Mutagenetix > Incidental Mutation

Incidental Mutation 'R4491:Prex2'

330701

Institutional Source

Beutler Lab

Gene Symbol

Prex2

Ensembl Gene

ENSMUSG00000048960

Gene Name

phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2

Synonyms

C030045D06Rik, 6230420N16Rik, Depdc2

MMRRC Submission

041747-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R4491 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11063689-11373905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11232487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 851 (S851R)

Ref Sequence

ENSEMBL: ENSMUSP00000027056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027056]

AlphaFold

Q3LAC4

Predicted Effect

probably benign
Transcript: ENSMUST00000027056
AA Change: S851R

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000027056
Gene: ENSMUSG00000048960
AA Change: S851R

Domain	Start	End	E-Value	Type
RhoGEF	19	205	8.61e-45	SMART
PH	238	355	2.43e-12	SMART
DEP	383	456	4.46e-26	SMART
DEP	484	557	6.57e-15	SMART
PDZ	593	666	9.62e-2	SMART
PDZ	677	744	6.37e-8	SMART
low complexity region	1112	1127	N/A	INTRINSIC
low complexity region	1498	1507	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187694

Meta Mutation Damage Score

0.0740

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphatidylinositol 3,4,5-trisphosphate (PIP3)-dependent Rac exchanger (PREX) family, which are Dbl-type guanine-nucleotide exchange factors for Rac family small G proteins. Structural domains of this protein include the catalytic diffuse B-cell lymphoma homology and pleckstrin homology (DHPH) domain, two disheveled, EGL-10, and pleckstrin homology (DEP) domains, two PDZ domains, and a C-terminal inositol polyphosphate-4 phosphatase (IP4P) domain that is found in one of the isoforms. This protein facilitates the exchange of GDP for GTP on Rac1, allowing the GTP-bound Rac1 to activate downstream effectors. Studies also show that the pleckstrin homology domain of this protein interacts with the phosphatase and tensin homolog (PTEN) gene product to inhibit PTEN phosphatase activity, thus activating the phosphoinositide-3 kinase (PI3K) signaling pathway. Conversely, the PTEN gene product has also been shown to inhibit the GEF activity of this protein. This gene plays a role in insulin-signaling pathways, and either mutations or overexpression of this gene have been observed in some cancers. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for gene trapped alleles may exhibit abnormal Purkinje cell dendrite morphology, a mild motor coordination defect that progressively worsens with age, hypoactivity, impaired glucose tolerance and/or insulin resistance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 64,055,812 (GRCm39)	P183T	probably damaging	Het
Bcan	G	A	3: 87,897,540 (GRCm39)	R682*	probably null	Het
Bzw1	T	A	1: 58,443,418 (GRCm39)	L410Q	probably damaging	Het
Cdh5	A	T	8: 104,839,672 (GRCm39)	I48F	probably damaging	Het
Cdhr5	T	C	7: 140,853,970 (GRCm39)	N173D	possibly damaging	Het
Cfap74	T	C	4: 155,513,628 (GRCm39)	M480T	probably benign	Het
Col6a5	C	T	9: 105,817,211 (GRCm39)	A367T	unknown	Het
Cpsf1	A	C	15: 76,481,922 (GRCm39)	Y1064D	possibly damaging	Het
Defb6	A	T	8: 19,278,090 (GRCm39)	H54L	probably benign	Het
Dmtf1	A	G	5: 9,190,379 (GRCm39)		probably benign	Het
Dnah12	T	C	14: 26,455,758 (GRCm39)	L827S	possibly damaging	Het
Dnai4	T	C	4: 102,923,596 (GRCm39)	E411G	probably benign	Het
Dsc3	T	C	18: 20,134,922 (GRCm39)	T21A	probably benign	Het
Epb41l1	G	T	2: 156,364,088 (GRCm39)	D866Y	probably benign	Het
Epha1	T	C	6: 42,337,600 (GRCm39)	M860V	probably damaging	Het
Far2	T	C	6: 148,074,907 (GRCm39)	L380P	possibly damaging	Het
Fgd5	A	G	6: 91,966,280 (GRCm39)	I680V	possibly damaging	Het
Fnbp4	T	C	2: 90,583,312 (GRCm39)		probably null	Het
Focad	G	A	4: 88,278,142 (GRCm39)		probably null	Het
Gm14180	T	A	11: 99,621,139 (GRCm39)		probably benign	Het
Hbb-bh2	T	C	7: 103,489,622 (GRCm39)	T5A	probably benign	Het
Ighv7-2	A	G	12: 113,876,100 (GRCm39)	F2L	probably benign	Het
Igsf5	A	G	16: 96,165,281 (GRCm39)	T19A	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klb	A	G	5: 65,533,137 (GRCm39)	N482S	probably benign	Het
Lipo2	A	C	19: 33,699,100 (GRCm39)	L310R	probably damaging	Het
Mc3r	A	G	2: 172,091,123 (GRCm39)	H115R	possibly damaging	Het
Meioc	A	G	11: 102,565,746 (GRCm39)	D398G	possibly damaging	Het
Or10ag60	G	A	2: 87,437,736 (GRCm39)	M1I	probably null	Het
Or56a5	A	T	7: 104,792,983 (GRCm39)	C172*	probably null	Het
Or7a37	T	C	10: 78,806,151 (GRCm39)	S223P	probably damaging	Het
Pds5a	T	C	5: 65,792,780 (GRCm39)	T718A	probably benign	Het
Pdzd2	C	T	15: 12,385,723 (GRCm39)	D1016N	possibly damaging	Het
Pla2g2c	T	C	4: 138,461,719 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,648,160 (GRCm39)	I404V	probably damaging	Het
Pou2af3	A	G	9: 51,181,955 (GRCm39)	F206L	probably benign	Het
Ppp2r5c	A	T	12: 110,546,956 (GRCm39)	D522V	possibly damaging	Het
Rapgef1	C	T	2: 29,609,668 (GRCm39)	P702S	possibly damaging	Het
Rasal3	T	A	17: 32,610,359 (GRCm39)	D976V	probably damaging	Het
Rasef	A	C	4: 73,652,740 (GRCm39)	L587R	probably damaging	Het
Rptn	A	T	3: 93,303,818 (GRCm39)	R384*	probably null	Het
Sema6a	G	A	18: 47,439,524 (GRCm39)		probably benign	Het
Sycp2	G	T	2: 178,016,778 (GRCm39)	T608K	probably damaging	Het
Syde1	C	T	10: 78,426,062 (GRCm39)	R35H	probably benign	Het
Taf1	G	T	X: 100,586,665 (GRCm39)	M313I	possibly damaging	Het
Taf15	A	T	11: 83,375,520 (GRCm39)	T31S	probably benign	Het
Tktl2	T	C	8: 66,964,664 (GRCm39)	V74A	probably damaging	Het
Tle4	A	G	19: 14,432,229 (GRCm39)	V489A	probably damaging	Het
Tmem30a	T	C	9: 79,684,567 (GRCm39)	H95R	probably damaging	Het
Trmt9b	G	A	8: 36,972,760 (GRCm39)	C70Y	probably damaging	Het
Vmn1r75	C	A	7: 11,614,909 (GRCm39)	Q214K	probably damaging	Het
Vps13c	C	T	9: 67,817,475 (GRCm39)	T1049M	probably benign	Het
Zfp37	T	C	4: 62,110,365 (GRCm39)	Q274R	probably benign	Het
Zfp648	T	G	1: 154,080,873 (GRCm39)	L344R	probably damaging	Het

Other mutations in Prex2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Prex2	APN	1	11,256,876 (GRCm39)	missense	possibly damaging	0.51
IGL00948:Prex2	APN	1	11,240,838 (GRCm39)	missense	probably damaging	0.98
IGL01087:Prex2	APN	1	11,138,328 (GRCm39)	missense	probably benign	0.00
IGL01490:Prex2	APN	1	11,254,769 (GRCm39)	splice site	probably null
IGL01533:Prex2	APN	1	11,256,965 (GRCm39)	nonsense	probably null
IGL01661:Prex2	APN	1	11,278,838 (GRCm39)	missense	probably benign	0.01
IGL01668:Prex2	APN	1	11,223,869 (GRCm39)	missense	probably benign	0.00
IGL01674:Prex2	APN	1	11,240,965 (GRCm39)	missense	probably damaging	1.00
IGL01716:Prex2	APN	1	11,336,278 (GRCm39)	missense	probably benign	0.04
IGL01867:Prex2	APN	1	11,168,727 (GRCm39)	missense	probably benign	0.11
IGL01954:Prex2	APN	1	11,210,235 (GRCm39)	missense	possibly damaging	0.75
IGL01990:Prex2	APN	1	11,193,457 (GRCm39)	splice site	probably benign
IGL02022:Prex2	APN	1	11,367,963 (GRCm39)	missense	probably benign	0.04
IGL02130:Prex2	APN	1	11,230,386 (GRCm39)	missense	probably damaging	1.00
IGL02130:Prex2	APN	1	11,183,023 (GRCm39)	missense	probably damaging	1.00
IGL02221:Prex2	APN	1	11,131,569 (GRCm39)	missense	probably benign	0.00
IGL02369:Prex2	APN	1	11,171,393 (GRCm39)	critical splice donor site	probably null
IGL02440:Prex2	APN	1	11,223,881 (GRCm39)	missense	possibly damaging	0.94
IGL02477:Prex2	APN	1	11,274,378 (GRCm39)	missense	probably benign
IGL02492:Prex2	APN	1	11,194,069 (GRCm39)	missense	possibly damaging	0.93
IGL03051:Prex2	APN	1	11,212,889 (GRCm39)	missense	probably damaging	1.00
IGL03154:Prex2	APN	1	11,223,857 (GRCm39)	missense	possibly damaging	0.63
IGL03158:Prex2	APN	1	11,336,291 (GRCm39)	missense	possibly damaging	0.89
IGL03308:Prex2	APN	1	11,255,399 (GRCm39)	missense	possibly damaging	0.89
IGL03338:Prex2	APN	1	11,210,489 (GRCm39)	missense	probably benign	0.01
R0042:Prex2	UTSW	1	11,150,305 (GRCm39)	missense	probably damaging	1.00
R0052:Prex2	UTSW	1	11,230,380 (GRCm39)	missense	probably damaging	1.00
R0052:Prex2	UTSW	1	11,230,380 (GRCm39)	missense	probably damaging	1.00
R0138:Prex2	UTSW	1	11,355,267 (GRCm39)	splice site	probably benign
R0206:Prex2	UTSW	1	11,355,368 (GRCm39)	missense	probably damaging	1.00
R0206:Prex2	UTSW	1	11,355,368 (GRCm39)	missense	probably damaging	1.00
R0208:Prex2	UTSW	1	11,355,368 (GRCm39)	missense	probably damaging	1.00
R0325:Prex2	UTSW	1	11,270,281 (GRCm39)	splice site	probably null
R0326:Prex2	UTSW	1	11,355,289 (GRCm39)	missense	probably damaging	1.00
R0390:Prex2	UTSW	1	11,159,930 (GRCm39)	splice site	probably null
R0492:Prex2	UTSW	1	11,256,857 (GRCm39)	splice site	probably benign
R0512:Prex2	UTSW	1	11,270,157 (GRCm39)	missense	probably benign
R0515:Prex2	UTSW	1	11,270,098 (GRCm39)	missense	probably damaging	0.99
R0894:Prex2	UTSW	1	11,252,122 (GRCm39)	missense	probably benign
R1259:Prex2	UTSW	1	11,359,494 (GRCm39)	missense	probably damaging	1.00
R1332:Prex2	UTSW	1	11,274,315 (GRCm39)	missense	probably damaging	1.00
R1356:Prex2	UTSW	1	11,150,316 (GRCm39)	nonsense	probably null
R1451:Prex2	UTSW	1	11,226,483 (GRCm39)	missense	probably benign	0.01
R1488:Prex2	UTSW	1	11,263,752 (GRCm39)	missense	probably benign	0.05
R1512:Prex2	UTSW	1	11,131,554 (GRCm39)	missense	possibly damaging	0.64
R1641:Prex2	UTSW	1	11,301,996 (GRCm39)	missense	probably damaging	0.99
R1667:Prex2	UTSW	1	11,256,981 (GRCm39)	missense	probably benign
R1678:Prex2	UTSW	1	11,355,313 (GRCm39)	missense	possibly damaging	0.51
R1736:Prex2	UTSW	1	11,160,108 (GRCm39)	splice site	probably benign
R1781:Prex2	UTSW	1	11,270,179 (GRCm39)	missense	probably benign	0.17
R1804:Prex2	UTSW	1	11,202,566 (GRCm39)	missense	probably damaging	1.00
R1836:Prex2	UTSW	1	11,207,004 (GRCm39)	missense	probably damaging	1.00
R1899:Prex2	UTSW	1	11,232,590 (GRCm39)	nonsense	probably null
R1900:Prex2	UTSW	1	11,232,590 (GRCm39)	nonsense	probably null
R2020:Prex2	UTSW	1	11,232,536 (GRCm39)	missense	probably damaging	0.98
R2114:Prex2	UTSW	1	11,256,937 (GRCm39)	missense	probably damaging	1.00
R2117:Prex2	UTSW	1	11,256,937 (GRCm39)	missense	probably damaging	1.00
R2436:Prex2	UTSW	1	11,336,376 (GRCm39)	missense	possibly damaging	0.90
R2902:Prex2	UTSW	1	11,278,838 (GRCm39)	missense	possibly damaging	0.77
R2915:Prex2	UTSW	1	11,240,077 (GRCm39)	missense	probably damaging	1.00
R2924:Prex2	UTSW	1	11,168,711 (GRCm39)	missense	probably damaging	1.00
R2981:Prex2	UTSW	1	11,252,186 (GRCm39)	missense	probably damaging	1.00
R3430:Prex2	UTSW	1	11,220,078 (GRCm39)	missense	possibly damaging	0.88
R3832:Prex2	UTSW	1	11,226,588 (GRCm39)	splice site	probably benign
R3870:Prex2	UTSW	1	11,230,416 (GRCm39)	missense	possibly damaging	0.86
R3963:Prex2	UTSW	1	11,180,581 (GRCm39)	missense	possibly damaging	0.93
R4012:Prex2	UTSW	1	11,254,740 (GRCm39)	missense	probably benign
R4030:Prex2	UTSW	1	11,278,792 (GRCm39)	missense	probably benign	0.06
R4214:Prex2	UTSW	1	11,171,383 (GRCm39)	missense	probably damaging	1.00
R4214:Prex2	UTSW	1	11,355,285 (GRCm39)	missense	probably damaging	1.00
R4242:Prex2	UTSW	1	11,226,528 (GRCm39)	missense	probably benign	0.06
R4490:Prex2	UTSW	1	11,232,487 (GRCm39)	missense	probably benign	0.05
R4492:Prex2	UTSW	1	11,232,487 (GRCm39)	missense	probably benign	0.05
R4561:Prex2	UTSW	1	11,254,769 (GRCm39)	splice site	probably null
R4624:Prex2	UTSW	1	11,359,489 (GRCm39)	nonsense	probably null
R4647:Prex2	UTSW	1	11,232,509 (GRCm39)	missense	probably damaging	1.00
R4657:Prex2	UTSW	1	11,136,049 (GRCm39)	missense	probably benign	0.00
R4706:Prex2	UTSW	1	11,270,212 (GRCm39)	missense	probably damaging	1.00
R4806:Prex2	UTSW	1	11,138,244 (GRCm39)	missense	probably damaging	1.00
R4900:Prex2	UTSW	1	11,220,129 (GRCm39)	splice site	probably benign
R4922:Prex2	UTSW	1	11,240,164 (GRCm39)	missense	probably damaging	1.00
R4961:Prex2	UTSW	1	11,168,705 (GRCm39)	missense	possibly damaging	0.75
R5284:Prex2	UTSW	1	11,336,314 (GRCm39)	nonsense	probably null
R5305:Prex2	UTSW	1	11,177,902 (GRCm39)	missense	probably damaging	1.00
R5307:Prex2	UTSW	1	11,270,256 (GRCm39)	missense	probably damaging	0.99
R5331:Prex2	UTSW	1	11,210,235 (GRCm39)	missense	possibly damaging	0.75
R5385:Prex2	UTSW	1	11,210,204 (GRCm39)	missense	probably damaging	0.99
R5574:Prex2	UTSW	1	11,210,282 (GRCm39)	missense	probably damaging	1.00
R5979:Prex2	UTSW	1	11,202,596 (GRCm39)	missense	probably damaging	1.00
R6076:Prex2	UTSW	1	11,256,174 (GRCm39)	missense	probably benign	0.09
R6160:Prex2	UTSW	1	11,064,075 (GRCm39)	missense	probably damaging	1.00
R6177:Prex2	UTSW	1	11,207,001 (GRCm39)	missense	possibly damaging	0.49
R6221:Prex2	UTSW	1	11,336,236 (GRCm39)	missense	probably benign	0.01
R6293:Prex2	UTSW	1	11,232,522 (GRCm39)	missense	probably benign
R6335:Prex2	UTSW	1	11,180,544 (GRCm39)	missense	probably benign	0.13
R6401:Prex2	UTSW	1	11,256,951 (GRCm39)	missense	probably benign	0.00
R6427:Prex2	UTSW	1	11,252,255 (GRCm39)	missense	probably damaging	1.00
R6467:Prex2	UTSW	1	11,336,259 (GRCm39)	missense	probably damaging	1.00
R6564:Prex2	UTSW	1	11,171,285 (GRCm39)	splice site	probably null
R6734:Prex2	UTSW	1	11,150,283 (GRCm39)	missense	probably damaging	1.00
R6753:Prex2	UTSW	1	11,254,680 (GRCm39)	missense	probably damaging	0.98
R6880:Prex2	UTSW	1	11,202,608 (GRCm39)	missense	probably damaging	1.00
R6973:Prex2	UTSW	1	11,182,967 (GRCm39)	missense	probably damaging	1.00
R6980:Prex2	UTSW	1	11,232,487 (GRCm39)	missense	probably benign	0.05
R6987:Prex2	UTSW	1	11,240,976 (GRCm39)	missense	probably damaging	0.99
R7085:Prex2	UTSW	1	11,168,812 (GRCm39)	missense	possibly damaging	0.73
R7101:Prex2	UTSW	1	11,223,833 (GRCm39)	missense	possibly damaging	0.86
R7106:Prex2	UTSW	1	11,207,017 (GRCm39)	missense	probably benign	0.33
R7319:Prex2	UTSW	1	11,232,532 (GRCm39)	missense	probably benign	0.10
R7342:Prex2	UTSW	1	11,232,549 (GRCm39)	missense	probably benign	0.00
R7469:Prex2	UTSW	1	11,355,293 (GRCm39)	missense	probably damaging	1.00
R7528:Prex2	UTSW	1	11,274,316 (GRCm39)	missense	probably damaging	1.00
R7592:Prex2	UTSW	1	11,193,437 (GRCm39)	missense	probably damaging	1.00
R7650:Prex2	UTSW	1	11,220,078 (GRCm39)	missense	possibly damaging	0.67
R7695:Prex2	UTSW	1	11,232,497 (GRCm39)	missense	probably benign	0.00
R7720:Prex2	UTSW	1	11,252,161 (GRCm39)	missense	possibly damaging	0.47
R7733:Prex2	UTSW	1	11,252,183 (GRCm39)	missense	probably benign	0.31
R7859:Prex2	UTSW	1	11,150,274 (GRCm39)	missense	probably damaging	1.00
R8247:Prex2	UTSW	1	11,270,194 (GRCm39)	missense	probably benign
R8300:Prex2	UTSW	1	11,301,942 (GRCm39)	missense	possibly damaging	0.49
R8345:Prex2	UTSW	1	11,270,118 (GRCm39)	missense	possibly damaging	0.65
R8352:Prex2	UTSW	1	11,355,364 (GRCm39)	missense	probably benign
R8352:Prex2	UTSW	1	11,355,363 (GRCm39)	missense	probably benign
R8410:Prex2	UTSW	1	11,223,881 (GRCm39)	missense	possibly damaging	0.94
R8452:Prex2	UTSW	1	11,355,364 (GRCm39)	missense	probably benign
R8452:Prex2	UTSW	1	11,355,363 (GRCm39)	missense	probably benign
R8885:Prex2	UTSW	1	11,240,799 (GRCm39)	splice site	probably benign
R8926:Prex2	UTSW	1	11,159,930 (GRCm39)	splice site	probably null
R8968:Prex2	UTSW	1	11,180,562 (GRCm39)	nonsense	probably null
R9049:Prex2	UTSW	1	11,256,130 (GRCm39)	missense	probably damaging	0.98
R9398:Prex2	UTSW	1	11,207,028 (GRCm39)	missense	probably benign	0.00
R9452:Prex2	UTSW	1	11,256,151 (GRCm39)	missense	probably benign	0.01
R9549:Prex2	UTSW	1	11,256,915 (GRCm39)	missense	probably damaging	1.00
RF005:Prex2	UTSW	1	11,255,390 (GRCm39)	missense	possibly damaging	0.47
Z1177:Prex2	UTSW	1	11,359,476 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGTGAAACCTGAGATTGCAAAC -3'
(R):5'- ACCCCTACTTAGCCTCAAGG -3'

Sequencing Primer
(F):5'- CAGAGAAGTCAGTTTATAGGCTCATG -3'
(R):5'- GCCTCAAGGATTTTCTTATAGCAAC -3'

Posted On

2015-07-21