Incidental Mutation 'R2279:Nktr'
| ID |
242978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nktr
|
| Ensembl Gene |
ENSMUSG00000032525 |
| Gene Name |
natural killer tumor recognition sequence |
| Synonyms |
D9Wsu172e, 5330401F18Rik |
| MMRRC Submission |
040278-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.688)
|
| Stock # |
R2279 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121548235-121585909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121560603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 116
(K116E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035112]
[ENSMUST00000182179]
[ENSMUST00000182225]
[ENSMUST00000182311]
[ENSMUST00000182337]
[ENSMUST00000182763]
[ENSMUST00000183070]
|
| AlphaFold |
P30415 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035112
AA Change: K116E
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: K116E
| 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 |
possibly damaging
Transcript: ENSMUST00000182225
AA Change: K116E
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: K116E
| 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: ENSMUST00000182311
AA Change: K80E
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138690
Gene: ENSMUSG00000032525
AA Change: K80E
| 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: ENSMUST00000182337
|
| SMART Domains |
Protein: ENSMUSP00000138164
Gene: ENSMUSG00000032525
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
7 |
101 |
1e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182904
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183311
|
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
G |
T |
5: 90,412,576 (GRCm39) |
N1249K |
probably damaging |
Het |
| Anks1b |
T |
C |
10: 89,885,958 (GRCm39) |
M218T |
probably damaging |
Het |
| Arfgef2 |
G |
C |
2: 166,707,679 (GRCm39) |
G1025A |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,868,037 (GRCm39) |
I829V |
possibly damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,035,512 (GRCm39) |
M277V |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,589,295 (GRCm39) |
I87M |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,864,484 (GRCm39) |
N149D |
probably damaging |
Het |
| Cdh20 |
C |
A |
1: 104,875,139 (GRCm39) |
A307E |
probably damaging |
Het |
| Cdk18 |
A |
T |
1: 132,043,690 (GRCm39) |
Y385N |
probably damaging |
Het |
| Cfap410 |
T |
C |
10: 77,817,476 (GRCm39) |
Y68H |
probably damaging |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Cptp |
A |
G |
4: 155,950,878 (GRCm39) |
I196T |
probably damaging |
Het |
| Cyp4b1 |
T |
A |
4: 115,497,557 (GRCm39) |
Y147F |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,471,333 (GRCm39) |
N36S |
possibly damaging |
Het |
| Dbr1 |
G |
T |
9: 99,462,200 (GRCm39) |
Q166H |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,133,765 (GRCm39) |
D580E |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,987,387 (GRCm39) |
K1308E |
possibly damaging |
Het |
| Dpep1 |
A |
T |
8: 123,920,883 (GRCm39) |
D21V |
probably benign |
Het |
| Dspp |
G |
A |
5: 104,326,250 (GRCm39) |
S871N |
unknown |
Het |
| En1 |
T |
A |
1: 120,534,916 (GRCm39) |
*402K |
probably null |
Het |
| Eogt |
G |
T |
6: 97,111,262 (GRCm39) |
R200S |
probably benign |
Het |
| Epb41l3 |
A |
G |
17: 69,577,645 (GRCm39) |
T542A |
possibly damaging |
Het |
| Fam50b |
C |
T |
13: 34,930,823 (GRCm39) |
Q100* |
probably null |
Het |
| Gask1a |
T |
C |
9: 121,794,668 (GRCm39) |
I274T |
probably benign |
Het |
| Gh |
T |
C |
11: 106,191,613 (GRCm39) |
E143G |
probably damaging |
Het |
| Hcn3 |
C |
A |
3: 89,055,168 (GRCm39) |
R693L |
probably benign |
Het |
| Htra1 |
A |
T |
7: 130,563,752 (GRCm39) |
I208F |
probably damaging |
Het |
| Ifna13 |
T |
A |
4: 88,562,156 (GRCm39) |
E156V |
probably benign |
Het |
| Ints6 |
A |
G |
14: 62,942,131 (GRCm39) |
|
probably null |
Het |
| Kifc5b |
A |
G |
17: 27,144,515 (GRCm39) |
I545V |
probably damaging |
Het |
| Lrrc4c |
C |
T |
2: 97,460,850 (GRCm39) |
S492F |
possibly damaging |
Het |
| Madd |
A |
T |
2: 90,974,028 (GRCm39) |
C1419S |
possibly damaging |
Het |
| Map2k6 |
T |
C |
11: 110,390,290 (GRCm39) |
S275P |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,955,127 (GRCm39) |
E166G |
probably damaging |
Het |
| Mrpl48 |
G |
A |
7: 100,214,471 (GRCm39) |
T48I |
probably damaging |
Het |
| Neu1 |
A |
G |
17: 35,153,350 (GRCm39) |
D291G |
probably damaging |
Het |
| Npc1 |
T |
C |
18: 12,330,236 (GRCm39) |
|
probably null |
Het |
| Or6b9 |
A |
T |
7: 106,555,834 (GRCm39) |
M103K |
probably benign |
Het |
| Or6c1b |
A |
T |
10: 129,273,526 (GRCm39) |
M282L |
probably benign |
Het |
| Or8k1 |
T |
C |
2: 86,047,148 (GRCm39) |
E302G |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,764,287 (GRCm39) |
D4253E |
unknown |
Het |
| Phactr1 |
A |
T |
13: 43,231,265 (GRCm39) |
S244C |
possibly damaging |
Het |
| Prex1 |
A |
T |
2: 166,419,875 (GRCm39) |
I79N |
probably benign |
Het |
| Rhebl1 |
A |
T |
15: 98,776,167 (GRCm39) |
D162E |
probably benign |
Het |
| Rnf32 |
G |
T |
5: 29,430,278 (GRCm39) |
V366F |
probably benign |
Het |
| Rpn2 |
A |
G |
2: 157,152,208 (GRCm39) |
T394A |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,479,664 (GRCm39) |
M4386K |
possibly damaging |
Het |
| Sirt7 |
T |
C |
11: 120,515,321 (GRCm39) |
S112G |
probably damaging |
Het |
| Slc1a6 |
A |
T |
10: 78,624,882 (GRCm39) |
M96L |
probably benign |
Het |
| Slc25a29 |
T |
C |
12: 108,792,852 (GRCm39) |
E242G |
probably benign |
Het |
| Slc30a2 |
G |
T |
4: 134,075,857 (GRCm39) |
Q210H |
probably benign |
Het |
| Sorcs2 |
A |
T |
5: 36,199,430 (GRCm39) |
|
probably null |
Het |
| Spink5 |
A |
G |
18: 44,119,396 (GRCm39) |
N236D |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
| Sytl3 |
A |
G |
17: 6,976,273 (GRCm39) |
|
probably benign |
Het |
| Tasor |
A |
C |
14: 27,164,452 (GRCm39) |
K253Q |
probably damaging |
Het |
| Tgm7 |
A |
G |
2: 120,929,045 (GRCm39) |
S284P |
probably damaging |
Het |
| Tmem45a |
A |
T |
16: 56,643,882 (GRCm39) |
L89Q |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
| Txlna |
T |
C |
4: 129,525,935 (GRCm39) |
E304G |
probably damaging |
Het |
| Zfp709 |
T |
C |
8: 72,642,934 (GRCm39) |
V121A |
probably benign |
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 |
|
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 |
|
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'- AATACCTGCTCTTTCCTCAAGG -3'
(R):5'- TTGAAGCAGCCAGTAGAGAC -3'
Sequencing Primer
(F):5'- AGGCTTTAATTAGTATCTTTTCGGCC -3'
(R):5'- GCCAGTAGAGACTACAGTTACTATG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation