Mutagenetix > Incidental Mutation

Incidental Mutation 'R4943:Nktr'

383277

Institutional Source

Beutler Lab

Gene Symbol

Nktr

Ensembl Gene

ENSMUSG00000032525

Gene Name

natural killer tumor recognition sequence

Synonyms

5330401F18Rik, D9Wsu172e

MMRRC Submission

042540-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.499) question?

Stock #

R4943 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121719169-121756843 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 121719954 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035112] [ENSMUST00000182179] [ENSMUST00000182225] [ENSMUST00000182311] [ENSMUST00000182337] [ENSMUST00000182763] [ENSMUST00000183070]

AlphaFold

P30415

Predicted Effect

probably benign
Transcript: ENSMUST00000035112

SMART Domains

Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525

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

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: ENSMUST00000182311

SMART Domains

Protein: ENSMUSP00000138690
Gene: ENSMUSG00000032525

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: ENSMUST00000182337

SMART Domains

Protein: ENSMUSP00000138164
Gene: ENSMUSG00000032525

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	7	101	1e-22	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: ENSMUST00000183207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183311

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

99% (81/82)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,245,327	T366K	possibly damaging	Het
2510039O18Rik	T	A	4: 147,945,098	H508Q	probably damaging	Het
Actl9	G	A	17: 33,433,085	V40M	possibly damaging	Het
Aen	T	A	7: 78,902,361	V23E	probably damaging	Het
Agbl1	G	A	7: 76,420,016	R432K	probably benign	Het
Akap13	T	A	7: 75,749,240	F2689I	probably benign	Het
Arhgap45	A	G	10: 80,026,503	S475G	probably benign	Het
Atg7	A	C	6: 114,697,084	Q231P	probably benign	Het
Calr3	A	T	8: 72,431,377	V226D	probably benign	Het
Cldn10	G	A	14: 118,788,313	G53S	possibly damaging	Het
Cops4	A	T	5: 100,547,426	M404L	probably benign	Het
Cpne4	A	T	9: 105,019,773	H375L	probably damaging	Het
D16Ertd472e	A	T	16: 78,575,989	V20D	probably damaging	Het
Dcun1d5	T	C	9: 7,186,844	F55L	possibly damaging	Het
Dhx8	T	A	11: 101,737,700	L93*	probably null	Het
Dtx4	A	G	19: 12,501,060	L53P	probably damaging	Het
Ern2	C	T	7: 122,173,258	R659H	possibly damaging	Het
Etl4	G	A	2: 20,807,281	A1392T	probably benign	Het
Fat2	T	C	11: 55,279,033	R2967G	probably benign	Het
Fat4	A	G	3: 38,980,173	D2658G	probably benign	Het
Ftsj3	A	G	11: 106,249,518	V808A	probably damaging	Het
Gm10447	A	T	11: 53,456,389	Y104*	probably null	Het
Gm27013	A	T	6: 130,676,200	C766*	probably null	Het
Gm438	T	A	4: 144,777,720	E287V	probably benign	Het
Gm5581	A	G	6: 131,167,125		noncoding transcript	Het
Gpr158	G	A	2: 21,827,157	V1023I	probably damaging	Het
Hectd2	T	G	19: 36,604,247		probably null	Het
Hmcn2	T	C	2: 31,335,492	Y138H	probably damaging	Het
Kif28	T	C	1: 179,713,951	I369V	probably benign	Het
Kif4-ps	C	T	12: 101,149,217		noncoding transcript	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Map3k20	G	A	2: 72,371,918	M164I	possibly damaging	Het
Map4k4	A	G	1: 40,019,594	I1050V	probably damaging	Het
Med23	T	A	10: 24,875,669	V133D	possibly damaging	Het
Mycn	A	T	12: 12,937,079	L439Q	probably damaging	Het
Myh2	G	T	11: 67,197,317	A1920S	probably damaging	Het
Myom3	T	C	4: 135,814,274	V1392A	possibly damaging	Het
Nme3	A	G	17: 24,896,723	K48E	probably damaging	Het
Nt5dc1	T	C	10: 34,310,391	R58G	probably damaging	Het
Nup205	A	G	6: 35,224,639	E1270G	probably damaging	Het
Olfr106-ps	G	T	17: 37,395,025	A162S	probably benign	Het
Olfr1509	C	G	14: 52,450,594	Y60*	probably null	Het
Olfr630	A	T	7: 103,755,296	F96L	probably benign	Het
Olfr898	C	T	9: 38,349,628	H176Y	probably damaging	Het
Pclo	T	C	5: 14,712,637	L3708P	unknown	Het
Pde4dip	A	T	3: 97,755,511	N590K	probably damaging	Het
Prokr1	A	C	6: 87,581,824	I193S	possibly damaging	Het
Pxdc1	C	A	13: 34,639,006		probably null	Het
Rapgef2	A	T	3: 79,064,547	S1494T	probably benign	Het
Rbms3	G	C	9: 116,678,505		probably benign	Het
Reep3	T	A	10: 67,096,263		probably benign	Het
Rwdd2b	T	C	16: 87,434,534	K244R	possibly damaging	Het
Srrm2	T	C	17: 23,822,415	V2533A	possibly damaging	Het
Stab2	T	C	10: 86,954,162	Y580C	probably damaging	Het
Stac2	G	T	11: 98,041,572	S198R	probably benign	Het
Tdp2	T	A	13: 24,838,265	N222K	probably benign	Het
Tex21	A	G	12: 76,221,700	S103P	probably damaging	Het
Thbs1	A	T	2: 118,113,449	I183F	probably damaging	Het
Tm9sf1	T	C	14: 55,641,168	I256V	probably damaging	Het
Tmem207	C	T	16: 26,517,853	W50*	probably null	Het
Trpm2	C	A	10: 77,966,007	V75L	probably damaging	Het
Vmn1r227	A	T	17: 20,735,361		noncoding transcript	Het
Vmn2r13	C	A	5: 109,175,049	V125L	probably benign	Het
Vmn2r75	A	T	7: 86,165,497	S263T	probably damaging	Het
Wdr64	G	A	1: 175,720,316	V140I	probably benign	Het
Xpo4	T	C	14: 57,638,240	I145M	possibly damaging	Het
Zan	G	A	5: 137,457,890	T1336I	unknown	Het
Zdbf2	G	T	1: 63,302,914	V151F	possibly damaging	Het
Zfhx3	T	C	8: 108,948,317	S2000P	probably damaging	Het
Zfp65	T	A	13: 67,710,980	I12F	probably damaging	Het
Zfp703	C	A	8: 26,979,591	Q428K	probably benign	Het
Zfp947	A	C	17: 22,145,832	M287R	probably benign	Het
Zfp976	A	T	7: 42,612,422		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
R4080:Nktr	UTSW	9	121741126	missense	probably damaging	1.00
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
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'- CCTTCCCGAGAATGTACTGG -3'
(R):5'- TAAAAGAAGCAGCAGCCCTG -3'

Sequencing Primer
(F):5'- AATGTACTGGCTCCGGGAGAC -3'
(R):5'- AGCCCTGCTTTAGTCACTG -3'

Posted On

2016-04-27