Mutagenetix > Incidental Mutation

Incidental Mutation 'R1248:Nktr'

152195

Institutional Source

Beutler Lab

Gene Symbol

Nktr

Ensembl Gene

ENSMUSG00000032525

Gene Name

natural killer tumor recognition sequence

Synonyms

5330401F18Rik, D9Wsu172e

MMRRC Submission

039315-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.619) question?

Stock #

R1248 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121719169-121756843 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121727370 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 38 (N38S)

Ref Sequence

ENSEMBL: ENSMUSP00000138272 (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: N38S

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

SMART Domains

Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: N38S

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: N38S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138437
Gene: ENSMUSG00000032525
AA Change: N38S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000182225
AA Change: N38S

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

SMART Domains

Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: N38S

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: N38S

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

SMART Domains

Protein: ENSMUSP00000138690
Gene: ENSMUSG00000032525
AA Change: N38S

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: N31S

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

SMART Domains

Protein: ENSMUSP00000138164
Gene: ENSMUSG00000032525
AA Change: N31S

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: N38S

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

SMART Domains

Protein: ENSMUSP00000138272
Gene: ENSMUSG00000032525
AA Change: N38S

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: N38S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138611
Gene: ENSMUSG00000032525
AA Change: N38S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183311

Meta Mutation Damage Score

0.9116

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

98% (43/44)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	T	10: 10,395,310	F863Y	probably damaging	Het
Akap12	A	G	10: 4,353,847	E219G	probably benign	Het
Akr1c20	G	A	13: 4,514,400	T38I	possibly damaging	Het
Ap5z1	C	A	5: 142,474,500	S511R	probably benign	Het
Arhgap11a	T	A	2: 113,834,102	H612L	possibly damaging	Het
Atp2b2	G	T	6: 113,817,192	S118Y	probably damaging	Het
Boc	A	T	16: 44,520,473	M38K	probably benign	Het
Ccdc171	A	T	4: 83,681,244	E773D	possibly damaging	Het
Dmtn	C	T	14: 70,612,658		probably benign	Het
Dnah10	G	A	5: 124,755,823		probably benign	Het
Efcab1	A	G	16: 14,924,137	M212V	probably benign	Het
Fam83b	T	C	9: 76,503,076	N184S	probably benign	Het
Fam98c	A	G	7: 29,152,840	M98T	probably damaging	Het
Fbn1	T	C	2: 125,301,609	K2867E	probably benign	Het
Fsip2	A	T	2: 82,989,763	E5280V	possibly damaging	Het
Fuom	T	C	7: 140,099,718		probably benign	Het
Gm3476	A	T	14: 6,118,512	S204T	probably benign	Het
Grhl3	A	G	4: 135,561,306	F23L	probably benign	Het
Il4i1	G	T	7: 44,839,789	R334L	probably damaging	Het
Ipo13	A	G	4: 117,901,031	S712P	probably damaging	Het
Lama4	G	T	10: 39,056,847	S573I	probably damaging	Het
Lrp11	A	G	10: 7,604,294	H371R	probably benign	Het
Mkln1	T	A	6: 31,489,368	I520N	probably damaging	Het
Nagpa	G	T	16: 5,198,616	C236*	probably null	Het
Nlrp10	G	A	7: 108,925,881	R131C	probably benign	Het
Nxpe2	T	C	9: 48,319,911	D386G	possibly damaging	Het
Prpf39	T	A	12: 65,053,966		probably benign	Het
Retreg2	A	G	1: 75,145,111		probably benign	Het
S100a4	G	T	3: 90,605,777	S60I	possibly damaging	Het
Slc12a3	G	T	8: 94,333,277	G184C	probably damaging	Het
Slc25a46	C	T	18: 31,609,754	D20N	possibly damaging	Het
Smc3	A	G	19: 53,634,078	K695E	probably benign	Het
Speer2	A	T	16: 69,857,067		probably null	Het
Taar4	T	G	10: 23,961,038	V182G	possibly damaging	Het
Ttll1	C	G	15: 83,502,125	S93T	probably benign	Het
Ubl3	A	T	5: 148,506,198		probably null	Het
Vmn2r16	A	G	5: 109,360,777	N457S	probably benign	Het
Vmn2r72	T	C	7: 85,749,188	E528G	probably benign	Het
Zfp52	A	C	17: 21,560,049	E53A	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
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
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

Posted On

2014-01-29