Incidental Mutation 'R5502:Nktr'
| ID |
430686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nktr
|
| Ensembl Gene |
ENSMUSG00000032525 |
| Gene Name |
natural killer tumor recognition sequence |
| Synonyms |
D9Wsu172e, 5330401F18Rik |
| MMRRC Submission |
043063-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.688)
|
| Stock # |
R5502 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121548235-121585909 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 121577672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035112]
[ENSMUST00000182179]
[ENSMUST00000182225]
[ENSMUST00000182503]
|
| AlphaFold |
P30415 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000035112
AA Change: T580I
|
| SMART Domains |
Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: T580I
| 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 |
unknown
Transcript: ENSMUST00000182225
AA Change: T555I
|
| SMART Domains |
Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: T555I
| 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 |
probably benign
Transcript: ENSMUST00000182713
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213351
|
| Meta Mutation Damage Score |
0.0602 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.0%
- 20x: 90.2%
|
| Validation Efficiency |
98% (84/86) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abcc8 |
A |
G |
7: 45,758,262 (GRCm39) |
I1268T |
probably benign |
Het |
| Accsl |
C |
T |
2: 93,687,289 (GRCm39) |
|
probably null |
Het |
| Actmap |
A |
G |
7: 26,896,542 (GRCm39) |
D35G |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,756,291 (GRCm39) |
I842F |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,415,370 (GRCm39) |
L98Q |
probably damaging |
Het |
| Bin2 |
A |
G |
15: 100,543,286 (GRCm39) |
V299A |
probably benign |
Het |
| Cabp4 |
G |
A |
19: 4,181,228 (GRCm39) |
|
probably benign |
Het |
| Ces2f |
A |
T |
8: 105,679,155 (GRCm39) |
H324L |
possibly damaging |
Het |
| Chd4 |
G |
A |
6: 125,082,239 (GRCm39) |
R576Q |
possibly damaging |
Het |
| Cndp1 |
A |
G |
18: 84,650,138 (GRCm39) |
V185A |
possibly damaging |
Het |
| Cntn3 |
A |
C |
6: 102,242,295 (GRCm39) |
V450G |
possibly damaging |
Het |
| Col5a2 |
C |
A |
1: 45,419,286 (GRCm39) |
G1265W |
probably damaging |
Het |
| Corin |
G |
A |
5: 72,473,449 (GRCm39) |
Q754* |
probably null |
Het |
| Cyp4a10 |
A |
G |
4: 115,382,702 (GRCm39) |
N291S |
probably benign |
Het |
| Dap3 |
T |
C |
3: 88,832,633 (GRCm39) |
Y353C |
probably damaging |
Het |
| Disp1 |
A |
G |
1: 182,869,450 (GRCm39) |
V990A |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,847,594 (GRCm39) |
|
probably null |
Het |
| Dop1b |
T |
A |
16: 93,590,114 (GRCm39) |
V179E |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,132,836 (GRCm39) |
|
probably null |
Het |
| Fyb2 |
A |
T |
4: 104,802,521 (GRCm39) |
Q141L |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,104,227 (GRCm39) |
L178* |
probably null |
Het |
| Gm15446 |
A |
T |
5: 110,088,364 (GRCm39) |
K25* |
probably null |
Het |
| Gm17067 |
A |
T |
7: 42,357,843 (GRCm39) |
C220S |
probably damaging |
Het |
| Gm4868 |
A |
G |
5: 125,925,042 (GRCm39) |
|
noncoding transcript |
Het |
| Golga4 |
GT |
GTT |
9: 118,388,125 (GRCm39) |
|
probably null |
Het |
| Gria2 |
T |
C |
3: 80,614,252 (GRCm39) |
N596S |
probably damaging |
Het |
| Hoxb4 |
A |
G |
11: 96,211,057 (GRCm39) |
D219G |
probably damaging |
Het |
| Htr1b |
T |
A |
9: 81,513,854 (GRCm39) |
Q251L |
possibly damaging |
Het |
| Ibtk |
A |
C |
9: 85,602,916 (GRCm39) |
S696R |
probably benign |
Het |
| Ide |
C |
A |
19: 37,307,855 (GRCm39) |
K52N |
unknown |
Het |
| Incenp |
C |
A |
19: 9,870,728 (GRCm39) |
L300F |
unknown |
Het |
| Ino80 |
T |
C |
2: 119,232,877 (GRCm39) |
Y1147C |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,207,702 (GRCm39) |
Y49* |
probably null |
Het |
| Mmp15 |
A |
T |
8: 96,094,812 (GRCm39) |
T229S |
possibly damaging |
Het |
| Mtmr4 |
A |
T |
11: 87,504,904 (GRCm39) |
N1133I |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,411,250 (GRCm39) |
G284R |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,448,381 (GRCm39) |
I52T |
probably damaging |
Het |
| Nat8f5 |
G |
T |
6: 85,794,635 (GRCm39) |
F108L |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,350,158 (GRCm39) |
H2402Q |
probably damaging |
Het |
| Nexn |
T |
A |
3: 151,943,941 (GRCm39) |
E331D |
probably damaging |
Het |
| Oaz3 |
T |
C |
3: 94,342,392 (GRCm39) |
D88G |
probably damaging |
Het |
| Or1n1 |
T |
C |
2: 36,750,282 (GRCm39) |
Y26C |
probably damaging |
Het |
| Or4l1 |
A |
G |
14: 50,166,993 (GRCm39) |
Y3H |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,656 (GRCm39) |
T217S |
possibly damaging |
Het |
| Pcdhga2 |
A |
T |
18: 37,803,605 (GRCm39) |
D483V |
possibly damaging |
Het |
| Pde5a |
G |
T |
3: 122,596,681 (GRCm39) |
G456V |
probably damaging |
Het |
| Qser1 |
T |
C |
2: 104,616,919 (GRCm39) |
T1298A |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,685,064 (GRCm39) |
V303A |
probably damaging |
Het |
| Rbbp6 |
T |
G |
7: 122,587,947 (GRCm39) |
M267R |
probably damaging |
Het |
| Rfx8 |
C |
A |
1: 39,722,113 (GRCm39) |
V291F |
probably damaging |
Het |
| Rnf121 |
T |
C |
7: 101,672,555 (GRCm39) |
K276R |
probably null |
Het |
| Rtca |
G |
T |
3: 116,282,931 (GRCm39) |
Y352* |
probably null |
Het |
| Rusf1 |
C |
T |
7: 127,884,308 (GRCm39) |
V225M |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,443,549 (GRCm39) |
V1865A |
probably damaging |
Het |
| Sclt1 |
C |
T |
3: 41,611,710 (GRCm39) |
E521K |
probably benign |
Het |
| Setd1a |
T |
C |
7: 127,396,420 (GRCm39) |
|
probably null |
Het |
| Slc37a4 |
G |
T |
9: 44,313,394 (GRCm39) |
V337L |
probably benign |
Het |
| Slc5a9 |
G |
T |
4: 111,750,366 (GRCm39) |
S79* |
probably null |
Het |
| Snrpd2 |
T |
C |
7: 18,885,247 (GRCm39) |
V36A |
probably benign |
Het |
| Spata31d1b |
A |
T |
13: 59,864,486 (GRCm39) |
N545Y |
probably damaging |
Het |
| Sstr4 |
CGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
2: 148,237,471 (GRCm39) |
|
probably benign |
Het |
| St7 |
G |
A |
6: 17,834,673 (GRCm39) |
V98I |
possibly damaging |
Het |
| Strip2 |
A |
T |
6: 29,927,623 (GRCm39) |
I223F |
probably benign |
Het |
| Syn2 |
A |
C |
6: 115,255,313 (GRCm39) |
N542H |
possibly damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,109,496 (GRCm39) |
T327A |
probably benign |
Het |
| Timm44 |
A |
T |
8: 4,319,992 (GRCm39) |
F59I |
possibly damaging |
Het |
| Tmem41b |
A |
T |
7: 109,581,970 (GRCm39) |
C44* |
probably null |
Het |
| Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,105,278 (GRCm39) |
|
probably benign |
Het |
| Tusc3 |
A |
T |
8: 39,597,947 (GRCm39) |
K188* |
probably null |
Het |
| Usp39 |
T |
A |
6: 72,305,670 (GRCm39) |
Q371L |
probably benign |
Het |
| Vmn2r13 |
G |
T |
5: 109,321,580 (GRCm39) |
N372K |
probably damaging |
Het |
| Zfp961 |
T |
A |
8: 72,721,903 (GRCm39) |
Y139N |
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 |
|
|
R5587:Nktr
|
UTSW |
9 |
121,577,555 (GRCm39) |
unclassified |
probably benign |
|
|
R5664:Nktr
|
UTSW |
9 |
121,578,483 (GRCm39) |
nonsense |
probably null |
|
|
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'- TCCAGCAGAGACTCCTACAG -3'
(R):5'- ATGTGCTTTGGACAGGCAGC -3'
Sequencing Primer
(F):5'- GATCCAAGTCTCATTCACGATCAG -3'
(R):5'- CTTTGGACAGGCAGCAAGTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation