Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02985:Prune2'

406702

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prune2

Ensembl Gene

ENSMUSG00000039126

Gene Name

prune homolog 2

Synonyms

A230083H22Rik, A330102H22Rik, 6330414G02Rik, Olfaxin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02985

Quality Score

Status

Chromosome

Chromosomal Location

16933482-17201296 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 16993723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087689]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000087689

SMART Domains

Protein: ENSMUSP00000084977
Gene: ENSMUSG00000039126

Domain	Start	End	E-Value	Type
DHHA2	208	351	8.32e-17	SMART
low complexity region	433	445	N/A	INTRINSIC
low complexity region	476	488	N/A	INTRINSIC
low complexity region	547	553	N/A	INTRINSIC
low complexity region	962	975	N/A	INTRINSIC
low complexity region	1071	1082	N/A	INTRINSIC
low complexity region	1368	1378	N/A	INTRINSIC
low complexity region	1533	1545	N/A	INTRINSIC
low complexity region	1668	1685	N/A	INTRINSIC
low complexity region	1740	1751	N/A	INTRINSIC
low complexity region	2162	2175	N/A	INTRINSIC
low complexity region	2222	2233	N/A	INTRINSIC
low complexity region	2591	2606	N/A	INTRINSIC
low complexity region	2731	2744	N/A	INTRINSIC
SEC14	2882	3037	2.08e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224145

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 B-cell CLL/lymphoma 2 and adenovirus E1B 19 kDa interacting family, whose members play roles in many cellular processes including apotosis, cell transformation, and synaptic function. Several functions for this protein have been demonstrated including suppression of Ras homolog family member A activity, which results in reduced stress fiber formation and suppression of oncogenic cellular transformation. A high molecular weight isoform of this protein has also been shown to colocalize with Adaptor protein complex 2, beta-Adaptin and endodermal markers, suggesting an involvement in post-endocytic trafficking. In prostate cancer cells, this gene acts as a tumor suppressor and its expression is regulated by prostate cancer antigen 3, a non-protein coding gene on the opposite DNA strand in an intron of this gene. Prostate cancer antigen 3 regulates levels of this gene through formation of a double-stranded RNA that undergoes adenosine deaminase actin on RNA-dependent adenosine-to-inosine RNA editing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

Allele List at MGI

All alleles(160) : Gene trapped(160)

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	T	C	2: 113,878,641 (GRCm39)	E318G	probably damaging	Het
Birc6	T	C	17: 74,947,185 (GRCm39)	V2968A	probably benign	Het
Bltp1	T	C	3: 37,012,906 (GRCm39)	L1862S	probably damaging	Het
Cfap91	T	A	16: 38,118,634 (GRCm39)	I722F	probably damaging	Het
Csgalnact1	A	G	8: 68,913,695 (GRCm39)	V170A	probably benign	Het
Dnaaf10	G	A	11: 17,179,845 (GRCm39)	G282E	probably damaging	Het
Dph1	A	G	11: 75,074,419 (GRCm39)	V131A	possibly damaging	Het
Galr1	A	T	18: 82,411,855 (GRCm39)	M337K	probably benign	Het
Gm14214	G	T	2: 154,611,374 (GRCm39)	T160N	probably benign	Het
Gpatch8	G	T	11: 102,372,336 (GRCm39)	H401N	unknown	Het
Higd1a	A	G	9: 121,681,596 (GRCm39)	F20L	probably benign	Het
Hmcn1	A	T	1: 150,547,668 (GRCm39)	I2761K	probably damaging	Het
Hspg2	T	A	4: 137,235,114 (GRCm39)	Y83N	probably damaging	Het
Ilvbl	C	T	10: 78,414,901 (GRCm39)	P255S	probably benign	Het
Kpna2	T	C	11: 106,880,163 (GRCm39)	Y495C	probably benign	Het
Krt36	G	T	11: 99,994,005 (GRCm39)	Q327K	probably benign	Het
Lrrc34	T	C	3: 30,690,444 (GRCm39)	M153V	probably benign	Het
Map9	A	T	3: 82,267,209 (GRCm39)	R30*	probably null	Het
Mcf2l	A	G	8: 13,013,239 (GRCm39)	Y48C	probably damaging	Het
Mfsd13b	T	A	7: 120,599,395 (GRCm39)	I397K	probably damaging	Het
Mpp7	C	A	18: 7,461,637 (GRCm39)		probably null	Het
Mrgprx2	C	T	7: 48,132,245 (GRCm39)	C191Y	probably damaging	Het
Or4c58	A	T	2: 89,674,684 (GRCm39)	I211N	possibly damaging	Het
Pabpc4l	A	G	3: 46,401,017 (GRCm39)	V209A	possibly damaging	Het
Pde7a	T	A	3: 19,365,047 (GRCm39)	H40L	probably damaging	Het
Phactr3	T	C	2: 177,817,250 (GRCm39)	V22A	probably benign	Het
Plcl2	G	T	17: 50,994,842 (GRCm39)	E1104*	probably null	Het
Ppp2cb	A	G	8: 34,105,474 (GRCm39)		probably benign	Het
Prl3c1	A	T	13: 27,383,370 (GRCm39)	Y12F	probably damaging	Het
Rfesd	T	C	13: 76,156,331 (GRCm39)	D25G	probably damaging	Het
Rxfp1	C	A	3: 79,559,533 (GRCm39)	M429I	possibly damaging	Het
Tmf1	A	G	6: 97,153,770 (GRCm39)	L101P	probably damaging	Het
Ube2d2b	T	C	5: 107,978,663 (GRCm39)	S105P	probably damaging	Het
Zfp518a	C	T	19: 40,902,111 (GRCm39)	T680I	possibly damaging	Het

Other mutations in Prune2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Prune2	APN	19	17,145,708 (GRCm39)	critical splice donor site	probably null
IGL00848:Prune2	APN	19	17,096,482 (GRCm39)	missense	probably damaging	1.00
IGL00862:Prune2	APN	19	17,096,713 (GRCm39)	missense	probably benign	0.41
IGL00915:Prune2	APN	19	16,993,617 (GRCm39)	missense	probably damaging	1.00
IGL01084:Prune2	APN	19	17,095,573 (GRCm39)	missense	probably benign	0.19
IGL01109:Prune2	APN	19	17,101,243 (GRCm39)	missense	probably benign	0.03
IGL01372:Prune2	APN	19	17,102,433 (GRCm39)	missense	probably damaging	1.00
IGL01650:Prune2	APN	19	17,145,656 (GRCm39)	missense	possibly damaging	0.95
IGL01752:Prune2	APN	19	17,101,267 (GRCm39)	missense	possibly damaging	0.50
IGL01812:Prune2	APN	19	16,981,141 (GRCm39)	missense	possibly damaging	0.50
IGL01902:Prune2	APN	19	17,096,002 (GRCm39)	missense	probably benign	0.00
IGL02195:Prune2	APN	19	17,096,921 (GRCm39)	missense	probably benign	0.00
IGL02502:Prune2	APN	19	17,101,245 (GRCm39)	missense	probably benign	0.00
IGL02569:Prune2	APN	19	17,156,223 (GRCm39)	missense	probably damaging	0.99
IGL02693:Prune2	APN	19	17,101,855 (GRCm39)	missense	probably benign	0.03
IGL02737:Prune2	APN	19	17,170,775 (GRCm39)	nonsense	probably null
IGL02794:Prune2	APN	19	17,096,725 (GRCm39)	missense	probably benign	0.19
IGL03349:Prune2	APN	19	17,100,710 (GRCm39)	missense	probably damaging	1.00
3-1:Prune2	UTSW	19	17,102,646 (GRCm39)	missense	probably benign	0.00
R0060:Prune2	UTSW	19	16,981,097 (GRCm39)	missense	probably damaging	1.00
R0098:Prune2	UTSW	19	17,101,267 (GRCm39)	missense	possibly damaging	0.50
R0098:Prune2	UTSW	19	17,101,267 (GRCm39)	missense	possibly damaging	0.50
R0165:Prune2	UTSW	19	17,099,974 (GRCm39)	missense	probably benign	0.00
R0277:Prune2	UTSW	19	17,098,753 (GRCm39)	missense	probably damaging	0.99
R0321:Prune2	UTSW	19	17,099,818 (GRCm39)	missense	probably benign	0.39
R0321:Prune2	UTSW	19	17,098,291 (GRCm39)	missense	possibly damaging	0.78
R0374:Prune2	UTSW	19	17,098,274 (GRCm39)	missense	probably benign	0.00
R0380:Prune2	UTSW	19	17,101,371 (GRCm39)	missense	probably damaging	1.00
R0396:Prune2	UTSW	19	17,100,444 (GRCm39)	missense	probably benign	0.35
R0408:Prune2	UTSW	19	17,099,674 (GRCm39)	missense	probably benign	0.00
R0421:Prune2	UTSW	19	17,100,675 (GRCm39)	missense	probably benign	0.02
R0480:Prune2	UTSW	19	16,984,156 (GRCm39)	splice site	probably benign
R0531:Prune2	UTSW	19	16,984,117 (GRCm39)	missense	probably damaging	1.00
R0546:Prune2	UTSW	19	16,998,030 (GRCm39)	splice site	probably benign
R0554:Prune2	UTSW	19	17,102,582 (GRCm39)	nonsense	probably null
R0659:Prune2	UTSW	19	17,100,199 (GRCm39)	missense	probably damaging	1.00
R0699:Prune2	UTSW	19	17,101,319 (GRCm39)	missense	probably damaging	1.00
R0781:Prune2	UTSW	19	17,102,586 (GRCm39)	missense	probably benign
R1110:Prune2	UTSW	19	17,102,586 (GRCm39)	missense	probably benign
R1178:Prune2	UTSW	19	17,100,469 (GRCm39)	missense	probably benign	0.22
R1181:Prune2	UTSW	19	17,100,469 (GRCm39)	missense	probably benign	0.22
R1337:Prune2	UTSW	19	17,096,971 (GRCm39)	missense	possibly damaging	0.70
R1356:Prune2	UTSW	19	17,189,681 (GRCm39)	missense	probably benign	0.40
R1385:Prune2	UTSW	19	17,102,312 (GRCm39)	missense	possibly damaging	0.50
R1659:Prune2	UTSW	19	17,098,015 (GRCm39)	missense	possibly damaging	0.59
R1738:Prune2	UTSW	19	17,102,374 (GRCm39)	missense	probably benign	0.01
R1756:Prune2	UTSW	19	17,101,068 (GRCm39)	missense	probably benign	0.01
R1765:Prune2	UTSW	19	17,102,962 (GRCm39)	missense	probably damaging	1.00
R1782:Prune2	UTSW	19	17,099,537 (GRCm39)	missense	probably benign	0.00
R1817:Prune2	UTSW	19	17,099,445 (GRCm39)	missense	probably benign	0.00
R1838:Prune2	UTSW	19	17,177,242 (GRCm39)	missense	probably damaging	1.00
R1851:Prune2	UTSW	19	17,176,503 (GRCm39)	missense	probably damaging	1.00
R1852:Prune2	UTSW	19	17,176,503 (GRCm39)	missense	probably damaging	1.00
R1866:Prune2	UTSW	19	17,100,856 (GRCm39)	missense	probably damaging	1.00
R1911:Prune2	UTSW	19	17,091,038 (GRCm39)	missense	probably benign	0.02
R1983:Prune2	UTSW	19	16,998,006 (GRCm39)	missense	probably damaging	0.97
R2014:Prune2	UTSW	19	17,097,887 (GRCm39)	missense	probably damaging	1.00
R2066:Prune2	UTSW	19	17,098,042 (GRCm39)	missense	possibly damaging	0.57
R2088:Prune2	UTSW	19	17,097,109 (GRCm39)	missense	possibly damaging	0.95
R2111:Prune2	UTSW	19	17,185,602 (GRCm39)	missense	probably damaging	1.00
R2128:Prune2	UTSW	19	17,099,786 (GRCm39)	missense	probably benign	0.00
R2165:Prune2	UTSW	19	17,097,546 (GRCm39)	missense	probably benign	0.19
R2241:Prune2	UTSW	19	17,100,456 (GRCm39)	missense	probably damaging	0.96
R2278:Prune2	UTSW	19	17,095,919 (GRCm39)	missense	possibly damaging	0.93
R2504:Prune2	UTSW	19	16,977,400 (GRCm39)	missense	probably damaging	1.00
R2508:Prune2	UTSW	19	17,099,986 (GRCm39)	missense	probably benign	0.43
R3055:Prune2	UTSW	19	17,102,407 (GRCm39)	missense	probably damaging	0.98
R3086:Prune2	UTSW	19	17,098,777 (GRCm39)	missense	possibly damaging	0.75
R3104:Prune2	UTSW	19	17,096,520 (GRCm39)	missense	probably damaging	1.00
R3105:Prune2	UTSW	19	17,096,520 (GRCm39)	missense	probably damaging	1.00
R3547:Prune2	UTSW	19	17,101,712 (GRCm39)	missense	probably damaging	0.96
R3702:Prune2	UTSW	19	17,156,235 (GRCm39)	missense	probably damaging	1.00
R3753:Prune2	UTSW	19	17,102,818 (GRCm39)	missense	probably benign	0.38
R3933:Prune2	UTSW	19	17,101,318 (GRCm39)	missense	probably damaging	1.00
R3935:Prune2	UTSW	19	17,177,150 (GRCm39)	missense	probably damaging	1.00
R4022:Prune2	UTSW	19	16,977,384 (GRCm39)	missense	probably damaging	1.00
R4042:Prune2	UTSW	19	16,981,190 (GRCm39)	critical splice donor site	probably null
R4164:Prune2	UTSW	19	16,981,098 (GRCm39)	missense	possibly damaging	0.87
R4453:Prune2	UTSW	19	17,099,274 (GRCm39)	missense	probably benign	0.00
R4642:Prune2	UTSW	19	16,998,019 (GRCm39)	critical splice donor site	probably null
R4661:Prune2	UTSW	19	16,977,387 (GRCm39)	missense	probably damaging	1.00
R4666:Prune2	UTSW	19	17,097,552 (GRCm39)	nonsense	probably null
R4823:Prune2	UTSW	19	17,097,868 (GRCm39)	missense	probably damaging	1.00
R4897:Prune2	UTSW	19	17,099,219 (GRCm39)	missense	probably benign	0.03
R4922:Prune2	UTSW	19	17,100,116 (GRCm39)	missense	probably benign	0.00
R4962:Prune2	UTSW	19	17,099,637 (GRCm39)	missense	probably benign	0.11
R5026:Prune2	UTSW	19	17,176,506 (GRCm39)	missense	probably damaging	1.00
R5042:Prune2	UTSW	19	17,097,161 (GRCm39)	missense	possibly damaging	0.94
R5124:Prune2	UTSW	19	17,177,274 (GRCm39)	missense	probably damaging	1.00
R5133:Prune2	UTSW	19	16,980,995 (GRCm39)	missense	probably damaging	1.00
R5184:Prune2	UTSW	19	17,193,721 (GRCm39)	missense	possibly damaging	0.95
R5234:Prune2	UTSW	19	17,096,032 (GRCm39)	missense	probably damaging	1.00
R5339:Prune2	UTSW	19	17,098,236 (GRCm39)	missense	probably damaging	1.00
R5363:Prune2	UTSW	19	17,095,630 (GRCm39)	missense	probably damaging	1.00
R5382:Prune2	UTSW	19	16,981,023 (GRCm39)	missense	probably damaging	1.00
R5436:Prune2	UTSW	19	16,998,007 (GRCm39)	missense	probably damaging	1.00
R5480:Prune2	UTSW	19	17,098,311 (GRCm39)	missense	possibly damaging	0.66
R5635:Prune2	UTSW	19	17,095,573 (GRCm39)	missense	probably benign	0.19
R5678:Prune2	UTSW	19	17,096,032 (GRCm39)	missense	probably damaging	1.00
R5814:Prune2	UTSW	19	16,993,725 (GRCm39)	splice site	probably null
R5894:Prune2	UTSW	19	17,098,755 (GRCm39)	missense	possibly damaging	0.88
R6011:Prune2	UTSW	19	17,096,080 (GRCm39)	missense	probably benign	0.35
R6207:Prune2	UTSW	19	17,095,480 (GRCm39)	missense	probably damaging	1.00
R6218:Prune2	UTSW	19	17,098,926 (GRCm39)	missense	probably benign	0.00
R6573:Prune2	UTSW	19	17,098,522 (GRCm39)	missense	possibly damaging	0.61
R6573:Prune2	UTSW	19	17,098,521 (GRCm39)	missense	probably damaging	1.00
R6734:Prune2	UTSW	19	16,981,097 (GRCm39)	missense	probably damaging	1.00
R6805:Prune2	UTSW	19	17,097,954 (GRCm39)	missense	probably benign
R6837:Prune2	UTSW	19	17,156,292 (GRCm39)	missense	probably damaging	1.00
R6850:Prune2	UTSW	19	17,099,552 (GRCm39)	missense	probably benign	0.00
R6858:Prune2	UTSW	19	17,095,470 (GRCm39)	missense	possibly damaging	0.70
R6874:Prune2	UTSW	19	17,100,592 (GRCm39)	missense	probably damaging	1.00
R6954:Prune2	UTSW	19	16,977,385 (GRCm39)	missense	probably damaging	1.00
R7098:Prune2	UTSW	19	17,097,966 (GRCm39)	missense	probably benign	0.39
R7102:Prune2	UTSW	19	17,098,577 (GRCm39)	missense	probably benign	0.24
R7246:Prune2	UTSW	19	17,098,732 (GRCm39)	missense	probably damaging	0.99
R7284:Prune2	UTSW	19	17,097,250 (GRCm39)	missense	probably damaging	1.00
R7295:Prune2	UTSW	19	17,097,261 (GRCm39)	missense	probably benign	0.01
R7371:Prune2	UTSW	19	17,096,734 (GRCm39)	missense	probably benign	0.02
R7651:Prune2	UTSW	19	17,097,772 (GRCm39)	missense	probably damaging	1.00
R7830:Prune2	UTSW	19	17,100,038 (GRCm39)	missense	probably benign	0.21
R7872:Prune2	UTSW	19	17,096,798 (GRCm39)	missense	probably benign	0.05
R7881:Prune2	UTSW	19	17,100,393 (GRCm39)	missense	possibly damaging	0.50
R7966:Prune2	UTSW	19	17,156,223 (GRCm39)	missense	probably damaging	0.99
R7969:Prune2	UTSW	19	17,179,034 (GRCm39)	missense	probably damaging	0.98
R8092:Prune2	UTSW	19	17,097,357 (GRCm39)	missense	probably damaging	1.00
R8110:Prune2	UTSW	19	17,098,083 (GRCm39)	missense	probably benign	0.22
R8115:Prune2	UTSW	19	17,101,288 (GRCm39)	missense	probably benign	0.02
R8129:Prune2	UTSW	19	17,096,200 (GRCm39)	missense	probably benign	0.01
R8169:Prune2	UTSW	19	17,102,455 (GRCm39)	missense	probably benign	0.10
R8171:Prune2	UTSW	19	17,097,882 (GRCm39)	missense	probably damaging	1.00
R8176:Prune2	UTSW	19	17,095,656 (GRCm39)	missense	probably damaging	1.00
R8200:Prune2	UTSW	19	17,102,337 (GRCm39)	missense	probably benign	0.01
R8217:Prune2	UTSW	19	17,097,480 (GRCm39)	missense	probably benign	0.01
R8258:Prune2	UTSW	19	17,189,672 (GRCm39)	missense	unknown
R8259:Prune2	UTSW	19	17,189,672 (GRCm39)	missense	unknown
R8289:Prune2	UTSW	19	17,100,373 (GRCm39)	missense	probably benign	0.43
R8329:Prune2	UTSW	19	17,098,629 (GRCm39)	missense	probably benign	0.02
R8342:Prune2	UTSW	19	17,103,027 (GRCm39)	missense	probably benign	0.01
R8558:Prune2	UTSW	19	17,099,602 (GRCm39)	missense	probably damaging	0.98
R8732:Prune2	UTSW	19	17,097,769 (GRCm39)	missense	probably damaging	1.00
R8743:Prune2	UTSW	19	17,096,920 (GRCm39)	missense	probably benign	0.22
R8769:Prune2	UTSW	19	17,100,442 (GRCm39)	missense	probably damaging	0.96
R8862:Prune2	UTSW	19	17,097,510 (GRCm39)	missense	probably benign	0.04
R8936:Prune2	UTSW	19	17,099,199 (GRCm39)	missense	probably benign	0.24
R9040:Prune2	UTSW	19	17,097,991 (GRCm39)	missense	probably damaging	1.00
R9084:Prune2	UTSW	19	17,097,741 (GRCm39)	missense	probably damaging	1.00
R9224:Prune2	UTSW	19	17,097,393 (GRCm39)	missense	probably damaging	1.00
R9273:Prune2	UTSW	19	17,095,690 (GRCm39)	missense	possibly damaging	0.74
R9275:Prune2	UTSW	19	17,101,144 (GRCm39)	missense	probably benign	0.06
R9278:Prune2	UTSW	19	17,101,144 (GRCm39)	missense	probably benign	0.06
R9290:Prune2	UTSW	19	17,145,691 (GRCm39)	missense	probably benign	0.41
R9305:Prune2	UTSW	19	17,097,625 (GRCm39)	missense	probably benign	0.14
R9317:Prune2	UTSW	19	17,099,034 (GRCm39)	missense	probably benign	0.00
R9354:Prune2	UTSW	19	17,099,986 (GRCm39)	missense	probably benign	0.43
R9373:Prune2	UTSW	19	17,099,502 (GRCm39)	missense	probably benign
R9394:Prune2	UTSW	19	16,981,053 (GRCm39)	missense	probably damaging	1.00
R9405:Prune2	UTSW	19	17,193,708 (GRCm39)	missense	probably damaging	0.99
R9476:Prune2	UTSW	19	17,096,706 (GRCm39)	missense	possibly damaging	0.64
R9532:Prune2	UTSW	19	17,099,794 (GRCm39)	missense	probably benign	0.00
X0019:Prune2	UTSW	19	17,098,881 (GRCm39)	missense	probably benign	0.16
X0028:Prune2	UTSW	19	17,100,249 (GRCm39)	missense	probably damaging	1.00
X0064:Prune2	UTSW	19	17,099,739 (GRCm39)	missense	probably damaging	1.00
X0066:Prune2	UTSW	19	17,096,154 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02