Mutagenetix > Incidental Mutation

Incidental Mutation 'R7456:Nsun2'

578155

Institutional Source

Beutler Lab

Gene Symbol

Nsun2

Ensembl Gene

ENSMUSG00000021595

Gene Name

NOL1/NOP2/Sun domain family member 2

Synonyms

Misu

MMRRC Submission

045530-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R7456 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69760135-69783899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69781725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 677 (C677S)

Ref Sequence

ENSEMBL: ENSMUSP00000105321 (fasta)

Gene Model

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

AlphaFold

Q1HFZ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022087
AA Change: C611S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022087
Gene: ENSMUSG00000021595
AA Change: C611S

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 damaging
Transcript: ENSMUST00000109699
AA Change: C677S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105321
Gene: ENSMUSG00000021595
AA Change: C677S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176485
AA Change: C642S

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135455
Gene: ENSMUSG00000021595
AA Change: C642S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	A	G	4: 86,792,748 (GRCm39)	D8G	possibly damaging	Het
Angpt4	T	C	2: 151,780,987 (GRCm39)	Y412H	probably damaging	Het
Ankef1	A	G	2: 136,387,734 (GRCm39)	D217G	probably benign	Het
Ano2	A	T	6: 125,940,508 (GRCm39)	I544F	probably benign	Het
App	G	A	16: 84,970,448 (GRCm39)			Het
Arhgef26	A	G	3: 62,247,476 (GRCm39)	T187A	probably benign	Het
Axin1	T	A	17: 26,362,139 (GRCm39)	V161E	probably damaging	Het
Bbs7	A	T	3: 36,648,527 (GRCm39)	V407D	probably damaging	Het
C1qtnf3	A	T	15: 10,972,137 (GRCm39)	E141V	probably benign	Het
C2	A	G	17: 35,083,558 (GRCm39)	I469T	probably damaging	Het
Cc2d1a	A	G	8: 84,866,868 (GRCm39)		probably null	Het
Cd226	A	T	18: 89,224,747 (GRCm39)	I10F	probably damaging	Het
Cep295nl	T	C	11: 118,224,376 (GRCm39)	K156R	possibly damaging	Het
Cfap20dc	A	T	14: 8,442,933 (GRCm38)	L612*	probably null	Het
Cfap44	A	G	16: 44,252,305 (GRCm39)	T805A	probably benign	Het
Chd9	G	T	8: 91,659,153 (GRCm39)	E38*	probably null	Het
Cldnd2	C	T	7: 43,091,109 (GRCm39)	L14F	not run	Het
Cyp11b2	T	C	15: 74,725,379 (GRCm39)	T247A	probably benign	Het
Dennd11	T	G	6: 40,383,774 (GRCm39)	M423L	probably benign	Het
Dsc1	T	C	18: 20,219,879 (GRCm39)	S764G	probably benign	Het
Dsg3	A	T	18: 20,664,420 (GRCm39)	T473S	probably benign	Het
Fam193a	A	T	5: 34,578,132 (GRCm39)	I209F	possibly damaging	Het
Foxs1	T	C	2: 152,775,045 (GRCm39)	K3E	probably benign	Het
Gabrr3	C	T	16: 59,227,853 (GRCm39)	Q37*	probably null	Het
Gcm2	A	T	13: 41,256,751 (GRCm39)	W333R	probably benign	Het
Gcn1	C	T	5: 115,743,005 (GRCm39)	Q1559*	probably null	Het
Gfm2	A	T	13: 97,282,211 (GRCm39)	K69*	probably null	Het
Gm14295	T	G	2: 176,500,943 (GRCm39)	C144W	possibly damaging	Het
Gm32742	G	A	9: 51,071,270 (GRCm39)	T5I	probably damaging	Het
Gm5093	T	C	17: 46,750,679 (GRCm39)	D116G	probably damaging	Het
Gsn	A	T	2: 35,172,718 (GRCm39)	K3N	possibly damaging	Het
H2-M2	C	T	17: 37,792,552 (GRCm39)	D240N	possibly damaging	Het
Habp2	G	C	19: 56,307,957 (GRCm39)	G482R	probably damaging	Het
Hnrnpm	A	T	17: 33,865,622 (GRCm39)	Y680N	possibly damaging	Het
Hrc	T	A	7: 44,986,320 (GRCm39)	D490E	possibly damaging	Het
Impg2	A	G	16: 56,080,276 (GRCm39)	I693M	probably benign	Het
Itga7	A	G	10: 128,777,805 (GRCm39)	Y262C	probably damaging	Het
Kif1c	A	G	11: 70,619,424 (GRCm39)	T1020A	probably benign	Het
Kif23	T	C	9: 61,844,402 (GRCm39)	I139V	probably benign	Het
Klk1b5	A	G	7: 43,500,255 (GRCm39)	E281G	probably benign	Het
Kpna4	A	G	3: 69,000,181 (GRCm39)	V275A	probably damaging	Het
Lamb2	C	A	9: 108,362,979 (GRCm39)	D787E	possibly damaging	Het
Ldlrad3	A	C	2: 101,785,270 (GRCm39)	V235G	probably damaging	Het
Maneal	A	G	4: 124,750,767 (GRCm39)	S330P	probably damaging	Het
Maz	G	A	7: 126,625,489 (GRCm39)	Q35*	probably null	Het
Mthfd1l	C	T	10: 4,039,998 (GRCm39)	T803M	probably damaging	Het
Muc5ac	A	G	7: 141,346,904 (GRCm39)	Q325R	probably benign	Het
Myo3a	C	A	2: 22,412,255 (GRCm39)	A758E	probably benign	Het
Ndufb7	A	G	8: 84,293,482 (GRCm39)	D12G	probably benign	Het
Obscn	A	G	11: 58,899,384 (GRCm39)	F6471S	probably benign	Het
Or4c106	A	T	2: 88,682,563 (GRCm39)	I90F	probably damaging	Het
Or51k1	A	G	7: 103,661,045 (GRCm39)	V288A	possibly damaging	Het
Or7g32	T	C	9: 19,408,844 (GRCm39)	S267P	probably damaging	Het
Otof	T	C	5: 30,552,005 (GRCm39)	D313G	probably damaging	Het
Paqr5	T	C	9: 61,880,072 (GRCm39)	D74G	probably benign	Het
Pigq	A	G	17: 26,153,580 (GRCm39)	V365A	unknown	Het
Podn	A	T	4: 107,875,002 (GRCm39)	N588K	probably benign	Het
Polr3b	G	A	10: 84,458,355 (GRCm39)	G9R	probably benign	Het
Proser1	A	G	3: 53,385,939 (GRCm39)	H607R	probably damaging	Het
Ryr2	C	T	13: 11,767,168 (GRCm39)	V1241I	probably benign	Het
Sar1b	G	A	11: 51,682,181 (GRCm39)	A170T	probably benign	Het
Slc22a17	T	C	14: 55,149,716 (GRCm39)	T191A	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,779 (GRCm39)		unknown	Het
Slco6d1	A	T	1: 98,349,082 (GRCm39)	D51V	possibly damaging	Het
Snx16	G	A	3: 10,500,541 (GRCm39)	R143*	probably null	Het
Sytl2	T	A	7: 89,998,055 (GRCm39)	L19Q	probably damaging	Het
Tmcc3	A	G	10: 94,418,174 (GRCm39)	E345G	possibly damaging	Het
Ttn	C	T	2: 76,555,998 (GRCm39)	A30336T	probably damaging	Het
Vmn1r44	A	G	6: 89,870,401 (GRCm39)	D49G	probably benign	Het
Vps35l	C	T	7: 118,403,340 (GRCm39)	P628S	probably benign	Het
Vps41	T	A	13: 19,048,204 (GRCm39)	D801E	probably benign	Het
Wif1	G	A	10: 120,932,554 (GRCm39)	E311K	probably benign	Het
Zfp513	G	T	5: 31,357,759 (GRCm39)	R207S	possibly damaging	Het
Zfp52	C	A	17: 21,781,615 (GRCm39)	H488N	probably damaging	Het
Zfp738	A	G	13: 67,817,619 (GRCm39)	Y791H	probably damaging	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
R0648:Nsun2	UTSW	13	69,775,706 (GRCm39)	missense	probably damaging	1.00
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
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'- CCGCAACACTTACTTGAAGG -3'
(R):5'- TTGGCATCCTCATCTCCAGG -3'

Sequencing Primer
(F):5'- CTTTGGGAAGTTCTCAGCAGCAG -3'
(R):5'- CATCTCCAGGCTGCTCTG -3'

Posted On

2019-10-07