Mutagenetix > Incidental Mutation

Incidental Mutation 'R2509:Nck2'

251663

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

040415-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2509 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43484643-43609678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43593393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 200 (V200E)

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: V200E

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

SMART Domains

Protein: ENSMUSP00000083611
Gene: ENSMUSG00000066877
AA Change: V200E

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (105/109)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,200,102 (GRCm39)	I497V	probably benign	Het
4930571K23Rik	C	A	7: 124,968,311 (GRCm39)		noncoding transcript	Het
Abca17	G	T	17: 24,508,587 (GRCm39)		probably benign	Het
Ablim1	C	T	19: 57,140,791 (GRCm39)	R196Q	probably damaging	Het
Acot11	T	C	4: 106,612,516 (GRCm39)	I379V	possibly damaging	Het
Acot4	G	A	12: 84,088,647 (GRCm39)	G165D	probably damaging	Het
Agrn	A	T	4: 156,250,881 (GRCm39)		probably null	Het
Ahctf1	T	C	1: 179,598,258 (GRCm39)	S945G	possibly damaging	Het
Akr1c13	C	T	13: 4,248,583 (GRCm39)	R263C	probably damaging	Het
Arfgap1	T	A	2: 180,615,846 (GRCm39)		probably benign	Het
Arhgef3	A	G	14: 27,101,633 (GRCm39)	K103R	probably damaging	Het
Cabp1	A	T	5: 115,310,843 (GRCm39)	N211K	probably damaging	Het
Cacna1c	T	A	6: 118,711,943 (GRCm39)	D261V	probably damaging	Het
Car11	G	A	7: 45,350,783 (GRCm39)	G93E	probably damaging	Het
Card10	A	G	15: 78,664,473 (GRCm39)	I821T	probably benign	Het
Cast	T	C	13: 74,885,735 (GRCm39)	I277V	probably benign	Het
Cenpj	T	C	14: 56,769,694 (GRCm39)	K1165R	probably null	Het
Cenpk	A	G	13: 104,370,675 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,394,169 (GRCm39)	K353E	probably benign	Het
Cmya5	T	C	13: 93,230,066 (GRCm39)	Q1674R	probably benign	Het
Cnnm1	T	A	19: 43,430,325 (GRCm39)	V481D	probably damaging	Het
Cracdl	T	C	1: 37,664,381 (GRCm39)	M506V	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp2c50	G	A	19: 40,079,013 (GRCm39)	V119I	probably benign	Het
Dnah7b	A	G	1: 46,234,447 (GRCm39)	T1460A	probably damaging	Het
Dnah8	G	A	17: 30,994,019 (GRCm39)	D3379N	probably benign	Het
Dnajc4	C	T	19: 6,968,111 (GRCm39)	R55H	probably damaging	Het
Ebf4	C	T	2: 130,148,482 (GRCm39)	R98*	probably null	Het
Epha4	G	A	1: 77,488,339 (GRCm39)	A47V	possibly damaging	Het
Ercc8	T	C	13: 108,320,251 (GRCm39)		probably benign	Het
Exo1	T	C	1: 175,733,399 (GRCm39)	F75S	probably damaging	Het
Fam168a	G	T	7: 100,483,391 (GRCm39)		probably null	Het
Fat3	G	A	9: 15,836,310 (GRCm39)	R4065W	possibly damaging	Het
Gm5431	T	A	11: 48,779,536 (GRCm39)	N740I	probably benign	Het
Gm5900	T	A	7: 104,599,571 (GRCm39)		noncoding transcript	Het
Gpi1	A	G	7: 33,905,348 (GRCm39)	S359P	probably damaging	Het
Gpr156	A	G	16: 37,768,149 (GRCm39)	R22G	probably benign	Het
Greb1	A	G	12: 16,774,923 (GRCm39)	V158A	probably damaging	Het
Grin2c	T	A	11: 115,141,894 (GRCm39)	K842*	probably null	Het
Gsta5	T	A	9: 78,202,089 (GRCm39)	M1K	probably null	Het
Hnf4a	T	A	2: 163,408,161 (GRCm39)	L329Q	probably damaging	Het
Hsp90ab1	A	G	17: 45,880,267 (GRCm39)	L92P	probably damaging	Het
Ido1	T	A	8: 25,074,501 (GRCm39)	R290*	probably null	Het
Ifnlr1	G	T	4: 135,432,559 (GRCm39)	D332Y	probably damaging	Het
Ift172	T	C	5: 31,420,312 (GRCm39)	N1108S	probably benign	Het
Igkv3-9	T	A	6: 70,565,728 (GRCm39)	M109K	probably benign	Het
Igsf10	T	C	3: 59,239,287 (GRCm39)	D298G	probably damaging	Het
Iqck	T	G	7: 118,475,505 (GRCm39)	M98R	probably benign	Het
Klk1b1	T	C	7: 43,618,803 (GRCm39)	V60A	probably damaging	Het
Krtap1-3	C	T	11: 99,481,653 (GRCm39)	E165K	unknown	Het
Lair1	A	G	7: 4,013,782 (GRCm39)	L155P	probably damaging	Het
Maco1	A	G	4: 134,531,699 (GRCm39)	S657P	probably damaging	Het
Mast4	G	T	13: 102,990,350 (GRCm39)	S57Y	probably damaging	Het
Mical3	T	C	6: 121,011,118 (GRCm39)	H360R	probably damaging	Het
Muc5b	A	T	7: 141,412,798 (GRCm39)	N1915Y	unknown	Het
Myh1	A	G	11: 67,096,423 (GRCm39)	I301V	probably benign	Het
Odad4	T	G	11: 100,444,361 (GRCm39)	L222R	probably damaging	Het
Or2y1b	T	G	11: 49,209,048 (GRCm39)	L225R	probably damaging	Het
Or4b12	T	C	2: 90,096,030 (GRCm39)	Y248C	possibly damaging	Het
Or4c109	T	G	2: 88,817,775 (GRCm39)	Y257S	probably damaging	Het
Or4f60	T	A	2: 111,902,837 (GRCm39)	L30F	probably benign	Het
Or4k38	C	T	2: 111,166,076 (GRCm39)	V116I	probably damaging	Het
Or52n2c	G	A	7: 104,574,894 (GRCm39)	H26Y	probably benign	Het
Or5b101	T	A	19: 13,005,058 (GRCm39)	I212F	probably damaging	Het
Or8b12i	A	G	9: 20,082,525 (GRCm39)	L114P	probably damaging	Het
Otoa	C	T	7: 120,759,695 (GRCm39)	T1099I	probably benign	Het
Pask	T	A	1: 93,258,485 (GRCm39)	I288F	possibly damaging	Het
Pcnx4	T	C	12: 72,613,746 (GRCm39)	W564R	probably damaging	Het
Pip4p1	A	T	14: 51,167,115 (GRCm39)	Y129*	probably null	Het
Pitpnm2	T	C	5: 124,274,389 (GRCm39)	E240G	probably damaging	Het
Ppp1r16b	A	G	2: 158,603,383 (GRCm39)	Y436C	possibly damaging	Het
Pramel27	G	A	4: 143,578,561 (GRCm39)	V274I	probably benign	Het
Prkca	T	C	11: 107,870,032 (GRCm39)	Y37C	probably damaging	Het
Rad18	T	G	6: 112,652,883 (GRCm39)	H238P	possibly damaging	Het
Rap1b	T	A	10: 117,654,444 (GRCm39)	Q1L	probably damaging	Het
Rgs9	T	C	11: 109,159,798 (GRCm39)	Y178C	probably benign	Het
Rpl3l	A	T	17: 24,951,360 (GRCm39)	D87V	possibly damaging	Het
Scrn2	T	C	11: 96,923,992 (GRCm39)	V292A	possibly damaging	Het
Sdad1	A	G	5: 92,453,684 (GRCm39)	Y35H	probably benign	Het
Sez6l2	T	C	7: 126,552,944 (GRCm39)	S177P	probably benign	Het
Sh3bp1	C	T	15: 78,795,706 (GRCm39)	P612S	probably damaging	Het
Shank1	T	C	7: 44,001,148 (GRCm39)	S956P	unknown	Het
Shank1	G	A	7: 44,001,547 (GRCm39)	A1089T	unknown	Het
Shprh	G	A	10: 11,042,468 (GRCm39)	C817Y	probably damaging	Het
Spata22	C	T	11: 73,236,593 (GRCm39)	P300S	probably damaging	Het
Sstr2	A	T	11: 113,515,749 (GRCm39)	I223F	probably damaging	Het
Stom	C	T	2: 35,210,354 (GRCm39)	A217T	probably damaging	Het
Stpg1	T	C	4: 135,263,960 (GRCm39)	V341A	probably benign	Het
Tagap	A	G	17: 8,147,586 (GRCm39)	T99A	probably benign	Het
Tas1r2	A	G	4: 139,387,162 (GRCm39)	N207S	probably damaging	Het
Thbs2	A	G	17: 14,906,105 (GRCm39)	V265A	probably benign	Het
Thyn1	A	G	9: 26,911,316 (GRCm39)	R3G	possibly damaging	Het
Tia1	T	A	6: 86,401,312 (GRCm39)		probably null	Het
Tktl2	A	G	8: 66,965,504 (GRCm39)	E354G	probably benign	Het
Tmc8	A	G	11: 117,683,511 (GRCm39)	T689A	possibly damaging	Het
Tmem11	A	T	11: 60,755,807 (GRCm39)		probably null	Het
Tnik	T	C	3: 28,722,064 (GRCm39)	V1310A	probably damaging	Het
Trappc10	A	G	10: 78,047,357 (GRCm39)	S380P	possibly damaging	Het
Trim8	C	T	19: 46,503,734 (GRCm39)	P429S	probably benign	Het
Ttn	C	A	2: 76,687,756 (GRCm39)		probably benign	Het
Ulk2	T	C	11: 61,678,340 (GRCm39)	Y793C	probably benign	Het
Vill	G	A	9: 118,899,370 (GRCm39)	V337M	possibly damaging	Het
Vps53	C	A	11: 75,957,661 (GRCm39)	V364F	possibly damaging	Het
Zan	A	T	5: 137,454,848 (GRCm39)	I1396N	unknown	Het
Zfa-ps	A	C	10: 52,420,339 (GRCm39)		noncoding transcript	Het
Zfp426	T	C	9: 20,381,977 (GRCm39)	T337A	possibly damaging	Het
Zfp536	T	C	7: 37,267,403 (GRCm39)	E671G	possibly damaging	Het
Zfp985	A	G	4: 147,667,443 (GRCm39)	T104A	possibly damaging	Het

Other mutations in Nck2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
wake	UTSW	1	43,593,420 (GRCm39)	missense	probably benign
R0420:Nck2	UTSW	1	43,593,278 (GRCm39)	missense	probably damaging	1.00
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
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'- AAATGCAGTGATGGCTGGTG -3'
(R):5'- TGTCACGTTGCCATAGTACCAC -3'

Sequencing Primer
(F):5'- TGGCGTGGCAGCTTCAAC -3'
(R):5'- AGAGCAGGCCCATCACTGAG -3'

Posted On

2014-12-04