Mutagenetix > Incidental Mutation

Incidental Mutation 'R9290:Pou5f2'

704233

Institutional Source

Beutler Lab

Gene Symbol

Pou5f2

Ensembl Gene

ENSMUSG00000093668

Gene Name

POU domain class 5, transcription factor 2

Synonyms

Sprm1, 1700013G10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R9290 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78173021-78174414 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78173585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 176 (W176R)

Ref Sequence

ENSEMBL: ENSMUSP00000135597 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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 damaging
Transcript: ENSMUST00000175955
AA Change: W176R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135597
Gene: ENSMUSG00000093668
AA Change: W176R

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	A	G	1: 156,457,538 (GRCm39)	K268R	probably damaging	Het
Acvr1	T	C	2: 58,338,330 (GRCm39)	D464G	probably damaging	Het
Adra1d	G	T	2: 131,403,898 (GRCm39)	T64K	probably benign	Het
Cct3	T	C	3: 88,216,536 (GRCm39)	V164A	probably benign	Het
Cdhr2	T	C	13: 54,882,009 (GRCm39)	V1153A	possibly damaging	Het
Cdkn2c	A	C	4: 109,518,512 (GRCm39)	Y147*	probably null	Het
Ces1g	A	T	8: 94,029,545 (GRCm39)	H562Q	probably benign	Het
Cfap221	A	G	1: 119,853,381 (GRCm39)	L771P	probably benign	Het
Chsy3	A	G	18: 59,542,928 (GRCm39)	M689V	probably benign	Het
Ciita	T	A	16: 10,326,513 (GRCm39)	S235T	probably damaging	Het
Cracdl	T	A	1: 37,663,634 (GRCm39)	R755W	probably damaging	Het
Dcdc2a	A	G	13: 25,386,313 (GRCm39)	K396E	probably benign	Het
Dgki	C	T	6: 37,276,780 (GRCm39)	C35Y	unknown	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dnai7	T	C	6: 145,148,688 (GRCm39)	E57G	unknown	Het
Eif3a	A	G	19: 60,765,221 (GRCm39)	V322A	probably damaging	Het
Foxp2	A	T	6: 15,197,120 (GRCm39)	Q54L	possibly damaging	Het
Garin2	T	A	12: 78,759,028 (GRCm39)	V116E	possibly damaging	Het
Gm19410	T	A	8: 36,269,386 (GRCm39)	C1074S	probably damaging	Het
Gtf3c3	T	G	1: 54,477,997 (GRCm39)	E26A	possibly damaging	Het
Hps5	T	C	7: 46,424,331 (GRCm39)	E514G	probably damaging	Het
Ide	A	T	19: 37,302,647 (GRCm39)	D154E		Het
Insm1	T	C	2: 146,065,273 (GRCm39)	V363A	probably benign	Het
Iqgap2	A	T	13: 95,886,523 (GRCm39)	M120K	probably damaging	Het
Kcnh5	T	A	12: 75,023,488 (GRCm39)	I527F	probably benign	Het
Lrtm2	A	G	6: 119,297,792 (GRCm39)	L83P	probably damaging	Het
Map1a	A	G	2: 121,131,014 (GRCm39)	E372G	probably damaging	Het
Mycbp2	A	T	14: 103,425,960 (GRCm39)	H2421Q	probably damaging	Het
Myh15	A	G	16: 48,997,375 (GRCm39)	E1731G	probably damaging	Het
Myt1	A	T	2: 181,437,667 (GRCm39)	H168L	probably benign	Het
Nxph4	A	T	10: 127,362,546 (GRCm39)	V115E	probably damaging	Het
Ofcc1	A	T	13: 40,433,802 (GRCm39)	I101N	possibly damaging	Het
Oog2	T	C	4: 143,923,015 (GRCm39)	F427L	probably benign	Het
Or4c115	A	G	2: 88,928,076 (GRCm39)	L65P	probably damaging	Het
Or4f14b	A	T	2: 111,774,967 (GRCm39)	I278N	possibly damaging	Het
Or5w11	A	G	2: 87,459,209 (GRCm39)	N18S	probably benign	Het
Or8b48	T	C	9: 38,493,334 (GRCm39)	S254P	probably damaging	Het
Or8g27	A	G	9: 39,129,531 (GRCm39)	R293G	probably damaging	Het
Otop1	T	G	5: 38,455,302 (GRCm39)	I232S	probably benign	Het
Pak6	G	A	2: 118,523,883 (GRCm39)	R346Q	probably damaging	Het
Pbk	A	T	14: 66,054,713 (GRCm39)	M282L	probably benign	Het
Pmpcb	T	C	5: 21,944,009 (GRCm39)		probably null	Het
Prkra	G	T	2: 76,478,147 (GRCm39)	S18R	probably benign	Het
Prune2	G	T	19: 17,145,691 (GRCm39)	A2764S	probably benign	Het
Ptpdc1	A	T	13: 48,740,221 (GRCm39)	D403E	probably benign	Het
Pxylp1	T	C	9: 96,722,089 (GRCm39)	E54G	probably damaging	Het
Rap1gap	G	A	4: 137,446,222 (GRCm39)	A325T	probably damaging	Het
Raver2	G	A	4: 100,977,387 (GRCm39)		probably benign	Het
Rbpj	T	C	5: 53,810,745 (GRCm39)	V455A	probably damaging	Het
Rptor	A	T	11: 119,702,823 (GRCm39)	I397F	probably benign	Het
Sacs	G	A	14: 61,421,499 (GRCm39)	M148I	probably benign	Het
Sec16b	A	G	1: 157,373,816 (GRCm39)	Q496R	probably damaging	Het
Sned1	C	A	1: 93,199,385 (GRCm39)	C488*	probably null	Het
Snupn	G	T	9: 56,882,547 (GRCm39)	V187F	possibly damaging	Het
Sorcs2	T	C	5: 36,183,225 (GRCm39)	D1016G	probably damaging	Het
Spta1	T	C	1: 174,045,204 (GRCm39)	M1517T	possibly damaging	Het
Them4	G	T	3: 94,231,630 (GRCm39)	G156C	probably damaging	Het
Tnik	T	C	3: 28,675,124 (GRCm39)	S721P	probably benign	Het
Trpm8	T	C	1: 88,246,767 (GRCm39)	S26P	probably damaging	Het
Ube2e3	A	G	2: 78,750,324 (GRCm39)	I183M	probably damaging	Het
Uhrf2	A	G	19: 30,055,416 (GRCm39)	Y389C	probably damaging	Het
Utp4	T	A	8: 107,642,828 (GRCm39)	D495E	possibly damaging	Het
Vill	C	A	9: 118,890,562 (GRCm39)	N158K	probably benign	Het
Vmn1r219	G	A	13: 23,347,399 (GRCm39)	G196E	probably damaging	Het
Vmn2r101	C	T	17: 19,811,395 (GRCm39)	S493L	probably benign	Het
Vmn2r61	A	G	7: 41,915,385 (GRCm39)	T111A	probably benign	Het
Zbtb40	G	T	4: 136,745,529 (GRCm39)	A168E	probably benign	Het
Zscan18	A	T	7: 12,508,054 (GRCm39)	I482N	probably damaging	Het

Other mutations in Pou5f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:Pou5f2	APN	13	78,174,057 (GRCm39)	intron	probably benign
IGL01726:Pou5f2	APN	13	78,173,300 (GRCm39)	missense	possibly damaging	0.55
IGL02484:Pou5f2	APN	13	78,174,024 (GRCm39)	missense	probably damaging	1.00
IGL02549:Pou5f2	APN	13	78,173,709 (GRCm39)	missense	probably damaging	0.99
IGL02850:Pou5f2	APN	13	78,173,178 (GRCm39)	missense	probably benign	0.00
IGL02852:Pou5f2	APN	13	78,173,178 (GRCm39)	missense	probably benign	0.00
IGL02951:Pou5f2	APN	13	78,173,237 (GRCm39)	missense	probably benign
R0631:Pou5f2	UTSW	13	78,173,873 (GRCm39)	missense	probably benign	0.00
R1502:Pou5f2	UTSW	13	78,173,370 (GRCm39)	missense	probably benign	0.14
R2014:Pou5f2	UTSW	13	78,173,972 (GRCm39)	missense	probably benign	0.00
R2055:Pou5f2	UTSW	13	78,173,940 (GRCm39)	missense	probably benign	0.06
R4082:Pou5f2	UTSW	13	78,174,024 (GRCm39)	missense	probably damaging	1.00
R5193:Pou5f2	UTSW	13	78,173,083 (GRCm39)	missense	probably benign	0.15
R5487:Pou5f2	UTSW	13	78,173,118 (GRCm39)	missense	probably benign	0.09
R6880:Pou5f2	UTSW	13	78,173,613 (GRCm39)	missense	possibly damaging	0.52
R7108:Pou5f2	UTSW	13	78,173,384 (GRCm39)	missense	possibly damaging	0.95
R7117:Pou5f2	UTSW	13	78,173,392 (GRCm39)	missense	probably benign	0.09
R8334:Pou5f2	UTSW	13	78,173,392 (GRCm39)	missense	probably benign	0.09
R8836:Pou5f2	UTSW	13	78,173,886 (GRCm39)	missense	probably damaging	1.00
R9584:Pou5f2	UTSW	13	78,173,592 (GRCm39)	missense	possibly damaging	0.93
Z1176:Pou5f2	UTSW	13	78,173,216 (GRCm39)	missense	probably benign	0.00
Z1177:Pou5f2	UTSW	13	78,173,820 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTTTCAGCCATACAGAAAGAGATG -3'
(R):5'- TGGACCAGGTCTTTCTGCAG -3'

Sequencing Primer
(F):5'- CCATACAGAAAGAGATGGAGCAGC -3'
(R):5'- AGGTCTTTCTGCAGCCGGAG -3'

Posted On

2022-03-25