Mutagenetix > Incidental Mutation

Incidental Mutation 'R4806:Prex2'

370656

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

042425-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R4806 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11063689-11373905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11138244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 108 (F108L)

Ref Sequence

ENSEMBL: ENSMUSP00000027056 (fasta)

Gene Model

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

AlphaFold

Q3LAC4

Predicted Effect

probably damaging
Transcript: ENSMUST00000027056
AA Change: F108L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027056
Gene: ENSMUSG00000048960
AA Change: F108L

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

Meta Mutation Damage Score

0.7416

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,265,070 (GRCm39)		probably null	Het
2410137M14Rik	T	A	17: 37,289,746 (GRCm39)	H28L	probably benign	Het
4930562C15Rik	T	C	16: 4,667,536 (GRCm39)	F309S	unknown	Het
Acd	A	G	8: 106,424,922 (GRCm39)	V406A	possibly damaging	Het
Acin1	A	T	14: 54,916,685 (GRCm39)		probably benign	Het
Agbl4	T	C	4: 110,812,834 (GRCm39)	V118A	probably damaging	Het
Arhgap5	A	G	12: 52,565,486 (GRCm39)	D819G	probably damaging	Het
BC049715	A	T	6: 136,816,927 (GRCm39)	I56F	possibly damaging	Het
C1rb	A	T	6: 124,551,908 (GRCm39)	Q270L	probably benign	Het
Cadps2	C	T	6: 23,688,859 (GRCm39)	R121Q	probably damaging	Het
Cd84	A	G	1: 171,679,688 (GRCm39)	Y122C	probably benign	Het
Cklf	C	A	8: 104,984,067 (GRCm39)	P77T	probably damaging	Het
Clrn2	T	C	5: 45,611,346 (GRCm39)	L65P	probably damaging	Het
Csde1	TCCTCGACCT	TCCT	3: 102,963,685 (GRCm39)		probably benign	Het
Csf2rb2	T	C	15: 78,169,490 (GRCm39)	D446G	probably benign	Het
Csmd3	T	C	15: 48,177,464 (GRCm39)	E358G	probably benign	Het
Dmkn	C	T	7: 30,470,667 (GRCm39)	T385I	possibly damaging	Het
Dnah10	A	G	5: 124,896,408 (GRCm39)	T3591A	probably damaging	Het
Dpp9	A	G	17: 56,497,030 (GRCm39)	L734P	probably damaging	Het
Edem2	A	G	2: 155,570,913 (GRCm39)	V39A	possibly damaging	Het
Glmp	A	C	3: 88,233,320 (GRCm39)		probably benign	Het
Gm20775	T	C	Y: 10,641,885 (GRCm39)		noncoding transcript	Het
Gpr179	T	G	11: 97,240,610 (GRCm39)	D271A	possibly damaging	Het
Gtf2ird1	A	G	5: 134,412,750 (GRCm39)	V587A	probably damaging	Het
Igfn1	T	A	1: 135,895,095 (GRCm39)	T1824S	probably benign	Het
Ighmbp2	A	T	19: 3,311,589 (GRCm39)	I942N	probably damaging	Het
Ints2	A	G	11: 86,147,035 (GRCm39)	L37P	probably benign	Het
Irgq	T	A	7: 24,233,470 (GRCm39)	L437Q	probably damaging	Het
Kcnq4	A	T	4: 120,570,291 (GRCm39)	W351R	probably damaging	Het
Kif3b	G	A	2: 153,162,288 (GRCm39)	A500T	probably damaging	Het
Lpp	A	G	16: 24,480,430 (GRCm39)	D66G	probably damaging	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mc4r	T	A	18: 66,992,559 (GRCm39)	I185F	probably damaging	Het
Mdga1	T	C	17: 30,061,128 (GRCm39)	D621G	probably benign	Het
Med13	A	G	11: 86,189,403 (GRCm39)	S1169P	probably benign	Het
Myh11	A	T	16: 14,018,947 (GRCm39)		probably null	Het
Naip1	G	A	13: 100,562,129 (GRCm39)	A1012V	probably benign	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Plb1	G	A	5: 32,447,196 (GRCm39)	G321D	probably damaging	Het
Plxnd1	A	G	6: 115,937,816 (GRCm39)	V1510A	probably damaging	Het
Polr1e	T	A	4: 45,024,482 (GRCm39)	M131K	probably benign	Het
Prdm10	T	A	9: 31,241,237 (GRCm39)	*342R	probably null	Het
Psmg2	T	A	18: 67,781,992 (GRCm39)	I186N	probably benign	Het
Ros1	T	A	10: 51,972,271 (GRCm39)	E1614D	probably damaging	Het
Sin3a	G	A	9: 56,994,026 (GRCm39)	V44M	probably damaging	Het
Slco1a1	G	A	6: 141,854,735 (GRCm39)	L639F	possibly damaging	Het
Smr2	T	G	5: 88,246,289 (GRCm39)	L101*	probably null	Het
Spata31d1b	C	T	13: 59,863,535 (GRCm39)	P228S	probably benign	Het
Stat5b	G	T	11: 100,681,623 (GRCm39)	H544N	probably benign	Het
Syk	A	T	13: 52,786,963 (GRCm39)	Y319F	probably benign	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Tsc22d1	A	G	14: 76,654,428 (GRCm39)		probably null	Het
Vmn2r52	T	A	7: 9,893,169 (GRCm39)	T657S	probably damaging	Het
Vmn2r63	A	T	7: 42,576,314 (GRCm39)	S500T	probably benign	Het
Vps45	A	C	3: 95,953,725 (GRCm39)	V209G	probably benign	Het
Xrcc1	C	A	7: 24,269,905 (GRCm39)	A442E	probably benign	Het
Ythdc1	T	A	5: 86,970,704 (GRCm39)	V430E	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp422	A	T	6: 116,603,623 (GRCm39)	N125K	probably damaging	Het
Zfp53	T	A	17: 21,725,263 (GRCm39)	D58E	possibly damaging	Het
Zfp707	C	T	15: 75,845,000 (GRCm39)	Q66*	probably null	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
R4491: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
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'- ATGCTTCTTTCCTCTGTGTAAAGTG -3'
(R):5'- GCGTGTCACATGCACTCTTAC -3'

Sequencing Primer
(F):5'- TTTCCTCTGTGTAAAGTGACTTTC -3'
(R):5'- TGCACTCTTACAAGTAGGGC -3'

Posted On

2016-02-04