Incidental Mutation 'R6467:Nktr'
| ID |
516655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nktr
|
| Ensembl Gene |
ENSMUSG00000032525 |
| Gene Name |
natural killer tumor recognition sequence |
| Synonyms |
D9Wsu172e, 5330401F18Rik |
| MMRRC Submission |
044600-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.620)
|
| Stock # |
R6467 (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 C
at 121560585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 74
(S74P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035112]
[ENSMUST00000182179]
[ENSMUST00000182225]
[ENSMUST00000182311]
[ENSMUST00000182337]
[ENSMUST00000183070]
[ENSMUST00000182763]
|
| AlphaFold |
P30415 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035112
AA Change: S110P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: S110P
| 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: S110P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: S110P
| 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: S74P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138690
Gene: ENSMUSG00000032525
AA Change: S74P
| 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: ENSMUST00000183311
|
| 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 |
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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
99% (72/73) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
T |
C |
15: 101,092,722 (GRCm39) |
W122R |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,592,657 (GRCm39) |
R4294H |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,024,315 (GRCm39) |
T74A |
probably damaging |
Het |
| Aff3 |
T |
A |
1: 38,247,098 (GRCm39) |
D829V |
probably benign |
Het |
| Akr1c12 |
T |
C |
13: 4,325,772 (GRCm39) |
Q107R |
probably benign |
Het |
| Apc |
T |
A |
18: 34,402,252 (GRCm39) |
F131I |
probably benign |
Het |
| Atosb |
A |
T |
4: 43,033,687 (GRCm39) |
F489I |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,259,424 (GRCm39) |
L1036H |
probably damaging |
Het |
| BC035044 |
A |
C |
6: 128,867,855 (GRCm39) |
|
probably benign |
Het |
| C1rl |
A |
G |
6: 124,485,535 (GRCm39) |
D302G |
probably benign |
Het |
| C2cd6 |
A |
C |
1: 59,117,093 (GRCm39) |
D133E |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,629,671 (GRCm39) |
Y1061F |
probably damaging |
Het |
| Cav1 |
A |
G |
6: 17,308,034 (GRCm39) |
D62G |
probably damaging |
Het |
| Ccdc77 |
T |
C |
6: 120,327,242 (GRCm39) |
M68V |
probably damaging |
Het |
| Cd55 |
A |
T |
1: 130,375,348 (GRCm39) |
|
probably benign |
Het |
| Cdc27 |
C |
A |
11: 104,413,602 (GRCm39) |
A380S |
probably damaging |
Het |
| Cenpb |
A |
T |
2: 131,021,477 (GRCm39) |
I107K |
probably damaging |
Het |
| Cep135 |
T |
G |
5: 76,769,187 (GRCm39) |
H612Q |
possibly damaging |
Het |
| Chd1l |
A |
T |
3: 97,470,849 (GRCm39) |
N815K |
probably damaging |
Het |
| Cldn20 |
C |
T |
17: 3,582,992 (GRCm39) |
T55M |
possibly damaging |
Het |
| Depdc1a |
A |
T |
3: 159,221,679 (GRCm39) |
I208L |
probably benign |
Het |
| Dgkb |
C |
T |
12: 38,134,223 (GRCm39) |
A43V |
possibly damaging |
Het |
| Dgkb |
C |
T |
12: 38,654,104 (GRCm39) |
T741I |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,197,076 (GRCm39) |
N653S |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,438,329 (GRCm39) |
S3987T |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,906,758 (GRCm39) |
D685G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,334,277 (GRCm39) |
I4835N |
probably damaging |
Het |
| Esrrb |
A |
G |
12: 86,561,114 (GRCm39) |
I288V |
probably damaging |
Het |
| Fnta |
C |
T |
8: 26,497,341 (GRCm39) |
W169* |
probably null |
Het |
| Golga4 |
T |
C |
9: 118,365,860 (GRCm39) |
L304P |
probably damaging |
Het |
| Hace1 |
A |
G |
10: 45,466,362 (GRCm39) |
|
probably null |
Het |
| Ino80b |
G |
T |
6: 83,101,112 (GRCm39) |
|
probably null |
Het |
| Kcmf1 |
G |
A |
6: 72,820,082 (GRCm39) |
R306C |
probably damaging |
Het |
| Lrrc46 |
G |
A |
11: 96,927,305 (GRCm39) |
T92I |
possibly damaging |
Het |
| Man2b1 |
T |
C |
8: 85,824,076 (GRCm39) |
V991A |
possibly damaging |
Het |
| Mga |
A |
G |
2: 119,776,776 (GRCm39) |
N1770S |
probably damaging |
Het |
| Mgat4e |
T |
C |
1: 134,468,944 (GRCm39) |
T367A |
probably benign |
Het |
| Mtr |
A |
G |
13: 12,202,992 (GRCm39) |
S1204P |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,417,487 (GRCm39) |
|
probably null |
Het |
| Noct |
T |
C |
3: 51,157,508 (GRCm39) |
V282A |
possibly damaging |
Het |
| Nol11 |
A |
T |
11: 107,071,912 (GRCm39) |
I227K |
possibly damaging |
Het |
| Nsd3 |
T |
A |
8: 26,130,646 (GRCm39) |
S4T |
probably damaging |
Het |
| Or5m10b |
T |
A |
2: 85,699,714 (GRCm39) |
Y259* |
probably null |
Het |
| Or5p64 |
A |
G |
7: 107,855,109 (GRCm39) |
S79P |
probably damaging |
Het |
| Pds5a |
T |
A |
5: 65,809,782 (GRCm39) |
L393F |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,336,259 (GRCm39) |
R1486C |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,272,028 (GRCm39) |
T768A |
probably damaging |
Het |
| Rin3 |
A |
T |
12: 102,335,584 (GRCm39) |
E418D |
probably benign |
Het |
| Rnf214 |
G |
T |
9: 45,778,886 (GRCm39) |
T586N |
probably damaging |
Het |
| Samd4b |
A |
G |
7: 28,101,285 (GRCm39) |
S667P |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,061,161 (GRCm39) |
Y100C |
probably damaging |
Het |
| Slc46a2 |
T |
C |
4: 59,914,077 (GRCm39) |
E282G |
probably benign |
Het |
| Themis |
A |
C |
10: 28,657,762 (GRCm39) |
N110T |
possibly damaging |
Het |
| Tln1 |
C |
A |
4: 43,543,165 (GRCm39) |
S1333I |
probably benign |
Het |
| Tmem53 |
T |
C |
4: 117,125,625 (GRCm39) |
V224A |
possibly damaging |
Het |
| Tmtc4 |
T |
A |
14: 123,163,391 (GRCm39) |
K664N |
possibly damaging |
Het |
| Tnni3k |
T |
C |
3: 154,674,922 (GRCm39) |
D201G |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,912,898 (GRCm39) |
E1681G |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,340,103 (GRCm39) |
D567E |
probably damaging |
Het |
| Tsc2 |
T |
C |
17: 24,828,101 (GRCm39) |
M788V |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,926,650 (GRCm39) |
Y476C |
probably damaging |
Het |
| Ubiad1 |
T |
C |
4: 148,520,682 (GRCm39) |
N314S |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,139,771 (GRCm39) |
N2375K |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,939 (GRCm39) |
I831F |
probably damaging |
Het |
| Vwa3b |
T |
A |
1: 37,124,367 (GRCm39) |
C322S |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,939,916 (GRCm39) |
H238Q |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,300,081 (GRCm39) |
Y210H |
probably damaging |
Het |
| Wwc2 |
T |
C |
8: 48,304,943 (GRCm39) |
D894G |
unknown |
Het |
| Yes1 |
T |
A |
5: 32,810,381 (GRCm39) |
F180Y |
probably damaging |
Het |
| Yju2b |
T |
C |
8: 84,985,318 (GRCm39) |
E317G |
probably benign |
Het |
| Zbtb46 |
T |
C |
2: 181,033,062 (GRCm39) |
Y533C |
probably damaging |
Het |
| Zfp57 |
T |
C |
17: 37,316,942 (GRCm39) |
S7P |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,802,090 (GRCm39) |
|
probably null |
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 |
|
|
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'- AAATACCTGCTCTTTCCTCAAGG -3'
(R):5'- GCAGCCAGTAGAGACTACAG -3'
Sequencing Primer
(F):5'- AGGCTTTAATTAGTATCTTTTCGGCC -3'
(R):5'- GCCAGTAGAGACTACAGTTACTATG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation