Mutagenetix > Incidental Mutation

Incidental Mutation 'R6005:Nktr'

479430

Institutional Source

Beutler Lab

Gene Symbol

Nktr

Ensembl Gene

ENSMUSG00000032525

Gene Name

natural killer tumor recognition sequence

Synonyms

D9Wsu172e, 5330401F18Rik

MMRRC Submission

044425-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R6005 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121548235-121585909 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 121577460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035112] [ENSMUST00000182179] [ENSMUST00000182225] [ENSMUST00000182503]

AlphaFold

P30415

Predicted Effect

unknown
Transcript: ENSMUST00000035112
AA Change: S509R

SMART Domains

Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: S509R

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: ENSMUST00000182076

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

unknown
Transcript: ENSMUST00000182225
AA Change: S484R

SMART Domains

Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: S484R

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: ENSMUST00000182503

SMART Domains

Protein: ENSMUSP00000138463
Gene: ENSMUSG00000032525

Domain	Start	End	E-Value	Type
low complexity region	10	85	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182607

Predicted Effect

probably benign
Transcript: ENSMUST00000182713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213351

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 90.9%

Validation Efficiency

99% (79/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	A	T	15: 85,378,310 (GRCm39)	I111N	unknown	Het
Adgb	C	T	10: 10,271,096 (GRCm39)	R849H	probably damaging	Het
Ahnak	T	C	19: 8,992,525 (GRCm39)	V4603A	possibly damaging	Het
Ank1	A	G	8: 23,622,218 (GRCm39)	D1589G	probably damaging	Het
Ankrd2	A	G	19: 42,028,554 (GRCm39)	D70G	probably damaging	Het
Arid2	T	C	15: 96,268,853 (GRCm39)	S989P	probably benign	Het
Bbs1	A	T	19: 4,953,823 (GRCm39)	Y113*	probably null	Het
Bfsp2	T	G	9: 103,325,749 (GRCm39)	K298T	probably damaging	Het
Bpi	G	A	2: 158,104,400 (GRCm39)	V168I	possibly damaging	Het
Cacna2d1	T	C	5: 16,566,819 (GRCm39)	S921P	probably damaging	Het
Clec4d	A	C	6: 123,244,118 (GRCm39)	T76P	probably damaging	Het
Coq8b	C	T	7: 26,956,750 (GRCm39)	Q468*	probably null	Het
Dennd6b	T	C	15: 89,072,371 (GRCm39)	E248G	possibly damaging	Het
Ednra	A	G	8: 78,401,556 (GRCm39)	S245P	possibly damaging	Het
Epb41l4a	C	T	18: 33,961,196 (GRCm39)	C446Y	probably benign	Het
Fam221a	A	G	6: 49,344,756 (GRCm39)		probably benign	Het
Fam229a	T	C	4: 129,385,296 (GRCm39)	S76P	probably benign	Het
Fryl	C	T	5: 73,240,638 (GRCm39)	D1321N	probably damaging	Het
Gata3os	T	C	2: 9,887,638 (GRCm39)		probably benign	Het
Gli2	C	T	1: 118,769,794 (GRCm39)	R586H	probably damaging	Het
Gm94	C	T	18: 43,925,862 (GRCm39)	A16T	possibly damaging	Het
Gorasp2	T	C	2: 70,521,095 (GRCm39)	V355A	probably benign	Het
Grid1	C	A	14: 35,045,369 (GRCm39)	T404N	probably damaging	Het
Gtf2i	C	A	5: 134,284,812 (GRCm39)	E475*	probably null	Het
Gucy1a2	T	C	9: 3,865,518 (GRCm39)		probably null	Het
Hs3st5	T	A	10: 36,708,924 (GRCm39)	I153N	probably damaging	Het
Il11ra1	T	C	4: 41,763,887 (GRCm39)		probably null	Het
Ireb2	G	A	9: 54,816,089 (GRCm39)	G887S	probably damaging	Het
Kdsr	T	C	1: 106,662,311 (GRCm39)	E248G	probably benign	Het
Lemd2	C	G	17: 27,409,759 (GRCm39)	R464P	probably damaging	Het
Lrrfip1	T	C	1: 91,042,333 (GRCm39)	V246A	probably damaging	Het
Macf1	T	A	4: 123,368,068 (GRCm39)	D2231V	possibly damaging	Het
Map2k5	C	T	9: 63,188,301 (GRCm39)	D283N	probably damaging	Het
Mfsd5	A	G	15: 102,189,927 (GRCm39)	D433G	possibly damaging	Het
Mir700	C	A	4: 135,139,618 (GRCm39)		probably null	Het
Mroh9	A	T	1: 162,903,246 (GRCm39)	F52L	probably damaging	Het
Mtrfr	G	T	5: 124,478,837 (GRCm39)	E153*	probably null	Het
Mycbp2	A	C	14: 103,394,159 (GRCm39)	S2691A	probably benign	Het
Myorg	T	A	4: 41,498,895 (GRCm39)	H245L	probably benign	Het
Obsl1	C	A	1: 75,468,859 (GRCm39)		probably null	Het
Or10ag60	A	T	2: 87,438,424 (GRCm39)	I231F	probably damaging	Het
Or52r1b	A	T	7: 102,690,853 (GRCm39)	I51F	probably damaging	Het
Or5aq7	A	G	2: 86,938,407 (GRCm39)	V108A	probably benign	Het
Or7g35	C	T	9: 19,496,181 (GRCm39)	T116I	probably benign	Het
Or8c11	T	C	9: 38,289,605 (GRCm39)	S137P	probably damaging	Het
Pcdhb22	T	A	18: 37,652,789 (GRCm39)	I162N	possibly damaging	Het
Pde1c	A	T	6: 56,456,187 (GRCm39)		probably null	Het
Pds5b	A	G	5: 150,693,241 (GRCm39)		probably null	Het
Pkd1l1	A	C	11: 8,807,113 (GRCm39)	W1568G	probably damaging	Het
Polr3c	A	T	3: 96,626,784 (GRCm39)	M258K	possibly damaging	Het
Pramel23	T	A	4: 143,425,002 (GRCm39)	H147L	probably benign	Het
Prss12	A	T	3: 123,276,417 (GRCm39)	I349F	probably benign	Het
Ptpn21	A	G	12: 98,644,811 (GRCm39)	*1177Q	probably null	Het
Rgs22	T	A	15: 36,010,713 (GRCm39)	K1125M	probably benign	Het
Rnf182	A	G	13: 43,821,511 (GRCm39)	K21E	probably damaging	Het
Rpl6	G	A	5: 121,343,577 (GRCm39)		probably benign	Het
Samsn1	C	T	16: 75,670,402 (GRCm39)	V234I	probably benign	Het
Scrib	A	G	15: 75,929,600 (GRCm39)	I1089T	probably damaging	Het
Sec31a	T	C	5: 100,511,737 (GRCm39)	T1092A	probably damaging	Het
Sh3bp2	G	T	5: 34,719,809 (GRCm39)	R606L	possibly damaging	Het
Sipa1	A	G	19: 5,706,229 (GRCm39)	V367A	probably damaging	Het
Slc25a44	C	T	3: 88,320,153 (GRCm39)	E269K	probably damaging	Het
Slc44a4	T	A	17: 35,142,430 (GRCm39)	M353K	possibly damaging	Het
Sorcs2	A	G	5: 36,176,728 (GRCm39)	S1142P	probably damaging	Het
Sptbn4	A	G	7: 27,118,024 (GRCm39)	F352L	probably damaging	Het
Synj1	A	T	16: 90,766,174 (GRCm39)	N541K	probably damaging	Het
Tas2r113	G	A	6: 132,870,659 (GRCm39)	R229K	probably benign	Het
Tcaf3	A	T	6: 42,566,905 (GRCm39)	I728K	probably benign	Het
Tcea1	A	G	1: 4,960,996 (GRCm39)	E167G	probably benign	Het
Timeless	G	A	10: 128,080,069 (GRCm39)	R406H	probably damaging	Het
Traf6	C	T	2: 101,527,029 (GRCm39)	R260*	probably null	Het
Traj31	C	T	14: 54,425,388 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,599,907 (GRCm39)	V19089D	probably damaging	Het
Unc80	C	T	1: 66,666,416 (GRCm39)	S1868L	possibly damaging	Het
Wdr38	A	T	2: 38,891,333 (GRCm39)	I287F	possibly damaging	Het
Wnt2	G	A	6: 18,030,322 (GRCm39)		probably benign	Het
Wnt5b	G	A	6: 119,410,615 (GRCm39)	P288L	probably benign	Het
Xkr5	G	T	8: 18,984,521 (GRCm39)	N174K	probably benign	Het
Zbtb6	C	T	2: 37,318,977 (GRCm39)	R317Q	probably damaging	Het
Zcchc7	AGGGG	AGGG	4: 44,931,218 (GRCm39)		probably null	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	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
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'- GAGACACTCTGATGGTCACC -3'
(R):5'- ATTTTCACTCAGCTGAGCAGG -3'

Sequencing Primer
(F):5'- GAGACACTCTGATGGTCACCATAAG -3'
(R):5'- GTCCTGACCTGGAACTAGAT -3'

Posted On

2017-06-26