Mutagenetix > Incidental Mutation

Incidental Mutation 'R8410:Prex2'

652607

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

067880-MU

Accession Numbers

Essential gene?

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

Stock #

R8410 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11063689-11373905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 11223881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 735 (R735L)

Ref Sequence

ENSEMBL: ENSMUSP00000027056 (fasta)

Gene Model

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

AlphaFold

Q3LAC4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027056
AA Change: R735L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027056
Gene: ENSMUSG00000048960
AA Change: R735L

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

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (40/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	A	T	12: 110,635,145 (GRCm39)	M131K	probably benign	Het
Alox15	T	C	11: 70,235,753 (GRCm39)	T569A	probably benign	Het
Arfgef1	A	G	1: 10,229,867 (GRCm39)	V1278A	possibly damaging	Het
Armc5	C	T	7: 127,839,323 (GRCm39)	R214C	probably damaging	Het
Asl	A	G	5: 130,042,351 (GRCm39)	F242L	possibly damaging	Het
Atoh1	G	A	6: 64,706,634 (GRCm39)	G110S	probably benign	Het
Caskin1	T	C	17: 24,721,123 (GRCm39)	F488L	possibly damaging	Het
Chsy1	T	A	7: 65,775,211 (GRCm39)	L180Q	probably damaging	Het
D1Pas1	A	T	1: 186,700,512 (GRCm39)	Q147L	probably benign	Het
D930020B18Rik	A	G	10: 121,521,435 (GRCm39)		probably benign	Het
Dnah7b	T	A	1: 46,395,819 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,380,791 (GRCm39)	E2512G	possibly damaging	Het
Eci2	T	C	13: 35,162,018 (GRCm39)	K351R	probably benign	Het
Frem2	A	G	3: 53,446,598 (GRCm39)	V2390A	possibly damaging	Het
Frmpd2	G	A	14: 33,217,624 (GRCm39)	A40T	probably damaging	Het
Gapdhs	G	A	7: 30,437,335 (GRCm39)	P77S	unknown	Het
Heatr5a	T	A	12: 51,984,903 (GRCm39)	I637F	probably benign	Het
Jakmip1	G	A	5: 37,274,828 (GRCm39)	V449M	possibly damaging	Het
Myh14	G	T	7: 44,282,907 (GRCm39)	F737L	probably damaging	Het
Nbea	A	G	3: 55,944,684 (GRCm39)	V560A	probably damaging	Het
Or13n4	T	A	7: 106,423,745 (GRCm39)		probably benign	Het
Or2v2	A	T	11: 49,004,511 (GRCm39)	I14N	possibly damaging	Het
Or4f4-ps1	T	A	2: 111,330,047 (GRCm39)	M150K	probably damaging	Het
Or6x1	C	T	9: 40,098,732 (GRCm39)	T107I	possibly damaging	Het
Rrm2	T	C	12: 24,758,622 (GRCm39)	S55P	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Ruvbl2	T	C	7: 45,080,756 (GRCm39)	I19V	probably benign	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Slc15a5	A	T	6: 137,989,153 (GRCm39)	M147K		Het
St3gal5	A	G	6: 72,119,281 (GRCm39)	D158G	probably benign	Het
Stac3	G	A	10: 127,339,199 (GRCm39)	D103N	probably damaging	Het
Syt2	G	A	1: 134,674,602 (GRCm39)	E347K	possibly damaging	Het
Tent5b	A	G	4: 133,214,362 (GRCm39)	Q411R	possibly damaging	Het
Ticrr	A	G	7: 79,317,423 (GRCm39)	E319G	probably damaging	Het
Ttn	A	G	2: 76,539,985 (GRCm39)	S34334P	probably damaging	Het
Uqcrb	C	A	13: 67,048,850 (GRCm39)	R100L	unknown	Het
Usp43	T	G	11: 67,747,146 (GRCm39)	T854P	probably damaging	Het
Vmn2r102	T	C	17: 19,898,196 (GRCm39)	Y404H	possibly damaging	Het
Wrn	C	T	8: 33,759,048 (GRCm39)	G970D	probably damaging	Het
Zfp456	A	G	13: 67,520,915 (GRCm39)	Y27H	probably damaging	Het
Zfp516	G	T	18: 82,974,458 (GRCm39)	G219C	probably damaging	Het
Zyx	A	T	6: 42,333,384 (GRCm39)	N437Y	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
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
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'- AAACGTGCTTCCATTGGTCTG -3'
(R):5'- AGCTTTCATGTGGATCTGGATAC -3'

Sequencing Primer
(F):5'- CCATTGGTCTGCATCTGATAAAG -3'
(R):5'- GGATACAACATCTAGGAACAATTGG -3'

Posted On

2020-10-20