Incidental Mutation 'R4556:Nktr'
| ID |
499979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nktr
|
| Ensembl Gene |
ENSMUSG00000032525 |
| Gene Name |
natural killer tumor recognition sequence |
| Synonyms |
D9Wsu172e, 5330401F18Rik |
| MMRRC Submission |
041597-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.620)
|
| Stock # |
R4556 (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 121570189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 90
(T90A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035112]
[ENSMUST00000182179]
[ENSMUST00000182225]
[ENSMUST00000182311]
[ENSMUST00000182763]
[ENSMUST00000183070]
|
| AlphaFold |
P30415 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035112
AA Change: T126A
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: T126A
| 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: T126A
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: T126A
| 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: T90A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138690
Gene: ENSMUSG00000032525
AA Change: T90A
| 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: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,157,549 (GRCm39) |
S1601P |
probably damaging |
Het |
| Erc2 |
A |
C |
14: 28,024,861 (GRCm39) |
D580A |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,995,187 (GRCm39) |
*386R |
probably null |
Het |
| Fbxo42 |
T |
A |
4: 140,926,321 (GRCm39) |
H334Q |
probably damaging |
Het |
| Gdf5 |
A |
G |
2: 155,783,782 (GRCm39) |
R24G |
probably benign |
Het |
| Lama3 |
G |
T |
18: 12,612,816 (GRCm39) |
R1200L |
possibly damaging |
Het |
| Lxn |
T |
A |
3: 67,365,953 (GRCm39) |
I182F |
possibly damaging |
Het |
| Mbd5 |
G |
A |
2: 49,169,406 (GRCm39) |
G1526R |
probably damaging |
Het |
| Mcub |
G |
A |
3: 129,709,384 (GRCm39) |
Q310* |
probably null |
Het |
| Ndufaf7 |
T |
C |
17: 79,249,516 (GRCm39) |
S138P |
probably benign |
Het |
| Nr1h5 |
G |
A |
3: 102,853,457 (GRCm39) |
A350V |
probably benign |
Het |
| Or1e29 |
G |
A |
11: 73,667,307 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or7e174 |
T |
C |
9: 20,012,619 (GRCm39) |
L188P |
possibly damaging |
Het |
| Pros1 |
A |
G |
16: 62,721,036 (GRCm39) |
K197R |
possibly damaging |
Het |
| Rmnd5b |
G |
T |
11: 51,517,732 (GRCm39) |
|
probably null |
Het |
| Rnf25 |
A |
T |
1: 74,638,264 (GRCm39) |
I26N |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,211,272 (GRCm39) |
I1582V |
probably benign |
Het |
| Sh2d3c |
A |
G |
2: 32,643,021 (GRCm39) |
T583A |
possibly damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,864,426 (GRCm39) |
Y587C |
probably damaging |
Het |
| Slc6a11 |
A |
G |
6: 114,221,773 (GRCm39) |
S488G |
probably benign |
Het |
| Smim22 |
T |
A |
16: 4,825,730 (GRCm39) |
F38L |
possibly damaging |
Het |
| Stab2 |
T |
G |
10: 86,803,543 (GRCm39) |
E335D |
possibly damaging |
Het |
| Tas2r102 |
T |
C |
6: 132,739,878 (GRCm39) |
F262S |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmem225 |
T |
C |
9: 40,060,762 (GRCm39) |
F107S |
probably damaging |
Het |
| Vmn1r229 |
T |
A |
17: 21,034,953 (GRCm39) |
V66E |
possibly damaging |
Het |
| Vmn1r27 |
A |
G |
6: 58,192,804 (GRCm39) |
S67P |
possibly damaging |
Het |
| Xrcc4 |
A |
T |
13: 90,140,623 (GRCm39) |
H195Q |
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 |
|
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 |
|
|
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'- TGTCACTTCTTCACCGAGGC -3'
(R):5'- CAGCTGCTGGCCATTTTAGG -3'
Sequencing Primer
(F):5'- CCTCACATAATCCTGCTGGG -3'
(R):5'- CTGCTAAGAGAGGACACTTCATACTG -3'
|
| Posted On |
2017-11-30 |
Incidental Mutation