Mutagenetix > Incidental Mutation

Incidental Mutation 'R5305:Prex2'

404472

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

042888-MU

Accession Numbers

Essential gene?

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

Stock #

R5305 (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 11177902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 332 (V332E)

Ref Sequence

ENSEMBL: ENSMUSP00000027056 (fasta)

Gene Model

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

AlphaFold

Q3LAC4

Predicted Effect

probably damaging
Transcript: ENSMUST00000027056
AA Change: V332E

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

SMART Domains

Protein: ENSMUSP00000027056
Gene: ENSMUSG00000048960
AA Change: V332E

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: ENSMUST00000189822

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (67/68)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 81,943,420 (GRCm39)	V11M	possibly damaging	Het
Acot8	A	G	2: 164,637,685 (GRCm39)	V179A	probably benign	Het
Actb	A	G	5: 142,889,985 (GRCm39)	I194T	probably benign	Het
Ap1g2	A	G	14: 55,336,533 (GRCm39)	V787A	probably benign	Het
Areg	G	T	5: 91,292,308 (GRCm39)	A203S	probably damaging	Het
Asb13	A	T	13: 3,693,479 (GRCm39)	D79V	probably damaging	Het
Atad2b	C	T	12: 5,015,855 (GRCm39)	T527I	probably damaging	Het
Auts2	T	G	5: 131,472,632 (GRCm39)		probably benign	Het
Ceacam3	T	A	7: 16,885,501 (GRCm39)	S35T	probably damaging	Het
Crebzf	T	C	7: 90,093,342 (GRCm39)		probably benign	Het
Cttnbp2	G	T	6: 18,381,097 (GRCm39)	N1366K	probably benign	Het
Cubn	C	A	2: 13,393,750 (GRCm39)	C1417F	probably damaging	Het
Dot1l	C	T	10: 80,626,627 (GRCm39)	P162S	probably benign	Het
Epc1	G	A	18: 6,490,690 (GRCm39)		probably benign	Het
Eps8l1	A	G	7: 4,480,895 (GRCm39)	S613G	possibly damaging	Het
Erich6	T	G	3: 58,532,537 (GRCm39)	I357L	probably benign	Het
Foxj3	T	A	4: 119,477,155 (GRCm39)	S288T	possibly damaging	Het
Gls2	T	G	10: 128,040,578 (GRCm39)	Y326*	probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm7535	T	C	17: 18,132,061 (GRCm39)		probably benign	Het
Gxylt2	T	G	6: 100,764,179 (GRCm39)	L288R	probably damaging	Het
Kdm4a	T	C	4: 118,017,698 (GRCm39)	Y456C	probably damaging	Het
Mgat4c	T	A	10: 102,225,140 (GRCm39)	F451L	possibly damaging	Het
Mrpl20	G	A	4: 155,888,162 (GRCm39)	R17H	probably damaging	Het
Mtf2	A	G	5: 108,252,365 (GRCm39)	T465A	possibly damaging	Het
Mycbp2	A	C	14: 103,583,757 (GRCm39)	L66R	probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Nr2e1	A	T	10: 42,447,483 (GRCm39)	Y176*	probably null	Het
Obscn	T	C	11: 58,903,541 (GRCm39)	T7628A	possibly damaging	Het
Or7a37	A	T	10: 78,806,390 (GRCm39)	K302N	possibly damaging	Het
Pitx2	T	G	3: 129,009,489 (GRCm39)	V129G	probably damaging	Het
Polr2e	A	G	10: 79,873,897 (GRCm39)		probably benign	Het
Ppard	A	G	17: 28,517,832 (GRCm39)	D300G	probably damaging	Het
Ppp1r27	A	G	11: 120,441,743 (GRCm39)	V46A	probably benign	Het
Prss30	T	G	17: 24,191,750 (GRCm39)	Y257S	probably benign	Het
Ptprd	T	C	4: 75,900,863 (GRCm39)	E1082G	probably damaging	Het
Rab3c	T	A	13: 110,317,611 (GRCm39)	R89S	probably damaging	Het
Rimbp2	A	G	5: 128,874,445 (GRCm39)	V389A	possibly damaging	Het
Rims1	T	A	1: 22,635,623 (GRCm39)	R119S	probably damaging	Het
Sema3b	T	C	9: 107,480,536 (GRCm39)	H137R	probably null	Het
Sf3b4	G	C	3: 96,080,958 (GRCm39)	A89P	probably damaging	Het
Sgta	T	A	10: 80,882,081 (GRCm39)	Q298L	probably damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Sry	T	A	Y: 2,662,982 (GRCm39)	D226V	unknown	Het
Sv2a	A	G	3: 96,092,774 (GRCm39)	E158G	possibly damaging	Het
Sytl2	A	G	7: 90,031,071 (GRCm39)		probably benign	Het
Thbs3	T	A	3: 89,125,283 (GRCm39)		probably benign	Het
Top3a	A	T	11: 60,653,365 (GRCm39)	N56K	possibly damaging	Het
Tyk2	T	C	9: 21,020,677 (GRCm39)	D918G	probably damaging	Het
Uqcrh	A	G	4: 115,924,481 (GRCm39)		probably benign	Het
Vmn1r61	A	G	7: 5,613,814 (GRCm39)	S167P	probably damaging	Het
Wdr25	C	A	12: 108,992,366 (GRCm39)	H74N	probably damaging	Het
Zfp458	T	C	13: 67,404,382 (GRCm39)	N686D	probably benign	Het
Zfp574	T	A	7: 24,780,515 (GRCm39)	H512Q		Het
Zfp976	A	T	7: 42,262,902 (GRCm39)	Y312N	probably benign	Het
Zscan4c	G	A	7: 10,743,462 (GRCm39)	V354I	probably benign	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
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
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'- GTGGGTTCAAACATTGCATTCC -3'
(R):5'- CATCATGCCTCAACACGTTC -3'

Sequencing Primer
(F):5'- CACATGTTCCATTAATAAGCACAGAG -3'
(R):5'- CAACACGTTCTCATAAATTTTTCCC -3'

Posted On

2016-07-22