Mutagenetix > Incidental Mutations

Incidental Mutation 'R4231:Nsun2'

320871

Institutional Source

Beutler Lab

Gene Symbol

Nsun2

Ensembl Gene

ENSMUSG00000021595

Gene Name

NOL1/NOP2/Sun domain family member 2

Synonyms

Misu

MMRRC Submission

041050-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R4231 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69533746-69635780 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69619541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 205 (N205D)

Ref Sequence

ENSEMBL: ENSMUSP00000135455 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022087] [ENSMUST00000109699] [ENSMUST00000143716] [ENSMUST00000176485]

AlphaFold

Q1HFZ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022087
AA Change: N174D

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022087
Gene: ENSMUSG00000021595
AA Change: N174D

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

possibly damaging
Transcript: ENSMUST00000109699
AA Change: N240D

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105321
Gene: ENSMUSG00000021595
AA Change: N240D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136932

Predicted Effect

probably benign
Transcript: ENSMUST00000143716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168625

Predicted Effect

probably damaging
Transcript: ENSMUST00000176485
AA Change: N205D

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

SMART Domains

Protein: ENSMUSP00000135455
Gene: ENSMUSG00000021595
AA Change: N205D

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

0.9436

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
4932438A13Rik	C	T	3: 36,920,236	T663I	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	A	T	12: 53,141,038	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 24,911,653	G494R	probably damaging	Het
Ankar	T	C	1: 72,658,542	D1034G	probably benign	Het
Aox3	T	A	1: 58,114,885	N23K	probably benign	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Cacnb2	A	G	2: 14,981,440	K343E	probably damaging	Het
Casp8	T	C	1: 58,844,770	V432A	probably damaging	Het
Cd93	A	T	2: 148,442,960	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,752,835	M1V	probably null	Het
Crat	T	C	2: 30,413,011	E88G	possibly damaging	Het
Ddx1	C	T	12: 13,223,857	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,319,470	P94S	probably damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Fam196b	A	T	11: 34,403,143	E395V	probably benign	Het
Filip1l	T	C	16: 57,506,768	S54P	probably benign	Het
Gm12887	A	T	4: 121,622,102	M1K	probably null	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Irak2	A	G	6: 113,690,856	E466G	probably damaging	Het
Irgm2	C	T	11: 58,219,478		probably benign	Het
Jak3	T	A	8: 71,685,545	V880D	probably damaging	Het
Jmy	G	T	13: 93,498,925	P128T	probably benign	Het
Kif20a	A	G	18: 34,632,038	N775S	probably benign	Het
Kremen1	G	A	11: 5,243,881	Q50*	probably null	Het
Lrrc71	A	G	3: 87,740,991	I438T	probably benign	Het
Map3k1	T	C	13: 111,768,494	T374A	probably benign	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mta1	T	C	12: 113,135,827	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,189,997	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,599,913	Q13L	probably benign	Het
Nbas	A	G	12: 13,393,343	N1133S	probably damaging	Het
Nxpe4	A	T	9: 48,398,837	T467S	probably damaging	Het
Olfr1293-ps	C	T	2: 111,528,201	R314C	probably damaging	Het
Olfr53	T	C	7: 140,652,740	Y254H	probably damaging	Het
Olfr849	T	A	9: 19,441,590	L226I	probably damaging	Het
Pam	A	G	1: 97,884,124		probably null	Het
Pcdh7	G	A	5: 57,719,289	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,644,454	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,108,621	S71P	probably benign	Het
Ptprq	A	T	10: 107,686,283	Y602*	probably null	Het
Rfx4	A	T	10: 84,814,694	M84L	probably benign	Het
Rfx7	A	T	9: 72,619,390	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf216	A	T	5: 143,093,090	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,808,900	V402A	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sart3	A	G	5: 113,771,418	M73T	probably benign	Het
Scn10a	G	T	9: 119,631,544	T1088K	probably damaging	Het
Senp2	T	C	16: 22,011,554		probably null	Het
Setd7	T	C	3: 51,542,730	N92D	probably benign	Het
Sipa1	A	T	19: 5,654,089	L735Q	probably damaging	Het
Skint11	C	A	4: 114,244,659	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,751,388	S296T	probably benign	Het
Spc24	T	C	9: 21,756,202		probably null	Het
Tex15	T	C	8: 33,572,137	S806P	probably damaging	Het
Tgm3	A	T	2: 130,044,589	K577*	probably null	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Xpo6	T	C	7: 126,174,182	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,073,534	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,249,745	K375*	probably null	Het

Other mutations in Nsun2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01660:Nsun2	APN	13	69623249	missense	probably benign	0.01
IGL01997:Nsun2	APN	13	69623246	missense	probably damaging	1.00
IGL02253:Nsun2	APN	13	69619539	missense	possibly damaging	0.88
IGL03038:Nsun2	APN	13	69619584	missense	probably damaging	1.00
IGL02984:Nsun2	UTSW	13	69543608	intron	probably benign
PIT4494001:Nsun2	UTSW	13	69618192	critical splice donor site	probably null
R0601:Nsun2	UTSW	13	69633242	missense	probably benign	0.40
R0648:Nsun2	UTSW	13	69627587	missense	probably damaging	1.00
R0690:Nsun2	UTSW	13	69629542	missense	probably benign
R0718:Nsun2	UTSW	13	69543697	intron	probably benign
R1501:Nsun2	UTSW	13	69631587	missense	probably damaging	1.00
R1638:Nsun2	UTSW	13	69627586	missense	probably damaging	1.00
R1678:Nsun2	UTSW	13	69627103	missense	probably damaging	1.00
R1687:Nsun2	UTSW	13	69627597	missense	probably damaging	1.00
R2327:Nsun2	UTSW	13	69619581	missense	probably benign	0.44
R2872:Nsun2	UTSW	13	69629682	missense	probably damaging	1.00
R2872:Nsun2	UTSW	13	69629682	missense	probably damaging	1.00
R3689:Nsun2	UTSW	13	69612337	missense	probably damaging	1.00
R3691:Nsun2	UTSW	13	69612337	missense	probably damaging	1.00
R3739:Nsun2	UTSW	13	69629638	missense	probably benign
R3918:Nsun2	UTSW	13	69630680	missense	probably damaging	1.00
R4065:Nsun2	UTSW	13	69612460	critical splice donor site	probably null
R4445:Nsun2	UTSW	13	69629721	splice site	probably null
R4872:Nsun2	UTSW	13	69543873	intron	probably benign
R5641:Nsun2	UTSW	13	69623249	missense	probably benign	0.01
R5718:Nsun2	UTSW	13	69623284	missense	probably benign	0.19
R5976:Nsun2	UTSW	13	69623152	splice site	probably null
R6110:Nsun2	UTSW	13	69627648	missense	probably benign	0.01
R6943:Nsun2	UTSW	13	69630033	missense	probably damaging	1.00
R6968:Nsun2	UTSW	13	69631290	missense	probably benign	0.00
R7146:Nsun2	UTSW	13	69626553	critical splice donor site	probably null
R7456:Nsun2	UTSW	13	69633606	missense	probably damaging	0.98
R8017:Nsun2	UTSW	13	69627645	missense	probably damaging	0.99
R8019:Nsun2	UTSW	13	69627645	missense	probably damaging	0.99
R8225:Nsun2	UTSW	13	69612374	missense	possibly damaging	0.93
R8935:Nsun2	UTSW	13	69619467	missense	probably damaging	1.00
X0064:Nsun2	UTSW	13	69615519	critical splice donor site	probably null
Z1088:Nsun2	UTSW	13	69615465	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACGTCTTGCAGAGCTTTCC -3'
(R):5'- TAACCATGTGCACCATTGTGG -3'

Sequencing Primer
(F):5'- GCAGAGCTTTCCTCCTCAC -3'
(R):5'- TGGTCATGTGGTACTTCATTTAATC -3'

Posted On

2015-06-12