Incidental Mutation 'R4080:Nktr'
| ID |
316824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nktr
|
| Ensembl Gene |
ENSMUSG00000032525 |
| Gene Name |
natural killer tumor recognition sequence |
| Synonyms |
5330401F18Rik, D9Wsu172e |
| MMRRC Submission |
040856-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.541)
|
| Stock # |
R4080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121719169-121756843 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 121741126 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 127
(T127P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035112]
[ENSMUST00000182179]
[ENSMUST00000182225]
[ENSMUST00000182311]
[ENSMUST00000182763]
[ENSMUST00000183070]
|
| AlphaFold |
P30415 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035112
AA Change: T127P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: T127P
| 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: ENSMUST00000182086
|
| 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 damaging
Transcript: ENSMUST00000182225
AA Change: T127P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: T127P
| 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 damaging
Transcript: ENSMUST00000182311
AA Change: T91P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138690
Gene: ENSMUSG00000032525
AA Change: T91P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
10 |
54 |
2.9e-8 |
PFAM |
|
Pfam:Pro_isomerase
|
44 |
99 |
7.1e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182763
|
| SMART Domains |
Protein: ENSMUSP00000138272
Gene: ENSMUSG00000032525
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
10 |
68 |
3.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182904
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183070
|
| SMART Domains |
Protein: ENSMUSP00000138611
Gene: ENSMUSG00000032525
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
10 |
103 |
1.9e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216573
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,109,498 (GRCm38) |
D324E |
possibly damaging |
Het |
| Adam7 |
T |
C |
14: 68,520,539 (GRCm38) |
T245A |
probably benign |
Het |
| Adgrf3 |
G |
A |
5: 30,197,369 (GRCm38) |
Q554* |
probably null |
Het |
| Aim2 |
T |
C |
1: 173,459,851 (GRCm38) |
|
probably null |
Het |
| Arhgef1 |
G |
T |
7: 24,925,846 (GRCm38) |
D850Y |
probably damaging |
Het |
| Aspm |
C |
A |
1: 139,470,755 (GRCm38) |
Q1024K |
probably damaging |
Het |
| C7 |
T |
C |
15: 4,990,464 (GRCm38) |
S734G |
probably benign |
Het |
| Ccdc158 |
A |
T |
5: 92,623,396 (GRCm38) |
S987T |
probably benign |
Het |
| Chrna2 |
C |
A |
14: 66,143,424 (GRCm38) |
Y47* |
probably null |
Het |
| Chrna2 |
G |
T |
14: 66,143,417 (GRCm38) |
G45V |
probably benign |
Het |
| Clec2g |
C |
A |
6: 128,981,324 (GRCm38) |
Q117K |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,101,574 (GRCm38) |
S253G |
probably benign |
Het |
| Cttn |
T |
A |
7: 144,457,724 (GRCm38) |
D116V |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,802,529 (GRCm38) |
V286A |
probably benign |
Het |
| Dcbld2 |
T |
A |
16: 58,465,373 (GRCm38) |
S632T |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,683,772 (GRCm38) |
N1118K |
probably benign |
Het |
| Eif2a |
C |
T |
3: 58,539,629 (GRCm38) |
T92M |
possibly damaging |
Het |
| Frmpd1 |
T |
A |
4: 45,284,382 (GRCm38) |
C1068S |
probably benign |
Het |
| Fstl1 |
G |
A |
16: 37,822,603 (GRCm38) |
V110I |
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,433,622 (GRCm38) |
I465T |
probably damaging |
Het |
| Gpr137 |
C |
T |
19: 6,940,423 (GRCm38) |
|
probably benign |
Het |
| Hgsnat |
A |
G |
8: 25,946,343 (GRCm38) |
I561T |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,652,912 (GRCm38) |
|
probably null |
Het |
| Ilf3 |
A |
G |
9: 21,403,134 (GRCm38) |
|
probably null |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 52,725,906 (GRCm38) |
74 |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,692,077 (GRCm38) |
C51Y |
probably damaging |
Het |
| Lrrc41 |
C |
A |
4: 116,080,546 (GRCm38) |
|
probably null |
Het |
| Myh11 |
C |
A |
16: 14,224,059 (GRCm38) |
R700L |
possibly damaging |
Het |
| Myo16 |
A |
G |
8: 10,562,240 (GRCm38) |
D1295G |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,740,488 (GRCm38) |
M1488V |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,299,307 (GRCm38) |
Y903N |
probably damaging |
Het |
| Nek6 |
A |
G |
2: 38,550,637 (GRCm38) |
H19R |
probably damaging |
Het |
| Noc4l |
A |
T |
5: 110,649,872 (GRCm38) |
D335E |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,301,809 (GRCm38) |
D1993G |
probably damaging |
Het |
| Or1ad1 |
G |
A |
11: 50,984,856 (GRCm38) |
D52N |
probably damaging |
Het |
| Or5h22 |
A |
T |
16: 59,074,256 (GRCm38) |
F275I |
probably damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,775,530 (GRCm38) |
Q616L |
possibly damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,685,779 (GRCm38) |
D127V |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 141,259,720 (GRCm38) |
|
probably benign |
Het |
| Phtf2 |
T |
A |
5: 20,813,296 (GRCm38) |
I16F |
probably damaging |
Het |
| Plekhg3 |
G |
T |
12: 76,577,981 (GRCm38) |
R1200L |
probably benign |
Het |
| Plod3 |
G |
C |
5: 136,988,146 (GRCm38) |
A50P |
probably benign |
Het |
| Prorp |
G |
T |
12: 55,304,613 (GRCm38) |
V236F |
possibly damaging |
Het |
| Prss12 |
A |
G |
3: 123,485,485 (GRCm38) |
N404D |
probably benign |
Het |
| Ptch2 |
C |
G |
4: 117,111,206 (GRCm38) |
A926G |
probably damaging |
Het |
| Ptpa |
T |
C |
2: 30,443,305 (GRCm38) |
F6L |
probably damaging |
Het |
| Reck |
T |
C |
4: 43,942,293 (GRCm38) |
I853T |
possibly damaging |
Het |
| Reep6 |
G |
A |
10: 80,330,162 (GRCm38) |
|
probably benign |
Het |
| Rex2 |
T |
A |
4: 147,058,697 (GRCm38) |
S547R |
probably benign |
Het |
| Rgs22 |
C |
T |
15: 36,107,076 (GRCm38) |
E55K |
probably damaging |
Het |
| Rtl6 |
T |
C |
15: 84,557,001 (GRCm38) |
T65A |
possibly damaging |
Het |
| Scarb1 |
G |
T |
5: 125,277,795 (GRCm38) |
P491Q |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,431,519 (GRCm38) |
S505G |
probably benign |
Het |
| Scube1 |
T |
G |
15: 83,608,747 (GRCm38) |
Q904P |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,921,184 (GRCm38) |
Y1186C |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,214,066 (GRCm38) |
D1334G |
probably benign |
Het |
| Spty2d1 |
T |
C |
7: 46,998,581 (GRCm38) |
E200G |
probably damaging |
Het |
| Stard13 |
C |
A |
5: 151,092,829 (GRCm38) |
|
probably null |
Het |
| Sybu |
T |
C |
15: 44,718,943 (GRCm38) |
K95R |
probably damaging |
Het |
| Trappc9 |
T |
A |
15: 72,941,947 (GRCm38) |
D488V |
probably damaging |
Het |
| Txk |
G |
A |
5: 72,700,663 (GRCm38) |
P381S |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 46,988,722 (GRCm38) |
M198K |
probably benign |
Het |
| Unc5a |
A |
T |
13: 55,004,481 (GRCm38) |
T786S |
possibly damaging |
Het |
| Unc93b1 |
G |
A |
19: 3,941,959 (GRCm38) |
R231Q |
probably damaging |
Het |
| Wfdc1 |
T |
A |
8: 119,683,793 (GRCm38) |
|
probably null |
Het |
| Zfp667 |
T |
G |
7: 6,305,106 (GRCm38) |
C258G |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,162,233 (GRCm38) |
R823H |
probably benign |
Het |
|
| Other mutations in Nktr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01333:Nktr
|
APN |
9 |
121,731,564 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01402:Nktr
|
APN |
9 |
121,741,152 (GRCm38) |
splice site |
probably null |
|
|
IGL01404:Nktr
|
APN |
9 |
121,741,152 (GRCm38) |
splice site |
probably null |
|
|
IGL02945:Nktr
|
APN |
9 |
121,728,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03334:Nktr
|
APN |
9 |
121,748,176 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL03134:Nktr
|
UTSW |
9 |
121,746,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Nktr
|
UTSW |
9 |
121,741,621 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0010:Nktr
|
UTSW |
9 |
121,741,166 (GRCm38) |
splice site |
probably benign |
|
|
R0158:Nktr
|
UTSW |
9 |
121,750,691 (GRCm38) |
unclassified |
probably benign |
|
|
R0399:Nktr
|
UTSW |
9 |
121,731,484 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0503:Nktr
|
UTSW |
9 |
121,750,740 (GRCm38) |
unclassified |
probably benign |
|
|
R0585:Nktr
|
UTSW |
9 |
121,754,280 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0606:Nktr
|
UTSW |
9 |
121,749,290 (GRCm38) |
unclassified |
probably benign |
|
|
R1248:Nktr
|
UTSW |
9 |
121,727,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1899:Nktr
|
UTSW |
9 |
121,748,866 (GRCm38) |
unclassified |
probably benign |
|
|
R1912:Nktr
|
UTSW |
9 |
121,750,240 (GRCm38) |
unclassified |
probably benign |
|
|
R2049:Nktr
|
UTSW |
9 |
121,741,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2279:Nktr
|
UTSW |
9 |
121,731,537 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2912:Nktr
|
UTSW |
9 |
121,749,604 (GRCm38) |
unclassified |
probably benign |
|
|
R2913:Nktr
|
UTSW |
9 |
121,749,604 (GRCm38) |
unclassified |
probably benign |
|
|
R2914:Nktr
|
UTSW |
9 |
121,749,604 (GRCm38) |
unclassified |
probably benign |
|
|
R3939:Nktr
|
UTSW |
9 |
121,749,069 (GRCm38) |
unclassified |
probably benign |
|
|
R4471:Nktr
|
UTSW |
9 |
121,748,896 (GRCm38) |
unclassified |
probably benign |
|
|
R4472:Nktr
|
UTSW |
9 |
121,748,896 (GRCm38) |
unclassified |
probably benign |
|
|
R4506:Nktr
|
UTSW |
9 |
121,748,883 (GRCm38) |
unclassified |
probably benign |
|
|
R4556:Nktr
|
UTSW |
9 |
121,741,123 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4736:Nktr
|
UTSW |
9 |
121,749,739 (GRCm38) |
unclassified |
probably benign |
|
|
R4749:Nktr
|
UTSW |
9 |
121,741,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4943:Nktr
|
UTSW |
9 |
121,719,954 (GRCm38) |
intron |
probably benign |
|
|
R5084:Nktr
|
UTSW |
9 |
121,748,110 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5250:Nktr
|
UTSW |
9 |
121,749,792 (GRCm38) |
unclassified |
probably benign |
|
|
R5288:Nktr
|
UTSW |
9 |
121,748,593 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5324:Nktr
|
UTSW |
9 |
121,727,346 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5330:Nktr
|
UTSW |
9 |
121,752,768 (GRCm38) |
intron |
probably benign |
|
|
R5331:Nktr
|
UTSW |
9 |
121,752,768 (GRCm38) |
intron |
probably benign |
|
|
R5502:Nktr
|
UTSW |
9 |
121,748,606 (GRCm38) |
unclassified |
probably benign |
|
|
R5587:Nktr
|
UTSW |
9 |
121,748,489 (GRCm38) |
unclassified |
probably benign |
|
|
R5664:Nktr
|
UTSW |
9 |
121,749,417 (GRCm38) |
nonsense |
probably null |
|
|
R6005:Nktr
|
UTSW |
9 |
121,748,394 (GRCm38) |
unclassified |
probably benign |
|
|
R6057:Nktr
|
UTSW |
9 |
121,748,389 (GRCm38) |
unclassified |
probably benign |
|
|
R6083:Nktr
|
UTSW |
9 |
121,750,136 (GRCm38) |
unclassified |
probably benign |
|
|
R6274:Nktr
|
UTSW |
9 |
121,731,565 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6445:Nktr
|
UTSW |
9 |
121,748,414 (GRCm38) |
unclassified |
probably benign |
|
|
R6467:Nktr
|
UTSW |
9 |
121,731,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6911:Nktr
|
UTSW |
9 |
121,754,326 (GRCm38) |
nonsense |
probably null |
|
|
R6960:Nktr
|
UTSW |
9 |
121,742,692 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7226:Nktr
|
UTSW |
9 |
121,746,533 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7324:Nktr
|
UTSW |
9 |
121,748,291 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R7324:Nktr
|
UTSW |
9 |
121,727,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7451:Nktr
|
UTSW |
9 |
121,729,656 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7464:Nktr
|
UTSW |
9 |
121,750,327 (GRCm38) |
missense |
unknown |
|
|
R7537:Nktr
|
UTSW |
9 |
121,749,279 (GRCm38) |
missense |
unknown |
|
|
R8126:Nktr
|
UTSW |
9 |
121,746,448 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8163:Nktr
|
UTSW |
9 |
121,750,863 (GRCm38) |
unclassified |
probably benign |
|
|
R8812:Nktr
|
UTSW |
9 |
121,750,251 (GRCm38) |
missense |
unknown |
|
|
R8829:Nktr
|
UTSW |
9 |
121,754,264 (GRCm38) |
missense |
unknown |
|
|
R8945:Nktr
|
UTSW |
9 |
121,746,492 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R9158:Nktr
|
UTSW |
9 |
121,753,088 (GRCm38) |
missense |
unknown |
|
|
R9252:Nktr
|
UTSW |
9 |
121,750,349 (GRCm38) |
missense |
unknown |
|
|
R9378:Nktr
|
UTSW |
9 |
121,748,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCACATAATCCTGCTGGG -3'
(R):5'- CAGCTGCTGGCCATTTTAGG -3'
Sequencing Primer
(F):5'- AGTAAAATGGCTACTATTGGTGTTTG -3'
(R):5'- CTGCTAAGAGAGGACACTTCATACTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation