Mutagenetix > Incidental Mutation

Incidental Mutation 'R3405:Stap2'

259353

Institutional Source

Beutler Lab

Gene Symbol

Stap2

Ensembl Gene

ENSMUSG00000038781

Gene Name

signal transducing adaptor family member 2

Synonyms

STAP-2

MMRRC Submission

040623-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3405 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56304077-56312584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56304511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 374 (W374R)

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 benign
Transcript: ENSMUST00000043785
AA Change: W374R

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038130
Gene: ENSMUSG00000038781
AA Change: W374R

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (53/53)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Bcorl1	T	A	X: 47,459,884 (GRCm39)	M1139K	probably benign	Het
C2cd3	T	C	7: 100,039,373 (GRCm39)	S191P	probably benign	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Col3a1	G	A	1: 45,377,913 (GRCm39)		probably benign	Het
Cubn	C	T	2: 13,338,319 (GRCm39)	V2350I	probably benign	Het
Dhodh	G	A	8: 110,330,107 (GRCm39)	R86*	probably null	Het
Dnhd1	C	T	7: 105,343,968 (GRCm39)	Q1771*	probably null	Het
Dpt	A	C	1: 164,624,500 (GRCm39)	E67A	probably damaging	Het
Eif2ak2	A	G	17: 79,166,068 (GRCm39)		probably benign	Het
Exo1	A	G	1: 175,733,536 (GRCm39)	K787E	possibly damaging	Het
Fancm	T	C	12: 65,122,546 (GRCm39)	S23P	probably benign	Het
Fmn1	A	G	2: 113,194,693 (GRCm39)	E131G	unknown	Het
Gm5612	A	T	9: 18,339,149 (GRCm39)		probably benign	Het
Gsdma	T	C	11: 98,563,964 (GRCm39)		probably benign	Het
Hormad2	T	G	11: 4,374,302 (GRCm39)	Q88P	probably damaging	Het
Immp2l	T	A	12: 41,160,846 (GRCm39)	L48*	probably null	Het
Kcne4	C	T	1: 78,795,688 (GRCm39)	A112V	possibly damaging	Het
Lamb1	C	T	12: 31,337,528 (GRCm39)	R372C	probably damaging	Het
Lrrc30	A	G	17: 67,939,175 (GRCm39)	L135P	probably damaging	Het
Ltn1	A	T	16: 87,213,103 (GRCm39)	V486D	probably damaging	Het
Mab21l3	C	A	3: 101,730,847 (GRCm39)	V131F	probably damaging	Het
Map3k4	A	T	17: 12,475,668 (GRCm39)	F809Y	probably damaging	Het
Mki67	T	A	7: 135,309,204 (GRCm39)	T416S	probably benign	Het
Mlst8	A	T	17: 24,697,099 (GRCm39)	M56K	probably benign	Het
Mmp9	A	G	2: 164,791,310 (GRCm39)	Y160C	probably damaging	Het
Mslnl	A	G	17: 25,965,155 (GRCm39)	Y507C	probably damaging	Het
Myl12a	A	T	17: 71,301,737 (GRCm39)	M130K	probably benign	Het
Myrfl	A	G	10: 116,658,770 (GRCm39)	F396L	probably damaging	Het
Nalf2	A	G	X: 98,889,109 (GRCm39)	I325V	probably benign	Het
Ncf2	A	G	1: 152,701,698 (GRCm39)		probably benign	Het
Nlrp9c	T	A	7: 26,084,707 (GRCm39)	I291F	probably benign	Het
Nrp1	T	A	8: 129,224,569 (GRCm39)	Y777*	probably null	Het
Ogdh	T	C	11: 6,299,462 (GRCm39)	V776A	probably damaging	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Plg	G	T	17: 12,622,096 (GRCm39)	S472I	possibly damaging	Het
Pnlip	A	G	19: 58,669,191 (GRCm39)	T397A	probably benign	Het
Rbfox3	T	A	11: 118,387,283 (GRCm39)	Q277L	possibly damaging	Het
Senp7	T	A	16: 56,008,640 (GRCm39)	W1007R	probably damaging	Het
Szt2	A	G	4: 118,251,217 (GRCm39)	V297A	probably benign	Het
Thada	A	T	17: 84,538,213 (GRCm39)		probably benign	Het
Ticrr	G	C	7: 79,344,539 (GRCm39)	S1468T	probably benign	Het
Uvssa	G	T	5: 33,547,162 (GRCm39)	G243C	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vwa8	T	A	14: 79,401,660 (GRCm39)		probably benign	Het
Zfp609	A	T	9: 65,608,454 (GRCm39)	M1142K	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
R0033:Stap2	UTSW	17	56,306,976 (GRCm39)	missense	probably damaging	1.00
R0345:Stap2	UTSW	17	56,307,097 (GRCm39)	missense	probably damaging	0.98
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'- TCCAGCTCAGCGGTGATATC -3'
(R):5'- GTAGCACCCTGTGACATCTCTC -3'

Sequencing Primer
(F):5'- GTGATATCCCCAAGTCCTGGTG -3'
(R):5'- GCAGTGTCTCTCTCCAGTCAGG -3'

Posted On

2015-01-23