Mutagenetix > Incidental Mutation

Incidental Mutation 'R6083:Nktr'

482315

Institutional Source

Beutler Lab

Gene Symbol

Nktr

Ensembl Gene

ENSMUSG00000032525

Gene Name

natural killer tumor recognition sequence

Synonyms

D9Wsu172e, 5330401F18Rik

MMRRC Submission

044242-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.688) question?

Stock #

R6083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121548235-121585909 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 121579202 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: V1090A

SMART Domains

Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: V1090A

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: ENSMUST00000181325

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

probably benign
Transcript: ENSMUST00000182225

SMART Domains

Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525

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: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (76/79)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	A	11: 58,769,677 (GRCm39)	P73Q	possibly damaging	Het
Aak1	A	T	6: 86,940,978 (GRCm39)	I591F	unknown	Het
Ace	C	A	11: 105,876,093 (GRCm39)	Y816*	probably null	Het
Ahnak2	A	G	12: 112,746,715 (GRCm39)	V1205A	probably benign	Het
Ahnak2	T	G	12: 112,746,589 (GRCm39)	Q1076P	probably benign	Het
Ap2a1	G	A	7: 44,557,175 (GRCm39)	R263W	probably damaging	Het
Arhgap29	A	G	3: 121,786,397 (GRCm39)	T257A	probably benign	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Ccdc17	A	T	4: 116,454,123 (GRCm39)	Q47L	possibly damaging	Het
Cep170	C	T	1: 176,602,191 (GRCm39)	R305H	probably damaging	Het
Cyb5r4	C	T	9: 86,939,221 (GRCm39)	P335S	probably damaging	Het
Cyp2c54	A	G	19: 40,062,206 (GRCm39)	L17P	probably benign	Het
Cyp2c69	A	T	19: 39,837,900 (GRCm39)	V394E	probably damaging	Het
Dedd2	G	A	7: 24,910,715 (GRCm39)	P154S	probably benign	Het
Defb36	A	T	2: 152,446,408 (GRCm39)	M1L	unknown	Het
Dnaja1	A	G	4: 40,731,713 (GRCm39)	D263G	probably benign	Het
Dock10	T	C	1: 80,510,148 (GRCm39)	N1560S	probably damaging	Het
Efnb2	T	C	8: 8,672,328 (GRCm39)		probably null	Het
Eif3e	A	G	15: 43,129,540 (GRCm39)	I196T	probably damaging	Het
Ercc4	T	A	16: 12,927,903 (GRCm39)	C24*	probably null	Het
Fmn1	A	G	2: 113,194,648 (GRCm39)	E116G	unknown	Het
Gnas	A	G	2: 174,139,655 (GRCm39)	M1V	probably null	Het
Grin2a	C	A	16: 9,397,404 (GRCm39)	M894I	probably benign	Het
Herc2	G	T	7: 55,878,253 (GRCm39)	S4566I	probably benign	Het
Hmcn1	G	A	1: 150,631,044 (GRCm39)	P918L	probably damaging	Het
Hmcn1	G	T	1: 150,631,045 (GRCm39)	P918T	probably damaging	Het
Hsd3b2	T	A	3: 98,619,372 (GRCm39)	Y191F	possibly damaging	Het
Ifit1bl2	A	C	19: 34,597,217 (GRCm39)	F133C	possibly damaging	Het
Itih2	T	C	2: 10,113,705 (GRCm39)		probably benign	Het
Itsn1	T	C	16: 91,649,899 (GRCm39)	L191P	probably benign	Het
Kdr	T	C	5: 76,105,026 (GRCm39)	K1068R	probably damaging	Het
Lmtk2	T	C	5: 144,119,574 (GRCm39)	L1345P	probably damaging	Het
Man2b2	T	A	5: 36,966,385 (GRCm39)	D936V	probably damaging	Het
Mapk1ip1	G	A	7: 138,438,317 (GRCm39)	R38*	probably null	Het
Med13l	T	C	5: 118,859,551 (GRCm39)	V246A	possibly damaging	Het
Mlec	T	A	5: 115,286,108 (GRCm39)	T248S	probably benign	Het
Mslnl	T	A	17: 25,956,876 (GRCm39)	V54D	possibly damaging	Het
Muc16	G	A	9: 18,568,508 (GRCm39)	T1337I	unknown	Het
Nek7	C	T	1: 138,443,392 (GRCm39)	S187N	probably damaging	Het
Neto2	A	G	8: 86,367,214 (GRCm39)	V538A	probably benign	Het
Npy6r	A	G	18: 44,409,559 (GRCm39)	K327E	probably damaging	Het
Or2ag1	A	G	7: 106,472,789 (GRCm39)	I221T	probably damaging	Het
Or3a1c	A	G	11: 74,046,396 (GRCm39)	M139V	possibly damaging	Het
Or4a72	T	C	2: 89,406,016 (GRCm39)	D18G	probably benign	Het
Or4c123	T	A	2: 89,127,368 (GRCm39)	D82V	probably damaging	Het
Or5b109	A	T	19: 13,211,889 (GRCm39)	I92F	probably benign	Het
Pcdhga4	A	T	18: 37,820,478 (GRCm39)	N676Y	probably damaging	Het
Pde2a	T	C	7: 101,152,086 (GRCm39)	I331T	possibly damaging	Het
Pip5k1b	A	T	19: 24,281,399 (GRCm39)	Y486*	probably null	Het
Plch2	A	G	4: 155,085,275 (GRCm39)	M272T	probably benign	Het
Rbm12	G	A	2: 155,939,646 (GRCm39)		probably benign	Het
Rgs19	T	C	2: 181,331,300 (GRCm39)	E111G	probably damaging	Het
Rhbdf1	T	C	11: 32,160,066 (GRCm39)	N145S	probably damaging	Het
Rnf4	T	A	5: 34,508,565 (GRCm39)		probably null	Het
Rpa1	T	C	11: 75,205,737 (GRCm39)	T207A	probably damaging	Het
Rufy4	A	C	1: 74,168,556 (GRCm39)	Q113P	probably damaging	Het
Sh3pxd2b	T	G	11: 32,372,985 (GRCm39)	S717R	probably benign	Het
Sin3a	A	T	9: 57,014,824 (GRCm39)	I682F	probably damaging	Het
Sipa1l2	A	T	8: 126,195,212 (GRCm39)	V842E	possibly damaging	Het
Slc5a4a	A	G	10: 75,983,431 (GRCm39)	I23V	unknown	Het
Slitrk5	A	G	14: 111,919,157 (GRCm39)	N927S	probably benign	Het
Smc6	A	G	12: 11,326,354 (GRCm39)	K117R	possibly damaging	Het
Sod2	G	A	17: 13,226,918 (GRCm39)		probably benign	Het
Stxbp1	A	G	2: 32,686,030 (GRCm39)	I567T	possibly damaging	Het
Tbkbp1	C	A	11: 97,038,206 (GRCm39)	L209F	probably damaging	Het
Tll1	G	T	8: 64,491,620 (GRCm39)		probably null	Het
Tmem38b	T	C	4: 53,840,765 (GRCm39)	L60S	probably damaging	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Trim30b	A	G	7: 104,015,349 (GRCm39)	V13A	probably damaging	Het
Trip11	G	A	12: 101,856,001 (GRCm39)	T425I	probably benign	Het
Ttn	C	A	2: 76,720,317 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ush2a	T	A	1: 187,999,220 (GRCm39)	S177T	probably damaging	Het
Usp40	A	T	1: 87,906,281 (GRCm39)	S651R	probably benign	Het
Vmn1r125	T	C	7: 21,006,644 (GRCm39)	S181P	probably damaging	Het
Vmn1r198	T	A	13: 22,538,928 (GRCm39)	V138D	possibly damaging	Het
Vmn1r56	A	G	7: 5,199,317 (GRCm39)	L100P	probably damaging	Het
Vmn2r32	T	A	7: 7,467,209 (GRCm39)	D773V	probably benign	Het
Vmn2r53	A	C	7: 12,315,808 (GRCm39)	H670Q	probably benign	Het
Vmn2r69	A	T	7: 85,055,711 (GRCm39)	I809N	probably damaging	Het
Wdr7	G	A	18: 63,861,540 (GRCm39)	G184D	probably damaging	Het
Wnk1	C	T	6: 120,014,562 (GRCm39)	G11D	probably damaging	Het
Zfp110	A	C	7: 12,578,602 (GRCm39)	E171A	possibly damaging	Het
Zkscan6	T	C	11: 65,706,757 (GRCm39)	V134A	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
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'- CACTCGAGTTTGGTGACGATG -3'
(R):5'- CTAGCCTGTGGTTTGCTAAAGG -3'

Posted On

2017-07-14