Mutagenetix > Incidental Mutation

Incidental Mutation 'R0601:Nsun2'

239219

Institutional Source

Beutler Lab

Gene Symbol

Nsun2

Ensembl Gene

ENSMUSG00000021595

Gene Name

NOL1/NOP2/Sun domain family member 2

Synonyms

Misu

MMRRC Submission

038790-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R0601 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

69760135-69783899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 69781361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 657 (V657L)

Ref Sequence

ENSEMBL: ENSMUSP00000105321 (fasta)

Gene Model

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

AlphaFold

Q1HFZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000022087
AA Change: V591L

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022087
Gene: ENSMUSG00000021595
AA Change: V591L

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: V657L

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105321
Gene: ENSMUSG00000021595
AA Change: V657L

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 benign
Transcript: ENSMUST00000176485
AA Change: V622L

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135455
Gene: ENSMUSG00000021595
AA Change: V622L

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

0.1622

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.2%

Validation Efficiency

98% (119/122)

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	G	14: 35,532,146 (GRCm39)	D143A	probably damaging	Het
Abca9	C	T	11: 110,007,884 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,223,309 (GRCm39)		probably benign	Het
Ablim3	T	A	18: 61,982,441 (GRCm39)	D168V	probably benign	Het
Acsl3	C	T	1: 78,673,896 (GRCm39)	S352F	probably damaging	Het
Adgrl4	A	T	3: 151,204,066 (GRCm39)		probably benign	Het
Arhgap29	A	G	3: 121,784,759 (GRCm39)	K229E	probably damaging	Het
Atad3a	A	T	4: 155,831,864 (GRCm39)	V470D	probably damaging	Het
Atp8b1	A	G	18: 64,704,724 (GRCm39)		probably null	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Bpifa5	A	G	2: 154,006,175 (GRCm39)	N121S	possibly damaging	Het
Bpifb4	G	A	2: 153,789,203 (GRCm39)		probably benign	Het
Bptf	T	A	11: 106,952,518 (GRCm39)	T2112S	probably benign	Het
Btnl4	T	C	17: 34,688,285 (GRCm39)	K498E	probably benign	Het
Calhm2	A	G	19: 47,129,469 (GRCm39)		probably null	Het
Capn3	A	T	2: 120,333,077 (GRCm39)		probably null	Het
Caps2	T	C	10: 112,031,695 (GRCm39)	F265L	possibly damaging	Het
Casp3	G	T	8: 47,089,262 (GRCm39)	C170F	probably benign	Het
Ccdc39	T	C	3: 33,873,988 (GRCm39)	R615G	probably damaging	Het
Cd177	A	G	7: 24,451,738 (GRCm39)	I426T	probably benign	Het
Cfap53	G	A	18: 74,433,221 (GRCm39)	R102H	possibly damaging	Het
Cfhr3	G	A	1: 139,521,623 (GRCm39)		noncoding transcript	Het
Col7a1	T	C	9: 108,809,652 (GRCm39)		probably benign	Het
Cplx3	T	C	9: 57,513,357 (GRCm39)	E24G	possibly damaging	Het
Dhx30	A	G	9: 109,915,782 (GRCm39)		probably null	Het
Dnah8	T	A	17: 30,927,332 (GRCm39)	N1329K	probably benign	Het
Dnajc11	C	G	4: 152,054,393 (GRCm39)	R200G	probably damaging	Het
Dok3	A	T	13: 55,672,076 (GRCm39)	F201I	probably benign	Het
Dpf2	A	T	19: 5,952,240 (GRCm39)	H303Q	probably damaging	Het
Dtnb	A	G	12: 3,785,039 (GRCm39)		probably benign	Het
Dync2i1	T	C	12: 116,219,555 (GRCm39)	D129G	possibly damaging	Het
Elk3	T	C	10: 93,101,343 (GRCm39)	E136G	probably damaging	Het
Ephb1	T	C	9: 102,072,329 (GRCm39)	D150G	probably damaging	Het
Erbb3	A	G	10: 128,412,881 (GRCm39)	S570P	probably benign	Het
F2	A	T	2: 91,463,656 (GRCm39)		probably null	Het
Fanca	A	T	8: 124,035,252 (GRCm39)	M231K	probably damaging	Het
Fbxo34	T	C	14: 47,767,714 (GRCm39)	V358A	probably benign	Het
Foxp1	C	T	6: 98,907,083 (GRCm39)	E666K	probably damaging	Het
Fto	A	G	8: 92,128,430 (GRCm39)		probably null	Het
Gbp2	C	T	3: 142,336,519 (GRCm39)	R290C	possibly damaging	Het
Gm57859	T	A	11: 113,578,712 (GRCm39)	S36T	probably benign	Het
Grik2	T	G	10: 49,298,693 (GRCm39)	S343R	probably damaging	Het
Heatr5b	A	T	17: 79,075,974 (GRCm39)	M1448K	probably benign	Het
Hmgn3	A	T	9: 83,028,482 (GRCm39)		probably null	Het
Htt	T	C	5: 35,003,347 (GRCm39)	V1274A	probably benign	Het
Kcnh8	A	G	17: 53,201,033 (GRCm39)	D489G	probably damaging	Het
Kcnip3	A	T	2: 127,300,317 (GRCm39)		probably benign	Het
Kdm5a	A	G	6: 120,379,632 (GRCm39)	T647A	possibly damaging	Het
Krt72	T	C	15: 101,694,491 (GRCm39)	R135G	probably damaging	Het
Larp7	T	A	3: 127,337,858 (GRCm39)	K400N	probably damaging	Het
Lifr	T	C	15: 7,198,753 (GRCm39)		probably null	Het
Lima1	G	A	15: 99,678,353 (GRCm39)	P696L	probably damaging	Het
Lrrc8e	T	G	8: 4,285,239 (GRCm39)		probably null	Het
Map1a	A	G	2: 121,129,083 (GRCm39)	R116G	probably damaging	Het
Map3k13	A	G	16: 21,723,999 (GRCm39)	E327G	possibly damaging	Het
Med13	A	G	11: 86,236,788 (GRCm39)	V123A	possibly damaging	Het
Megf8	A	C	7: 25,027,965 (GRCm39)	H205P	probably benign	Het
Met	G	A	6: 17,555,631 (GRCm39)		probably null	Het
Mfsd14b	A	C	13: 65,234,964 (GRCm39)	V71G	possibly damaging	Het
Mpl	T	A	4: 118,300,733 (GRCm39)	T599S	probably benign	Het
Myh15	A	T	16: 48,881,944 (GRCm39)	D62V	probably damaging	Het
Myo5a	A	G	9: 75,081,297 (GRCm39)	T961A	probably benign	Het
Myrfl	A	G	10: 116,612,665 (GRCm39)	Y895H	probably damaging	Het
Nap1l1	T	C	10: 111,326,224 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 26,952,803 (GRCm39)	Y111N	probably benign	Het
Nlrc3	A	G	16: 3,766,113 (GRCm39)		probably benign	Het
Or10g1b	C	A	14: 52,627,283 (GRCm39)	G316*	probably null	Het
Or4a74	T	A	2: 89,439,564 (GRCm39)	N294I	probably benign	Het
Or4b13	T	C	2: 90,083,278 (GRCm39)	D18G	probably benign	Het
Or52d1	A	T	7: 103,756,349 (GRCm39)	I288F	possibly damaging	Het
Or52e19	T	C	7: 102,959,371 (GRCm39)	S148P	probably damaging	Het
Or5k3	G	A	16: 58,970,117 (GRCm39)	M301I	probably benign	Het
Or5m13b	A	T	2: 85,753,722 (GRCm39)	I37F	probably benign	Het
Or6c68	T	A	10: 129,157,885 (GRCm39)	M131K	possibly damaging	Het
Osbpl3	A	T	6: 50,276,383 (GRCm39)	V795D	probably benign	Het
Osbpl5	T	C	7: 143,263,286 (GRCm39)	D155G	probably damaging	Het
Parm1	G	A	5: 91,742,123 (GRCm39)	V164I	probably benign	Het
Pgd	A	T	4: 149,241,267 (GRCm39)		probably benign	Het
Pkp1	G	A	1: 135,805,920 (GRCm39)	R593W	probably damaging	Het
Polr2l	A	T	7: 141,053,255 (GRCm39)	V53E	probably damaging	Het
Ppp4c	G	T	7: 126,386,460 (GRCm39)	T29K	probably benign	Het
Ppp4r4	T	A	12: 103,566,779 (GRCm39)		probably benign	Het
Ptprd	A	G	4: 76,018,711 (GRCm39)	S688P	probably benign	Het
Rab3b	A	T	4: 108,747,586 (GRCm39)	I28F	probably damaging	Het
Rnase4	T	C	14: 51,342,552 (GRCm39)	L92P	probably benign	Het
Rnpc3	T	C	3: 113,413,755 (GRCm39)	E229G	probably benign	Het
Rtraf	A	T	14: 19,866,274 (GRCm39)	D147E	possibly damaging	Het
Rttn	G	A	18: 89,061,090 (GRCm39)	G1086D	probably benign	Het
Ryr2	A	G	13: 11,720,519 (GRCm39)		probably null	Het
Sft2d2	T	C	1: 165,011,430 (GRCm39)	I126V	probably benign	Het
Skap1	G	T	11: 96,614,236 (GRCm39)		probably benign	Het
Slc14a2	A	T	18: 78,200,394 (GRCm39)	L753*	probably null	Het
Slc25a5	G	A	X: 36,059,408 (GRCm39)	A9T	probably benign	Het
Slc30a5	T	C	13: 100,951,278 (GRCm39)		probably benign	Het
Slc5a4b	A	C	10: 75,899,870 (GRCm39)	I456S	possibly damaging	Het
Slc9a4	A	T	1: 40,642,230 (GRCm39)	S400C	probably damaging	Het
Slx1b	T	A	7: 126,291,812 (GRCm39)	H84L	probably damaging	Het
Sptbn1	T	C	11: 30,100,008 (GRCm39)	Y190C	probably damaging	Het
Stk32b	T	C	5: 37,688,910 (GRCm39)	Q138R	probably damaging	Het
Syt6	C	A	3: 103,528,206 (GRCm39)	D308E	probably damaging	Het
Sytl2	G	A	7: 90,044,374 (GRCm39)	D572N	probably damaging	Het
Taok2	A	T	7: 126,478,605 (GRCm39)	L109Q	probably damaging	Het
Tbl1xr1	T	C	3: 22,233,483 (GRCm39)		probably benign	Het
Tlk1	A	G	2: 70,544,502 (GRCm39)	I711T	probably benign	Het
Trf	A	G	9: 103,100,132 (GRCm39)		probably null	Het
Trpc2	A	G	7: 101,733,572 (GRCm39)	T548A	possibly damaging	Het
Ttbk2	A	T	2: 120,655,777 (GRCm39)	I29N	possibly damaging	Het
Tti1	A	T	2: 157,835,292 (GRCm39)	C989S	probably damaging	Het
Txndc8	A	G	4: 58,000,256 (GRCm39)	Y108H	probably benign	Het
Ugt2b1	A	T	5: 87,065,539 (GRCm39)	V500D	possibly damaging	Het
Vmn1r34	A	G	6: 66,614,648 (GRCm39)	I30T	possibly damaging	Het
Vmn2r115	A	G	17: 23,579,074 (GRCm39)	K849R	probably null	Het
Vmn2r76	T	A	7: 85,875,323 (GRCm39)		probably null	Het
Vps13c	T	A	9: 67,834,754 (GRCm39)	S1694R	probably benign	Het
Wdfy3	G	T	5: 101,984,038 (GRCm39)	P3509T	probably benign	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Wnt8b	T	A	19: 44,482,106 (GRCm39)	W40R	probably benign	Het
Xrra1	A	G	7: 99,560,175 (GRCm39)	I384V	possibly damaging	Het
Zfp11	A	T	5: 129,734,971 (GRCm39)	H163Q	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
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
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'- CTTCATGCTTCTTCCCCAGAGAGTG -3'
(R):5'- TCTGCTGCTGAGAACTTCCCAAAG -3'

Sequencing Primer
(F):5'- ccctccctccctccttc -3'
(R):5'- TGCTGAGAACTTCCCAAAGAAGAG -3'

Posted On

2014-10-09