Mutagenetix > Incidental Mutations

Incidental Mutation 'R5155:Pum2'

396683

Institutional Source

Beutler Lab

Gene Symbol

Pum2

Ensembl Gene

ENSMUSG00000020594

Gene Name

pumilio RNA-binding family member 2

Synonyms

5730503J23Rik, Pumm2

MMRRC Submission

042737-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8674134-8752581 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8713572 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 243 (V243A)

Ref Sequence

ENSEMBL: ENSMUSP00000126876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020915] [ENSMUST00000111122] [ENSMUST00000111123] [ENSMUST00000163569] [ENSMUST00000165293] [ENSMUST00000163730] [ENSMUST00000168361] [ENSMUST00000169089] [ENSMUST00000169750] [ENSMUST00000178015] [ENSMUST00000170037] [ENSMUST00000166965]

Predicted Effect

probably benign
Transcript: ENSMUST00000020915
AA Change: V243A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020915
Gene: ENSMUSG00000020594
AA Change: V243A

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 benign
Transcript: ENSMUST00000111122
AA Change: V243A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106751
Gene: ENSMUSG00000020594
AA Change: V243A

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 benign
Transcript: ENSMUST00000111123
AA Change: V243A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106752
Gene: ENSMUSG00000020594
AA Change: V243A

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

possibly damaging
Transcript: ENSMUST00000163569
AA Change: V243A

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131074
Gene: ENSMUSG00000020594
AA Change: V243A

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: ENSMUST00000165293

Predicted Effect

probably benign
Transcript: ENSMUST00000163730

Predicted Effect

unknown
Transcript: ENSMUST00000171418
AA Change: V104A

SMART Domains

Protein: ENSMUSP00000126616
Gene: ENSMUSG00000020594
AA Change: V104A

Domain	Start	End	E-Value	Type
low complexity region	55	68	N/A	INTRINSIC
low complexity region	131	152	N/A	INTRINSIC
low complexity region	180	197	N/A	INTRINSIC
low complexity region	214	234	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168361
AA Change: V243A

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128292
Gene: ENSMUSG00000020594
AA Change: V243A

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

possibly damaging
Transcript: ENSMUST00000169089
AA Change: V243A

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132122
Gene: ENSMUSG00000020594
AA Change: V243A

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

possibly damaging
Transcript: ENSMUST00000169750
AA Change: V243A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126876
Gene: ENSMUSG00000020594
AA Change: V243A

Domain	Start	End	E-Value	Type
low complexity region	193	206	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178015
AA Change: V243A

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137020
Gene: ENSMUSG00000020594
AA Change: V243A

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: ENSMUST00000170037

Predicted Effect

probably benign
Transcript: ENSMUST00000166965

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	C	5: 107,490,703	I323T	probably damaging	Het
Abca13	T	C	11: 9,532,447	V4326A	probably damaging	Het
Actn4	A	G	7: 28,962,017		probably null	Het
Adamts8	A	G	9: 30,954,548	D464G	probably benign	Het
Adssl1	T	C	12: 112,638,208	I366T	probably damaging	Het
Alox12e	T	C	11: 70,316,255	D575G	possibly damaging	Het
Ankrd44	A	T	1: 54,778,330	M73K	probably benign	Het
Ap4e1	A	G	2: 127,063,369	T987A	probably benign	Het
Banp	A	C	8: 122,001,020	S318R	probably damaging	Het
Bcas1	T	C	2: 170,418,618	H47R	probably damaging	Het
Brwd1	G	T	16: 96,002,793	S2524*	probably null	Het
Cand2	T	A	6: 115,792,258	D676E	probably benign	Het
Cc2d1a	A	T	8: 84,141,126	H224Q	probably benign	Het
Ccdc138	A	T	10: 58,507,572	Y83F	probably benign	Het
Ccdc155	C	A	7: 45,189,654	E53*	probably null	Het
Ccdc162	A	T	10: 41,553,580		probably null	Het
Ccdc162	A	C	10: 41,579,151	S396A	probably damaging	Het
Ces1e	A	T	8: 93,201,406	*562R	probably null	Het
Clstn2	T	A	9: 97,456,431	M892L	probably benign	Het
Crybg3	T	C	16: 59,524,901	T2673A	possibly damaging	Het
Cstf3	A	G	2: 104,652,485	N326S	probably benign	Het
Cux1	G	A	5: 136,565,441		probably benign	Het
Cyb5r4	T	G	9: 87,040,403	M155R	probably benign	Het
D130043K22Rik	A	G	13: 24,872,290	D535G	probably damaging	Het
D430042O09Rik	A	G	7: 125,872,184	T1486A	probably damaging	Het
Dnah2	G	A	11: 69,422,536	P4266S	probably damaging	Het
Dnah7a	T	A	1: 53,643,495	N272I	probably benign	Het
Dsg2	A	G	18: 20,598,658	Y779C	possibly damaging	Het
Eif4g3	T	A	4: 138,126,743	N507K	probably benign	Het
Elavl4	T	C	4: 110,292,636	Q3R	probably null	Het
Engase	T	G	11: 118,481,281	I133S	probably benign	Het
Ercc5	T	C	1: 44,180,622	V1018A	probably damaging	Het
Ext1	C	A	15: 53,075,817	W612L	probably damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fam8a1	G	A	13: 46,673,562	A270T	probably benign	Het
Fhdc1	T	G	3: 84,446,150	Q589H	probably benign	Het
Gatm	G	A	2: 122,609,853	T35I	probably benign	Het
Gcgr	T	C	11: 120,537,046	I271T	probably benign	Het
Gm21818	T	C	13: 120,173,553	S124P	probably benign	Het
Gm527	T	A	12: 64,923,607	Y239N	probably damaging	Het
H2-Ab1	A	G	17: 34,267,384	H139R	possibly damaging	Het
Herc2	G	A	7: 56,227,826	R4547Q	possibly damaging	Het
Itga1	A	T	13: 115,035,303	S89T	probably benign	Het
Lrba	A	G	3: 86,351,300	M1365V	probably benign	Het
Lrp1b	A	C	2: 41,728,622		probably null	Het
Map1a	G	A	2: 121,302,386	A990T	probably damaging	Het
Micall2	C	A	5: 139,710,231	L784F	probably damaging	Het
Mmp9	T	C	2: 164,949,066		probably null	Het
Mrps7	T	A	11: 115,604,829	Y64*	probably null	Het
Mslnl	C	T	17: 25,738,968	Q62*	probably null	Het
Nfil3	A	G	13: 52,968,580	L96P	probably damaging	Het
Olfr453	A	G	6: 42,744,814	Y259C	probably damaging	Het
Phf3	T	C	1: 30,824,376	D756G	possibly damaging	Het
Plxnd1	C	T	6: 115,958,988		probably null	Het
Prickle4	C	T	17: 47,690,057		probably null	Het
Prr9	T	A	3: 92,123,049	T95S	possibly damaging	Het
Prrc2a	A	G	17: 35,160,091		probably null	Het
Prrt3	A	G	6: 113,497,559		probably null	Het
Psme4	A	T	11: 30,876,806	Y1775F	probably damaging	Het
Rnf32	T	C	5: 29,203,147	S125P	probably damaging	Het
Rnf8	A	G	17: 29,626,630	Y65C	probably damaging	Het
Rph3a	T	C	5: 120,948,770	T456A	possibly damaging	Het
Scaper	T	A	9: 55,556,086	Q854L	probably null	Het
Sez6l2	T	C	7: 126,962,373	S472P	probably damaging	Het
Spsb3	T	C	17: 24,886,995		probably benign	Het
Srebf2	A	G	15: 82,196,226	D40G	probably damaging	Het
Sspo	A	G	6: 48,460,474	N1389D	probably benign	Het
Taf4b	G	T	18: 14,830,095	A631S	probably benign	Het
Tigd4	G	A	3: 84,594,663	V296M	possibly damaging	Het
Tsc22d2	T	A	3: 58,417,316		probably benign	Het
Uso1	T	A	5: 92,167,335		probably null	Het
Vmn2r6	T	G	3: 64,538,514	N597H	probably benign	Het
Zfc3h1	T	A	10: 115,412,121	S1076R	possibly damaging	Het
Zfp64	T	A	2: 168,906,965	Q44L	probably benign	Het

Other mutations in Pum2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Pum2	APN	12	8733381	missense	probably damaging	1.00
IGL02118:Pum2	APN	12	8729117	missense	probably benign	0.31
IGL02185:Pum2	APN	12	8748955	critical splice donor site	probably null
IGL02528:Pum2	APN	12	8728696	nonsense	probably null
IGL02718:Pum2	APN	12	8733344	missense	probably benign	0.02
Plumbat	UTSW	12	8728779	critical splice donor site	probably null
Pummie	UTSW	12	8713906	nonsense	probably null
PIT4366001:Pum2	UTSW	12	8733390	missense	probably damaging	1.00
R0152:Pum2	UTSW	12	8728754	missense	possibly damaging	0.94
R0317:Pum2	UTSW	12	8728754	missense	possibly damaging	0.94
R0357:Pum2	UTSW	12	8721785	missense	possibly damaging	0.92
R0413:Pum2	UTSW	12	8713464	missense	probably benign	0.00
R0494:Pum2	UTSW	12	8721736	nonsense	probably null
R0520:Pum2	UTSW	12	8721710	missense	probably damaging	1.00
R0727:Pum2	UTSW	12	8744465	missense	probably damaging	1.00
R1576:Pum2	UTSW	12	8713524	missense	probably benign	0.01
R2035:Pum2	UTSW	12	8728638	nonsense	probably null
R2060:Pum2	UTSW	12	8728726	nonsense	probably null
R2422:Pum2	UTSW	12	8748931	missense	possibly damaging	0.70
R2437:Pum2	UTSW	12	8744654	missense	probably benign	0.19
R3767:Pum2	UTSW	12	8719076	nonsense	probably null
R4715:Pum2	UTSW	12	8747272	missense	probably damaging	1.00
R5226:Pum2	UTSW	12	8713458	missense	possibly damaging	0.73
R5323:Pum2	UTSW	12	8744706	missense	probably damaging	1.00
R6250:Pum2	UTSW	12	8744755	splice site	probably null
R6253:Pum2	UTSW	12	8748205	missense	probably damaging	1.00
R6508:Pum2	UTSW	12	8748861	missense	probably benign	0.17
R6953:Pum2	UTSW	12	8728779	critical splice donor site	probably null
R7135:Pum2	UTSW	12	8728952	missense	possibly damaging	0.80
R7355:Pum2	UTSW	12	8713906	nonsense	probably null
R7586:Pum2	UTSW	12	8747206	missense	probably damaging	1.00
R7683:Pum2	UTSW	12	8728922	missense	possibly damaging	0.93
R7869:Pum2	UTSW	12	8713595	missense	probably benign	0.00
R7873:Pum2	UTSW	12	8748802	missense	possibly damaging	0.94
R7980:Pum2	UTSW	12	8713904	missense	probably damaging	0.98
R8166:Pum2	UTSW	12	8721739	missense	possibly damaging	0.71
R8316:Pum2	UTSW	12	8713456	missense	possibly damaging	0.89
R8345:Pum2	UTSW	12	8709454	missense	probably damaging	0.99
R8418:Pum2	UTSW	12	8710245	missense	possibly damaging	0.87
R8802:Pum2	UTSW	12	8728726	nonsense	probably null
X0039:Pum2	UTSW	12	8728944	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAGTAGTTGAGCGCCTTGG -3'
(R):5'- GTCCTCTGAAAGAGCTATCCAG -3'

Sequencing Primer
(F):5'- TGGCCCTAGTACTAATCCCCCAG -3'
(R):5'- ACATCGCAATTCTCATTAAAAAGC -3'

Posted On

2016-06-21