Mutagenetix > Incidental Mutation

Incidental Mutation 'R0648:Nsun2'

57370

Institutional Source

Beutler Lab

Gene Symbol

Nsun2

Ensembl Gene

ENSMUSG00000021595

Gene Name

NOL1/NOP2/Sun domain family member 2

Synonyms

Misu

MMRRC Submission

038833-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R0648 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

69760135-69783899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69775706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 383 (N383K)

Ref Sequence

ENSEMBL: ENSMUSP00000135455 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022087] [ENSMUST00000109699] [ENSMUST00000176485]

AlphaFold

Q1HFZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000022087
AA Change: N352K

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022087
Gene: ENSMUSG00000021595
AA Change: N352K

Domain	Start	End	E-Value	Type
Pfam:Nol1_Nop2_Fmu	83	209	4.5e-19	PFAM
Pfam:Nol1_Nop2_Fmu	199	376	1.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109699
AA Change: N418K

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105321
Gene: ENSMUSG00000021595
AA Change: N418K

Domain	Start	End	E-Value	Type
Pfam:Nol1_Nop2_Fmu	169	428	3.2e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136932

Predicted Effect

probably damaging
Transcript: ENSMUST00000176485
AA Change: N383K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135455
Gene: ENSMUSG00000021595
AA Change: N383K

Domain	Start	End	E-Value	Type
Pfam:Nol1_Nop2_Fmu	114	240	3.5e-19	PFAM
Pfam:Nol1_Nop2_Fmu	230	399	1.1e-23	PFAM

Meta Mutation Damage Score

0.1558

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous inactivation of this gene leads to decreased body size, male sterility, and hair cycle anomalies. Additional phenotypes may include reduced body fat, skeletal, craniofacial and eye defects, abnormal erythropoiesis, and altered energy expenditure and gas, glucose, and lipid homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,184,632 (GRCm39)	V1009A	possibly damaging	Het
Acta2	T	C	19: 34,225,934 (GRCm39)	I87V	probably benign	Het
Arid1a	A	G	4: 133,412,515 (GRCm39)	Y1560H	unknown	Het
Bcor	C	T	X: 11,925,290 (GRCm39)	R102Q	probably damaging	Het
Camsap2	A	T	1: 136,232,057 (GRCm39)	D179E	probably damaging	Het
Ccdc168	A	G	1: 44,095,723 (GRCm39)	S1792P	possibly damaging	Het
Ccdc18	T	A	5: 108,283,426 (GRCm39)	S46T	probably damaging	Het
Ccdc18	A	C	5: 108,322,853 (GRCm39)	Q651P	probably damaging	Het
Cdc73	T	C	1: 143,571,200 (GRCm39)	T80A	probably benign	Het
Cdh20	T	A	1: 109,993,337 (GRCm39)		probably benign	Het
Cenpe	G	A	3: 134,935,843 (GRCm39)	G426D	probably damaging	Het
Cenpt	A	G	8: 106,571,592 (GRCm39)	V487A	probably damaging	Het
Clec2m	A	G	6: 129,307,932 (GRCm39)	F46L	probably benign	Het
Col4a1	G	A	8: 11,296,892 (GRCm39)	P84S	unknown	Het
Dennd2d	A	G	3: 106,407,871 (GRCm39)	I450M	probably damaging	Het
Dhps	C	A	8: 85,799,911 (GRCm39)		probably null	Het
Ebf1	A	T	11: 44,882,337 (GRCm39)	H431L	probably damaging	Het
Efcab6	A	G	15: 83,817,265 (GRCm39)		probably benign	Het
Egflam	T	C	15: 7,237,190 (GRCm39)	H990R	probably damaging	Het
Ercc6l2	A	G	13: 63,992,459 (GRCm39)	T303A	probably benign	Het
Fam167b	T	C	4: 129,472,150 (GRCm39)	K7E	probably benign	Het
Fgd3	T	C	13: 49,450,049 (GRCm39)	I67V	probably benign	Het
Fhip1a	A	C	3: 85,637,921 (GRCm39)	V126G	probably damaging	Het
Fn1	A	T	1: 71,636,744 (GRCm39)	V2045D	possibly damaging	Het
Gnl1	A	G	17: 36,293,490 (GRCm39)	N225S	probably damaging	Het
Gpx6	A	T	13: 21,503,047 (GRCm39)	N154Y	probably benign	Het
H2bc21	A	G	3: 96,128,851 (GRCm39)	S124G	probably benign	Het
Haus8	C	A	8: 71,709,174 (GRCm39)	G79V	probably damaging	Het
Hdgfl1	A	T	13: 26,953,836 (GRCm39)	L79Q	probably damaging	Het
Impdh2	T	C	9: 108,440,665 (GRCm39)	Y83H	probably benign	Het
Lama2	T	C	10: 26,865,372 (GRCm39)	T2929A	probably benign	Het
Lpin2	T	C	17: 71,536,307 (GRCm39)	S199P	probably benign	Het
Moap1	T	C	12: 102,708,776 (GRCm39)	T258A	probably benign	Het
Mrps35	C	A	6: 146,957,443 (GRCm39)	S156*	probably null	Het
Mrtfa	A	G	15: 80,901,121 (GRCm39)	S457P	probably damaging	Het
Mtbp	C	T	15: 55,466,597 (GRCm39)	P537S	probably benign	Het
Ncstn	C	A	1: 171,895,454 (GRCm39)	V565F	probably benign	Het
Nhsl1	A	G	10: 18,407,474 (GRCm39)	N1536S	possibly damaging	Het
Nkain4	T	C	2: 180,584,905 (GRCm39)	Q103R	possibly damaging	Het
Or13p4	C	T	4: 118,547,269 (GRCm39)	V127I	probably benign	Het
Or6c33	A	G	10: 129,853,350 (GRCm39)	N40S	probably damaging	Het
Parp1	C	T	1: 180,428,005 (GRCm39)		probably benign	Het
Pkd1	G	A	17: 24,813,911 (GRCm39)	R4125H	probably damaging	Het
Plxnd1	T	C	6: 115,970,962 (GRCm39)	I269V	possibly damaging	Het
Polr1f	C	T	12: 33,487,999 (GRCm39)	Q305*	probably null	Het
Ppp1r36dn	A	G	12: 76,498,070 (GRCm39)		noncoding transcript	Het
Qrich1	T	A	9: 108,422,076 (GRCm39)	N563K	probably damaging	Het
Rab3il1	TGAAG	TGAAGAAG	19: 10,004,752 (GRCm39)		probably benign	Het
Rell1	G	A	5: 64,082,088 (GRCm39)	T271M	probably benign	Het
Rgl1	A	G	1: 152,412,016 (GRCm39)		probably null	Het
Rph3a	C	T	5: 121,097,333 (GRCm39)	R261H	possibly damaging	Het
Ryr2	A	T	13: 11,739,219 (GRCm39)	M2161K	possibly damaging	Het
Scaf11	T	C	15: 96,316,339 (GRCm39)	N1075S	possibly damaging	Het
Serpina3j	A	G	12: 104,280,938 (GRCm39)	D37G	probably benign	Het
Siah2	A	G	3: 58,583,635 (GRCm39)	V217A	probably damaging	Het
Sik2	T	C	9: 50,810,045 (GRCm39)	D506G	probably benign	Het
Skap2	A	C	6: 51,856,765 (GRCm39)	V279G	probably benign	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Slc9a7	A	T	X: 20,028,659 (GRCm39)		probably benign	Het
Snai3	G	T	8: 123,181,733 (GRCm39)	F241L	probably damaging	Het
Speg	T	C	1: 75,404,622 (GRCm39)	S2805P	probably benign	Het
Spink5	A	T	18: 44,132,864 (GRCm39)		probably benign	Het
Tctn1	C	T	5: 122,389,761 (GRCm39)	E254K	probably benign	Het
Tdrd3	C	T	14: 87,709,618 (GRCm39)	T100M	probably damaging	Het
Tex47	T	C	5: 7,355,215 (GRCm39)	V132A	probably benign	Het
Thbs3	A	G	3: 89,123,972 (GRCm39)		probably null	Het
Tigit	T	A	16: 43,482,401 (GRCm39)	Y111F	probably damaging	Het
Tmem245	A	G	4: 56,906,270 (GRCm39)	I148T	probably benign	Het
Tmem97	A	G	11: 78,441,365 (GRCm39)	Y39H	probably benign	Het
Tnks2	T	A	19: 36,839,474 (GRCm39)		probably null	Het
Trp53bp1	A	G	2: 121,066,188 (GRCm39)	V846A	probably benign	Het
Tulp2	T	G	7: 45,169,210 (GRCm39)	I259S	probably damaging	Het
Ubxn1	G	A	19: 8,851,612 (GRCm39)	R215H	probably damaging	Het
Vmn1r17	A	G	6: 57,337,460 (GRCm39)	F253L	probably damaging	Het
Vmn2r10	T	C	5: 109,143,782 (GRCm39)	M723V	probably benign	Het
Xndc1	T	C	7: 101,728,031 (GRCm39)	V14A	possibly damaging	Het
Xpnpep1	A	G	19: 52,986,294 (GRCm39)		probably benign	Het
Yes1	T	A	5: 32,812,862 (GRCm39)	M322K	possibly damaging	Het
Zdhhc14	C	A	17: 5,543,877 (GRCm39)	N52K	probably benign	Het
Zfp42	A	G	8: 43,749,015 (GRCm39)	V162A	probably benign	Het

Other mutations in Nsun2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01660:Nsun2	APN	13	69,771,368 (GRCm39)	missense	probably benign	0.01
IGL01997:Nsun2	APN	13	69,771,365 (GRCm39)	missense	probably damaging	1.00
IGL02253:Nsun2	APN	13	69,767,658 (GRCm39)	missense	possibly damaging	0.88
IGL03038:Nsun2	APN	13	69,767,703 (GRCm39)	missense	probably damaging	1.00
IGL02984:Nsun2	UTSW	13	69,691,727 (GRCm39)	intron	probably benign
PIT4494001:Nsun2	UTSW	13	69,766,311 (GRCm39)	critical splice donor site	probably null
R0601:Nsun2	UTSW	13	69,781,361 (GRCm39)	missense	probably benign	0.40
R0690:Nsun2	UTSW	13	69,777,661 (GRCm39)	missense	probably benign
R0718:Nsun2	UTSW	13	69,691,816 (GRCm39)	intron	probably benign
R1501:Nsun2	UTSW	13	69,779,706 (GRCm39)	missense	probably damaging	1.00
R1638:Nsun2	UTSW	13	69,775,705 (GRCm39)	missense	probably damaging	1.00
R1678:Nsun2	UTSW	13	69,775,222 (GRCm39)	missense	probably damaging	1.00
R1687:Nsun2	UTSW	13	69,775,716 (GRCm39)	missense	probably damaging	1.00
R2327:Nsun2	UTSW	13	69,767,700 (GRCm39)	missense	probably benign	0.44
R2872:Nsun2	UTSW	13	69,777,801 (GRCm39)	missense	probably damaging	1.00
R2872:Nsun2	UTSW	13	69,777,801 (GRCm39)	missense	probably damaging	1.00
R3689:Nsun2	UTSW	13	69,760,456 (GRCm39)	missense	probably damaging	1.00
R3691:Nsun2	UTSW	13	69,760,456 (GRCm39)	missense	probably damaging	1.00
R3739:Nsun2	UTSW	13	69,777,757 (GRCm39)	missense	probably benign
R3918:Nsun2	UTSW	13	69,778,799 (GRCm39)	missense	probably damaging	1.00
R4065:Nsun2	UTSW	13	69,760,579 (GRCm39)	critical splice donor site	probably null
R4231:Nsun2	UTSW	13	69,767,660 (GRCm39)	missense	probably damaging	1.00
R4445:Nsun2	UTSW	13	69,777,840 (GRCm39)	splice site	probably null
R4872:Nsun2	UTSW	13	69,691,992 (GRCm39)	intron	probably benign
R5641:Nsun2	UTSW	13	69,771,368 (GRCm39)	missense	probably benign	0.01
R5718:Nsun2	UTSW	13	69,771,403 (GRCm39)	missense	probably benign	0.19
R5976:Nsun2	UTSW	13	69,771,271 (GRCm39)	splice site	probably null
R6110:Nsun2	UTSW	13	69,775,767 (GRCm39)	missense	probably benign	0.01
R6943:Nsun2	UTSW	13	69,778,152 (GRCm39)	missense	probably damaging	1.00
R6968:Nsun2	UTSW	13	69,779,409 (GRCm39)	missense	probably benign	0.00
R7146:Nsun2	UTSW	13	69,774,672 (GRCm39)	critical splice donor site	probably null
R7456:Nsun2	UTSW	13	69,781,725 (GRCm39)	missense	probably damaging	0.98
R8017:Nsun2	UTSW	13	69,775,764 (GRCm39)	missense	probably damaging	0.99
R8019:Nsun2	UTSW	13	69,775,764 (GRCm39)	missense	probably damaging	0.99
R8225:Nsun2	UTSW	13	69,760,493 (GRCm39)	missense	possibly damaging	0.93
R8935:Nsun2	UTSW	13	69,767,586 (GRCm39)	missense	probably damaging	1.00
X0064:Nsun2	UTSW	13	69,763,638 (GRCm39)	critical splice donor site	probably null
Z1088:Nsun2	UTSW	13	69,763,584 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCCATAAATGCCTGTAGTGTGCC -3'
(R):5'- GCTCAAGAGCTTCGTAACACCCTC -3'

Sequencing Primer
(F):5'- CTGTAGTGTGCCTTGATGATCAC -3'
(R):5'- CAGCTCTCAAAACCTTCACTTGG -3'

Posted On

2013-07-11