Mutagenetix > Incidental Mutation

Incidental Mutation 'R8176:Skap2'

634337

Institutional Source

Beutler Lab

Gene Symbol

Skap2

Ensembl Gene

ENSMUSG00000059182

Gene Name

src family associated phosphoprotein 2

Synonyms

2610021A10Rik, Saps, RA70, SKAP-HOM, mSKAP55R

MMRRC Submission

067601-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51836145-51989529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51884878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 261 (E261G)

Ref Sequence

ENSEMBL: ENSMUSP00000145462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078214] [ENSMUST00000203948] [ENSMUST00000204778]

AlphaFold

Q3UND0

Predicted Effect

probably damaging
Transcript: ENSMUST00000078214
AA Change: E254G

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

SMART Domains

Protein: ENSMUSP00000077342
Gene: ENSMUSG00000059182
AA Change: E254G

Domain	Start	End	E-Value	Type
PH	117	221	6.11e-18	SMART
low complexity region	254	269	N/A	INTRINSIC
SH3	299	356	1.71e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203948

SMART Domains

Protein: ENSMUSP00000145275
Gene: ENSMUSG00000059182

Domain	Start	End	E-Value	Type
Blast:PH	1	49	1e-28	BLAST
PDB:1U5F\|A	1	74	1e-30	PDB
SH3	83	126	3e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000204778
AA Change: E261G

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

SMART Domains

Protein: ENSMUSP00000145462
Gene: ENSMUSG00000059182
AA Change: E261G

Domain	Start	End	E-Value	Type
PH	117	221	6.11e-18	SMART
low complexity region	254	269	N/A	INTRINSIC
SH3	299	356	1.71e-15	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a null allele are embryonic lethal. Homozygotes for a gene-trapped allele show impaired B-cell responses and B-cell adhesion, decreased susceptibility to EAE, abnormal dendritic cell physiology, fast extinction of fear memory, and impaired social memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	T	A	12: 31,235,135 (GRCm39)	F172I	noncoding transcript	Het
Aatk	A	G	11: 119,907,241 (GRCm39)	V154A	probably damaging	Het
Abca6	A	C	11: 110,135,020 (GRCm39)	V255G	probably benign	Het
Adam8	T	C	7: 139,568,786 (GRCm39)	K211E	probably benign	Het
Alg12	A	G	15: 88,690,084 (GRCm39)	V470A	possibly damaging	Het
Anks1b	C	A	10: 89,905,353 (GRCm39)	H231Q	probably damaging	Het
Bcl2	T	C	1: 106,640,528 (GRCm39)	Y28C	probably damaging	Het
Bms1	G	T	6: 118,395,411 (GRCm39)	F45L	probably damaging	Het
Btd	T	A	14: 31,384,073 (GRCm39)	F20I	probably benign	Het
C1rl	T	C	6: 124,470,844 (GRCm39)	S51P	probably benign	Het
Capn7	C	A	14: 31,069,729 (GRCm39)	F184L	probably benign	Het
Cd300lg	A	T	11: 101,932,390 (GRCm39)		probably benign	Het
Cdc34	T	C	10: 79,518,362 (GRCm39)	Y39H	probably damaging	Het
Cenpe	A	G	3: 134,935,851 (GRCm39)	K429E	probably damaging	Het
Cfap43	T	C	19: 47,784,114 (GRCm39)	N473S	probably benign	Het
Cntln	C	T	4: 84,806,926 (GRCm39)	T136I	probably damaging	Het
Cyfip1	A	T	7: 55,574,175 (GRCm39)	L1032F	probably benign	Het
Dach1	C	T	14: 98,153,916 (GRCm39)	V392I	probably benign	Het
Dnah14	C	T	1: 181,484,598 (GRCm39)	S1590L	probably damaging	Het
Dsp	T	C	13: 38,376,786 (GRCm39)	Y1524H	possibly damaging	Het
Dusp13b	T	C	14: 21,797,549 (GRCm39)	I103V	possibly damaging	Het
Eeig1	A	G	2: 32,453,624 (GRCm39)	T158A	probably benign	Het
Efhb	T	C	17: 53,707,874 (GRCm39)	Y763C	probably damaging	Het
Fam117a	G	T	11: 95,227,965 (GRCm39)	R25L	unknown	Het
Fcgbp	T	C	7: 27,791,174 (GRCm39)	S812P	possibly damaging	Het
Fgd5	T	A	6: 91,964,965 (GRCm39)	N399K	probably benign	Het
Foxi3	T	A	6: 70,934,017 (GRCm39)	I168N	probably damaging	Het
Frem2	A	T	3: 53,562,761 (GRCm39)	I582K	possibly damaging	Het
Gm21915	T	A	9: 40,582,266 (GRCm39)	S120T	probably benign	Het
Gtf3c5	A	G	2: 28,460,429 (GRCm39)		probably null	Het
Hecw1	A	T	13: 14,422,286 (GRCm39)		probably null	Het
Hsf2	T	A	10: 57,381,290 (GRCm39)	Y293*	probably null	Het
Ints10	T	A	8: 69,255,603 (GRCm39)	Y198N	probably damaging	Het
Iqgap3	A	G	3: 88,001,957 (GRCm39)	E399G	probably damaging	Het
Itsn1	T	A	16: 91,645,597 (GRCm39)		probably null	Het
Kcnh8	T	C	17: 53,285,122 (GRCm39)	S1031P	probably damaging	Het
Llgl1	A	G	11: 60,597,387 (GRCm39)	T279A	probably benign	Het
Ly6a	C	T	15: 74,868,300 (GRCm39)		probably null	Het
Marchf4	T	C	1: 72,573,998 (GRCm39)	E100G	probably damaging	Het
Mta1	A	G	12: 113,084,456 (GRCm39)	E84G	probably benign	Het
Myh7b	A	G	2: 155,467,886 (GRCm39)	Y808C	probably benign	Het
Ncoa1	A	G	12: 4,317,858 (GRCm39)	V1158A	possibly damaging	Het
Npepps	A	G	11: 97,126,977 (GRCm39)	S428P	probably damaging	Het
Onecut2	A	T	18: 64,473,931 (GRCm39)	T161S	possibly damaging	Het
Or10j27	C	T	1: 172,958,383 (GRCm39)	V134I	probably benign	Het
Or52e19b	G	A	7: 103,033,071 (GRCm39)	T46I	probably benign	Het
Or6c5	T	G	10: 129,074,747 (GRCm39)	M243R	probably benign	Het
Pdp2	A	G	8: 105,321,687 (GRCm39)	D512G	probably damaging	Het
Pex11b	G	T	3: 96,551,027 (GRCm39)	V171L	probably benign	Het
Potefam2	T	C	7: 62,432,783 (GRCm39)		probably null	Het
Ppil3	A	T	1: 58,480,078 (GRCm39)	C32*	probably null	Het
Prune2	T	C	19: 17,095,656 (GRCm39)	Y387H	probably damaging	Het
Rbp3	C	A	14: 33,677,605 (GRCm39)	H518N	possibly damaging	Het
Rhot2	T	C	17: 26,063,068 (GRCm39)	Y58C	probably damaging	Het
Sec16b	C	A	1: 157,362,981 (GRCm39)	H271N	probably damaging	Het
Sgo2a	A	G	1: 58,056,252 (GRCm39)	D812G	possibly damaging	Het
Spata31d1b	A	G	13: 59,865,117 (GRCm39)	N755S	probably benign	Het
Stat5a	T	A	11: 100,767,689 (GRCm39)	M419K	probably damaging	Het
Tecta	C	T	9: 42,270,465 (GRCm39)	C1281Y	probably damaging	Het
Tm9sf2	T	G	14: 122,374,913 (GRCm39)	S196R	probably benign	Het
Trpm8	A	T	1: 88,292,837 (GRCm39)	H946L	probably benign	Het

Other mutations in Skap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01462:Skap2	APN	6	51,898,280 (GRCm39)	missense	probably damaging	1.00
IGL01526:Skap2	APN	6	51,884,894 (GRCm39)	missense	probably benign	0.20
IGL01543:Skap2	APN	6	51,989,375 (GRCm39)	missense	possibly damaging	0.88
IGL01879:Skap2	APN	6	51,973,014 (GRCm39)	missense	possibly damaging	0.90
IGL01893:Skap2	APN	6	51,851,556 (GRCm39)	missense	probably damaging	1.00
IGL02154:Skap2	APN	6	51,989,308 (GRCm39)	splice site	probably benign
IGL02406:Skap2	APN	6	51,851,453 (GRCm39)	critical splice donor site	probably null
IGL02409:Skap2	APN	6	51,884,938 (GRCm39)	missense	possibly damaging	0.51
IGL02937:Skap2	APN	6	51,886,351 (GRCm39)	missense	probably benign	0.01
R0648:Skap2	UTSW	6	51,856,765 (GRCm39)	missense	probably benign	0.05
R1465:Skap2	UTSW	6	51,886,348 (GRCm39)	missense	probably benign	0.00
R1465:Skap2	UTSW	6	51,886,348 (GRCm39)	missense	probably benign	0.00
R2370:Skap2	UTSW	6	51,898,310 (GRCm39)	missense	probably damaging	1.00
R3837:Skap2	UTSW	6	51,886,279 (GRCm39)	critical splice donor site	probably null
R4847:Skap2	UTSW	6	51,980,649 (GRCm39)	missense	probably benign	0.01
R4939:Skap2	UTSW	6	51,899,303 (GRCm39)	missense	possibly damaging	0.49
R5555:Skap2	UTSW	6	51,836,998 (GRCm39)	missense	probably damaging	1.00
R7703:Skap2	UTSW	6	51,884,934 (GRCm39)	missense	probably benign	0.00
R8317:Skap2	UTSW	6	51,884,865 (GRCm39)	critical splice donor site	probably null
R9072:Skap2	UTSW	6	51,856,750 (GRCm39)	critical splice donor site	probably null
R9073:Skap2	UTSW	6	51,856,750 (GRCm39)	critical splice donor site	probably null
R9143:Skap2	UTSW	6	51,885,409 (GRCm39)	missense	probably benign	0.02
Z1176:Skap2	UTSW	6	51,898,260 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGCCACACTTGAAATGTG -3'
(R):5'- GCACGTAGATGACAGTTTTCAG -3'

Sequencing Primer
(F):5'- GTGTCAAGCAGAAGTCCTTTC -3'
(R):5'- CACGTAGATGACAGTTTTCAGAGTTG -3'

Posted On

2020-07-13