Incidental Mutation 'R6960:Nktr'
ID |
541711 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nktr
|
Ensembl Gene |
ENSMUSG00000032525 |
Gene Name |
natural killer tumor recognition sequence |
Synonyms |
D9Wsu172e, 5330401F18Rik |
MMRRC Submission |
045070-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.620)
|
Stock # |
R6960 (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 A
at 121571758 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 226
(H226Q)
|
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: H226Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000035112 Gene: ENSMUSG00000032525 AA Change: H226Q
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 |
possibly damaging
Transcript: ENSMUST00000182225
AA Change: H201Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000138168 Gene: ENSMUSG00000032525 AA Change: H201Q
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
|
SMART Domains |
Protein: ENSMUSP00000138690 Gene: ENSMUSG00000032525
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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
98% (50/51) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
C |
4: 53,072,924 (GRCm39) |
D1170G |
probably benign |
Het |
Ak7 |
A |
T |
12: 105,676,503 (GRCm39) |
T68S |
probably benign |
Het |
Arhgap12 |
A |
T |
18: 6,111,901 (GRCm39) |
N26K |
probably damaging |
Het |
B3galt1 |
A |
T |
2: 67,949,033 (GRCm39) |
E249D |
probably damaging |
Het |
Catsper4 |
T |
A |
4: 133,954,648 (GRCm39) |
M1L |
probably benign |
Het |
Cc2d2b |
T |
C |
19: 40,773,506 (GRCm39) |
V523A |
possibly damaging |
Het |
Ccn4 |
C |
T |
15: 66,791,047 (GRCm39) |
T283M |
probably benign |
Het |
Cyp11a1 |
T |
C |
9: 57,925,659 (GRCm39) |
F98S |
probably damaging |
Het |
Cyp2d26 |
T |
C |
15: 82,674,446 (GRCm39) |
S479G |
probably damaging |
Het |
Dclre1a |
T |
G |
19: 56,531,141 (GRCm39) |
Y735S |
probably damaging |
Het |
Dio2 |
C |
T |
12: 90,696,671 (GRCm39) |
G106R |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,815,273 (GRCm39) |
|
probably benign |
Het |
Ehhadh |
C |
A |
16: 21,581,028 (GRCm39) |
V655L |
probably benign |
Het |
Ercc2 |
G |
A |
7: 19,127,615 (GRCm39) |
R379Q |
probably damaging |
Het |
Fabp4 |
A |
G |
3: 10,273,537 (GRCm39) |
V12A |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,223,980 (GRCm39) |
I590V |
probably benign |
Het |
Grm8 |
C |
A |
6: 27,981,281 (GRCm39) |
V210L |
probably damaging |
Het |
Jakmip3 |
A |
G |
7: 138,625,065 (GRCm39) |
D359G |
probably damaging |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Ly75 |
A |
T |
2: 60,136,749 (GRCm39) |
Y1493N |
probably benign |
Het |
Lyst |
A |
G |
13: 13,808,663 (GRCm39) |
N111S |
probably benign |
Het |
Lyz2 |
G |
C |
10: 117,114,607 (GRCm39) |
I107M |
possibly damaging |
Het |
Mgat5 |
A |
T |
1: 127,248,371 (GRCm39) |
D91V |
possibly damaging |
Het |
Mical3 |
T |
A |
6: 120,935,504 (GRCm39) |
D1674V |
probably damaging |
Het |
Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
Naa16 |
A |
G |
14: 79,596,911 (GRCm39) |
Y358H |
possibly damaging |
Het |
Ocln |
T |
G |
13: 100,635,380 (GRCm39) |
K503T |
possibly damaging |
Het |
Olfm4 |
T |
C |
14: 80,258,754 (GRCm39) |
L301S |
probably damaging |
Het |
Or4f4b |
G |
A |
2: 111,314,071 (GRCm39) |
V127I |
possibly damaging |
Het |
Or6c74 |
T |
C |
10: 129,869,972 (GRCm39) |
L159P |
probably benign |
Het |
Paqr4 |
G |
A |
17: 23,956,697 (GRCm39) |
A222V |
probably benign |
Het |
Pcdhb13 |
A |
G |
18: 37,576,509 (GRCm39) |
T296A |
probably benign |
Het |
Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,474,707 (GRCm39) |
V309A |
probably damaging |
Het |
Ptger4 |
T |
C |
15: 5,264,196 (GRCm39) |
R462G |
probably benign |
Het |
Ptprc |
C |
T |
1: 138,006,183 (GRCm39) |
|
probably null |
Het |
Rabggta |
A |
C |
14: 55,959,299 (GRCm39) |
|
probably null |
Het |
Rnf25 |
A |
G |
1: 74,634,403 (GRCm39) |
S207P |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Rtf1 |
A |
G |
2: 119,541,559 (GRCm39) |
Q264R |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,816,129 (GRCm39) |
V619A |
probably benign |
Het |
Serpinb6d |
A |
G |
13: 33,855,181 (GRCm39) |
N285S |
probably benign |
Het |
Slamf6 |
A |
G |
1: 171,745,320 (GRCm39) |
M16V |
probably damaging |
Het |
Slc22a23 |
A |
G |
13: 34,528,140 (GRCm39) |
|
probably null |
Het |
Slc23a2 |
T |
C |
2: 131,933,173 (GRCm39) |
D95G |
probably damaging |
Het |
Smc3 |
T |
C |
19: 53,617,802 (GRCm39) |
Y600H |
probably damaging |
Het |
Tarbp1 |
G |
A |
8: 127,155,778 (GRCm39) |
T1320M |
possibly damaging |
Het |
Tigd4 |
A |
T |
3: 84,501,423 (GRCm39) |
K113N |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 64,952,763 (GRCm39) |
F1444I |
possibly damaging |
Het |
Tstd3 |
A |
T |
4: 21,767,118 (GRCm39) |
M1K |
probably null |
Het |
Zbtb46 |
T |
C |
2: 181,065,217 (GRCm39) |
D311G |
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 |
|
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'- GTGTGTACTGGGCTCAAGTAC -3'
(R):5'- CCACTCCTCGATTGTTACAGGG -3'
Sequencing Primer
(F):5'- CAACCTGTTCAGAAGGCT -3'
(R):5'- ACTCCTCGATTGTTACAGGGATCAG -3'
|
Posted On |
2018-11-28 |