Mutagenetix > Incidental Mutation

Incidental Mutation 'R0420:Nck2'

36958

Institutional Source

Beutler Lab

Gene Symbol

Nck2

Ensembl Gene

ENSMUSG00000066877

Gene Name

non-catalytic region of tyrosine kinase adaptor protein 2

Synonyms

4833426I10Rik, NCKbeta, Grb4

MMRRC Submission

038622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43484643-43609678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43593278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 162 (S162P)

Ref Sequence

ENSEMBL: ENSMUSP00000083611 (fasta)

Gene Model

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

AlphaFold

O55033

Predicted Effect

probably damaging
Transcript: ENSMUST00000086421
AA Change: S162P

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

SMART Domains

Protein: ENSMUSP00000083611
Gene: ENSMUSG00000066877
AA Change: S162P

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

Meta Mutation Damage Score

0.9485

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.2%

Validation Efficiency

100% (76/76)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,991,050 (GRCm39)	V870A	probably benign	Het
Adam6b	A	T	12: 113,453,614 (GRCm39)	M144L	probably benign	Het
Adrb2	T	A	18: 62,312,610 (GRCm39)	I72L	possibly damaging	Het
Ankrd53	A	T	6: 83,740,674 (GRCm39)	H99L	probably damaging	Het
Ap4e1	C	T	2: 126,891,280 (GRCm39)	T17M	probably damaging	Het
Arnt	T	A	3: 95,377,705 (GRCm39)		probably benign	Het
Atp1a3	C	T	7: 24,680,052 (GRCm39)	G884E	probably benign	Het
Atp6v1b1	T	C	6: 83,729,826 (GRCm39)		probably benign	Het
Atp8a2	G	T	14: 60,011,193 (GRCm39)	T971K	probably damaging	Het
BC048562	A	T	9: 108,323,165 (GRCm39)	T167S	probably benign	Het
Brd9	A	G	13: 74,103,592 (GRCm39)	M491V	probably benign	Het
Btnl10	A	T	11: 58,814,277 (GRCm39)	D319V	probably damaging	Het
Cadps	T	A	14: 12,491,800 (GRCm38)	R783S	probably damaging	Het
Ccdc149	A	G	5: 52,557,581 (GRCm39)		probably benign	Het
Ccm2l	A	T	2: 152,912,782 (GRCm39)	D107V	probably null	Het
Cep192	A	G	18: 67,946,964 (GRCm39)	E213G	possibly damaging	Het
Cyp2c37	A	C	19: 39,984,238 (GRCm39)	N242T	probably benign	Het
Dnah17	A	G	11: 117,930,765 (GRCm39)	V3750A	probably damaging	Het
Ehbp1	T	A	11: 22,101,836 (GRCm39)	I231L	probably benign	Het
Emilin3	A	G	2: 160,752,799 (GRCm39)		probably benign	Het
Eya4	T	C	10: 23,031,861 (GRCm39)	N254S	possibly damaging	Het
Fam184b	A	G	5: 45,741,854 (GRCm39)	S126P	probably damaging	Het
Fancd2	T	C	6: 113,513,940 (GRCm39)	L108P	probably damaging	Het
Fgf12	A	T	16: 27,981,281 (GRCm39)	M145K	possibly damaging	Het
Gabbr1	A	G	17: 37,357,654 (GRCm39)	N23S	possibly damaging	Het
Ggt1	T	A	10: 75,412,047 (GRCm39)		probably benign	Het
Gm6434	T	A	7: 25,581,786 (GRCm39)		noncoding transcript	Het
Grik4	A	T	9: 42,533,392 (GRCm39)	L376*	probably null	Het
Gvin3	T	A	7: 106,203,090 (GRCm39)	L51F	probably damaging	Het
Gzf1	A	G	2: 148,525,753 (GRCm39)	T75A	probably benign	Het
Hcn1	T	C	13: 118,111,911 (GRCm39)	I625T	unknown	Het
Hhat	C	T	1: 192,235,242 (GRCm39)		probably null	Het
Ifit1bl1	T	C	19: 34,571,914 (GRCm39)	E181G	probably damaging	Het
Kif21a	T	C	15: 90,852,257 (GRCm39)		probably benign	Het
Lrrc45	A	C	11: 120,606,045 (GRCm39)	S118R	probably damaging	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Ms4a5	A	G	19: 11,261,018 (GRCm39)	L47S	probably damaging	Het
Mynn	A	T	3: 30,661,608 (GRCm39)	N230I	probably benign	Het
Nfat5	T	C	8: 108,094,093 (GRCm39)	F259S	probably damaging	Het
Obox1	T	G	7: 15,290,178 (GRCm39)	S174A	possibly damaging	Het
Ociad1	T	A	5: 73,470,772 (GRCm39)		probably null	Het
Pgbd1	A	T	13: 21,607,336 (GRCm39)	V286E	possibly damaging	Het
Phlpp2	T	C	8: 110,666,567 (GRCm39)	V1032A	probably damaging	Het
Ppm1e	C	T	11: 87,131,440 (GRCm39)	A318T	probably damaging	Het
Prex1	T	A	2: 166,431,491 (GRCm39)	D757V	probably benign	Het
Ptpdc1	C	A	13: 48,742,595 (GRCm39)		probably null	Het
Rbbp5	T	G	1: 132,421,582 (GRCm39)	I94R	possibly damaging	Het
Rnpc3	A	G	3: 113,415,518 (GRCm39)	V173A	probably benign	Het
Sgsm1	A	T	5: 113,411,625 (GRCm39)	N700K	probably benign	Het
Slco1a8	T	G	6: 141,931,203 (GRCm39)		probably benign	Het
Sox14	T	A	9: 99,757,175 (GRCm39)	H188L	probably damaging	Het
Spmip11	A	G	15: 98,468,975 (GRCm39)	S17G	probably benign	Het
Supt5	T	A	7: 28,016,754 (GRCm39)		probably benign	Het
Synpo	A	G	18: 60,735,490 (GRCm39)	S819P	probably damaging	Het
Tenm2	A	G	11: 36,097,951 (GRCm39)		probably benign	Het
Tenm4	T	C	7: 96,522,973 (GRCm39)	V1468A	possibly damaging	Het
Tiam2	A	G	17: 3,553,193 (GRCm39)	N83S	probably benign	Het
Tle6	T	C	10: 81,431,145 (GRCm39)		probably benign	Het
Tm2d2	T	G	8: 25,508,130 (GRCm39)	N91K	probably damaging	Het
Tmem132d	T	G	5: 127,941,710 (GRCm39)	Q463H	probably benign	Het
Tmf1	A	G	6: 97,153,102 (GRCm39)	S324P	probably damaging	Het
Tnc	T	C	4: 63,918,396 (GRCm39)	T1172A	probably benign	Het
Usp17lb	A	T	7: 104,489,746 (GRCm39)	C393S	probably benign	Het
Usp42	G	A	5: 143,700,616 (GRCm39)	L1136F	probably damaging	Het
Vmn2r92	T	G	17: 18,389,183 (GRCm39)	M499R	probably benign	Het
Vps54	T	A	11: 21,261,071 (GRCm39)		probably benign	Het
Wdr6	C	T	9: 108,450,300 (GRCm39)	R1076H	probably benign	Het
Wdr72	T	A	9: 74,118,039 (GRCm39)	M917K	possibly damaging	Het
Wee2	T	C	6: 40,433,929 (GRCm39)	V281A	probably benign	Het
Zc3h6	A	G	2: 128,856,747 (GRCm39)	D609G	probably benign	Het
Zfp345	G	A	2: 150,315,163 (GRCm39)	H125Y	possibly damaging	Het
Zhx2	A	G	15: 57,685,236 (GRCm39)	K202E	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het

Other mutations in Nck2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
wake	UTSW	1	43,593,420 (GRCm39)	missense	probably benign
R0503:Nck2	UTSW	1	43,572,728 (GRCm39)	start codon destroyed	probably null	0.96
R0538:Nck2	UTSW	1	43,608,304 (GRCm39)	splice site	probably benign
R1080:Nck2	UTSW	1	43,572,741 (GRCm39)	missense	probably benign	0.00
R2509:Nck2	UTSW	1	43,593,393 (GRCm39)	missense	probably damaging	1.00
R4029:Nck2	UTSW	1	43,593,251 (GRCm39)	missense	probably benign
R4923:Nck2	UTSW	1	43,500,231 (GRCm39)	intron	probably benign
R5425:Nck2	UTSW	1	43,593,552 (GRCm39)	missense	probably benign	0.05
R6175:Nck2	UTSW	1	43,572,729 (GRCm39)	start codon destroyed	probably null	0.96
R6683:Nck2	UTSW	1	43,608,338 (GRCm39)	missense	probably benign
R6859:Nck2	UTSW	1	43,593,511 (GRCm39)	missense	probably benign	0.24
R7514:Nck2	UTSW	1	43,608,381 (GRCm39)	missense	probably benign	0.00
R8021:Nck2	UTSW	1	43,593,420 (GRCm39)	missense	probably benign
R8278:Nck2	UTSW	1	43,593,740 (GRCm39)	missense	probably damaging	1.00
R9004:Nck2	UTSW	1	43,593,510 (GRCm39)	missense
R9063:Nck2	UTSW	1	43,593,503 (GRCm39)	missense	possibly damaging	0.91
R9559:Nck2	UTSW	1	43,593,207 (GRCm39)	missense	probably damaging	1.00
R9746:Nck2	UTSW	1	43,572,892 (GRCm39)	nonsense	probably null
Z1088:Nck2	UTSW	1	43,593,543 (GRCm39)	missense	possibly damaging	0.55
Z1177:Nck2	UTSW	1	43,593,516 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACATCCCAGCCTTTGTCAAGTTCG -3'
(R):5'- GTCACGTTGCCATAGTACCACTCC -3'

Sequencing Primer
(F):5'- CTTTGTCAAGTTCGCCTACG -3'
(R):5'- GAACAACCACGTAGTTTTTGGG -3'

Posted On

2013-05-09