Mutagenetix > Incidental Mutations

Incidental Mutation 'R9063:Nck2'

689059

Institutional Source

Beutler Lab

Gene Symbol

Nck2

Ensembl Gene

ENSMUSG00000066877

Gene Name

non-catalytic region of tyrosine kinase adaptor protein 2

Synonyms

4833426I10Rik, Grb4, NCKbeta

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9063 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43444579-43570515 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43554343 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 237 (C237R)

Ref Sequence

ENSEMBL: ENSMUSP00000083611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086421] [ENSMUST00000202540]

AlphaFold

O55033

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086421
AA Change: C237R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083611
Gene: ENSMUSG00000066877
AA Change: C237R

Domain	Start	End	E-Value	Type
SH3	5	60	7.06e-17	SMART
SH3	114	169	8.56e-16	SMART
SH3	198	256	2.09e-19	SMART
SH2	283	365	2.86e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114744

SMART Domains

Protein: ENSMUSP00000110392
Gene: ENSMUSG00000066877

Domain	Start	End	E-Value	Type
SH3	5	60	7.06e-17	SMART
SH3	114	169	8.56e-16	SMART
SH3	198	256	2.09e-19	SMART
SH2	283	365	2.86e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202540

SMART Domains

Protein: ENSMUSP00000144224
Gene: ENSMUSG00000066877

Domain	Start	End	E-Value	Type
SH3	5	60	4.3e-19	SMART
PDB:2CUB\|A	106	142	4e-13	PDB
Blast:SH3	114	142	3e-11	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene display no abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	G	7: 116,104,425	S178A	probably benign	Het
Add3	T	C	19: 53,233,871	L303P	probably damaging	Het
Agr2	T	A	12: 36,003,899	*176K	probably null	Het
Apobr	C	T	7: 126,586,748	T477I	probably benign	Het
Cdca7l	G	A	12: 117,874,801	V336M	probably damaging	Het
Cep63	T	G	9: 102,619,028	H18P	unknown	Het
Copa	A	G	1: 172,116,962	D838G	probably benign	Het
Cspg4	G	T	9: 56,888,403	V1141L	probably benign	Het
D930020B18Rik	A	G	10: 121,661,097	T146A	probably benign	Het
Dapk1	A	T	13: 60,718,450	I206L	probably benign	Het
Emsy	C	T	7: 98,646,477	D73N	probably damaging	Het
Esr2	A	T	12: 76,121,816	Y540N	probably benign	Het
Exoc7	C	A	11: 116,289,275	V668L	probably benign	Het
Fcgbp	C	T	7: 28,091,852	T846I	probably damaging	Het
Fhod3	A	G	18: 25,020,715	E418G	probably damaging	Het
Fryl	G	A	5: 73,081,003	R1467C	possibly damaging	Het
Gas2l3	A	G	10: 89,413,696	I520T	probably benign	Het
Gfod1	A	G	13: 43,200,804	C232R	probably benign	Het
Gpr61	T	C	3: 108,150,239	R369G	probably benign	Het
Hk1	T	C	10: 62,286,650	Y423C	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Jmy	T	C	13: 93,499,072	R79G	probably benign	Het
Kcnn4	T	A	7: 24,377,509	V161E	probably damaging	Het
Kif15	T	A	9: 123,004,641	I1040N	probably damaging	Het
Kif2b	A	G	11: 91,575,828	L543S	probably damaging	Het
Kpna2	A	G	11: 106,992,663	I81T	probably benign	Het
Krt12	A	G	11: 99,416,931	S444P	probably benign	Het
Lmnb2	C	T	10: 80,906,171	V29M	probably benign	Het
Lmod2	T	C	6: 24,603,365	V113A	probably benign	Het
Lrp1b	T	C	2: 41,341,826	T1211A		Het
Lrrc8d	T	C	5: 105,814,093	S790P	probably damaging	Het
Map3k4	A	G	17: 12,263,991	V613A	probably damaging	Het
Marveld2	T	C	13: 100,612,145	N142S	probably benign	Het
Mfsd7a	A	G	5: 108,442,237	L433P	probably damaging	Het
Mgll	G	A	6: 88,825,708	V282I	possibly damaging	Het
Mief2	G	A	11: 60,731,488	E295K	probably damaging	Het
Mmrn2	A	T	14: 34,398,610	H479L	probably benign	Het
Myh15	T	A	16: 49,092,755	N358K	probably benign	Het
Mzf1	T	G	7: 13,053,078	K101Q	probably damaging	Het
Ncbp3	T	A	11: 73,073,427	L401Q	probably damaging	Het
Nlrp9a	T	G	7: 26,573,866	N976K	possibly damaging	Het
Nol11	A	G	11: 107,173,414	V524A	probably benign	Het
Nol11	T	C	11: 107,179,031	Y331C	possibly damaging	Het
Nsmf	A	T	2: 25,062,610	H149L	probably benign	Het
Olfm3	T	C	3: 115,120,933	V231A	probably benign	Het
Olfr364-ps1	A	T	2: 37,146,634	M141L	probably benign	Het
Olfr544	T	C	7: 102,484,724	Y132C	probably damaging	Het
Olfr575	A	G	7: 102,955,239	S121P	probably benign	Het
Pcdhgb5	T	A	18: 37,731,686	F178Y	probably damaging	Het
Plk2	T	A	13: 110,396,386	S160R	possibly damaging	Het
Plk5	C	G	10: 80,357,996	R40G	probably damaging	Het
Ppp1cc	A	G	5: 122,168,216	N33D	probably benign	Het
Ptpn23	T	C	9: 110,389,625	E499G	possibly damaging	Het
Pwp1	A	G	10: 85,884,567	H356R	probably benign	Het
Rbsn	G	T	6: 92,194,019	T307K	probably benign	Het
Rnf19a	G	A	15: 36,265,469	Q161*	probably null	Het
Scin	T	C	12: 40,084,337	D236G	possibly damaging	Het
Setd1a	G	A	7: 127,786,386	R755H	possibly damaging	Het
Sik3	C	T	9: 46,212,437	T1178I	probably benign	Het
Tex26	C	T	5: 149,470,361	R272C	probably damaging	Het
Trim60	T	A	8: 65,000,813	K261N	possibly damaging	Het
Tspan9	A	G	6: 127,967,109	I76T	probably damaging	Het
Ttn	T	A	2: 76,758,489	Y21412F	probably damaging	Het
Ttn	A	T	2: 76,880,563	I8409N	unknown	Het
Unc80	T	C	1: 66,606,657		probably null	Het
Ush2a	A	T	1: 188,263,260	Q76L	probably benign	Het
Usp1	G	A	4: 98,931,152	V284I	probably benign	Het
Usp31	A	G	7: 121,707,243	V4A	probably benign	Het
Vmn2r88	G	A	14: 51,410,872		probably benign	Het
Zfp959	G	A	17: 55,897,221	R86K	probably benign	Het

Other mutations in Nck2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
wake	UTSW	1	43554260	missense	probably benign
R0420:Nck2	UTSW	1	43554118	missense	probably damaging	1.00
R0503:Nck2	UTSW	1	43533568	start codon destroyed	probably null	0.96
R0538:Nck2	UTSW	1	43569144	splice site	probably benign
R1080:Nck2	UTSW	1	43533581	missense	probably benign	0.00
R2509:Nck2	UTSW	1	43554233	missense	probably damaging	1.00
R4029:Nck2	UTSW	1	43554091	missense	probably benign
R4923:Nck2	UTSW	1	43461071	intron	probably benign
R5425:Nck2	UTSW	1	43554392	missense	probably benign	0.05
R6175:Nck2	UTSW	1	43533569	start codon destroyed	probably null	0.96
R6683:Nck2	UTSW	1	43569178	missense	probably benign
R6859:Nck2	UTSW	1	43554351	missense	probably benign	0.24
R7514:Nck2	UTSW	1	43569221	missense	probably benign	0.00
R8021:Nck2	UTSW	1	43554260	missense	probably benign
R8278:Nck2	UTSW	1	43554580	missense	probably damaging	1.00
R9004:Nck2	UTSW	1	43554350	missense
Z1088:Nck2	UTSW	1	43554383	missense	possibly damaging	0.55
Z1177:Nck2	UTSW	1	43554356	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TACGTTTTGGAGGAAGCGGAC -3'
(R):5'- ACTCGCTGTCCCTAATGAGG -3'

Sequencing Primer
(F):5'- GCCCCCAGCTTCCTGAG -3'
(R):5'- TCATTGAGCGCACACTCG -3'

Posted On

2021-11-19