Mutagenetix > Incidental Mutations

Incidental Mutation 'R5193:Pou5f2'

399882

Institutional Source

Beutler Lab

Gene Symbol

Pou5f2

Ensembl Gene

ENSMUSG00000093668

Gene Name

POU domain class 5, transcription factor 2

Synonyms

Sprm1, 1700013G10Rik

MMRRC Submission

042769-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R5193 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78024902-78026295 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78024964 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 8 (N8K)

Ref Sequence

ENSEMBL: ENSMUSP00000135597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091459] [ENSMUST00000099358] [ENSMUST00000163257] [ENSMUST00000175955] [ENSMUST00000224217]

Predicted Effect

probably benign
Transcript: ENSMUST00000091459

SMART Domains

Protein: ENSMUSP00000089038
Gene: ENSMUSG00000064138

Domain	Start	End	E-Value	Type
Pfam:Arb2	30	178	7.8e-38	PFAM
SCOP:d1imja_	224	295	2e-3	SMART
low complexity region	341	354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099358

SMART Domains

Protein: ENSMUSP00000096960
Gene: ENSMUSG00000064138

Domain	Start	End	E-Value	Type
SCOP:d1imja_	160	231	2e-3	SMART
low complexity region	277	290	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163257

SMART Domains

Protein: ENSMUSP00000133140
Gene: ENSMUSG00000064138

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Arb2	78	228	3.5e-44	PFAM
SCOP:d1imja_	270	341	2e-3	SMART
low complexity region	387	400	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175955
AA Change: N8K

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135597
Gene: ENSMUSG00000093668
AA Change: N8K

Domain	Start	End	E-Value	Type
POU	107	181	8.68e-33	SMART
HOX	199	261	2.57e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224217

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null male mice exhibit reduced male fertility in spite of normal morphology and sperm count. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	T	2: 150,835,306	*56R	probably null	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Arfgap3	C	T	15: 83,332,697	A156T	probably benign	Het
Bpifc	T	C	10: 86,000,633	T3A	probably benign	Het
Ccdc7a	T	A	8: 128,988,797	I269L	probably benign	Het
Cd151	A	G	7: 141,470,693	Y253C	probably damaging	Het
Cenpl	C	A	1: 161,083,467	S328*	probably null	Het
Cfl1	T	A	19: 5,492,552	V20D	probably damaging	Het
Clec14a	A	G	12: 58,268,614	L74P	probably damaging	Het
Cnn1	A	T	9: 22,107,836	D196V	probably damaging	Het
Cst13	C	A	2: 148,828,223	C104*	probably null	Het
Det1	A	G	7: 78,843,554	V234A	probably damaging	Het
Efnb2	A	G	8: 8,623,162	M165T	probably damaging	Het
Fbxo10	T	A	4: 45,051,573	K339*	probably null	Het
Fnta	A	T	8: 26,011,218		probably null	Het
Fsip2	A	T	2: 82,982,994	Y3219F	possibly damaging	Het
Gm340	A	G	19: 41,582,530	D54G	probably damaging	Het
Gprin2	C	T	14: 34,194,875	V313M	possibly damaging	Het
Hars	A	G	18: 36,767,305	L448S	possibly damaging	Het
Hipk3	A	G	2: 104,430,000	I1166T	possibly damaging	Het
Il31ra	T	C	13: 112,524,330	E602G	probably benign	Het
Kctd15	A	G	7: 34,644,857	L123P	probably damaging	Het
Kif1bp	T	C	10: 62,559,396	D489G	possibly damaging	Het
Krt1	C	A	15: 101,845,922	S631I	unknown	Het
Lancl1	T	A	1: 67,021,014	Y84F	probably benign	Het
Mafa	G	T	15: 75,747,817	P36T	unknown	Het
Magi2	G	A	5: 20,358,972		probably null	Het
Mcm9	T	A	10: 53,616,038	I396F	probably damaging	Het
Mrgprh	T	C	17: 12,877,055	F61L	probably damaging	Het
Olfr1	TAGCGGTCGTA	T	11: 73,395,653		probably null	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1141	A	T	2: 87,753,104	D296E	possibly damaging	Het
Olfr1511	A	G	14: 52,390,612	W54R	probably benign	Het
Olfr576	T	A	7: 102,965,936	F279I	possibly damaging	Het
Pcsk5	T	A	19: 17,564,810	T806S	possibly damaging	Het
Pigc	T	C	1: 161,970,896	I149T	possibly damaging	Het
Pou6f2	T	C	13: 18,125,544		probably benign	Het
Prl3d2	T	A	13: 27,122,329	M13K	possibly damaging	Het
Pzp	T	C	6: 128,502,334	N619D	probably benign	Het
Rnps1	G	A	17: 24,418,543	S53N	probably benign	Het
Scaf8	C	G	17: 3,190,165	A604G	probably benign	Het
Scn10a	T	C	9: 119,609,655	N1716S	probably damaging	Het
Slc17a2	A	G	13: 23,819,862		probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Syne2	A	G	12: 76,094,420	D6102G	probably damaging	Het
Tbc1d16	A	T	11: 119,158,820	D283E	probably benign	Het
Tet1	T	C	10: 62,838,247	D1350G	probably benign	Het
Trpa1	A	G	1: 14,875,917	Y997H	possibly damaging	Het
Tyro3	T	C	2: 119,810,517	L494P	probably damaging	Het
Uba6	G	T	5: 86,124,422	Q803K	probably benign	Het
Vgll2	T	A	10: 52,027,992	L317Q	possibly damaging	Het
Wdr62	A	T	7: 30,265,167	I384N	probably damaging	Het
Wdtc1	G	A	4: 133,294,367	R619*	probably null	Het
Xkr6	A	G	14: 63,818,907	D89G	possibly damaging	Het

Other mutations in Pou5f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:Pou5f2	APN	13	78025938	intron	probably benign
IGL01726:Pou5f2	APN	13	78025181	missense	possibly damaging	0.55
IGL02484:Pou5f2	APN	13	78025905	missense	probably damaging	1.00
IGL02549:Pou5f2	APN	13	78025590	missense	probably damaging	0.99
IGL02850:Pou5f2	APN	13	78025059	missense	probably benign	0.00
IGL02852:Pou5f2	APN	13	78025059	missense	probably benign	0.00
IGL02951:Pou5f2	APN	13	78025118	missense	probably benign
R0631:Pou5f2	UTSW	13	78025754	missense	probably benign	0.00
R1502:Pou5f2	UTSW	13	78025251	missense	probably benign	0.14
R2014:Pou5f2	UTSW	13	78025853	missense	probably benign	0.00
R2055:Pou5f2	UTSW	13	78025821	missense	probably benign	0.06
R4082:Pou5f2	UTSW	13	78025905	missense	probably damaging	1.00
R5487:Pou5f2	UTSW	13	78024999	missense	probably benign	0.09
R6880:Pou5f2	UTSW	13	78025494	missense	possibly damaging	0.52
R7108:Pou5f2	UTSW	13	78025265	missense	possibly damaging	0.95
R7117:Pou5f2	UTSW	13	78025273	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CCCGAGGACTGACTAAGTTACC -3'
(R):5'- GTGCTATCCCACCTCGGAATTC -3'

Sequencing Primer
(F):5'- GAGGACTGACTAAGTTACCTCAGTC -3'
(R):5'- TATCCCACCTCGGAATTCATAAGGTG -3'

Posted On

2016-07-06