Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00737:Pum2'

13229

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pum2

Ensembl Gene

ENSMUSG00000020594

Gene Name

pumilio RNA-binding family member 2

Synonyms

Pumm2, 5730503J23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00737

Quality Score

Status

Chromosome

Chromosomal Location

8724134-8802581 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8783381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 610 (Y610C)

Ref Sequence

ENSEMBL: ENSMUSP00000128292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020915] [ENSMUST00000111122] [ENSMUST00000111123] [ENSMUST00000163569] [ENSMUST00000165293] [ENSMUST00000168361] [ENSMUST00000169089] [ENSMUST00000178015]

AlphaFold

Q80U58

Predicted Effect

probably benign
Transcript: ENSMUST00000020915

SMART Domains

Protein: ENSMUSP00000020915
Gene: ENSMUSG00000020594

Domain	Start	End	E-Value	Type
low complexity region	193	206	N/A	INTRINSIC
low complexity region	269	290	N/A	INTRINSIC
low complexity region	319	336	N/A	INTRINSIC
low complexity region	353	378	N/A	INTRINSIC
low complexity region	464	490	N/A	INTRINSIC
low complexity region	498	509	N/A	INTRINSIC
low complexity region	521	535	N/A	INTRINSIC
low complexity region	542	576	N/A	INTRINSIC
low complexity region	591	609	N/A	INTRINSIC
Pumilio	642	677	2.35e-7	SMART
Pumilio	678	713	6.54e-6	SMART
Pumilio	714	749	2.89e-7	SMART
Pumilio	750	785	3.37e-8	SMART
Pumilio	786	821	4.84e-9	SMART
Pumilio	822	857	3.2e-9	SMART
Pumilio	858	893	5.78e-7	SMART
Pumilio	901	936	3.62e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111122
AA Change: Y610C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106751
Gene: ENSMUSG00000020594
AA Change: Y610C

Domain	Start	End	E-Value	Type
low complexity region	193	206	N/A	INTRINSIC
low complexity region	269	290	N/A	INTRINSIC
low complexity region	324	341	N/A	INTRINSIC
low complexity region	358	383	N/A	INTRINSIC
low complexity region	469	495	N/A	INTRINSIC
low complexity region	503	514	N/A	INTRINSIC
low complexity region	526	540	N/A	INTRINSIC
low complexity region	547	602	N/A	INTRINSIC
low complexity region	630	660	N/A	INTRINSIC
low complexity region	675	693	N/A	INTRINSIC
Pumilio	726	761	2.35e-7	SMART
Pumilio	762	797	6.54e-6	SMART
Pumilio	798	833	2.89e-7	SMART
Pumilio	834	869	3.37e-8	SMART
Pumilio	870	905	4.84e-9	SMART
Pumilio	906	941	3.2e-9	SMART
Pumilio	942	977	5.78e-7	SMART
Pumilio	985	1020	3.62e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111123
AA Change: Y610C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106752
Gene: ENSMUSG00000020594
AA Change: Y610C

Domain	Start	End	E-Value	Type
low complexity region	193	206	N/A	INTRINSIC
low complexity region	269	290	N/A	INTRINSIC
low complexity region	324	341	N/A	INTRINSIC
low complexity region	358	383	N/A	INTRINSIC
low complexity region	469	495	N/A	INTRINSIC
low complexity region	503	514	N/A	INTRINSIC
low complexity region	526	540	N/A	INTRINSIC
low complexity region	547	602	N/A	INTRINSIC
low complexity region	630	660	N/A	INTRINSIC
low complexity region	675	693	N/A	INTRINSIC
Pumilio	726	761	2.35e-7	SMART
Pumilio	762	797	6.54e-6	SMART
Pumilio	798	833	2.89e-7	SMART
Pumilio	834	869	3.37e-8	SMART
Pumilio	870	905	4.84e-9	SMART
Pumilio	906	941	3.2e-9	SMART
Pumilio	942	977	5.78e-7	SMART
Pumilio	985	1020	3.62e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000163569
AA Change: Y610C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131074
Gene: ENSMUSG00000020594
AA Change: Y610C

Domain	Start	End	E-Value	Type
low complexity region	193	206	N/A	INTRINSIC
low complexity region	269	290	N/A	INTRINSIC
low complexity region	324	341	N/A	INTRINSIC
low complexity region	358	383	N/A	INTRINSIC
low complexity region	469	495	N/A	INTRINSIC
low complexity region	503	514	N/A	INTRINSIC
low complexity region	526	540	N/A	INTRINSIC
low complexity region	547	602	N/A	INTRINSIC
low complexity region	630	660	N/A	INTRINSIC
low complexity region	675	693	N/A	INTRINSIC
Pumilio	726	761	2.35e-7	SMART
Pumilio	762	797	6.54e-6	SMART
Pumilio	798	832	1.29e-4	SMART
Pumilio	836	871	3.37e-8	SMART
Pumilio	872	907	4.84e-9	SMART
Pumilio	908	943	3.2e-9	SMART
Pumilio	944	979	5.78e-7	SMART
Pumilio	987	1022	3.62e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164818

SMART Domains

Protein: ENSMUSP00000129243
Gene: ENSMUSG00000020594

Domain	Start	End	E-Value	Type
low complexity region	24	42	N/A	INTRINSIC
Pumilio	75	110	2.35e-7	SMART
Pumilio	111	139	1.58e1	SMART
Pumilio	140	175	3.37e-8	SMART
Pumilio	176	211	4.84e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165293

Predicted Effect

probably damaging
Transcript: ENSMUST00000168361
AA Change: Y610C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128292
Gene: ENSMUSG00000020594
AA Change: Y610C

Domain	Start	End	E-Value	Type
low complexity region	193	206	N/A	INTRINSIC
low complexity region	269	290	N/A	INTRINSIC
low complexity region	324	341	N/A	INTRINSIC
low complexity region	358	383	N/A	INTRINSIC
low complexity region	469	495	N/A	INTRINSIC
low complexity region	503	514	N/A	INTRINSIC
low complexity region	526	540	N/A	INTRINSIC
low complexity region	547	602	N/A	INTRINSIC
low complexity region	630	660	N/A	INTRINSIC
low complexity region	675	693	N/A	INTRINSIC
Pumilio	726	761	2.35e-7	SMART
Pumilio	762	797	6.54e-6	SMART
Pumilio	798	832	1.29e-4	SMART
Pumilio	836	871	3.37e-8	SMART
Pumilio	872	907	4.84e-9	SMART
Pumilio	908	943	3.2e-9	SMART
Pumilio	944	979	5.78e-7	SMART
Pumilio	987	1022	3.62e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169089

SMART Domains

Protein: ENSMUSP00000132122
Gene: ENSMUSG00000020594

Domain	Start	End	E-Value	Type
low complexity region	193	206	N/A	INTRINSIC
low complexity region	269	290	N/A	INTRINSIC
low complexity region	324	341	N/A	INTRINSIC
low complexity region	358	383	N/A	INTRINSIC
low complexity region	469	495	N/A	INTRINSIC
low complexity region	503	514	N/A	INTRINSIC
low complexity region	526	540	N/A	INTRINSIC
low complexity region	547	581	N/A	INTRINSIC
low complexity region	596	614	N/A	INTRINSIC
Pumilio	647	682	2.35e-7	SMART
Pumilio	683	718	6.54e-6	SMART
Pumilio	719	754	2.89e-7	SMART
Pumilio	755	790	3.37e-8	SMART
Pumilio	791	826	4.84e-9	SMART
Pumilio	827	862	3.2e-9	SMART
Pumilio	863	898	5.78e-7	SMART
Pumilio	906	941	3.62e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178015

SMART Domains

Protein: ENSMUSP00000137020
Gene: ENSMUSG00000020594

Domain	Start	End	E-Value	Type
low complexity region	193	206	N/A	INTRINSIC
low complexity region	269	290	N/A	INTRINSIC
low complexity region	324	341	N/A	INTRINSIC
low complexity region	358	383	N/A	INTRINSIC
low complexity region	469	495	N/A	INTRINSIC
low complexity region	503	514	N/A	INTRINSIC
low complexity region	526	540	N/A	INTRINSIC
low complexity region	547	581	N/A	INTRINSIC
low complexity region	596	614	N/A	INTRINSIC
Pumilio	647	682	2.35e-7	SMART
Pumilio	683	718	6.54e-6	SMART
Pumilio	719	754	2.89e-7	SMART
Pumilio	755	790	3.37e-8	SMART
Pumilio	791	826	4.84e-9	SMART
Pumilio	827	862	3.2e-9	SMART
Pumilio	863	898	5.78e-7	SMART
Pumilio	906	941	3.62e-8	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a family of RNA-binding proteins. The encoded protein functions as a translational repressor during embryonic development and cell differentiation. This protein is also thought to be a positive regulator of cell proliferation in adipose-derived stem cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit significantly smaller testes and seminiferous tubule degeneration but are otherwise viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,087,823 (GRCm39)		probably benign	Het
AI597479	T	G	1: 43,140,018 (GRCm39)	H81Q	probably benign	Het
Alcam	A	T	16: 52,073,543 (GRCm39)	L561Q	unknown	Het
Cd8a	T	C	6: 71,350,691 (GRCm39)	V52A	probably benign	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Cpsf2	T	C	12: 101,949,725 (GRCm39)	V119A	probably damaging	Het
Cry1	T	C	10: 84,978,904 (GRCm39)	N541D	probably benign	Het
Dock8	A	G	19: 25,160,340 (GRCm39)	T1748A	probably benign	Het
Kifap3	A	T	1: 163,624,839 (GRCm39)	I132F	probably damaging	Het
Lcor	A	G	19: 41,541,139 (GRCm39)	T68A	probably damaging	Het
Lpcat2	A	G	8: 93,635,834 (GRCm39)	D372G	probably damaging	Het
Mrpl30	G	A	1: 37,934,457 (GRCm39)	R33H	probably benign	Het
Ncstn	A	G	1: 171,901,968 (GRCm39)	Y151H	probably benign	Het
Parp4	A	G	14: 56,821,620 (GRCm39)	T2A	probably damaging	Het
Plxna2	G	A	1: 194,428,547 (GRCm39)		probably benign	Het
Rabl6	T	C	2: 25,474,132 (GRCm39)		probably benign	Het
Wdr33	T	A	18: 32,011,169 (GRCm39)	W273R	probably damaging	Het
Wdr59	T	C	8: 112,185,368 (GRCm39)	N855S	probably damaging	Het
Wipi2	T	A	5: 142,652,625 (GRCm39)	D412E	probably benign	Het
Zfp28	T	C	7: 6,396,429 (GRCm39)	*56Q	probably null	Het
Zfyve16	T	A	13: 92,657,626 (GRCm39)	K762*	probably null	Het

Other mutations in Pum2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02118:Pum2	APN	12	8,779,117 (GRCm39)	missense	probably benign	0.31
IGL02185:Pum2	APN	12	8,798,955 (GRCm39)	critical splice donor site	probably null
IGL02528:Pum2	APN	12	8,778,696 (GRCm39)	nonsense	probably null
IGL02718:Pum2	APN	12	8,783,344 (GRCm39)	missense	probably benign	0.02
Plumbat	UTSW	12	8,778,779 (GRCm39)	critical splice donor site	probably null
Pummie	UTSW	12	8,763,906 (GRCm39)	nonsense	probably null
Yorkshire	UTSW	12	8,778,726 (GRCm39)	nonsense	probably null
PIT4366001:Pum2	UTSW	12	8,783,390 (GRCm39)	missense	probably damaging	1.00
R0152:Pum2	UTSW	12	8,778,754 (GRCm39)	missense	possibly damaging	0.94
R0317:Pum2	UTSW	12	8,778,754 (GRCm39)	missense	possibly damaging	0.94
R0357:Pum2	UTSW	12	8,771,785 (GRCm39)	missense	possibly damaging	0.92
R0413:Pum2	UTSW	12	8,763,464 (GRCm39)	missense	probably benign	0.00
R0494:Pum2	UTSW	12	8,771,736 (GRCm39)	nonsense	probably null
R0520:Pum2	UTSW	12	8,771,710 (GRCm39)	missense	probably damaging	1.00
R0727:Pum2	UTSW	12	8,794,465 (GRCm39)	missense	probably damaging	1.00
R1576:Pum2	UTSW	12	8,763,524 (GRCm39)	missense	probably benign	0.01
R2035:Pum2	UTSW	12	8,778,638 (GRCm39)	nonsense	probably null
R2060:Pum2	UTSW	12	8,778,726 (GRCm39)	nonsense	probably null
R2422:Pum2	UTSW	12	8,798,931 (GRCm39)	missense	possibly damaging	0.70
R2437:Pum2	UTSW	12	8,794,654 (GRCm39)	missense	probably benign	0.19
R3767:Pum2	UTSW	12	8,769,076 (GRCm39)	nonsense	probably null
R4715:Pum2	UTSW	12	8,797,272 (GRCm39)	missense	probably damaging	1.00
R5155:Pum2	UTSW	12	8,763,572 (GRCm39)	missense	possibly damaging	0.79
R5226:Pum2	UTSW	12	8,763,458 (GRCm39)	missense	possibly damaging	0.73
R5323:Pum2	UTSW	12	8,794,706 (GRCm39)	missense	probably damaging	1.00
R6250:Pum2	UTSW	12	8,794,755 (GRCm39)	splice site	probably null
R6253:Pum2	UTSW	12	8,798,205 (GRCm39)	missense	probably damaging	1.00
R6508:Pum2	UTSW	12	8,798,861 (GRCm39)	missense	probably benign	0.17
R6953:Pum2	UTSW	12	8,778,779 (GRCm39)	critical splice donor site	probably null
R7135:Pum2	UTSW	12	8,778,952 (GRCm39)	missense	possibly damaging	0.80
R7355:Pum2	UTSW	12	8,763,906 (GRCm39)	nonsense	probably null
R7586:Pum2	UTSW	12	8,797,206 (GRCm39)	missense	probably damaging	1.00
R7683:Pum2	UTSW	12	8,778,922 (GRCm39)	missense	possibly damaging	0.93
R7869:Pum2	UTSW	12	8,763,595 (GRCm39)	missense	probably benign	0.00
R7873:Pum2	UTSW	12	8,798,802 (GRCm39)	missense	possibly damaging	0.94
R7980:Pum2	UTSW	12	8,763,904 (GRCm39)	missense	probably damaging	0.98
R8166:Pum2	UTSW	12	8,771,739 (GRCm39)	missense	possibly damaging	0.71
R8316:Pum2	UTSW	12	8,763,456 (GRCm39)	missense	possibly damaging	0.89
R8345:Pum2	UTSW	12	8,759,454 (GRCm39)	missense	probably damaging	0.99
R8418:Pum2	UTSW	12	8,760,245 (GRCm39)	missense	possibly damaging	0.87
R8802:Pum2	UTSW	12	8,778,726 (GRCm39)	nonsense	probably null
R9039:Pum2	UTSW	12	8,794,430 (GRCm39)	missense	probably damaging	1.00
R9207:Pum2	UTSW	12	8,763,904 (GRCm39)	missense	probably damaging	0.98
R9366:Pum2	UTSW	12	8,783,344 (GRCm39)	missense	probably benign	0.02
R9700:Pum2	UTSW	12	8,779,044 (GRCm39)	missense	probably damaging	0.97
X0039:Pum2	UTSW	12	8,778,944 (GRCm39)	small deletion	probably benign

Posted On

2012-12-06