Mutagenetix > Incidental Mutation

Incidental Mutation 'R1912:Nktr'

210414

Institutional Source

Beutler Lab

Gene Symbol

Nktr

Ensembl Gene

ENSMUSG00000032525

Gene Name

natural killer tumor recognition sequence

Synonyms

D9Wsu172e, 5330401F18Rik

MMRRC Submission

039930-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R1912 (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 121579306 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: C1125S

SMART Domains

Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: C1125S

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

noncoding transcript
Transcript: ENSMUST00000213351

Predicted Effect

probably benign
Transcript: ENSMUST00000182713

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,288,582 (GRCm39)	M132V	probably benign	Het
4921524L21Rik	T	A	18: 6,620,205 (GRCm39)	I45N	possibly damaging	Het
Abcb6	A	G	1: 75,156,599 (GRCm39)	V55A	probably benign	Het
Adam28	A	T	14: 68,881,780 (GRCm39)	D105E	probably benign	Het
Ahnak	T	C	19: 8,995,245 (GRCm39)	S5510P	probably damaging	Het
Aldh3b1	T	G	19: 3,971,187 (GRCm39)	D159A	probably damaging	Het
Alx1	A	G	10: 102,861,222 (GRCm39)	L102P	probably damaging	Het
Ankrd50	C	T	3: 38,510,925 (GRCm39)	V481I	probably benign	Het
Aox4	G	T	1: 58,303,561 (GRCm39)	G1200W	probably damaging	Het
Arhgap45	A	C	10: 79,856,524 (GRCm39)	D24A	probably benign	Het
Arhgef16	A	T	4: 154,364,780 (GRCm39)		probably null	Het
Asic4	A	T	1: 75,445,876 (GRCm39)	Y235F	possibly damaging	Het
Asph	T	C	4: 9,453,335 (GRCm39)	E646G	probably damaging	Het
Atg4d	A	G	9: 21,183,935 (GRCm39)	D350G	probably damaging	Het
Auts2	T	C	5: 131,472,412 (GRCm39)	T347A	probably damaging	Het
Bsnd	A	T	4: 106,345,227 (GRCm39)	L73*	probably null	Het
Cachd1	A	T	4: 100,810,366 (GRCm39)	S323C	probably damaging	Het
Cacna1e	A	G	1: 154,312,195 (GRCm39)	I1290T	probably damaging	Het
Cdh8	T	A	8: 99,825,502 (GRCm39)	N498Y	probably damaging	Het
Cdkn3	A	G	14: 47,007,291 (GRCm39)		probably null	Het
Celf2	A	T	2: 6,620,564 (GRCm39)	M40K	probably damaging	Het
Cfap57	A	C	4: 118,472,207 (GRCm39)	S57R	probably damaging	Het
Cfh	A	G	1: 140,063,879 (GRCm39)		probably null	Het
Chdh	A	G	14: 29,754,745 (GRCm39)	S252G	probably benign	Het
Col8a1	T	A	16: 57,448,287 (GRCm39)	I408F	unknown	Het
Corin	C	T	5: 72,515,746 (GRCm39)	C303Y	probably damaging	Het
Crlf2	C	T	5: 109,705,007 (GRCm39)	C66Y	possibly damaging	Het
Csmd1	C	T	8: 16,284,012 (GRCm39)		probably null	Het
Cyp4f16	T	C	17: 32,764,018 (GRCm39)	V270A	probably damaging	Het
Defa29	T	A	8: 21,816,028 (GRCm39)	H113L	possibly damaging	Het
Dhx35	A	T	2: 158,684,227 (GRCm39)	N501Y	probably damaging	Het
Dipk1b	A	G	2: 26,522,716 (GRCm39)	E55G	probably damaging	Het
Dst	A	G	1: 34,330,931 (GRCm39)	R4690G	probably damaging	Het
Elac2	T	A	11: 64,885,089 (GRCm39)	D439E	probably benign	Het
Ercc6	A	G	14: 32,298,760 (GRCm39)	R1383G	probably damaging	Het
Fat3	T	A	9: 15,881,284 (GRCm39)	Y3196F	probably damaging	Het
Fbxw13	A	T	9: 109,010,611 (GRCm39)	D342E	probably benign	Het
Fmod	A	G	1: 133,968,458 (GRCm39)	N166S	possibly damaging	Het
Folh1	A	G	7: 86,412,175 (GRCm39)	S199P	possibly damaging	Het
Fv1	A	G	4: 147,954,235 (GRCm39)	N267S	possibly damaging	Het
Fyn	T	C	10: 39,402,828 (GRCm39)	V200A	possibly damaging	Het
Gfus	A	T	15: 75,797,498 (GRCm39)	D278E	possibly damaging	Het
Ggnbp2	T	C	11: 84,753,122 (GRCm39)	N39S	probably benign	Het
Gm10509	A	T	17: 21,909,831 (GRCm39)	I53F	possibly damaging	Het
Gpr139	A	T	7: 118,744,102 (GRCm39)	I161N	possibly damaging	Het
Grhl2	C	T	15: 37,358,651 (GRCm39)	T148I	probably damaging	Het
Hmcn1	C	A	1: 150,480,633 (GRCm39)	M4514I	probably benign	Het
Igsf10	T	G	3: 59,236,993 (GRCm39)	T1063P	probably benign	Het
Itgav	A	G	2: 83,625,830 (GRCm39)	Y792C	possibly damaging	Het
Itgb2l	T	C	16: 96,228,135 (GRCm39)	Q456R	probably benign	Het
Jph4	G	A	14: 55,345,818 (GRCm39)	A613V	probably benign	Het
Kcna2	A	G	3: 107,012,717 (GRCm39)	T433A	probably benign	Het
Kmt2e	A	G	5: 23,697,393 (GRCm39)	K97R	probably benign	Het
Krba1	C	A	6: 48,392,699 (GRCm39)	A871E	probably benign	Het
Loxhd1	T	C	18: 77,427,833 (GRCm39)	F468L	probably benign	Het
Lpin1	A	G	12: 16,596,728 (GRCm39)	V713A	probably damaging	Het
Ltbp2	T	A	12: 84,832,637 (GRCm39)	I67F	probably damaging	Het
Mdc1	G	A	17: 36,155,430 (GRCm39)	R35H	probably benign	Het
Mdc1	A	G	17: 36,161,703 (GRCm39)	D872G	probably benign	Het
Mgam	C	T	6: 40,741,119 (GRCm39)	Q959*	probably null	Het
Mttp	T	A	3: 137,821,788 (GRCm39)	T260S	probably benign	Het
Naalad2	A	T	9: 18,287,831 (GRCm39)	D266E	probably benign	Het
Nans	T	A	4: 46,500,162 (GRCm39)	L182H	probably damaging	Het
Nbas	T	A	12: 13,616,145 (GRCm39)	C2228S	probably benign	Het
Nfix	A	T	8: 85,448,306 (GRCm39)	V407E	probably damaging	Het
Nlrp10	G	A	7: 108,524,602 (GRCm39)	R293*	probably null	Het
Nrxn3	T	C	12: 88,762,112 (GRCm39)	F53S	probably damaging	Het
Or11h4	G	A	14: 50,974,235 (GRCm39)	P128L	probably damaging	Het
Or12e7	T	C	2: 87,287,727 (GRCm39)	S73P	probably damaging	Het
Or1e21	A	T	11: 73,344,820 (GRCm39)	F73I	probably damaging	Het
Or2f2	T	C	6: 42,767,411 (GRCm39)	I146T	probably benign	Het
Or3a1c	T	C	11: 74,046,711 (GRCm39)	C244R	probably damaging	Het
Or5ak24	T	A	2: 85,260,604 (GRCm39)	N190Y	probably damaging	Het
Or5p68	A	G	7: 107,946,014 (GRCm39)	L58P	probably damaging	Het
Or6d12	A	G	6: 116,492,950 (GRCm39)	T71A	probably benign	Het
Oxld1	A	G	11: 120,347,732 (GRCm39)	V155A	probably damaging	Het
Pamr1	T	A	2: 102,472,645 (GRCm39)	F648Y	probably damaging	Het
Parg	T	C	14: 31,932,497 (GRCm39)	W446R	probably damaging	Het
Pate13	A	T	9: 35,819,915 (GRCm39)	T23S	probably benign	Het
Phf3	A	T	1: 30,843,426 (GRCm39)	H1844Q	probably damaging	Het
Phf7	T	C	14: 30,962,281 (GRCm39)	I175V	possibly damaging	Het
Pibf1	G	A	14: 99,425,245 (GRCm39)		probably null	Het
Plcxd1	A	G	5: 110,251,308 (GRCm39)	I295V	probably benign	Het
Pole2	A	C	12: 69,256,764 (GRCm39)	Y254D	probably damaging	Het
Ppm1e	T	A	11: 87,135,196 (GRCm39)	I225F	probably benign	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Resf1	T	A	6: 149,230,342 (GRCm39)	D1129E	possibly damaging	Het
Rnase2b	T	G	14: 51,400,357 (GRCm39)	V146G	probably damaging	Het
Rnf169	G	A	7: 99,575,461 (GRCm39)	T378I	probably damaging	Het
Rpf2	A	G	10: 40,112,197 (GRCm39)	F80L	probably benign	Het
Sec11c	T	A	18: 65,947,945 (GRCm39)	D128E	probably damaging	Het
Septin12	A	G	16: 4,806,417 (GRCm39)	V248A	probably damaging	Het
Serinc1	T	C	10: 57,401,547 (GRCm39)	N82S	probably benign	Het
Serpina9	A	C	12: 103,967,508 (GRCm39)	W296G	probably damaging	Het
Sgo2b	A	C	8: 64,384,503 (GRCm39)	D164E	probably damaging	Het
Slc15a3	A	G	19: 10,825,977 (GRCm39)	N223D	probably damaging	Het
Slc44a3	A	G	3: 121,325,815 (GRCm39)	Y12H	probably benign	Het
Slco3a1	A	G	7: 74,154,359 (GRCm39)	F42S	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Snx7	A	T	3: 117,623,317 (GRCm39)		probably null	Het
Sorl1	A	T	9: 41,993,246 (GRCm39)	D259E	probably damaging	Het
Stpg2	G	A	3: 139,228,742 (GRCm39)		probably null	Het
Strn	T	A	17: 78,991,824 (GRCm39)	Y165F	probably damaging	Het
Sval2	T	A	6: 41,841,254 (GRCm39)	*106R	probably null	Het
Tcaf3	A	G	6: 42,573,622 (GRCm39)	S197P	possibly damaging	Het
Tespa1	C	A	10: 130,190,592 (GRCm39)	T73N	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Thoc5	C	A	11: 4,865,561 (GRCm39)	T380K	probably benign	Het
Tmprss7	T	A	16: 45,476,911 (GRCm39)	R784*	probably null	Het
Trank1	A	T	9: 111,219,777 (GRCm39)	L2171F	probably benign	Het
Trpm2	T	G	10: 77,781,710 (GRCm39)	K303T	probably benign	Het
Unc80	G	A	1: 66,549,784 (GRCm39)	V681M	probably damaging	Het
Usp40	A	G	1: 87,874,368 (GRCm39)	F1131L	probably benign	Het
Vmn1r215	A	T	13: 23,260,673 (GRCm39)	I238F	possibly damaging	Het
Vwa3a	A	T	7: 120,394,850 (GRCm39)	Y890F	probably damaging	Het
Zdhhc18	A	G	4: 133,341,171 (GRCm39)	L234P	probably damaging	Het
Zfp109	A	G	7: 23,927,676 (GRCm39)	S578P	probably damaging	Het
Zfp704	T	C	3: 9,674,418 (GRCm39)	D121G	unknown	Het
Zgrf1	G	T	3: 127,356,786 (GRCm39)	V671L	probably benign	Het
Zkscan8	A	T	13: 21,704,927 (GRCm39)	C265*	probably null	Het
Zscan26	T	C	13: 21,629,310 (GRCm39)	I398V	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
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
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'- TTCCAAACGTCGAGAAAACCTG -3'
(R):5'- ACCCAAGGTCTTGCTTTCAG -3'

Sequencing Primer
(F):5'- AACCTGTGATGAAGGCAGTTCTCC -3'
(R):5'- AAGGTCTTGCTTTCAGACATGC -3'

Posted On

2014-06-30