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 (GRCm38)

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] [ENSMUST00000163730] [ENSMUST00000165293] [ENSMUST00000166965] [ENSMUST00000168361] [ENSMUST00000169089] [ENSMUST00000169750] [ENSMUST00000170037] [ENSMUST00000178015]

AlphaFold

Q80U58

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: ENSMUST00000163730

Predicted Effect

probably benign
Transcript: ENSMUST00000165293

Predicted Effect

probably benign
Transcript: ENSMUST00000166965

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

probably benign
Transcript: ENSMUST00000170037

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: 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

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
Yorkshire	UTSW	12	8728726	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
R9039:Pum2	UTSW	12	8744430	missense	probably damaging	1.00
R9207:Pum2	UTSW	12	8713904	missense	probably damaging	0.98
R9366:Pum2	UTSW	12	8733344	missense	probably benign	0.02
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