Mutagenetix > Incidental Mutation

Incidental Mutation 'R0033:Stap2'

64565

Institutional Source

Beutler Lab

Gene Symbol

Stap2

Ensembl Gene

ENSMUSG00000038781

Gene Name

signal transducing adaptor family member 2

Synonyms

STAP-2

MMRRC Submission

038327-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0033 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

56304077-56312584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56306976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 234 (V234M)

Ref Sequence

ENSEMBL: ENSMUSP00000038130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011733] [ENSMUST00000043785]

AlphaFold

Q8R0L1

Predicted Effect

probably benign
Transcript: ENSMUST00000011733

SMART Domains

Protein: ENSMUSP00000011733
Gene: ENSMUSG00000011589

Domain	Start	End	E-Value	Type
BBC	4	130	7.61e-9	SMART
FN3	165	255	2.96e-4	SMART
Pfam:SPRY	355	473	6.3e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000043785
AA Change: V234M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038130
Gene: ENSMUSG00000038781
AA Change: V234M

Domain	Start	End	E-Value	Type
PH	20	120	1.22e-3	SMART
SH2	150	239	2.58e-3	SMART
low complexity region	278	297	N/A	INTRINSIC
low complexity region	302	312	N/A	INTRINSIC
low complexity region	343	365	N/A	INTRINSIC

Meta Mutation Damage Score

0.4249

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 93.3%

Validation Efficiency

100% (81/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and display no apparent abnormalities in most organs at the gross and histological level. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,115,794 (GRCm39)	F110L	probably damaging	Het
Agr3	C	T	12: 35,978,329 (GRCm39)	T14M	possibly damaging	Het
Ankib1	A	C	5: 3,819,588 (GRCm39)	D110E	possibly damaging	Het
Auts2	G	C	5: 131,468,931 (GRCm39)	D571E	probably damaging	Het
Cacna1d	T	A	14: 29,827,446 (GRCm39)	Q993L	probably damaging	Het
Cdkn3	C	A	14: 47,006,329 (GRCm39)	Y141*	probably null	Het
Ceacam12	T	G	7: 17,803,385 (GRCm39)		probably benign	Het
Celf1	T	C	2: 90,831,798 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,729,967 (GRCm39)	S1780P	probably damaging	Het
Csf3r	A	G	4: 125,925,677 (GRCm39)	T151A	probably benign	Het
Ctss	G	A	3: 95,452,888 (GRCm39)		probably benign	Het
Emilin2	G	T	17: 71,582,009 (GRCm39)	T239K	probably benign	Het
Erp44	T	C	4: 48,241,289 (GRCm39)		probably benign	Het
Fbxl4	T	C	4: 22,377,017 (GRCm39)	V151A	probably damaging	Het
Fer1l4	G	A	2: 155,866,026 (GRCm39)		probably benign	Het
Gm43302	T	C	5: 105,424,710 (GRCm39)	D310G	probably benign	Het
Gstk1	A	G	6: 42,223,737 (GRCm39)		probably benign	Het
Hapln1	A	T	13: 89,749,932 (GRCm39)	Q159L	probably benign	Het
Hibch	A	G	1: 52,944,610 (GRCm39)	K296R	probably null	Het
Katnip	T	G	7: 125,360,999 (GRCm39)	V103G	possibly damaging	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kdm7a	A	T	6: 39,142,131 (GRCm39)	Y382*	probably null	Het
Kirrel3	A	G	9: 34,912,259 (GRCm39)	I208V	probably benign	Het
Klc4	A	T	17: 46,946,359 (GRCm39)	C489S	probably damaging	Het
Lrrc8a	G	T	2: 30,145,357 (GRCm39)	C57F	probably damaging	Het
Ltbp1	A	G	17: 75,583,504 (GRCm39)	N435D	possibly damaging	Het
Macc1	T	A	12: 119,410,076 (GRCm39)	N281K	probably benign	Het
Myo16	A	T	8: 10,420,955 (GRCm39)	Y265F	probably damaging	Het
Myoc	G	A	1: 162,476,010 (GRCm39)	G238E	probably damaging	Het
Nlrp12	A	C	7: 3,289,037 (GRCm39)	S492A	probably damaging	Het
Obscn	A	G	11: 58,885,572 (GRCm39)		probably benign	Het
Oplah	T	A	15: 76,181,334 (GRCm39)	Q1202L	probably benign	Het
Or5p62	G	T	7: 107,771,134 (GRCm39)	D272E	probably benign	Het
Or9s23	A	G	1: 92,500,982 (GRCm39)	T30A	probably benign	Het
Ppargc1b	G	A	18: 61,440,765 (GRCm39)	R718W	probably damaging	Het
Pramel19	A	T	4: 101,798,881 (GRCm39)	Y284F	probably benign	Het
Pwwp2b	A	T	7: 138,834,844 (GRCm39)	D95V	possibly damaging	Het
Rnf225	T	C	7: 12,662,085 (GRCm39)	L88P	probably damaging	Het
Slc12a1	A	G	2: 125,055,929 (GRCm39)	D820G	probably benign	Het
Slc12a4	G	T	8: 106,674,111 (GRCm39)		probably benign	Het
Slx4	C	T	16: 3,805,864 (GRCm39)	A72T	probably benign	Het
Snrnp200	T	C	2: 127,079,983 (GRCm39)	I1920T	probably damaging	Het
Sv2b	A	G	7: 74,767,489 (GRCm39)	F636L	probably benign	Het
Tdp1	C	T	12: 99,901,311 (GRCm39)	T531I	probably benign	Het
Thra	G	A	11: 98,655,178 (GRCm39)	V353I	probably benign	Het
Tm7sf2	A	G	19: 6,116,452 (GRCm39)		probably benign	Het
Tmx4	A	T	2: 134,442,918 (GRCm39)		probably null	Het
Tnfrsf12a	A	G	17: 23,895,119 (GRCm39)		probably null	Het
Trav6n-5	T	A	14: 53,342,368 (GRCm39)	M14K	probably benign	Het
Ttn	T	A	2: 76,572,624 (GRCm39)	I26090F	probably damaging	Het
Tut1	G	T	19: 8,940,123 (GRCm39)	R369L	probably benign	Het
Uba5	T	A	9: 103,931,347 (GRCm39)	T241S	probably benign	Het
Unc13d	T	C	11: 115,959,991 (GRCm39)	T597A	probably benign	Het
Vmn1r58	A	T	7: 5,413,387 (GRCm39)	I281K	probably damaging	Het
Vmn1r59	A	G	7: 5,457,433 (GRCm39)	V109A	probably benign	Het
Xdh	T	A	17: 74,214,627 (GRCm39)	M773L	probably benign	Het
Zfp64	A	T	2: 168,767,635 (GRCm39)	I659N	possibly damaging	Het

Other mutations in Stap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01578:Stap2	APN	17	56,304,623 (GRCm39)	missense	probably benign	0.00
IGL02087:Stap2	APN	17	56,312,473 (GRCm39)	missense	probably damaging	1.00
IGL02876:Stap2	APN	17	56,306,961 (GRCm39)	missense	probably benign	0.00
IGL03101:Stap2	APN	17	56,309,029 (GRCm39)	missense	probably damaging	1.00
R0345:Stap2	UTSW	17	56,307,097 (GRCm39)	missense	probably damaging	0.98
R3405:Stap2	UTSW	17	56,304,511 (GRCm39)	missense	probably benign	0.30
R3406:Stap2	UTSW	17	56,304,511 (GRCm39)	missense	probably benign	0.30
R3929:Stap2	UTSW	17	56,310,156 (GRCm39)	missense	probably damaging	1.00
R4210:Stap2	UTSW	17	56,304,827 (GRCm39)	nonsense	probably null
R4543:Stap2	UTSW	17	56,304,604 (GRCm39)	critical splice donor site	probably null
R4934:Stap2	UTSW	17	56,304,901 (GRCm39)	missense	possibly damaging	0.69
R5748:Stap2	UTSW	17	56,307,475 (GRCm39)	splice site	probably null
R6228:Stap2	UTSW	17	56,306,976 (GRCm39)	missense	probably damaging	1.00
R6617:Stap2	UTSW	17	56,306,746 (GRCm39)	missense	probably benign
R7092:Stap2	UTSW	17	56,309,954 (GRCm39)	missense	probably benign	0.00
R7665:Stap2	UTSW	17	56,304,909 (GRCm39)	missense	probably benign	0.00
R7879:Stap2	UTSW	17	56,309,023 (GRCm39)	missense	probably benign	0.45
R8008:Stap2	UTSW	17	56,304,790 (GRCm39)	missense	probably benign	0.05
R8765:Stap2	UTSW	17	56,310,145 (GRCm39)	missense	probably damaging	1.00
R8930:Stap2	UTSW	17	56,304,895 (GRCm39)	missense	probably benign	0.00
R8932:Stap2	UTSW	17	56,304,895 (GRCm39)	missense	probably benign	0.00
R9444:Stap2	UTSW	17	56,307,907 (GRCm39)	missense	possibly damaging	0.55
R9764:Stap2	UTSW	17	56,309,914 (GRCm39)	missense	probably damaging	1.00
Z1088:Stap2	UTSW	17	56,306,748 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCCCTGGTCCTGCAATGGTCAAG -3'
(R):5'- GTGAAGCGGGCAGGTTCTAAGTATG -3'

Sequencing Primer
(F):5'- TGGTCAAGGAGAGTCACCTG -3'
(R):5'- GCAGGTTCTAAGTATGTGATCGAC -3'

Posted On

2013-08-06