Mutagenetix > Incidental Mutation

Incidental Mutation 'R1443:Nanos2'

158650

Institutional Source

Beutler Lab

Gene Symbol

Nanos2

Ensembl Gene

ENSMUSG00000051965

Gene Name

nanos C2HC-type zinc finger 2

Synonyms

nos2

MMRRC Submission

039498-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18721449-18722887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18721564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 12 (Y12C)

Ref Sequence

ENSEMBL: ENSMUSP00000069765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059331] [ENSMUST00000063563] [ENSMUST00000131087]

AlphaFold

P60322

Predicted Effect

probably benign
Transcript: ENSMUST00000059331

SMART Domains

Protein: ENSMUSP00000058718
Gene: ENSMUSG00000048481

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
SANT	20	90	4.06e-5	SMART
low complexity region	125	157	N/A	INTRINSIC
low complexity region	212	250	N/A	INTRINSIC
low complexity region	278	322	N/A	INTRINSIC
low complexity region	323	347	N/A	INTRINSIC
low complexity region	358	374	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000063563
AA Change: Y12C

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

SMART Domains

Protein: ENSMUSP00000069765
Gene: ENSMUSG00000051965
AA Change: Y12C

Domain	Start	End	E-Value	Type
Pfam:zf-nanos	61	114	1.9e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000098778

SMART Domains

Protein: ENSMUSP00000096375
Gene: ENSMUSG00000074355

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
low complexity region	84	107	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130268

SMART Domains

Protein: ENSMUSP00000120697
Gene: ENSMUSG00000048481

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
SANT	20	90	4.06e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131087

SMART Domains

Protein: ENSMUSP00000117357
Gene: ENSMUSG00000048481

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
SANT	20	90	4.06e-5	SMART
low complexity region	125	157	N/A	INTRINSIC
low complexity region	212	250	N/A	INTRINSIC
low complexity region	278	322	N/A	INTRINSIC
low complexity region	323	347	N/A	INTRINSIC
low complexity region	358	374	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205810

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 85.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Whereas homozygous mutant female mice are fertile and show no morphological or functional abnormalities of the ovaries, the testes of homozygous mutant male mice are reduced in weight and devoid of germ cells. The spermatogenic defects appear to be associated with increased apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	G	14: 29,706,056 (GRCm39)	M99V	possibly damaging	Het
Adamtsl2	T	A	2: 26,993,078 (GRCm39)	C703S	possibly damaging	Het
Afap1	G	T	5: 36,126,005 (GRCm39)	K333N	probably damaging	Het
Aldh3a2	G	A	11: 61,155,133 (GRCm39)	S137L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aoc1	A	T	6: 48,882,379 (GRCm39)	K107M	possibly damaging	Het
Aoc1l1	A	T	6: 48,952,849 (GRCm39)	Y258F	probably damaging	Het
Bltp2	T	A	11: 78,153,624 (GRCm39)	S56R	probably damaging	Het
Bmp8a	G	T	4: 123,210,758 (GRCm39)	S252R	possibly damaging	Het
C7	T	C	15: 5,088,901 (GRCm39)	I13M	probably benign	Het
Cblb	T	A	16: 51,959,974 (GRCm39)	D322E	possibly damaging	Het
Cfap54	G	A	10: 92,768,583 (GRCm39)	T180I	probably damaging	Het
Clrn2	C	T	5: 45,617,453 (GRCm39)	A108V	probably damaging	Het
Cspg4	T	A	9: 56,793,796 (GRCm39)	D510E	probably damaging	Het
Cyp2c40	A	T	19: 39,766,415 (GRCm39)	N393K	possibly damaging	Het
Dcaf5	T	C	12: 80,410,843 (GRCm39)	Y294C	probably damaging	Het
Dclk3	T	A	9: 111,298,088 (GRCm39)	M544K	probably benign	Het
Ell3	A	T	2: 121,269,946 (GRCm39)	F388I	probably damaging	Het
Fam78b	A	G	1: 166,906,329 (GRCm39)	I163V	probably damaging	Het
Gnptab	T	C	10: 88,269,943 (GRCm39)	L882P	probably damaging	Het
Herc2	A	T	7: 55,854,481 (GRCm39)	D3802V	possibly damaging	Het
Hs3st5	A	G	10: 36,709,410 (GRCm39)	E315G	probably benign	Het
Idh3b	A	T	2: 130,125,974 (GRCm39)		probably null	Het
Lama4	G	A	10: 38,949,639 (GRCm39)	E911K	probably damaging	Het
Macf1	A	G	4: 123,404,800 (GRCm39)	I436T	probably damaging	Het
Mgam	C	A	6: 40,736,714 (GRCm39)	S871*	probably null	Het
Mtmr7	A	G	8: 41,013,923 (GRCm39)	S212P	probably damaging	Het
Mylk2	A	G	2: 152,761,336 (GRCm39)	T480A	probably damaging	Het
Myo3a	A	T	2: 22,287,437 (GRCm39)	N191I	probably damaging	Het
Nanog	C	T	6: 122,688,734 (GRCm39)	S105F	probably damaging	Het
Nsg1	C	T	5: 38,312,987 (GRCm39)	V71I	probably benign	Het
Or10g3	A	T	14: 52,610,408 (GRCm39)	I34N	probably damaging	Het
Or13a1	T	C	6: 116,471,386 (GRCm39)	L272S	probably benign	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or51a42	A	T	7: 103,707,930 (GRCm39)	I293N	probably damaging	Het
Or5b105	G	T	19: 13,080,568 (GRCm39)	Y33*	probably null	Het
Pcdhb17	A	G	18: 37,619,701 (GRCm39)	Q497R	probably benign	Het
Pcsk7	C	A	9: 45,837,284 (GRCm39)	P536Q	probably damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Phyhip	A	G	14: 70,704,731 (GRCm39)	K317E	probably damaging	Het
Pkhd1	C	T	1: 20,604,782 (GRCm39)	G1178R	probably damaging	Het
Ppp1r9a	G	A	6: 5,057,557 (GRCm39)	G544D	probably damaging	Het
Ptpn3	T	C	4: 57,225,775 (GRCm39)	D480G	probably benign	Het
Ptprn2	A	T	12: 117,217,235 (GRCm39)	K918N	probably damaging	Het
Rab42	T	C	4: 132,029,658 (GRCm39)	D188G	probably benign	Het
Rasgrf2	C	A	13: 92,131,795 (GRCm39)	D20Y	probably damaging	Het
Ryr2	G	A	13: 11,794,152 (GRCm39)	T942I	probably benign	Het
Sbpl	T	C	17: 24,172,328 (GRCm39)	K197R	unknown	Het
Slc44a1	T	A	4: 53,561,069 (GRCm39)	V595E	probably damaging	Het
Slc6a19	A	G	13: 73,832,463 (GRCm39)	M410T	probably damaging	Het
Sntb1	A	T	15: 55,511,351 (GRCm39)	L411H	probably damaging	Het
Synj2	A	G	17: 6,073,940 (GRCm39)	K245E	probably damaging	Het
Tasor2	T	C	13: 3,625,543 (GRCm39)	K1469R	probably benign	Het
Tmem131	G	A	1: 36,864,559 (GRCm39)	T558I	probably damaging	Het
Tnrc18	A	T	5: 142,757,288 (GRCm39)	S1078T	unknown	Het
Trmu	T	A	15: 85,781,302 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,721,430 (GRCm39)		probably benign	Het
Tyw3	T	C	3: 154,293,160 (GRCm39)	T172A	probably benign	Het
Vldlr	T	C	19: 27,217,121 (GRCm39)	I348T	possibly damaging	Het
Zfp114	A	G	7: 23,877,194 (GRCm39)	D12G	probably damaging	Het

Other mutations in Nanos2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02650:Nanos2	APN	7	18,721,794 (GRCm39)	missense	probably damaging	1.00
R1971:Nanos2	UTSW	7	18,721,629 (GRCm39)	missense	probably benign	0.04
R8898:Nanos2	UTSW	7	18,721,549 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTCCACCTTTGCTTAGAATGGTC -3'
(R):5'- ACACATAGTGCCTCAGGATGGGAC -3'

Sequencing Primer
(F):5'- CTCTAGGAGAGTATTTATAAGGGGG -3'
(R):5'- TGTAGACGTGACGAGACTCC -3'

Posted On

2014-03-14