Incidental Mutation 'R9158:Nktr'
| ID |
695525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nktr
|
| Ensembl Gene |
ENSMUSG00000032525 |
| Gene Name |
natural killer tumor recognition sequence |
| Synonyms |
D9Wsu172e, 5330401F18Rik |
| MMRRC Submission |
068942-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.688)
|
| Stock # |
R9158 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121548235-121585909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 121582154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 1424
(S1424A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035112]
[ENSMUST00000182179]
[ENSMUST00000182225]
[ENSMUST00000182503]
|
| AlphaFold |
P30415 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000035112
AA Change: S1424A
|
| SMART Domains |
Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: S1424A
| 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 |
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 benign
Transcript: ENSMUST00000182225
|
| SMART Domains |
Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
G |
A |
8: 41,208,645 (GRCm39) |
C637Y |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,792,505 (GRCm39) |
T1249A |
possibly damaging |
Het |
| Alkbh3 |
A |
G |
2: 93,835,082 (GRCm39) |
S88P |
probably damaging |
Het |
| Ankrd17 |
C |
A |
5: 90,416,575 (GRCm39) |
A1086S |
probably damaging |
Het |
| Ankzf1 |
T |
A |
1: 75,173,020 (GRCm39) |
V372E |
probably damaging |
Het |
| Apbb1ip |
T |
C |
2: 22,764,951 (GRCm39) |
V544A |
probably benign |
Het |
| Atp13a2 |
T |
C |
4: 140,724,112 (GRCm39) |
|
probably null |
Het |
| Cacna2d1 |
A |
G |
5: 16,140,039 (GRCm39) |
T10A |
probably benign |
Het |
| Cadps |
T |
C |
14: 12,546,356 (GRCm38) |
N500S |
probably benign |
Het |
| Casp16 |
A |
G |
17: 23,769,948 (GRCm39) |
|
probably benign |
Het |
| Cdh22 |
T |
A |
2: 165,012,627 (GRCm39) |
I153F |
probably damaging |
Het |
| Clip2 |
T |
C |
5: 134,521,251 (GRCm39) |
E964G |
probably benign |
Het |
| Cracdl |
A |
T |
1: 37,670,442 (GRCm39) |
M166K |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,198 (GRCm39) |
D65G |
probably benign |
Het |
| Dap3 |
A |
G |
3: 88,832,637 (GRCm39) |
Y357H |
probably damaging |
Het |
| Eef2 |
C |
T |
10: 81,014,693 (GRCm39) |
|
probably benign |
Het |
| Gja4 |
A |
G |
4: 127,206,466 (GRCm39) |
L99P |
probably damaging |
Het |
| Glb1l3 |
A |
T |
9: 26,765,005 (GRCm39) |
Y135* |
probably null |
Het |
| Gm5114 |
T |
G |
7: 39,060,486 (GRCm39) |
D121A |
probably damaging |
Het |
| Gm6525 |
A |
G |
3: 84,082,255 (GRCm39) |
K59E |
probably benign |
Het |
| Herc1 |
C |
T |
9: 66,376,400 (GRCm39) |
L3407F |
probably benign |
Het |
| Hmgcr |
G |
A |
13: 96,792,170 (GRCm39) |
R589* |
probably null |
Het |
| Iglv3 |
A |
C |
16: 19,060,012 (GRCm39) |
D105E |
probably damaging |
Het |
| Il1r1 |
G |
A |
1: 40,332,391 (GRCm39) |
W60* |
probably null |
Het |
| Il31ra |
C |
T |
13: 112,670,394 (GRCm39) |
W331* |
probably null |
Het |
| Inca1 |
C |
T |
11: 70,581,376 (GRCm39) |
C16Y |
probably damaging |
Het |
| Inpp4a |
A |
G |
1: 37,442,552 (GRCm39) |
T628A |
possibly damaging |
Het |
| Kdm2a |
C |
G |
19: 4,374,715 (GRCm39) |
R805S |
possibly damaging |
Het |
| Kel |
T |
A |
6: 41,664,905 (GRCm39) |
I620L |
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,741,020 (GRCm39) |
G4638R |
unknown |
Het |
| Lilrb4b |
T |
A |
10: 51,357,829 (GRCm39) |
N174K |
possibly damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Ltf |
T |
A |
9: 110,868,003 (GRCm39) |
V615E |
probably damaging |
Het |
| Map7d1 |
G |
T |
4: 126,130,478 (GRCm39) |
Q443K |
possibly damaging |
Het |
| Mapk9 |
A |
G |
11: 49,745,095 (GRCm39) |
D3G |
probably benign |
Het |
| Npas1 |
A |
G |
7: 16,195,333 (GRCm39) |
S332P |
possibly damaging |
Het |
| Or13a25 |
T |
C |
7: 140,247,547 (GRCm39) |
S109P |
possibly damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,086 (GRCm39) |
Y295C |
probably damaging |
Het |
| Or5ak4 |
A |
G |
2: 85,161,348 (GRCm39) |
I298T |
probably benign |
Het |
| Or6d12 |
T |
C |
6: 116,492,791 (GRCm39) |
F18L |
possibly damaging |
Het |
| Or8b12b |
C |
A |
9: 37,684,800 (GRCm39) |
P282T |
probably damaging |
Het |
| Pcdh8 |
A |
G |
14: 80,005,182 (GRCm39) |
W948R |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,195,614 (GRCm39) |
E100G |
probably benign |
Het |
| Phrf1 |
T |
A |
7: 140,836,466 (GRCm39) |
V246D |
unknown |
Het |
| Pitpnb |
A |
T |
5: 111,530,876 (GRCm39) |
N223I |
probably damaging |
Het |
| Pkd1l3 |
A |
T |
8: 110,394,207 (GRCm39) |
R2065* |
probably null |
Het |
| Prepl |
T |
C |
17: 85,383,379 (GRCm39) |
D355G |
possibly damaging |
Het |
| Runx2 |
A |
G |
17: 45,046,508 (GRCm39) |
V5A |
probably benign |
Het |
| Sema4g |
T |
A |
19: 44,986,846 (GRCm39) |
V433D |
possibly damaging |
Het |
| Sema6a |
C |
T |
18: 47,431,330 (GRCm39) |
V123I |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 79,994,732 (GRCm39) |
K24E |
probably benign |
Het |
| Slc22a8 |
T |
A |
19: 8,583,427 (GRCm39) |
S211T |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,221,217 (GRCm39) |
D221G |
possibly damaging |
Het |
| Tmprss11g |
A |
T |
5: 86,637,166 (GRCm39) |
L323Q |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,687,988 (GRCm39) |
|
probably benign |
Het |
| Trim65 |
G |
A |
11: 116,018,050 (GRCm39) |
T311I |
probably benign |
Het |
| Tub |
T |
C |
7: 108,625,962 (GRCm39) |
F284L |
possibly damaging |
Het |
| Ube2j1 |
G |
A |
4: 33,036,711 (GRCm39) |
V12I |
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,161 (GRCm39) |
N97Y |
probably benign |
Het |
| Vmn2r49 |
C |
A |
7: 9,722,835 (GRCm39) |
W146C |
probably damaging |
Het |
| Zfp628 |
T |
C |
7: 4,922,153 (GRCm39) |
L125P |
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 |
|
|
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 |
|
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'- TATGCAACTGTCCTCACACC -3'
(R):5'- ATTTGCAGATGTGAGCCGTG -3'
Sequencing Primer
(F):5'- AGAGTACCCGTGTGAGCCAG -3'
(R):5'- TCCTTACTCCTCTTCCAAAAGAAATG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation