Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01084:Prune2'

53233

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 #

IGL01084

Quality Score

Status

Chromosome

Chromosomal Location

16933482-17201296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17095573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 359 (V359A)

Ref Sequence

ENSEMBL: ENSMUSP00000084977 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000087689
AA Change: V359A

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000084977
Gene: ENSMUSG00000039126
AA Change: V359A

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

Meta Mutation Damage Score

0.0683

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,546,901 (GRCm39)	Q284K	probably damaging	Het
Adgrd1	A	T	5: 129,216,656 (GRCm39)	N341I	probably benign	Het
Arhgap40	T	C	2: 158,385,138 (GRCm39)	F457S	probably damaging	Het
Cacng5	C	T	11: 107,772,531 (GRCm39)	V106I	probably benign	Het
Catsper1	G	A	19: 5,387,800 (GRCm39)	V360M	probably damaging	Het
Cdc42bpa	T	A	1: 179,969,839 (GRCm39)		probably benign	Het
Cep250	C	T	2: 155,840,313 (GRCm39)	H2424Y	probably benign	Het
Cln3	T	C	7: 126,174,426 (GRCm39)	E304G	probably damaging	Het
Eml2	T	A	7: 18,924,663 (GRCm39)	C177*	probably null	Het
Epha5	G	A	5: 84,218,946 (GRCm39)	R917*	probably null	Het
Gabra2	A	G	5: 71,163,576 (GRCm39)	F244L	probably damaging	Het
Gars1	C	A	6: 55,032,812 (GRCm39)	D261E	probably benign	Het
Gata3os	A	G	2: 9,887,884 (GRCm39)		probably benign	Het
Keg1	A	G	19: 12,691,976 (GRCm39)	K98E	probably damaging	Het
Kif13a	A	G	13: 46,904,110 (GRCm39)		probably benign	Het
Matn1	A	G	4: 130,679,245 (GRCm39)	K300E	probably benign	Het
Mesp1	A	G	7: 79,442,831 (GRCm39)	S149P	probably benign	Het
Mmp10	T	C	9: 7,505,651 (GRCm39)	V305A	possibly damaging	Het
Muc5b	T	C	7: 141,397,186 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,924,884 (GRCm39)	T1181A	probably damaging	Het
Or1r1	A	T	11: 73,875,353 (GRCm39)	L27Q	probably damaging	Het
Or5d35	T	C	2: 87,855,347 (GRCm39)	S94P	probably benign	Het
Or9i16	G	T	19: 13,864,866 (GRCm39)	T236N	probably damaging	Het
Osbpl11	T	C	16: 33,047,221 (GRCm39)		probably benign	Het
Ptch1	T	A	13: 63,691,451 (GRCm39)	E267D	probably damaging	Het
Rbl2	A	G	8: 91,848,941 (GRCm39)	E1049G	probably damaging	Het
Ruvbl2	A	T	7: 45,071,947 (GRCm39)		probably null	Het
Sec23b	A	G	2: 144,406,509 (GRCm39)	I101M	possibly damaging	Het
Srms	A	C	2: 180,848,177 (GRCm39)		probably null	Het
Svep1	T	A	4: 58,111,419 (GRCm39)	T1067S	possibly damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tmem127	T	C	2: 127,099,006 (GRCm39)	V180A	probably damaging	Het
Trpm7	A	G	2: 126,687,992 (GRCm39)		probably null	Het
Trpv3	G	A	11: 73,184,826 (GRCm39)		probably null	Het
Tti1	C	T	2: 157,824,379 (GRCm39)	V1025I	probably damaging	Het
Vmn2r80	A	G	10: 79,030,433 (GRCm39)	Y753C	probably damaging	Het
Vps13d	A	G	4: 144,881,525 (GRCm39)	L1350S	probably benign	Het
Zfp287	G	T	11: 62,604,716 (GRCm39)	Y730*	probably null	Het
Zfp583	A	G	7: 6,320,184 (GRCm39)	F276S	probably damaging	Het
Zfp638	T	C	6: 83,921,780 (GRCm39)	Y636H	probably benign	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
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
IGL02985:Prune2	APN	19	16,993,723 (GRCm39)	critical splice donor site	probably null
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

2013-06-21