Mutagenetix > Incidental Mutation

Incidental Mutation 'R5587:Nktr'

438829

Institutional Source

Beutler Lab

Gene Symbol

Nktr

Ensembl Gene

ENSMUSG00000032525

Gene Name

natural killer tumor recognition sequence

Synonyms

5330401F18Rik, D9Wsu172e

MMRRC Submission

043141-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.541) question?

Stock #

R5587 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121719169-121756843 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 121748489 bp (GRCm38)

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: S541F

SMART Domains

Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: S541F

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: S516F

SMART Domains

Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: S516F

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

0.1719

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

96% (78/81)

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	A	G	3: 138,065,409 (GRCm38)	R120G	probably benign	Het
Acad11	A	G	9: 104,063,767 (GRCm38)	T3A	probably benign	Het
Adamts18	G	A	8: 113,775,360 (GRCm38)	Q290*	probably null	Het
Ahnak	A	G	19: 9,009,476 (GRCm38)	D2708G	possibly damaging	Het
Asxl3	T	A	18: 22,525,247 (GRCm38)	C2105S	probably benign	Het
Atp8b1	A	T	18: 64,539,210 (GRCm38)	F1028I	probably damaging	Het
Axdnd1	C	G	1: 156,351,412 (GRCm38)	W615C	probably damaging	Het
Bcl3	A	T	7: 19,809,634 (GRCm38)	Y10*	probably null	Het
Bmp2	T	A	2: 133,554,646 (GRCm38)	V74E	possibly damaging	Het
Ccdc121	G	T	5: 31,486,084 (GRCm38)	G53W	probably benign	Het
Ccdc78	C	A	17: 25,786,677 (GRCm38)	P21Q	probably benign	Het
Cluap1	T	A	16: 3,915,484 (GRCm38)	V199E	probably damaging	Het
Cntnap3	T	C	13: 64,746,738 (GRCm38)	E1120G	probably damaging	Het
Col1a2	T	A	6: 4,540,531 (GRCm38)	W1330R	unknown	Het
Coq4	A	G	2: 29,795,514 (GRCm38)		probably null	Het
Cwf19l1	G	A	19: 44,120,877 (GRCm38)	T346I	possibly damaging	Het
Cyct	T	C	2: 76,354,203 (GRCm38)	Y68C	probably damaging	Het
Dnah10	T	C	5: 124,793,913 (GRCm38)	L2368P	probably benign	Het
Dnah2	A	T	11: 69,437,242 (GRCm38)	F3346I	probably damaging	Het
Dpp3	A	T	19: 4,918,267 (GRCm38)	V259E	probably damaging	Het
Dpyd	A	C	3: 119,064,951 (GRCm38)	S605R	probably damaging	Het
Emc1	A	G	4: 139,362,148 (GRCm38)	E209G	probably damaging	Het
Esrra	A	G	19: 6,920,207 (GRCm38)	S61P	probably benign	Het
Garin2	C	A	12: 78,715,075 (GRCm38)	P171H	probably damaging	Het
Gbx2	T	A	1: 89,933,122 (GRCm38)		probably benign	Het
Hepacam	A	G	9: 37,384,684 (GRCm38)	H377R	probably damaging	Het
Igkv12-46	T	C	6: 69,764,550 (GRCm38)	Y107C	probably damaging	Het
Intu	A	G	3: 40,675,308 (GRCm38)	D356G	probably damaging	Het
Izumo4	A	T	10: 80,703,220 (GRCm38)	N113Y	probably damaging	Het
Krt86	G	A	15: 101,473,593 (GRCm38)	A15T	probably benign	Het
Lhx8	A	T	3: 154,311,679 (GRCm38)	S275R	probably damaging	Het
Lingo3	A	T	10: 80,835,530 (GRCm38)	S189T	probably damaging	Het
Llgl1	T	A	11: 60,710,342 (GRCm38)	M702K	probably benign	Het
Lpin1	T	C	12: 16,573,714 (GRCm38)	Y223C		Het
Lrit3	G	T	3: 129,788,898 (GRCm38)	A359E	probably benign	Het
Lrp2	T	C	2: 69,499,263 (GRCm38)	E1720G	probably benign	Het
Mcub	A	C	3: 129,916,970 (GRCm38)	V271G	probably benign	Het
Or10g9	A	T	9: 40,000,621 (GRCm38)	I202N	possibly damaging	Het
Or13p4	T	A	4: 118,689,870 (GRCm38)	D194V	probably damaging	Het
Or1j18	A	T	2: 36,734,621 (GRCm38)	Q100L	probably damaging	Het
Or4d5	A	T	9: 40,101,244 (GRCm38)	L82Q	probably damaging	Het
Or52z12	T	A	7: 103,584,531 (GRCm38)	Y170N	probably benign	Het
Or9i1	G	A	19: 13,862,576 (GRCm38)	R261H	probably damaging	Het
Pcdha4	T	C	18: 36,954,822 (GRCm38)	V686A	probably benign	Het
Pelo	A	G	13: 115,089,873 (GRCm38)	V16A	possibly damaging	Het
Plcd1	A	G	9: 119,073,832 (GRCm38)	S539P	probably benign	Het
Prss1	A	G	6: 41,463,265 (GRCm38)	I179V	possibly damaging	Het
Ptgs2	T	C	1: 150,105,555 (GRCm38)	Y530H	probably damaging	Het
Rai1	T	C	11: 60,189,859 (GRCm38)	V1583A	probably damaging	Het
Raph1	T	G	1: 60,498,473 (GRCm38)	D508A	probably damaging	Het
Rmnd5a	A	G	6: 71,394,619 (GRCm38)		probably benign	Het
Rsf1	T	C	7: 97,662,121 (GRCm38)	L686P	probably benign	Het
Samd9l	T	C	6: 3,373,291 (GRCm38)	I1323M	possibly damaging	Het
Scn1a	T	C	2: 66,273,081 (GRCm38)	N1934S	probably benign	Het
Sec23ip	C	T	7: 128,750,427 (GRCm38)	H176Y	probably benign	Het
Sh3glb2	A	G	2: 30,354,851 (GRCm38)		probably null	Het
Sis	A	G	3: 72,914,576 (GRCm38)	I1384T	possibly damaging	Het
Spata31d1a	A	C	13: 59,702,618 (GRCm38)	C565W	probably damaging	Het
Srbd1	T	A	17: 86,127,801 (GRCm38)	Q278L	probably damaging	Het
Sry	T	C	Y: 2,662,625 (GRCm38)	H345R	unknown	Het
Suox	A	T	10: 128,671,825 (GRCm38)	D111E	probably damaging	Het
Taar7a	A	T	10: 23,992,828 (GRCm38)	F218L	probably benign	Het
Tfcp2l1	C	A	1: 118,664,762 (GRCm38)	N288K	possibly damaging	Het
Tmem128	G	T	5: 38,260,421 (GRCm38)	R7L	possibly damaging	Het
Tmem266	A	G	9: 55,437,566 (GRCm38)	N494S	probably damaging	Het
Tmprss3	T	A	17: 31,193,992 (GRCm38)	H80L	probably benign	Het
Tnrc6c	C	T	11: 117,749,271 (GRCm38)	Q1211*	probably null	Het
Tns1	T	A	1: 73,920,596 (GRCm38)	D1671V	possibly damaging	Het
Trmt1l	T	A	1: 151,435,704 (GRCm38)		probably benign	Het
Tshz2	A	T	2: 169,884,342 (GRCm38)	D286V	probably damaging	Het
Ttyh2	A	G	11: 114,675,659 (GRCm38)	E39G	probably benign	Het
Vmn2r125	G	A	4: 156,350,138 (GRCm38)	C73Y	probably damaging	Het
Vmn2r5	T	C	3: 64,504,076 (GRCm38)	D357G	probably damaging	Het
Vmn2r61	T	C	7: 42,300,487 (GRCm38)	F777S	probably damaging	Het
Vmn2r9	T	C	5: 108,847,561 (GRCm38)	E407G	probably damaging	Het
Vwa3a	A	G	7: 120,780,235 (GRCm38)	N521S	probably damaging	Het
Zan	C	G	5: 137,391,762 (GRCm38)	S4816T	unknown	Het
Zc3h7b	T	C	15: 81,771,858 (GRCm38)	Y136H	possibly damaging	Het
Zfp101	T	C	17: 33,381,321 (GRCm38)	K487R	possibly damaging	Het

Other mutations in Nktr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Nktr	APN	9	121,731,564 (GRCm38)	missense	possibly damaging	0.94
IGL01402:Nktr	APN	9	121,741,152 (GRCm38)	splice site	probably null
IGL01404:Nktr	APN	9	121,741,152 (GRCm38)	splice site	probably null
IGL02945:Nktr	APN	9	121,728,631 (GRCm38)	missense	probably damaging	1.00
IGL03334:Nktr	APN	9	121,748,176 (GRCm38)	missense	probably benign	0.18
IGL03134:Nktr	UTSW	9	121,746,466 (GRCm38)	missense	probably damaging	1.00
PIT4131001:Nktr	UTSW	9	121,741,621 (GRCm38)	missense	probably damaging	1.00
R0010:Nktr	UTSW	9	121,741,166 (GRCm38)	splice site	probably benign
R0158:Nktr	UTSW	9	121,750,691 (GRCm38)	unclassified	probably benign
R0399:Nktr	UTSW	9	121,731,484 (GRCm38)	missense	probably damaging	0.98
R0503:Nktr	UTSW	9	121,750,740 (GRCm38)	unclassified	probably benign
R0585:Nktr	UTSW	9	121,754,280 (GRCm38)	utr 3 prime	probably benign
R0606:Nktr	UTSW	9	121,749,290 (GRCm38)	unclassified	probably benign
R1248:Nktr	UTSW	9	121,727,370 (GRCm38)	missense	probably damaging	1.00
R1899:Nktr	UTSW	9	121,748,866 (GRCm38)	unclassified	probably benign
R1912:Nktr	UTSW	9	121,750,240 (GRCm38)	unclassified	probably benign
R2049:Nktr	UTSW	9	121,741,694 (GRCm38)	missense	probably damaging	1.00
R2279:Nktr	UTSW	9	121,731,537 (GRCm38)	missense	possibly damaging	0.93
R2912:Nktr	UTSW	9	121,749,604 (GRCm38)	unclassified	probably benign
R2913:Nktr	UTSW	9	121,749,604 (GRCm38)	unclassified	probably benign
R2914:Nktr	UTSW	9	121,749,604 (GRCm38)	unclassified	probably benign
R3939:Nktr	UTSW	9	121,749,069 (GRCm38)	unclassified	probably benign
R4080:Nktr	UTSW	9	121,741,126 (GRCm38)	missense	probably damaging	1.00
R4471:Nktr	UTSW	9	121,748,896 (GRCm38)	unclassified	probably benign
R4472:Nktr	UTSW	9	121,748,896 (GRCm38)	unclassified	probably benign
R4506:Nktr	UTSW	9	121,748,883 (GRCm38)	unclassified	probably benign
R4556:Nktr	UTSW	9	121,741,123 (GRCm38)	missense	probably damaging	0.98
R4736:Nktr	UTSW	9	121,749,739 (GRCm38)	unclassified	probably benign
R4749:Nktr	UTSW	9	121,741,693 (GRCm38)	missense	probably damaging	1.00
R4943:Nktr	UTSW	9	121,719,954 (GRCm38)	intron	probably benign
R5084:Nktr	UTSW	9	121,748,110 (GRCm38)	missense	possibly damaging	0.86
R5250:Nktr	UTSW	9	121,749,792 (GRCm38)	unclassified	probably benign
R5288:Nktr	UTSW	9	121,748,593 (GRCm38)	missense	probably benign	0.23
R5324:Nktr	UTSW	9	121,727,346 (GRCm38)	missense	probably damaging	1.00
R5330:Nktr	UTSW	9	121,752,768 (GRCm38)	intron	probably benign
R5331:Nktr	UTSW	9	121,752,768 (GRCm38)	intron	probably benign
R5502:Nktr	UTSW	9	121,748,606 (GRCm38)	unclassified	probably benign
R5664:Nktr	UTSW	9	121,749,417 (GRCm38)	nonsense	probably null
R6005:Nktr	UTSW	9	121,748,394 (GRCm38)	unclassified	probably benign
R6057:Nktr	UTSW	9	121,748,389 (GRCm38)	unclassified	probably benign
R6083:Nktr	UTSW	9	121,750,136 (GRCm38)	unclassified	probably benign
R6274:Nktr	UTSW	9	121,731,565 (GRCm38)	missense	probably damaging	1.00
R6445:Nktr	UTSW	9	121,748,414 (GRCm38)	unclassified	probably benign
R6467:Nktr	UTSW	9	121,731,519 (GRCm38)	missense	probably damaging	1.00
R6911:Nktr	UTSW	9	121,754,326 (GRCm38)	nonsense	probably null
R6960:Nktr	UTSW	9	121,742,692 (GRCm38)	missense	probably damaging	0.99
R7226:Nktr	UTSW	9	121,746,533 (GRCm38)	missense	probably damaging	0.99
R7324:Nktr	UTSW	9	121,748,291 (GRCm38)	missense	possibly damaging	0.66
R7324:Nktr	UTSW	9	121,727,361 (GRCm38)	missense	probably damaging	1.00
R7451:Nktr	UTSW	9	121,729,656 (GRCm38)	missense	probably damaging	0.99
R7464:Nktr	UTSW	9	121,750,327 (GRCm38)	missense	unknown
R7537:Nktr	UTSW	9	121,749,279 (GRCm38)	missense	unknown
R8126:Nktr	UTSW	9	121,746,448 (GRCm38)	missense	probably damaging	1.00
R8163:Nktr	UTSW	9	121,750,863 (GRCm38)	unclassified	probably benign
R8812:Nktr	UTSW	9	121,750,251 (GRCm38)	missense	unknown
R8829:Nktr	UTSW	9	121,754,264 (GRCm38)	missense	unknown
R8945:Nktr	UTSW	9	121,746,492 (GRCm38)	missense	possibly damaging	0.70
R9158:Nktr	UTSW	9	121,753,088 (GRCm38)	missense	unknown
R9252:Nktr	UTSW	9	121,750,349 (GRCm38)	missense	unknown
R9378:Nktr	UTSW	9	121,748,198 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAACCCTCAAGATCTCCC -3'
(R):5'- AATGTTTTCTGCTGCCACTGG -3'

Sequencing Primer
(F):5'- ACCGAATGAAGTCCTCTTGTG -3'
(R):5'- TGCCACTGGTTGCACTAG -3'

Posted On

2016-10-26