Incidental Mutation 'R5664:Nktr'
ID |
444276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nktr
|
Ensembl Gene |
ENSMUSG00000032525 |
Gene Name |
natural killer tumor recognition sequence |
Synonyms |
D9Wsu172e, 5330401F18Rik |
MMRRC Submission |
043307-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.620)
|
Stock # |
R5664 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
121548235-121585909 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 121578483 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 825
(C825*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138168
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035112]
[ENSMUST00000182179]
[ENSMUST00000182225]
[ENSMUST00000182503]
|
AlphaFold |
P30415 |
Predicted Effect |
probably null
Transcript: ENSMUST00000035112
AA Change: C850*
|
SMART Domains |
Protein: ENSMUSP00000035112 Gene: ENSMUSG00000032525 AA Change: C850*
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
10 |
175 |
1.7e-48 |
PFAM |
low complexity region
|
195 |
229 |
N/A |
INTRINSIC |
low complexity region
|
277 |
294 |
N/A |
INTRINSIC |
low complexity region
|
346 |
360 |
N/A |
INTRINSIC |
low complexity region
|
427 |
459 |
N/A |
INTRINSIC |
low complexity region
|
477 |
503 |
N/A |
INTRINSIC |
low complexity region
|
509 |
565 |
N/A |
INTRINSIC |
low complexity region
|
677 |
726 |
N/A |
INTRINSIC |
low complexity region
|
736 |
749 |
N/A |
INTRINSIC |
low complexity region
|
797 |
812 |
N/A |
INTRINSIC |
low complexity region
|
900 |
914 |
N/A |
INTRINSIC |
low complexity region
|
921 |
929 |
N/A |
INTRINSIC |
low complexity region
|
948 |
958 |
N/A |
INTRINSIC |
low complexity region
|
983 |
1003 |
N/A |
INTRINSIC |
low complexity region
|
1189 |
1200 |
N/A |
INTRINSIC |
low complexity region
|
1229 |
1236 |
N/A |
INTRINSIC |
low complexity region
|
1316 |
1453 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182076
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182179
|
SMART Domains |
Protein: ENSMUSP00000138437 Gene: ENSMUSG00000032525
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
10 |
103 |
1.9e-21 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000182225
AA Change: C825*
|
SMART Domains |
Protein: ENSMUSP00000138168 Gene: ENSMUSG00000032525 AA Change: C825*
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
10 |
175 |
2.1e-47 |
PFAM |
low complexity region
|
184 |
215 |
N/A |
INTRINSIC |
low complexity region
|
252 |
269 |
N/A |
INTRINSIC |
low complexity region
|
321 |
335 |
N/A |
INTRINSIC |
low complexity region
|
402 |
434 |
N/A |
INTRINSIC |
low complexity region
|
452 |
478 |
N/A |
INTRINSIC |
low complexity region
|
484 |
540 |
N/A |
INTRINSIC |
low complexity region
|
652 |
701 |
N/A |
INTRINSIC |
low complexity region
|
711 |
724 |
N/A |
INTRINSIC |
low complexity region
|
772 |
787 |
N/A |
INTRINSIC |
low complexity region
|
875 |
889 |
N/A |
INTRINSIC |
low complexity region
|
896 |
904 |
N/A |
INTRINSIC |
low complexity region
|
923 |
933 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182503
|
SMART Domains |
Protein: ENSMUSP00000138463 Gene: ENSMUSG00000032525
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
85 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182607
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213351
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182713
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610030E20Rik |
T |
A |
6: 72,325,977 (GRCm39) |
|
probably null |
Het |
9430015G10Rik |
T |
A |
4: 156,208,016 (GRCm39) |
L112H |
probably damaging |
Het |
Acaca |
T |
C |
11: 84,134,210 (GRCm39) |
L441P |
probably damaging |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Arsj |
A |
T |
3: 126,232,306 (GRCm39) |
I351F |
probably damaging |
Het |
Atp6v1b2 |
A |
G |
8: 69,560,272 (GRCm39) |
T373A |
probably damaging |
Het |
Atr |
C |
A |
9: 95,787,866 (GRCm39) |
N1486K |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,730,824 (GRCm39) |
S583P |
probably damaging |
Het |
Bptf |
A |
T |
11: 106,964,525 (GRCm39) |
D1493E |
probably benign |
Het |
Brme1 |
A |
T |
8: 84,893,288 (GRCm39) |
I152F |
probably benign |
Het |
C2cd2l |
T |
C |
9: 44,225,069 (GRCm39) |
E548G |
probably damaging |
Het |
Capn3 |
G |
A |
2: 120,307,506 (GRCm39) |
R15Q |
probably benign |
Het |
Ccl3 |
A |
G |
11: 83,540,039 (GRCm39) |
F22S |
probably benign |
Het |
Clcf1 |
T |
C |
19: 4,272,150 (GRCm39) |
F69S |
probably damaging |
Het |
Col13a1 |
T |
C |
10: 61,686,895 (GRCm39) |
E170G |
probably damaging |
Het |
Dhx29 |
T |
A |
13: 113,083,413 (GRCm39) |
F489L |
probably damaging |
Het |
Dhx8 |
A |
T |
11: 101,631,577 (GRCm39) |
N390I |
probably damaging |
Het |
Dkk1 |
T |
A |
19: 30,526,189 (GRCm39) |
Y135F |
probably benign |
Het |
Edil3 |
G |
T |
13: 89,467,832 (GRCm39) |
V446F |
probably damaging |
Het |
Epha5 |
T |
A |
5: 84,479,725 (GRCm39) |
E93V |
probably damaging |
Het |
Epsti1 |
C |
T |
14: 78,201,104 (GRCm39) |
T196I |
possibly damaging |
Het |
Fras1 |
T |
C |
5: 96,876,394 (GRCm39) |
S2376P |
possibly damaging |
Het |
Frem2 |
A |
G |
3: 53,559,911 (GRCm39) |
V1532A |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,818,439 (GRCm39) |
M4724K |
probably benign |
Het |
Gcat |
T |
A |
15: 78,927,273 (GRCm39) |
L238Q |
probably damaging |
Het |
Gimap6 |
T |
C |
6: 48,679,209 (GRCm39) |
K276E |
probably benign |
Het |
Gjb5 |
T |
A |
4: 127,249,722 (GRCm39) |
I141F |
probably benign |
Het |
Glt6d1 |
T |
C |
2: 25,704,192 (GRCm39) |
I7V |
probably benign |
Het |
Gtf2h5 |
G |
A |
17: 6,134,799 (GRCm39) |
G30R |
probably damaging |
Het |
Herc6 |
C |
A |
6: 57,595,669 (GRCm39) |
T449K |
probably benign |
Het |
Hpn |
A |
T |
7: 30,798,687 (GRCm39) |
Y132N |
probably damaging |
Het |
Hpx |
A |
T |
7: 105,244,355 (GRCm39) |
M190K |
probably benign |
Het |
Inf2 |
A |
G |
12: 112,578,162 (GRCm39) |
H1151R |
unknown |
Het |
Krt74 |
A |
G |
15: 101,669,014 (GRCm39) |
|
noncoding transcript |
Het |
Loxl3 |
G |
A |
6: 83,026,863 (GRCm39) |
S564N |
probably benign |
Het |
Map7 |
T |
A |
10: 20,143,105 (GRCm39) |
V418E |
unknown |
Het |
Mrpl37 |
T |
C |
4: 106,921,588 (GRCm39) |
N214D |
probably benign |
Het |
Mthfr |
T |
C |
4: 148,139,923 (GRCm39) |
Y656H |
probably damaging |
Het |
Myo9b |
A |
G |
8: 71,812,526 (GRCm39) |
D2099G |
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,725,581 (GRCm39) |
E1029G |
probably benign |
Het |
Nup133 |
T |
C |
8: 124,633,020 (GRCm39) |
D1037G |
probably benign |
Het |
Or4b12 |
A |
G |
2: 90,095,959 (GRCm39) |
F272L |
probably damaging |
Het |
Or5w22 |
T |
C |
2: 87,363,178 (GRCm39) |
L267P |
probably benign |
Het |
Pcdhb14 |
T |
A |
18: 37,582,049 (GRCm39) |
V385D |
possibly damaging |
Het |
Pik3c2g |
T |
C |
6: 139,682,733 (GRCm39) |
L38P |
probably damaging |
Het |
Pkd1 |
A |
T |
17: 24,788,345 (GRCm39) |
D701V |
probably damaging |
Het |
Pnpla6 |
A |
G |
8: 3,587,478 (GRCm39) |
T1070A |
probably damaging |
Het |
Ppl |
T |
C |
16: 4,923,919 (GRCm39) |
D185G |
probably benign |
Het |
Prp2rt |
C |
A |
13: 97,235,629 (GRCm39) |
L39F |
probably damaging |
Het |
Prss1l |
C |
T |
6: 41,371,605 (GRCm39) |
P17L |
probably benign |
Het |
Prune1 |
A |
T |
3: 95,165,489 (GRCm39) |
L261Q |
probably damaging |
Het |
Qser1 |
A |
T |
2: 104,608,541 (GRCm39) |
L1444I |
probably damaging |
Het |
Serpina6 |
A |
C |
12: 103,620,726 (GRCm39) |
C8G |
probably damaging |
Het |
Sla2 |
A |
T |
2: 156,716,919 (GRCm39) |
D180E |
probably benign |
Het |
Slc4a4 |
C |
T |
5: 89,176,103 (GRCm39) |
L25F |
probably damaging |
Het |
Snhg16 |
A |
T |
11: 116,563,490 (GRCm39) |
T27S |
possibly damaging |
Het |
Tbx3 |
A |
G |
5: 119,816,796 (GRCm39) |
K311R |
possibly damaging |
Het |
Tdpoz6 |
A |
G |
3: 93,599,994 (GRCm39) |
F125S |
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,910,099 (GRCm39) |
C167S |
probably damaging |
Het |
Trak1 |
T |
A |
9: 121,301,373 (GRCm39) |
C710S |
possibly damaging |
Het |
Tsks |
G |
A |
7: 44,603,208 (GRCm39) |
E337K |
probably damaging |
Het |
Vcpip1 |
A |
G |
1: 9,816,604 (GRCm39) |
I593T |
probably damaging |
Het |
Vmn2r118 |
A |
G |
17: 55,899,765 (GRCm39) |
I713T |
possibly damaging |
Het |
Vmn2r23 |
C |
T |
6: 123,690,033 (GRCm39) |
T303M |
probably damaging |
Het |
Vmn2r68 |
A |
T |
7: 84,882,978 (GRCm39) |
M258K |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,895,202 (GRCm39) |
|
probably null |
Het |
Wap |
A |
G |
11: 6,588,609 (GRCm39) |
I5T |
possibly damaging |
Het |
Zfp235 |
A |
C |
7: 23,841,576 (GRCm39) |
H665P |
probably damaging |
Het |
|
Other mutations in Nktr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01333:Nktr
|
APN |
9 |
121,560,630 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01402:Nktr
|
APN |
9 |
121,570,218 (GRCm39) |
splice site |
probably null |
|
IGL01404:Nktr
|
APN |
9 |
121,570,218 (GRCm39) |
splice site |
probably null |
|
IGL02945:Nktr
|
APN |
9 |
121,557,697 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03334:Nktr
|
APN |
9 |
121,577,242 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03134:Nktr
|
UTSW |
9 |
121,575,532 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4131001:Nktr
|
UTSW |
9 |
121,570,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R0010:Nktr
|
UTSW |
9 |
121,570,232 (GRCm39) |
splice site |
probably benign |
|
R0158:Nktr
|
UTSW |
9 |
121,579,757 (GRCm39) |
unclassified |
probably benign |
|
R0399:Nktr
|
UTSW |
9 |
121,560,550 (GRCm39) |
missense |
probably damaging |
0.98 |
R0503:Nktr
|
UTSW |
9 |
121,579,806 (GRCm39) |
unclassified |
probably benign |
|
R0585:Nktr
|
UTSW |
9 |
121,583,346 (GRCm39) |
utr 3 prime |
probably benign |
|
R0606:Nktr
|
UTSW |
9 |
121,578,356 (GRCm39) |
unclassified |
probably benign |
|
R1248:Nktr
|
UTSW |
9 |
121,556,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R1899:Nktr
|
UTSW |
9 |
121,577,932 (GRCm39) |
unclassified |
probably benign |
|
R1912:Nktr
|
UTSW |
9 |
121,579,306 (GRCm39) |
unclassified |
probably benign |
|
R2049:Nktr
|
UTSW |
9 |
121,570,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R2279:Nktr
|
UTSW |
9 |
121,560,603 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2912:Nktr
|
UTSW |
9 |
121,578,670 (GRCm39) |
unclassified |
probably benign |
|
R2913:Nktr
|
UTSW |
9 |
121,578,670 (GRCm39) |
unclassified |
probably benign |
|
R2914:Nktr
|
UTSW |
9 |
121,578,670 (GRCm39) |
unclassified |
probably benign |
|
R3939:Nktr
|
UTSW |
9 |
121,578,135 (GRCm39) |
unclassified |
probably benign |
|
R4080:Nktr
|
UTSW |
9 |
121,570,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R4471:Nktr
|
UTSW |
9 |
121,577,962 (GRCm39) |
unclassified |
probably benign |
|
R4472:Nktr
|
UTSW |
9 |
121,577,962 (GRCm39) |
unclassified |
probably benign |
|
R4506:Nktr
|
UTSW |
9 |
121,577,949 (GRCm39) |
unclassified |
probably benign |
|
R4556:Nktr
|
UTSW |
9 |
121,570,189 (GRCm39) |
missense |
probably damaging |
0.98 |
R4736:Nktr
|
UTSW |
9 |
121,578,805 (GRCm39) |
unclassified |
probably benign |
|
R4749:Nktr
|
UTSW |
9 |
121,570,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R4943:Nktr
|
UTSW |
9 |
121,549,020 (GRCm39) |
intron |
probably benign |
|
R5084:Nktr
|
UTSW |
9 |
121,577,176 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5250:Nktr
|
UTSW |
9 |
121,578,858 (GRCm39) |
unclassified |
probably benign |
|
R5288:Nktr
|
UTSW |
9 |
121,577,659 (GRCm39) |
missense |
probably benign |
0.23 |
R5324:Nktr
|
UTSW |
9 |
121,556,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R5330:Nktr
|
UTSW |
9 |
121,581,834 (GRCm39) |
intron |
probably benign |
|
R5331:Nktr
|
UTSW |
9 |
121,581,834 (GRCm39) |
intron |
probably benign |
|
R5502:Nktr
|
UTSW |
9 |
121,577,672 (GRCm39) |
unclassified |
probably benign |
|
R5587:Nktr
|
UTSW |
9 |
121,577,555 (GRCm39) |
unclassified |
probably benign |
|
R6005:Nktr
|
UTSW |
9 |
121,577,460 (GRCm39) |
unclassified |
probably benign |
|
R6057:Nktr
|
UTSW |
9 |
121,577,455 (GRCm39) |
unclassified |
probably benign |
|
R6083:Nktr
|
UTSW |
9 |
121,579,202 (GRCm39) |
unclassified |
probably benign |
|
R6274:Nktr
|
UTSW |
9 |
121,560,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R6445:Nktr
|
UTSW |
9 |
121,577,480 (GRCm39) |
unclassified |
probably benign |
|
R6467:Nktr
|
UTSW |
9 |
121,560,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R6911:Nktr
|
UTSW |
9 |
121,583,392 (GRCm39) |
nonsense |
probably null |
|
R6960:Nktr
|
UTSW |
9 |
121,571,758 (GRCm39) |
missense |
probably damaging |
0.99 |
R7226:Nktr
|
UTSW |
9 |
121,575,599 (GRCm39) |
missense |
probably damaging |
0.99 |
R7324:Nktr
|
UTSW |
9 |
121,577,357 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7324:Nktr
|
UTSW |
9 |
121,556,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R7451:Nktr
|
UTSW |
9 |
121,558,722 (GRCm39) |
missense |
probably damaging |
0.99 |
R7464:Nktr
|
UTSW |
9 |
121,579,393 (GRCm39) |
missense |
unknown |
|
R7537:Nktr
|
UTSW |
9 |
121,578,345 (GRCm39) |
missense |
unknown |
|
R8126:Nktr
|
UTSW |
9 |
121,575,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R8163:Nktr
|
UTSW |
9 |
121,579,929 (GRCm39) |
unclassified |
probably benign |
|
R8812:Nktr
|
UTSW |
9 |
121,579,317 (GRCm39) |
missense |
unknown |
|
R8829:Nktr
|
UTSW |
9 |
121,583,330 (GRCm39) |
missense |
unknown |
|
R8945:Nktr
|
UTSW |
9 |
121,575,558 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9158:Nktr
|
UTSW |
9 |
121,582,154 (GRCm39) |
missense |
unknown |
|
R9252:Nktr
|
UTSW |
9 |
121,579,415 (GRCm39) |
missense |
unknown |
|
R9378:Nktr
|
UTSW |
9 |
121,577,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCAGAGAGAAATCCTCACG -3'
(R):5'- GACTCTGACCAACTTCTGACTC -3'
Sequencing Primer
(F):5'- TCCTCACGTCACAGAAAGTATAGTG -3'
(R):5'- ACTCGGAGTCTGAAGAGGCTTC -3'
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Posted On |
2016-11-09 |