Mutagenetix > Incidental Mutations

Incidental Mutation 'R4080:Nktr'

316824

Institutional Source

Beutler Lab

Gene Symbol

Nktr

Ensembl Gene

ENSMUSG00000032525

Gene Name

natural killer tumor recognition sequence

Synonyms

5330401F18Rik, D9Wsu172e

MMRRC Submission

040856-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.623) question?

Stock #

R4080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121719169-121756843 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 121741126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 127 (T127P)

Ref Sequence

ENSEMBL: ENSMUSP00000035112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035112] [ENSMUST00000182179] [ENSMUST00000182225] [ENSMUST00000182311] [ENSMUST00000182763] [ENSMUST00000183070]

AlphaFold

P30415

Predicted Effect

probably damaging
Transcript: ENSMUST00000035112
AA Change: T127P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: T127P

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: ENSMUST00000182086

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 damaging
Transcript: ENSMUST00000182225
AA Change: T127P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: T127P

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 damaging
Transcript: ENSMUST00000182311
AA Change: T91P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138690
Gene: ENSMUSG00000032525
AA Change: T91P

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	10	54	2.9e-8	PFAM
Pfam:Pro_isomerase	44	99	7.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182763

SMART Domains

Protein: ENSMUSP00000138272
Gene: ENSMUSG00000032525

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	10	68	3.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182904

Predicted Effect

probably benign
Transcript: ENSMUST00000183070

SMART Domains

Protein: ENSMUSP00000138611
Gene: ENSMUSG00000032525

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	10	103	1.9e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216573

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	G	T	12: 55,304,613	V236F	possibly damaging	Het
Aass	A	T	6: 23,109,498	D324E	possibly damaging	Het
Adam7	T	C	14: 68,520,539	T245A	probably benign	Het
Adgrf3	G	A	5: 30,197,369	Q554*	probably null	Het
Aim2	T	C	1: 173,459,851		probably null	Het
Arhgef1	G	T	7: 24,925,846	D850Y	probably damaging	Het
Aspm	C	A	1: 139,470,755	Q1024K	probably damaging	Het
C7	T	C	15: 4,990,464	S734G	probably benign	Het
Ccdc158	A	T	5: 92,623,396	S987T	probably benign	Het
Chrna2	G	T	14: 66,143,417	G45V	probably benign	Het
Chrna2	C	A	14: 66,143,424	Y47*	probably null	Het
Clec2g	C	A	6: 128,981,324	Q117K	probably damaging	Het
Cntnap5a	A	G	1: 116,101,574	S253G	probably benign	Het
Cttn	T	A	7: 144,457,724	D116V	probably damaging	Het
Cyp2c40	A	G	19: 39,802,529	V286A	probably benign	Het
Dcbld2	T	A	16: 58,465,373	S632T	probably damaging	Het
Dscam	A	T	16: 96,683,772	N1118K	probably benign	Het
Eif2a	C	T	3: 58,539,629	T92M	possibly damaging	Het
Frmpd1	T	A	4: 45,284,382	C1068S	probably benign	Het
Fstl1	G	A	16: 37,822,603	V110I	probably benign	Het
Gpat2	T	C	2: 127,433,622	I465T	probably damaging	Het
Gpr137	C	T	19: 6,940,423		probably benign	Het
Hgsnat	A	G	8: 25,946,343	I561T	probably benign	Het
Ift74	T	A	4: 94,652,912		probably null	Het
Ilf3	A	G	9: 21,403,134		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lrrc41	C	A	4: 116,080,546		probably null	Het
Myh11	C	A	16: 14,224,059	R700L	possibly damaging	Het
Myo16	A	G	8: 10,562,240	D1295G	probably damaging	Het
Myo5b	A	G	18: 74,740,488	M1488V	probably benign	Het
Naip6	A	T	13: 100,299,307	Y903N	probably damaging	Het
Nek6	A	G	2: 38,550,637	H19R	probably damaging	Het
Noc4l	A	T	5: 110,649,872	D335E	probably benign	Het
Nsd1	A	G	13: 55,301,809	D1993G	probably damaging	Het
Olfr1377	G	A	11: 50,984,856	D52N	probably damaging	Het
Olfr190	A	T	16: 59,074,256	F275I	probably damaging	Het
Pabpc2	A	T	18: 39,775,530	Q616L	possibly damaging	Het
Pcdhga4	A	T	18: 37,685,779	D127V	probably damaging	Het
Phrf1	T	C	7: 141,259,720		probably benign	Het
Phtf2	T	A	5: 20,813,296	I16F	probably damaging	Het
Plekhg3	G	T	12: 76,577,981	R1200L	probably benign	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Prss12	A	G	3: 123,485,485	N404D	probably benign	Het
Ptch2	C	G	4: 117,111,206	A926G	probably damaging	Het
Ptpa	T	C	2: 30,443,305	F6L	probably damaging	Het
Reck	T	C	4: 43,942,293	I853T	possibly damaging	Het
Reep6	G	A	10: 80,330,162		probably benign	Het
Rex2	T	A	4: 147,058,697	S547R	probably benign	Het
Rgs22	C	T	15: 36,107,076	E55K	probably damaging	Het
Rtl6	T	C	15: 84,557,001	T65A	possibly damaging	Het
Scarb1	G	T	5: 125,277,795	P491Q	probably damaging	Het
Scfd1	A	G	12: 51,431,519	S505G	probably benign	Het
Scube1	T	G	15: 83,608,747	Q904P	probably damaging	Het
Sis	T	C	3: 72,921,184	Y1186C	probably damaging	Het
Spta1	A	G	1: 174,214,066	D1334G	probably benign	Het
Spty2d1	T	C	7: 46,998,581	E200G	probably damaging	Het
Stard13	C	A	5: 151,092,829		probably null	Het
Sybu	T	C	15: 44,718,943	K95R	probably damaging	Het
Trappc9	T	A	15: 72,941,947	D488V	probably damaging	Het
Txk	G	A	5: 72,700,663	P381S	probably damaging	Het
Ubr2	A	T	17: 46,988,722	M198K	probably benign	Het
Unc5a	A	T	13: 55,004,481	T786S	possibly damaging	Het
Unc93b1	G	A	19: 3,941,959	R231Q	probably damaging	Het
Wfdc1	T	A	8: 119,683,793		probably null	Het
Zfp667	T	G	7: 6,305,106	C258G	possibly damaging	Het
Zfr	G	A	15: 12,162,233	R823H	probably benign	Het

Other mutations in Nktr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Nktr	APN	9	121731564	missense	possibly damaging	0.94
IGL01402:Nktr	APN	9	121741152	splice site	probably null
IGL01404:Nktr	APN	9	121741152	splice site	probably null
IGL02945:Nktr	APN	9	121728631	missense	probably damaging	1.00
IGL03334:Nktr	APN	9	121748176	missense	probably benign	0.18
IGL03134:Nktr	UTSW	9	121746466	missense	probably damaging	1.00
PIT4131001:Nktr	UTSW	9	121741621	missense	probably damaging	1.00
R0010:Nktr	UTSW	9	121741166	splice site	probably benign
R0158:Nktr	UTSW	9	121750691	unclassified	probably benign
R0399:Nktr	UTSW	9	121731484	missense	probably damaging	0.98
R0503:Nktr	UTSW	9	121750740	unclassified	probably benign
R0585:Nktr	UTSW	9	121754280	utr 3 prime	probably benign
R0606:Nktr	UTSW	9	121749290	unclassified	probably benign
R1248:Nktr	UTSW	9	121727370	missense	probably damaging	1.00
R1899:Nktr	UTSW	9	121748866	unclassified	probably benign
R1912:Nktr	UTSW	9	121750240	unclassified	probably benign
R2049:Nktr	UTSW	9	121741694	missense	probably damaging	1.00
R2279:Nktr	UTSW	9	121731537	missense	possibly damaging	0.93
R2912:Nktr	UTSW	9	121749604	unclassified	probably benign
R2913:Nktr	UTSW	9	121749604	unclassified	probably benign
R2914:Nktr	UTSW	9	121749604	unclassified	probably benign
R3939:Nktr	UTSW	9	121749069	unclassified	probably benign
R4471:Nktr	UTSW	9	121748896	unclassified	probably benign
R4472:Nktr	UTSW	9	121748896	unclassified	probably benign
R4506:Nktr	UTSW	9	121748883	unclassified	probably benign
R4556:Nktr	UTSW	9	121741123	missense	probably damaging	0.98
R4736:Nktr	UTSW	9	121749739	unclassified	probably benign
R4749:Nktr	UTSW	9	121741693	missense	probably damaging	1.00
R4943:Nktr	UTSW	9	121719954	intron	probably benign
R5084:Nktr	UTSW	9	121748110	missense	possibly damaging	0.86
R5250:Nktr	UTSW	9	121749792	unclassified	probably benign
R5288:Nktr	UTSW	9	121748593	missense	probably benign	0.23
R5324:Nktr	UTSW	9	121727346	missense	probably damaging	1.00
R5330:Nktr	UTSW	9	121752768	intron	probably benign
R5331:Nktr	UTSW	9	121752768	intron	probably benign
R5502:Nktr	UTSW	9	121748606	unclassified	probably benign
R5587:Nktr	UTSW	9	121748489	unclassified	probably benign
R5664:Nktr	UTSW	9	121749417	nonsense	probably null
R6005:Nktr	UTSW	9	121748394	unclassified	probably benign
R6057:Nktr	UTSW	9	121748389	unclassified	probably benign
R6083:Nktr	UTSW	9	121750136	unclassified	probably benign
R6274:Nktr	UTSW	9	121731565	missense	probably damaging	1.00
R6445:Nktr	UTSW	9	121748414	unclassified	probably benign
R6467:Nktr	UTSW	9	121731519	missense	probably damaging	1.00
R6911:Nktr	UTSW	9	121754326	nonsense	probably null
R6960:Nktr	UTSW	9	121742692	missense	probably damaging	0.99
R7226:Nktr	UTSW	9	121746533	missense	probably damaging	0.99
R7324:Nktr	UTSW	9	121727361	missense	probably damaging	1.00
R7324:Nktr	UTSW	9	121748291	missense	possibly damaging	0.66
R7451:Nktr	UTSW	9	121729656	missense	probably damaging	0.99
R7464:Nktr	UTSW	9	121750327	missense	unknown
R7537:Nktr	UTSW	9	121749279	missense	unknown
R8126:Nktr	UTSW	9	121746448	missense	probably damaging	1.00
R8163:Nktr	UTSW	9	121750863	unclassified	probably benign
R8812:Nktr	UTSW	9	121750251	missense	unknown
R8829:Nktr	UTSW	9	121754264	missense	unknown
R8945:Nktr	UTSW	9	121746492	missense	possibly damaging	0.70
R9158:Nktr	UTSW	9	121753088	missense	unknown
R9252:Nktr	UTSW	9	121750349	missense	unknown
R9378:Nktr	UTSW	9	121748198	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCACATAATCCTGCTGGG -3'
(R):5'- CAGCTGCTGGCCATTTTAGG -3'

Sequencing Primer
(F):5'- AGTAAAATGGCTACTATTGGTGTTTG -3'
(R):5'- CTGCTAAGAGAGGACACTTCATACTG -3'

Posted On

2015-05-15