Mutagenetix > Incidental Mutation

Incidental Mutation 'R0345:Stap2'

38416

Institutional Source

Beutler Lab

Gene Symbol

Stap2

Ensembl Gene

ENSMUSG00000038781

Gene Name

signal transducing adaptor family member 2

Synonyms

STAP-2

MMRRC Submission

038552-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0345 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

56304077-56312584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56307097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 217 (V217A)

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: V217A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038130
Gene: ENSMUSG00000038781
AA Change: V217A

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

0.2893

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (58/58)

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
1700129C05Rik	T	C	14: 59,377,079 (GRCm39)	N105D	possibly damaging	Het
A2m	T	C	6: 121,615,231 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,415,198 (GRCm39)	N641S	probably damaging	Het
Aff4	T	A	11: 53,263,708 (GRCm39)	S243T	probably benign	Het
Agap2	A	G	10: 126,923,764 (GRCm39)	H713R	unknown	Het
Ap2a2	T	A	7: 141,211,206 (GRCm39)	M914K	probably damaging	Het
Bcl7c	A	T	7: 127,307,635 (GRCm39)	M22K	possibly damaging	Het
Cacna1i	A	T	15: 80,256,663 (GRCm39)	D1019V	probably damaging	Het
Cd7	T	C	11: 120,929,012 (GRCm39)	T80A	probably benign	Het
Chia1	T	C	3: 106,029,755 (GRCm39)	Y130H	probably damaging	Het
Chmp6	T	C	11: 119,808,872 (GRCm39)		probably benign	Het
Chrnb4	A	G	9: 54,942,878 (GRCm39)	V132A	probably benign	Het
Ctnna3	A	G	10: 63,402,619 (GRCm39)	D110G	probably benign	Het
Cyp2d37-ps	A	T	15: 82,573,975 (GRCm39)		noncoding transcript	Het
Dnah6	T	C	6: 72,998,240 (GRCm39)	M4061V	probably benign	Het
Dydc2	C	A	14: 40,783,903 (GRCm39)	M73I	probably benign	Het
Egflam	G	T	15: 7,319,475 (GRCm39)		probably null	Het
Fam228b	C	T	12: 4,798,351 (GRCm39)	V151I	possibly damaging	Het
Fanca	C	T	8: 124,031,552 (GRCm39)	V380I	probably damaging	Het
Gbp2b	T	C	3: 142,313,944 (GRCm39)	L408S	probably damaging	Het
Kcnh4	T	C	11: 100,648,507 (GRCm39)	S66G	probably benign	Het
Kcnq3	A	T	15: 65,892,154 (GRCm39)	V407D	possibly damaging	Het
Kif24	A	T	4: 41,428,413 (GRCm39)	D182E	probably benign	Het
Llgl2	A	G	11: 115,740,818 (GRCm39)		probably benign	Het
Lmo7	T	A	14: 102,114,313 (GRCm39)	N140K	probably damaging	Het
Myo5c	A	G	9: 75,204,701 (GRCm39)	E1518G	probably damaging	Het
Myof	A	T	19: 38,012,793 (GRCm39)	N47K	probably damaging	Het
Nckap1	G	T	2: 80,375,321 (GRCm39)		probably benign	Het
Nlrp1a	C	A	11: 71,014,501 (GRCm39)	G250W	probably damaging	Het
Nol4l	T	A	2: 153,253,672 (GRCm39)	S390C	probably benign	Het
Or2ag2b	T	C	7: 106,417,908 (GRCm39)	F206S	probably benign	Het
Or52e18	T	A	7: 104,609,388 (GRCm39)	M184L	probably damaging	Het
Or5ak22	T	C	2: 85,230,685 (GRCm39)	Q64R	possibly damaging	Het
Or5h26	G	A	16: 58,988,269 (GRCm39)	P79L	possibly damaging	Het
Plec	G	T	15: 76,061,367 (GRCm39)	P2886T	probably damaging	Het
Prdm16	T	C	4: 154,425,568 (GRCm39)	Y738C	probably benign	Het
Ptprz1	A	G	6: 23,016,164 (GRCm39)	Y820C	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sgce	G	A	6: 4,718,019 (GRCm39)	P98S	probably damaging	Het
Siglecf	T	C	7: 43,001,368 (GRCm39)	F112S	probably damaging	Het
Slc6a16	C	T	7: 44,908,672 (GRCm39)	A84V	possibly damaging	Het
Sntb2	T	C	8: 107,728,170 (GRCm39)	S373P	probably damaging	Het
Sorcs2	C	T	5: 36,185,218 (GRCm39)	V953I	probably benign	Het
Spata31f1a	T	C	4: 42,851,116 (GRCm39)	I347V	probably benign	Het
St7l	T	C	3: 104,803,125 (GRCm39)		probably benign	Het
Stxbp5l	A	T	16: 37,108,670 (GRCm39)	D215E	probably damaging	Het
Synm	C	T	7: 67,385,569 (GRCm39)	V256I	probably benign	Het
Syt13	A	C	2: 92,776,412 (GRCm39)	E233A	possibly damaging	Het
Tecta	T	A	9: 42,295,514 (GRCm39)	E327V	probably damaging	Het
Tent5b	A	T	4: 133,213,522 (GRCm39)	Q131L	probably benign	Het
Themis3	A	T	17: 66,866,540 (GRCm39)		probably null	Het
Ttll13	T	A	7: 79,897,084 (GRCm39)	D14E	probably benign	Het
Tubb2a	A	C	13: 34,260,620 (GRCm39)	D26E	probably benign	Het
Ubr1	T	C	2: 120,734,584 (GRCm39)		probably null	Het
Vps13d	A	T	4: 144,844,195 (GRCm39)	V2537E	possibly damaging	Het
Zscan10	T	A	17: 23,829,056 (GRCm39)	F456I	probably damaging	Het
Zyg11b	A	G	4: 108,123,604 (GRCm39)	I121T	probably 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
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'- AGAGAGTATCCCTGTCCAAGCCTG -3'
(R):5'- TCACCACCCGGCAGATTCTCAATG -3'

Sequencing Primer
(F):5'- TGTCCAAGCCTGGCAGC -3'
(R):5'- AAATGGTTAGTCCAGGCCC -3'

Posted On

2013-05-23