Incidental Mutation 'R2397:Ncr1'
| ID |
248550 |
| 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 |
040364-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R2397 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4340723-4348163 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4341260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 47
(F47I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006792]
[ENSMUST00000126417]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006792
AA Change: F84I
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000006792
Gene: ENSMUSG00000062524
AA Change: F84I
| 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 benign
Transcript: ENSMUST00000126417
AA Change: F47I
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (41/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
A |
8: 56,325,933 (GRCm39) |
M174L |
probably benign |
Het |
| Adamtsl1 |
C |
T |
4: 86,117,594 (GRCm39) |
R186W |
probably damaging |
Het |
| Agtpbp1 |
C |
T |
13: 59,622,383 (GRCm39) |
V948I |
probably benign |
Het |
| Atp13a2 |
A |
G |
4: 140,730,466 (GRCm39) |
T787A |
probably benign |
Het |
| Capn11 |
T |
A |
17: 45,964,147 (GRCm39) |
N139I |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,146,244 (GRCm39) |
D60G |
possibly damaging |
Het |
| Cers1 |
A |
T |
8: 70,774,186 (GRCm39) |
I148F |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,201,835 (GRCm39) |
I41T |
unknown |
Het |
| Cyp2d26 |
C |
T |
15: 82,678,236 (GRCm39) |
G47R |
probably damaging |
Het |
| Dhx36 |
A |
T |
3: 62,405,518 (GRCm39) |
M205K |
probably benign |
Het |
| Dyrk2 |
T |
A |
10: 118,697,273 (GRCm39) |
|
probably benign |
Het |
| Echs1 |
T |
C |
7: 139,692,390 (GRCm39) |
H119R |
possibly damaging |
Het |
| Ehf |
T |
A |
2: 103,107,164 (GRCm39) |
D120V |
probably damaging |
Het |
| Esrra |
A |
G |
19: 6,897,544 (GRCm39) |
L71P |
probably damaging |
Het |
| Fam228a |
A |
T |
12: 4,768,718 (GRCm39) |
S200R |
probably benign |
Het |
| Fibcd1 |
A |
T |
2: 31,724,435 (GRCm39) |
M191K |
probably benign |
Het |
| Foxn4 |
A |
G |
5: 114,393,556 (GRCm39) |
L521P |
probably damaging |
Het |
| Fscn2 |
T |
C |
11: 120,252,995 (GRCm39) |
L154P |
probably damaging |
Het |
| Gm7964 |
T |
G |
7: 83,406,321 (GRCm39) |
|
noncoding transcript |
Het |
| Golga3 |
T |
C |
5: 110,353,743 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,537,717 (GRCm39) |
L197P |
probably damaging |
Het |
| Heg1 |
T |
A |
16: 33,562,849 (GRCm39) |
M913K |
probably damaging |
Het |
| Ifi205 |
T |
C |
1: 173,845,141 (GRCm39) |
T214A |
possibly damaging |
Het |
| Ift140 |
T |
G |
17: 25,239,710 (GRCm39) |
D122E |
probably damaging |
Het |
| Jakmip1 |
T |
A |
5: 37,258,087 (GRCm39) |
D244E |
probably damaging |
Het |
| Krt84 |
A |
G |
15: 101,438,689 (GRCm39) |
V266A |
probably benign |
Het |
| Mc2r |
T |
A |
18: 68,541,224 (GRCm39) |
D23V |
probably benign |
Het |
| Nr1h3 |
G |
A |
2: 91,022,202 (GRCm39) |
T142I |
possibly damaging |
Het |
| Obox2 |
C |
T |
7: 15,130,971 (GRCm39) |
P68S |
probably benign |
Het |
| Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,384,518 (GRCm39) |
V515A |
probably benign |
Het |
| Ptdss2 |
T |
A |
7: 140,727,005 (GRCm39) |
F105I |
probably benign |
Het |
| Ruvbl1 |
A |
C |
6: 88,442,534 (GRCm39) |
T9P |
possibly damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,820,407 (GRCm39) |
E8G |
probably benign |
Het |
| Slf1 |
G |
T |
13: 77,251,702 (GRCm39) |
Y303* |
probably null |
Het |
| Socs5 |
T |
C |
17: 87,442,377 (GRCm39) |
F439S |
probably damaging |
Het |
| Tcp10c |
C |
A |
17: 13,590,473 (GRCm39) |
A357E |
probably damaging |
Het |
| Tmem200c |
T |
C |
17: 69,147,942 (GRCm39) |
V175A |
probably damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,269,859 (GRCm39) |
H38Q |
possibly damaging |
Het |
| Vmn2r54 |
T |
G |
7: 12,349,578 (GRCm39) |
Q668P |
probably damaging |
Het |
| Xrcc2 |
T |
C |
5: 25,910,708 (GRCm39) |
S3G |
probably null |
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 |
|
|
R5389:Ncr1
|
UTSW |
7 |
4,343,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5648:Ncr1
|
UTSW |
7 |
4,347,519 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- TTTCAGAGACTCTCCCGAAACC -3'
(R):5'- ATAAGGAGTGTCTGAGTGCGAC -3'
Sequencing Primer
(F):5'- TCTCCCGAAACCCATCATCTGG -3'
(R):5'- TTCAGCATTCATGAAGACAGGC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation