Mutagenetix > Incidental Mutation

Incidental Mutation 'R5324:Nktr'

405023

Institutional Source

Beutler Lab

Gene Symbol

Nktr

Ensembl Gene

ENSMUSG00000032525

Gene Name

natural killer tumor recognition sequence

Synonyms

5330401F18Rik, D9Wsu172e

MMRRC Submission

042907-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.538) question?

Stock #

R5324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121719169-121756843 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121727346 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 30 (D30V)

Ref Sequence

ENSEMBL: ENSMUSP00000138168 (fasta)

Gene Model

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

AlphaFold

P30415

Predicted Effect

probably damaging
Transcript: ENSMUST00000035112
AA Change: D30V

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

SMART Domains

Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: D30V

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 damaging
Transcript: ENSMUST00000182179
AA Change: D30V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138437
Gene: ENSMUSG00000032525
AA Change: D30V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000182225
AA Change: D30V

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

SMART Domains

Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: D30V

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

possibly damaging
Transcript: ENSMUST00000182311
AA Change: D30V

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138690
Gene: ENSMUSG00000032525
AA Change: D30V

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 damaging
Transcript: ENSMUST00000182337
AA Change: D23V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138164
Gene: ENSMUSG00000032525
AA Change: D23V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182395

Predicted Effect

probably damaging
Transcript: ENSMUST00000182763
AA Change: D30V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138272
Gene: ENSMUSG00000032525
AA Change: D30V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182904

Predicted Effect

probably damaging
Transcript: ENSMUST00000183070
AA Change: D30V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138611
Gene: ENSMUSG00000032525
AA Change: D30V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183311

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.2%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	G	T	7: 127,384,907		probably benign	Het
Akap10	C	T	11: 61,916,189	A72T	probably damaging	Het
Ap5b1	G	A	19: 5,569,835	E428K	possibly damaging	Het
Bmp2	C	T	2: 133,561,359	R277*	probably null	Het
Cbl	A	T	9: 44,154,254	S659T	probably damaging	Het
Col14a1	A	T	15: 55,338,445	H43L	unknown	Het
Corin	A	G	5: 72,435,257	C133R	probably damaging	Het
Cyp1a1	A	G	9: 57,702,369	N401S	probably benign	Het
Dip2a	T	C	10: 76,296,393	D508G	probably damaging	Het
Dnah2	T	A	11: 69,457,993	H2556L	probably benign	Het
Dock8	T	C	19: 25,163,094	F1333L	probably benign	Het
Epg5	A	G	18: 77,962,445	K717E	possibly damaging	Het
Fmn2	G	A	1: 174,608,880		probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Hbp1	T	C	12: 31,928,618	N510S	probably damaging	Het
Lrguk	T	C	6: 34,073,797	S397P	possibly damaging	Het
Mmrn1	A	T	6: 60,976,586	D617V	probably damaging	Het
Mroh9	C	G	1: 163,060,760	G249R	probably damaging	Het
N6amt1	A	G	16: 87,354,353	D34G	probably damaging	Het
Olfr1151	A	T	2: 87,857,696	I174F	probably damaging	Het
Olfr598	T	A	7: 103,329,050	M188K	probably damaging	Het
Olfr805	T	A	10: 129,722,945	I200L	probably benign	Het
Pabpc1	A	G	15: 36,600,625	F314L	probably damaging	Het
Papln	G	A	12: 83,774,571	V226M	probably damaging	Het
Parp12	A	T	6: 39,102,612	D321E	probably damaging	Het
Plch2	T	A	4: 154,984,534	T1107S	probably benign	Het
Psma2	T	C	13: 14,625,217	L182P	probably damaging	Het
Rcl1	A	G	19: 29,128,001	Y196C	probably benign	Het
Rdh16	G	A	10: 127,801,267	V24M	probably damaging	Het
Rpe65	A	G	3: 159,604,404	T105A	possibly damaging	Het
Serpini1	T	C	3: 75,640,294	I371T	probably damaging	Het
Tet2	T	C	3: 133,485,913	N920S	probably benign	Het
Tmem71	C	T	15: 66,555,214	S44N	probably benign	Het
Tmprss11f	T	A	5: 86,556,978	D27V	possibly damaging	Het
Zxdc	T	A	6: 90,373,800	I411N	probably damaging	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
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
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'- TGGGATTGATCTCCAGTACTGTA -3'
(R):5'- TGTCCTCTTTTAAGAAATGTTTCCTT -3'

Sequencing Primer
(F):5'- CATACTGTTGTTGGGTACCT -3'
(R):5'- ACAGTTATATCAGGGTCCTGTCAGC -3'

Posted On

2016-07-22