Mutagenetix > Incidental Mutation

Incidental Mutation 'R2919:Sgk2'

255410

Institutional Source

Beutler Lab

Gene Symbol

Sgk2

Ensembl Gene

ENSMUSG00000017868

Gene Name

serum/glucocorticoid regulated kinase 2

Synonyms

MMRRC Submission

040504-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

162829250-162856047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 162841125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 178 (F178L)

Ref Sequence

ENSEMBL: ENSMUSP00000018012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018012] [ENSMUST00000117123]

AlphaFold

Q9QZS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000018012
AA Change: F178L

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

SMART Domains

Protein: ENSMUSP00000018012
Gene: ENSMUSG00000017868
AA Change: F178L

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
S_TKc	35	292	4.09e-102	SMART
S_TK_X	293	359	8.21e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117123

SMART Domains

Protein: ENSMUSP00000112468
Gene: ENSMUSG00000017868

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
S_TKc	35	263	2.24e-76	SMART
S_TK_X	264	330	8.21e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139053

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase. Although this gene product is similar to serum- and glucocorticoid-induced protein kinase (SGK), this gene is not induced by serum or glucocorticoids. This gene is induced in response to signals that activate phosphatidylinositol 3-kinase, which is also true for SGK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,122,001 (GRCm39)	R27H	probably benign	Het
2310002L09Rik	A	T	4: 73,868,845 (GRCm39)	L31Q	probably damaging	Het
Agbl1	G	A	7: 76,064,406 (GRCm39)	D53N	probably damaging	Het
Aloxe3	C	T	11: 69,033,749 (GRCm39)	T621I	probably damaging	Het
Als2cl	A	T	9: 110,726,567 (GRCm39)		probably null	Het
Atg9b	T	A	5: 24,596,542 (GRCm39)	T125S	possibly damaging	Het
Casp8ap2	A	G	4: 32,645,343 (GRCm39)	D1472G	probably damaging	Het
Cd1d2	C	G	3: 86,894,987 (GRCm39)	P158A	probably damaging	Het
Cdc45	A	G	16: 18,627,543 (GRCm39)	I94T	probably benign	Het
Chd6	T	G	2: 160,809,800 (GRCm39)	D1487A	possibly damaging	Het
Edem2	T	C	2: 155,550,947 (GRCm39)	Y340C	probably damaging	Het
Fbxl12	C	T	9: 20,553,509 (GRCm39)	R26H	probably damaging	Het
Fgfr3	A	G	5: 33,891,284 (GRCm39)	N516S	probably damaging	Het
Gm5884	A	G	6: 128,622,021 (GRCm39)		noncoding transcript	Het
Hdac1-ps	A	G	17: 78,800,275 (GRCm39)	D422G	probably damaging	Het
Inpp4b	C	A	8: 82,711,958 (GRCm39)	A425E	possibly damaging	Het
Kif1a	A	G	1: 92,974,464 (GRCm39)	Y964H	probably damaging	Het
Lrp1b	A	C	2: 41,660,911 (GRCm39)	C66G	probably damaging	Het
Lrp4	A	G	2: 91,321,075 (GRCm39)	I1034V	probably benign	Het
Meak7	G	A	8: 120,495,056 (GRCm39)	A234V	probably benign	Het
Mmrn2	T	C	14: 34,124,879 (GRCm39)	V820A	possibly damaging	Het
Mphosph9	G	A	5: 124,399,069 (GRCm39)	T982I	probably benign	Het
Mroh9	A	C	1: 162,884,341 (GRCm39)	M399R	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
N4bp2	G	A	5: 65,964,441 (GRCm39)	G830D	probably benign	Het
Nagpa	G	A	16: 5,021,651 (GRCm39)		probably benign	Het
Or52b1	C	T	7: 104,979,067 (GRCm39)	V111M	probably damaging	Het
Or5g23	G	A	2: 85,438,754 (GRCm39)	P167S	probably benign	Het
Oxgr1	T	A	14: 120,260,221 (GRCm39)		probably benign	Het
Parp3	T	A	9: 106,350,924 (GRCm39)	R323W	possibly damaging	Het
Pfkfb3	C	T	2: 11,489,138 (GRCm39)	V286I	probably benign	Het
Pfkp	C	T	13: 6,643,279 (GRCm39)	G513D	probably damaging	Het
Pla2g4d	T	C	2: 120,112,108 (GRCm39)		probably benign	Het
Rtl1	T	C	12: 109,557,582 (GRCm39)	E1419G	unknown	Het
Sdf2	G	C	11: 78,145,680 (GRCm39)	V126L	probably damaging	Het
Sim1	T	C	10: 50,785,911 (GRCm39)	Y255H	probably benign	Het
Slc13a5	T	C	11: 72,138,617 (GRCm39)	E442G	possibly damaging	Het
Slc38a3	A	T	9: 107,534,886 (GRCm39)	I163N	probably damaging	Het
Slc39a4	A	G	15: 76,500,870 (GRCm39)	L31P	probably damaging	Het
Slc5a11	GGTGC	G	7: 122,838,595 (GRCm39)		probably null	Het
Slfnl1	G	T	4: 120,390,275 (GRCm39)		probably benign	Het
Stradb	G	A	1: 59,031,828 (GRCm39)	V247M	probably benign	Het
Styk1	T	A	6: 131,289,967 (GRCm39)		probably benign	Het
Sult1d1	A	G	5: 87,707,614 (GRCm39)		probably benign	Het
Syk	C	T	13: 52,765,157 (GRCm39)	P95S	probably benign	Het
Taar2	T	A	10: 23,817,454 (GRCm39)	N331K	probably benign	Het
Thsd7b	A	G	1: 130,117,587 (GRCm39)		probably benign	Het
Tmbim7	G	A	5: 3,723,188 (GRCm39)		probably null	Het
Tmem107	T	C	11: 68,962,247 (GRCm39)	L68P	probably damaging	Het
Tmem184c	A	T	8: 78,331,276 (GRCm39)	C158S	probably damaging	Het
Tmpo	A	G	10: 90,988,548 (GRCm39)	I310T	probably benign	Het
Ugt2b5	A	G	5: 87,273,266 (GRCm39)	F467L	possibly damaging	Het
Xirp1	T	C	9: 119,847,767 (GRCm39)	E372G	possibly damaging	Het
Zbtb5	T	C	4: 44,994,790 (GRCm39)	E198G	probably damaging	Het
Zfp804a	A	G	2: 82,066,160 (GRCm39)	N44D	probably damaging	Het

Other mutations in Sgk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03048:Sgk2	UTSW	2	162,837,680 (GRCm39)	missense	probably damaging	1.00
R0319:Sgk2	UTSW	2	162,837,592 (GRCm39)	splice site	probably benign
R0563:Sgk2	UTSW	2	162,846,164 (GRCm39)	missense	probably damaging	1.00
R0947:Sgk2	UTSW	2	162,848,758 (GRCm39)	missense	probably benign	0.35
R1624:Sgk2	UTSW	2	162,839,779 (GRCm39)	missense	probably benign	0.20
R1975:Sgk2	UTSW	2	162,846,080 (GRCm39)	missense	probably benign
R1977:Sgk2	UTSW	2	162,846,080 (GRCm39)	missense	probably benign
R2085:Sgk2	UTSW	2	162,854,890 (GRCm39)	missense	probably damaging	1.00
R2136:Sgk2	UTSW	2	162,841,099 (GRCm39)	splice site	probably null
R2873:Sgk2	UTSW	2	162,836,449 (GRCm39)	splice site	probably benign
R2874:Sgk2	UTSW	2	162,836,449 (GRCm39)	splice site	probably benign
R2919:Sgk2	UTSW	2	162,841,115 (GRCm39)	missense	probably damaging	1.00
R4602:Sgk2	UTSW	2	162,836,674 (GRCm39)	critical splice donor site	probably null
R4660:Sgk2	UTSW	2	162,839,763 (GRCm39)	missense	possibly damaging	0.95
R5517:Sgk2	UTSW	2	162,839,755 (GRCm39)	missense	probably damaging	1.00
R5531:Sgk2	UTSW	2	162,836,624 (GRCm39)	missense	probably benign	0.00
R6143:Sgk2	UTSW	2	162,841,174 (GRCm39)	missense	probably damaging	1.00
R7355:Sgk2	UTSW	2	162,854,987 (GRCm39)	missense	probably benign	0.02
R7825:Sgk2	UTSW	2	162,848,801 (GRCm39)	missense	possibly damaging	0.56
R7837:Sgk2	UTSW	2	162,845,216 (GRCm39)	missense	probably damaging	1.00
R8796:Sgk2	UTSW	2	162,848,723 (GRCm39)	missense	probably damaging	0.99
R8843:Sgk2	UTSW	2	162,854,890 (GRCm39)	missense	probably damaging	1.00
R9279:Sgk2	UTSW	2	162,854,975 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CCGGCCTGAGTCATGATAAAC -3'
(R):5'- TCCCTGACACTCACAAGAGG -3'

Sequencing Primer
(F):5'- CGGCCTGAGTCATGATAAACTAGGG -3'
(R):5'- AGCACAGCTGACTCAGGG -3'

Posted On

2014-12-29