Mutagenetix > Incidental Mutation

Incidental Mutation 'R7514:Nck2'

582266

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

MMRRC Submission

045587-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7514 (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 43569221 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 341 (V341A)

Ref Sequence

ENSEMBL: ENSMUSP00000083611 (fasta)

Gene Model

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

AlphaFold

O55033

Predicted Effect

probably benign
Transcript: ENSMUST00000086421
AA Change: V341A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000083611
Gene: ENSMUSG00000066877
AA Change: V341A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	G	11: 72,195,802	L261P	probably damaging	Het
A4gnt	A	G	9: 99,620,545	I253V	probably benign	Het
Acap2	A	T	16: 31,154,567		probably null	Het
Adora2b	G	T	11: 62,265,320	M198I	probably damaging	Het
Akap5	C	A	12: 76,328,529	T245K	probably benign	Het
Aldh1a2	T	C	9: 71,284,963	I399T	probably damaging	Het
Ank2	G	A	3: 127,025,603	S473L	probably benign	Het
Anln	A	T	9: 22,360,857	D655E	probably damaging	Het
Arhgef10	T	C	8: 14,975,956	V820A	probably benign	Het
Arid1b	A	G	17: 5,341,714	K1787E	probably benign	Het
Art4	T	C	6: 136,854,741	H134R	probably benign	Het
Borcs6	G	A	11: 69,060,584	V263M	probably damaging	Het
C8a	A	T	4: 104,846,050	M314K	possibly damaging	Het
Cbfa2t3	T	G	8: 122,635,126	M386L	probably damaging	Het
Ccdc170	T	A	10: 4,546,839	V459E	probably benign	Het
Cdh4	T	A	2: 179,890,843	N699K	possibly damaging	Het
Cdk12	T	C	11: 98,222,658	L756P	unknown	Het
Chsy1	A	G	7: 66,172,120	D701G	probably damaging	Het
Cnot9	A	G	1: 74,528,762	T270A	probably benign	Het
Crat	C	T	2: 30,404,565	R497Q	probably benign	Het
Cyb5r1	A	G	1: 134,410,530	E228G	probably damaging	Het
D630003M21Rik	A	G	2: 158,217,353	L209P	probably damaging	Het
Dennd2c	T	A	3: 103,163,062	D791E	probably benign	Het
Dnah14	T	C	1: 181,628,067	I919T	probably damaging	Het
Dpp8	T	C	9: 65,078,754	L842S	probably damaging	Het
Ern1	A	G	11: 106,409,893		probably null	Het
Exo1	T	C	1: 175,906,666		probably null	Het
Fam161b	T	G	12: 84,357,738	E56A	possibly damaging	Het
Fbrsl1	T	C	5: 110,432,933	T153A	probably benign	Het
Fcgr3	T	G	1: 171,059,343	D4A	probably benign	Het
Gltp	C	T	5: 114,670,460	A193T	probably benign	Het
Gm10031	A	G	1: 156,524,754	D175G	probably benign	Het
Gm13178	A	T	4: 144,703,228	V397D	possibly damaging	Het
Gm3159	A	T	14: 4,399,690	S142C	probably damaging	Het
Gphn	T	C	12: 78,626,165	V485A	probably damaging	Het
Grik2	A	T	10: 49,523,808	N275K	probably damaging	Het
Gstt3	G	T	10: 75,776,791	Q102K	probably damaging	Het
Hivep3	T	A	4: 120,096,855	F789L	possibly damaging	Het
Ing5	A	G	1: 93,816,442	N157D	possibly damaging	Het
Itga3	C	T	11: 95,065,896	W177*	probably null	Het
Jag2	T	C	12: 112,929,052	T83A	probably benign	Het
Krt90	G	A	15: 101,553,170	T532I	unknown	Het
Lcn2	A	G	2: 32,387,849		probably null	Het
Lrig2	A	G	3: 104,465,760	S602P	probably damaging	Het
Lsm1	A	C	8: 25,792,209	R33S	probably damaging	Het
Mast4	A	T	13: 102,787,426	Y492*	probably null	Het
Mcm3	A	T	1: 20,805,896	L658Q	probably benign	Het
Myh4	G	A	11: 67,243,322		probably null	Het
Nucb1	T	C	7: 45,501,718		probably null	Het
Nup210l	G	C	3: 90,210,459		probably null	Het
Olfr1039	A	T	2: 86,131,628	F12I	probably damaging	Het
Olfr3	A	G	2: 36,812,639	I151T	probably benign	Het
Olfr837	A	T	9: 19,137,865	S291C	possibly damaging	Het
Olfr912	T	A	9: 38,582,051	M258K	probably damaging	Het
Olfr921	G	A	9: 38,775,678	C141Y	probably damaging	Het
Pla2g4a	G	A	1: 149,851,362	P556S	probably damaging	Het
Plat	T	C	8: 22,775,642	C234R	probably damaging	Het
Ppfia1	T	C	7: 144,517,713	I321V	probably benign	Het
Prrc1	T	A	18: 57,363,253	V92E	probably benign	Het
Prss3	A	G	6: 41,373,914	V214A	probably damaging	Het
Ptprg	G	T	14: 12,179,342	K786N	possibly damaging	Het
Rabgap1	G	T	2: 37,537,342	G645V	probably damaging	Het
Rfx4	T	C	10: 84,880,226	S470P	probably damaging	Het
Rin3	C	T	12: 102,369,650	Q607*	probably null	Het
Sema3a	A	G	5: 13,523,126	H207R	probably benign	Het
Serpinb12	G	A	1: 106,950,804	E181K	probably damaging	Het
Serpinb6c	G	A	13: 33,897,403	Q88*	probably null	Het
Shmt1	A	C	11: 60,801,986	C90W	probably damaging	Het
Slc16a13	C	T	11: 70,218,884	V264M	probably damaging	Het
Slc17a8	G	T	10: 89,592,107	P286Q	probably damaging	Het
Slc27a6	C	T	18: 58,612,221	Q576*	probably null	Het
Slc30a9	T	C	5: 67,348,078	S470P	possibly damaging	Het
Slc44a2	G	T	9: 21,342,472	K136N	possibly damaging	Het
Smarca5	A	T	8: 80,717,534	H534Q	probably damaging	Het
Son	T	G	16: 91,654,860	L165R	probably damaging	Het
Sox10	G	A	15: 79,156,221	P373L	probably benign	Het
Sp100	C	T	1: 85,681,139	R330*	probably null	Het
Srrm4	A	G	5: 116,446,511	L500P	probably damaging	Het
Tap1	T	C	17: 34,196,665	L689P	probably damaging	Het
Tfg	A	G	16: 56,705,609		probably null	Het
Tjp2	C	T	19: 24,111,522	V677I	probably benign	Het
Tmprss11g	T	G	5: 86,497,317	D85A	probably damaging	Het
Tnfsf9	T	C	17: 57,107,238	S222P	probably damaging	Het
Trank1	A	G	9: 111,364,756	N616S	probably damaging	Het
Tubgcp6	C	A	15: 89,120,525	W297L	probably damaging	Het
Twist1	T	C	12: 33,958,356	S127P	probably damaging	Het
Ubr4	T	C	4: 139,452,655	I247T	unknown	Het
Ubr5	G	A	15: 37,988,237	T2153M		Het
Utrn	A	G	10: 12,698,089	V1079A	probably benign	Het
Vcan	T	C	13: 89,704,118	T908A	probably damaging	Het
Vmn2r104	A	G	17: 20,029,529	F827L	probably damaging	Het
Vmn2r111	T	A	17: 22,548,399	T706S	probably benign	Het
Vmn2r114	T	C	17: 23,308,061	D499G	probably null	Het
Vmn2r92	T	C	17: 18,171,271	S512P	probably damaging	Het
Vps4b	A	T	1: 106,780,502		probably null	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Wnt10b	T	C	15: 98,774,164	Q224R	probably benign	Het
Ylpm1	C	T	12: 85,030,494	P1331L	possibly damaging	Het
Zfhx4	G	A	3: 5,242,207	M164I	possibly damaging	Het
Zfp51	A	G	17: 21,463,500	T126A	probably benign	Het
Zfp609	A	G	9: 65,706,136	V339A	probably benign	Het
Zfp687	C	T	3: 95,007,530	R1220H	probably damaging	Het
Zfyve21	C	T	12: 111,823,815	L84F	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
R8021:Nck2	UTSW	1	43554260	missense	probably benign
R8278:Nck2	UTSW	1	43554580	missense	probably damaging	1.00
R9004:Nck2	UTSW	1	43554350	missense
R9063:Nck2	UTSW	1	43554343	missense	possibly damaging	0.91
R9559:Nck2	UTSW	1	43554047	missense	probably damaging	1.00
R9746:Nck2	UTSW	1	43533732	nonsense	probably null
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'- TCTGCAGACACTGGGTGAAC -3'
(R):5'- GAGGTGATCCAAGCCACATG -3'

Sequencing Primer
(F):5'- AACACTGTGCTTGTTAGGCAGAC -3'
(R):5'- CAGAAGTGCTGGGCTCTG -3'

Posted On

2019-10-17