Mutagenetix > Incidental Mutation

Incidental Mutation 'R4736:Nktr'

359266

Institutional Source

Beutler Lab

Gene Symbol

Nktr

Ensembl Gene

ENSMUSG00000032525

Gene Name

natural killer tumor recognition sequence

Synonyms

D9Wsu172e, 5330401F18Rik

MMRRC Submission

041963-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R4736 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121548235-121585909 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 121578805 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: S958T

SMART Domains

Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: S958T

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

unknown
Transcript: ENSMUST00000182225
AA Change: S933T

SMART Domains

Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: S933T

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.4%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,246 (GRCm39)	I1145T	probably damaging	Het
Aadat	T	C	8: 60,993,140 (GRCm39)	V360A	probably benign	Het
Abhd16a	A	T	17: 35,320,859 (GRCm39)	T436S	probably benign	Het
Acbd5	G	T	2: 22,989,596 (GRCm39)	L406F	probably damaging	Het
Agrn	G	A	4: 156,256,858 (GRCm39)	T1142M	probably benign	Het
Aig1	C	A	10: 13,677,674 (GRCm39)	W106L	probably damaging	Het
Akr1d1	T	C	6: 37,534,535 (GRCm39)		probably null	Het
Ap1g1	G	A	8: 110,581,714 (GRCm39)	D658N	possibly damaging	Het
Arhgap45	A	G	10: 79,862,006 (GRCm39)	Y520C	probably damaging	Het
Arhgap5	A	T	12: 52,565,860 (GRCm39)	M944L	probably benign	Het
Asic5	C	T	3: 81,907,116 (GRCm39)	T47I	possibly damaging	Het
Cabp5	A	G	7: 13,134,664 (GRCm39)		probably null	Het
Ccr6	A	T	17: 8,474,896 (GRCm39)	R34*	probably null	Het
Cdin1	A	G	2: 115,412,369 (GRCm39)	I2V	probably benign	Het
Clec4a2	T	C	6: 123,117,622 (GRCm39)	I180T	probably damaging	Het
Cmtr1	A	G	17: 29,919,216 (GRCm39)	E704G	possibly damaging	Het
Cyth3	G	A	5: 143,670,234 (GRCm39)		probably null	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Dennd6b	T	C	15: 89,069,795 (GRCm39)	H468R	probably benign	Het
Depdc5	A	G	5: 33,132,666 (GRCm39)	M1237V	probably benign	Het
Dpp6	A	G	5: 27,917,657 (GRCm39)	Y616C	probably damaging	Het
Dync2h1	A	T	9: 7,006,862 (GRCm39)	S3710T	probably benign	Het
Eif4g3	T	A	4: 137,925,408 (GRCm39)	S1584T	probably benign	Het
Emc3	G	A	6: 113,508,310 (GRCm39)	T45I	possibly damaging	Het
Esf1	T	A	2: 139,966,891 (GRCm39)	D685V	probably damaging	Het
Ezr	A	G	17: 7,008,975 (GRCm39)	S366P	probably benign	Het
Gbe1	C	T	16: 70,292,141 (GRCm39)	A491V	probably damaging	Het
Haus6	A	G	4: 86,518,986 (GRCm39)		probably null	Het
Heca	G	A	10: 17,790,935 (GRCm39)	Q12*	probably null	Het
Hpdl	T	C	4: 116,678,221 (GRCm39)	N80S	probably damaging	Het
Hydin	A	T	8: 111,249,840 (GRCm39)	Q2261L	probably benign	Het
Itgae	G	T	11: 73,005,706 (GRCm39)	R290L	possibly damaging	Het
Kcna10	C	A	3: 107,102,808 (GRCm39)	L480I	probably benign	Het
Kif27	T	C	13: 58,476,785 (GRCm39)	T622A	probably benign	Het
Lama2	T	C	10: 27,080,925 (GRCm39)	N966S	probably damaging	Het
Mdfic	A	G	6: 15,741,019 (GRCm39)	K38E	possibly damaging	Het
Med25	G	A	7: 44,541,712 (GRCm39)	A26V	probably damaging	Het
Mrpl19	A	T	6: 81,941,329 (GRCm39)	S77R	probably damaging	Het
Mtcl2	T	A	2: 156,862,474 (GRCm39)	D1485V	probably damaging	Het
Mybpc2	T	C	7: 44,161,971 (GRCm39)	D493G	probably damaging	Het
Myh4	A	G	11: 67,131,746 (GRCm39)	T69A	probably benign	Het
Myo16	G	T	8: 10,423,527 (GRCm39)	G288W	probably damaging	Het
Myo9b	T	C	8: 71,809,236 (GRCm39)	L1815P	probably damaging	Het
Myom2	T	A	8: 15,131,271 (GRCm39)	L323Q	probably damaging	Het
Naip1	T	C	13: 100,581,034 (GRCm39)	D71G	possibly damaging	Het
Nol10	A	G	12: 17,405,288 (GRCm39)	K88E	probably damaging	Het
Nol4	T	C	18: 22,852,050 (GRCm39)	D505G	probably damaging	Het
Nynrin	T	A	14: 56,101,454 (GRCm39)	N374K	probably damaging	Het
Obscn	A	T	11: 58,954,362 (GRCm39)	L3740Q	probably damaging	Het
Or5g23	T	C	2: 85,438,327 (GRCm39)	H309R	probably benign	Het
Otub2	T	A	12: 103,359,103 (GRCm39)	L64Q	probably benign	Het
Pgm5	G	A	19: 24,812,169 (GRCm39)	A121V	probably damaging	Het
Pi4ka	A	T	16: 17,195,039 (GRCm39)	Y120N	probably benign	Het
Rpl36al	G	A	12: 69,229,732 (GRCm39)	A60V	possibly damaging	Het
Rspo4	T	C	2: 151,685,054 (GRCm39)	Y21H	probably benign	Het
Scube2	A	G	7: 109,430,412 (GRCm39)	V455A	probably benign	Het
Serpina1f	T	C	12: 103,659,805 (GRCm39)	D159G	probably damaging	Het
Sf1	A	G	19: 6,415,694 (GRCm39)	D11G	probably damaging	Het
Siglecg	T	C	7: 43,067,332 (GRCm39)	F633S	probably benign	Het
Skic2	A	G	17: 35,067,173 (GRCm39)	S89P	possibly damaging	Het
Slc22a13	T	C	9: 119,022,698 (GRCm39)	E501G	probably damaging	Het
Slc44a3	A	G	3: 121,303,855 (GRCm39)	S294P	probably damaging	Het
Smad3	T	G	9: 63,664,842 (GRCm39)	K40Q	probably damaging	Het
Stt3a	T	A	9: 36,661,008 (GRCm39)	M268L	probably benign	Het
Taf4	A	T	2: 179,566,287 (GRCm39)	V817E	probably damaging	Het
Tgfbr1	A	G	4: 47,383,835 (GRCm39)	T58A	probably benign	Het
Trpc6	T	C	9: 8,609,871 (GRCm39)	V113A	probably damaging	Het
Ttll13	T	A	7: 79,898,024 (GRCm39)		probably null	Het
Uba7	T	C	9: 107,857,364 (GRCm39)	L742P	probably benign	Het
Ulk2	A	G	11: 61,724,261 (GRCm39)	L174P	probably damaging	Het
Unc5c	A	T	3: 141,522,692 (GRCm39)	Y706F	probably benign	Het
Unc80	A	T	1: 66,688,831 (GRCm39)		probably null	Het
Usp34	T	A	11: 23,343,749 (GRCm39)		probably null	Het
Vmn1r71	A	T	7: 10,481,791 (GRCm39)	V233D	possibly damaging	Het
Xpo6	T	C	7: 125,739,755 (GRCm39)	K439R	probably benign	Het
Xrn1	G	T	9: 95,915,689 (GRCm39)	G1271C	probably damaging	Het
Yes1	A	T	5: 32,818,121 (GRCm39)	E386V	probably damaging	Het
Zfp759	C	A	13: 67,287,408 (GRCm39)	H320N	probably damaging	Het
Zfp990	A	T	4: 145,263,512 (GRCm39)	H170L	possibly 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
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'- TGGGATTCGGAATCAAACTCAG -3'
(R):5'- TCGTCACCAAACTCGAGTGG -3'

Sequencing Primer
(F):5'- AAGTGATCCCCGGAGAGGTTC -3'
(R):5'- AACTCGAGTGGAGGTTGCC -3'

Posted On

2015-11-11