Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03051:Prex2'

409051

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prex2

Ensembl Gene

ENSMUSG00000048960

Gene Name

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

Synonyms

C030045D06Rik, 6230420N16Rik, Depdc2

Accession Numbers

Essential gene?

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

Stock #

IGL03051

Quality Score

Status

Chromosome

Chromosomal Location

11063689-11373905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11212889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 624 (V624A)

Ref Sequence

ENSEMBL: ENSMUSP00000027056 (fasta)

Gene Model

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

AlphaFold

Q3LAC4

Predicted Effect

probably damaging
Transcript: ENSMUST00000027056
AA Change: V624A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027056
Gene: ENSMUSG00000048960
AA Change: V624A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189822

Coding Region Coverage

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	G	T	6: 86,964,283 (GRCm39)		probably benign	Het
Abhd14a	A	T	9: 106,321,128 (GRCm39)	F76I	possibly damaging	Het
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Akap13	T	A	7: 75,260,233 (GRCm39)	C149*	probably null	Het
Appbp2	A	T	11: 85,082,565 (GRCm39)	D555E	possibly damaging	Het
Arhgap25	T	C	6: 87,472,896 (GRCm39)	Q87R	probably null	Het
Baz1b	T	A	5: 135,246,079 (GRCm39)	N509K	probably benign	Het
Ccn4	T	A	15: 66,778,399 (GRCm39)	C73*	probably null	Het
Ces5a	C	A	8: 94,255,226 (GRCm39)	G156C	probably damaging	Het
Chtf18	G	A	17: 25,939,938 (GRCm39)	R723W	probably damaging	Het
Clec4e	A	G	6: 123,266,692 (GRCm39)	S6P	probably benign	Het
Dennd4a	A	G	9: 64,769,696 (GRCm39)	I468V	probably damaging	Het
Epb41l4a	A	T	18: 34,007,825 (GRCm39)	Y233N	probably damaging	Het
Fam210b	C	T	2: 172,194,612 (GRCm39)	H155Y	probably benign	Het
Frmd4b	A	T	6: 97,272,943 (GRCm39)	C770*	probably null	Het
Gpa33	A	G	1: 165,992,790 (GRCm39)	H301R	probably benign	Het
Gpr39	T	A	1: 125,605,485 (GRCm39)	C138S	probably damaging	Het
Gtf2i	T	A	5: 134,271,768 (GRCm39)	K858*	probably null	Het
Ighv7-1	A	T	12: 113,860,576 (GRCm39)		probably benign	Het
Iglv1	T	C	16: 18,903,973 (GRCm39)	T49A	possibly damaging	Het
Kif17	A	C	4: 138,016,565 (GRCm39)	D416A	probably damaging	Het
Mib2	T	C	4: 155,741,747 (GRCm39)	T431A	probably damaging	Het
Mpz	G	A	1: 170,986,380 (GRCm39)	R98H	probably damaging	Het
Naa16	T	C	14: 79,606,522 (GRCm39)	E337G	probably benign	Het
Odam	G	A	5: 88,040,335 (GRCm39)		probably benign	Het
Or1e1f	T	A	11: 73,855,860 (GRCm39)	L142H	probably benign	Het
Parp2	T	C	14: 51,056,805 (GRCm39)		probably benign	Het
Pcdh7	T	G	5: 58,286,415 (GRCm39)	S1164A	probably damaging	Het
Pkp4	G	T	2: 59,142,106 (GRCm39)	A470S	probably benign	Het
Plin4	A	T	17: 56,412,417 (GRCm39)	M538K	possibly damaging	Het
Rps6ka5	A	C	12: 100,582,250 (GRCm39)		probably null	Het
Simc1	T	C	13: 54,674,036 (GRCm39)	S795P	probably benign	Het
Slc35b4	A	T	6: 34,137,406 (GRCm39)		probably null	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Syt14	T	C	1: 192,615,528 (GRCm39)	N486S	probably benign	Het
Trim59	T	C	3: 68,944,206 (GRCm39)	N378S	probably benign	Het
Wdr17	T	A	8: 55,104,349 (GRCm39)	D908V	probably damaging	Het
Wdr74	A	G	19: 8,716,875 (GRCm39)		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
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	11,355,285 (GRCm39)	missense	probably damaging	1.00
R4214:Prex2	UTSW	1	11,171,383 (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
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

Posted On

2016-08-02