Mutagenetix > Incidental Mutations

Incidental Mutation 'R9004:Nck2'

685120

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 #

R9004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43444579-43570515 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43554350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 239 (N239I)

Ref Sequence

ENSEMBL: ENSMUSP00000083611 (fasta)

Gene Model

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

AlphaFold

O55033

Predicted Effect

SMART Domains

Protein: ENSMUSP00000083611
Gene: ENSMUSG00000066877
AA Change: N239I

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: 99.4%
20x: 98.3%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,618,335		probably benign	Het
2310057N15Rik	C	A	16: 88,774,098	C18F	probably damaging	Het
Abca7	T	A	10: 80,005,649	M941K	probably damaging	Het
Abcd2	A	G	15: 91,190,848	I254T	probably benign	Het
Abcg8	C	A	17: 84,697,362	T519K	probably benign	Het
Adcy9	A	G	16: 4,288,514	V1149A	probably damaging	Het
Alg10b	A	G	15: 90,225,691	Y69C	probably damaging	Het
Arhgef10l	T	C	4: 140,552,610	D529G	probably damaging	Het
Ascc3	T	A	10: 50,842,180	C1990S	probably benign	Het
BC034090	T	A	1: 155,226,392	N42I	possibly damaging	Het
Bptf	G	A	11: 107,054,887	P2509S	probably damaging	Het
Carmil1	T	A	13: 24,041,679	D1042V	probably damaging	Het
Ccny	A	G	18: 9,332,883	V216A	possibly damaging	Het
Cdr2	T	C	7: 120,958,499	N268D	probably benign	Het
Cep152	T	C	2: 125,611,100	S351G	probably benign	Het
Chrm1	T	C	19: 8,678,545	C205R	possibly damaging	Het
Dalrd3	C	A	9: 108,572,231	D454E	probably benign	Het
Dmbt1	T	C	7: 131,112,069	L1622P	unknown	Het
Eif2s2	A	G	2: 154,878,484	Y172H	probably benign	Het
Ell	T	A	8: 70,578,954	S101T	probably damaging	Het
Faf1	A	G	4: 109,841,353	T337A	probably benign	Het
Fhad1	A	T	4: 141,922,424		probably benign	Het
Gen1	T	C	12: 11,255,021		probably benign	Het
Gfap	A	G	11: 102,891,442	I414T	probably benign	Het
Ginm1	A	C	10: 7,775,255	V129G	probably damaging	Het
Helq	C	T	5: 100,778,732		probably benign	Het
Hoxb3	A	G	11: 96,346,311	D405G	possibly damaging	Het
Hsp90aa1	A	G	12: 110,692,611	V584A	probably damaging	Het
Iglc2	T	C	16: 19,198,675	K59R	probably benign	Het
Inhba	T	C	13: 16,026,941	S363P	probably benign	Het
Kif1c	A	G	11: 70,725,132	K656E	probably benign	Het
Mroh4	G	T	15: 74,614,322	L492I	possibly damaging	Het
Mthfd1	C	T	12: 76,303,980	T712M	probably benign	Het
Naaladl1	C	A	19: 6,105,935	D46E	probably damaging	Het
Nbea	C	T	3: 56,002,938	V1279I	probably benign	Het
Nceh1	T	A	3: 27,239,577	D161E	possibly damaging	Het
Nlrx1	C	T	9: 44,256,347	R751H	probably benign	Het
Olfr1116	T	A	2: 87,269,351	F190Y	possibly damaging	Het
Olfr146	C	A	9: 39,019,284	V86L	probably benign	Het
Olfr910	A	G	9: 38,539,234	Y113C	probably benign	Het
Oscar	A	T	7: 3,616,041	C13S	possibly damaging	Het
Pappa2	T	A	1: 158,936,409	I511F	probably damaging	Het
Pappa2	T	C	1: 158,936,948	D331G	possibly damaging	Het
Pde4c	C	T	8: 70,746,866	S265L	possibly damaging	Het
Pex1	A	G	5: 3,612,914	S502G	probably benign	Het
Pigl	A	G	11: 62,512,953	Y237C	probably damaging	Het
Pkd1	A	T	17: 24,580,447	Q2880L	probably benign	Het
Pkhd1l1	A	T	15: 44,543,372	H2335L	probably benign	Het
Ppp1r17	A	G	6: 56,031,528	E151G	probably damaging	Het
Ppp1r27	A	G	11: 120,551,023	Y11H	probably damaging	Het
Prss54	C	A	8: 95,565,509	K147N	possibly damaging	Het
Ptchd3	T	A	11: 121,841,861	F526I	possibly damaging	Het
Ptprt	T	C	2: 161,766,394	N661D	probably benign	Het
Rfpl4b	T	C	10: 38,821,775		probably benign	Het
Sdad1	T	C	5: 92,291,961	T402A	probably benign	Het
Stk32c	T	C	7: 139,122,943	D178G	probably damaging	Het
Tas2r119	T	C	15: 32,177,963	L225P	probably damaging	Het
Tdpoz4	A	T	3: 93,796,711	E105V	probably benign	Het
Tlk1	A	G	2: 70,721,946	I520T	probably damaging	Het
Tmf1	A	G	6: 97,175,777	V445A	probably benign	Het
Tomm6	T	C	17: 47,687,908	D40G	possibly damaging	Het
Traf6	C	A	2: 101,690,098	Q164K	probably benign	Het
Tspoap1	A	G	11: 87,779,458	H150R		Het
Ube2g2	A	T	10: 77,643,600	M126L	probably benign	Het
Unc45b	A	G	11: 82,928,689	D496G	probably damaging	Het
Vmn1r74	A	C	7: 11,846,913	I47L	probably benign	Het
Vmn2r88	A	T	14: 51,413,167	L112F		Het
Wwc2	A	C	8: 47,920,697	L45V	probably damaging	Het
Zfp459	A	C	13: 67,408,595	I123R	probably damaging	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
R9063:Nck2	UTSW	1	43554343	missense	possibly damaging	0.91
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'- AACTACGTTTTGGAGGAAGCG -3'
(R):5'- ACTCGCTGTCCCTAATGAGG -3'

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

Posted On

2021-10-11