) |
splice site |
probably benign |
|
R0196:Ncr1
|
UTSW |
7 |
4,343,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R1172:Ncr1
|
UTSW |
7 |
4,341,120 (GRCm39) |
missense |
probably benign |
0.19 |
R1758:Ncr1
|
UTSW |
7 |
4,343,807 (GRCm39) |
missense |
probably benign |
0.40 |
R2065:Ncr1
|
UTSW |
7 |
4,341,206 (GRCm39) |
missense |
probably benign |
0.00 |
R2135:Ncr1
|
UTSW |
7 |
4,343,756 (GRCm39) |
splice site |
probably benign |
|
R2397:Ncr1
|
UTSW |
7 |
4,341,260 (GRCm39) |
missense |
probably benign |
0.22 |
R5389:Ncr1
|
UTSW |
7 |
4,343,932 (GRCm39) |
missense |
probably benign |
0.01 |
R5690:Ncr1
|
UTSW |
7 |
4,341,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R5817:Ncr1
|
UTSW |
7 |
4,343,894 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5847:Ncr1
|
UTSW |
7 |
4,347,573 (GRCm39) |
missense |
probably benign |
0.04 |
R7033:Ncr1
|
UTSW |
7 |
4,341,144 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7391:Ncr1
|
UTSW |
7 |
4,347,470 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7395:Ncr1
|
UTSW |
7 |
4,341,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R7680:Ncr1
|
UTSW |
7 |
4,341,123 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8163:Ncr1
|
UTSW |
7 |
4,343,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R8472:Ncr1
|
UTSW |
7 |
4,341,120 (GRCm39) |
missense |
probably benign |
0.19 |
R8782:Ncr1
|
UTSW |
7 |
4,340,763 (GRCm39) |
missense |
probably benign |
0.01 |
R8880:Ncr1
|
UTSW |
7 |
4,341,336 (GRCm39) |
missense |
probably benign |
0.00 |
R9066:Ncr1
|
UTSW |
7 |
4,347,552 (GRCm39) |
missense |
probably benign |
0.13 |
R9789:Ncr1
|
UTSW |
7 |
4,344,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAGTCTCTGGGGAAGGTACAG -3'
(R):5'- AGTTGCCTTCAGTTCCATCATAG -3'
Sequencing Primer
(F):5'- TAGGGACATCCTTGTGACAAG -3'
(R):5'- GCCTTCAGTTCCATCATAGATATTG -3'
|
Posted On |
2016-11-08 |