Mutagenetix > Incidental Mutation

Incidental Mutation 'R1501:Nsun2'

169295

Institutional Source

Beutler Lab

Gene Symbol

Nsun2

Ensembl Gene

ENSMUSG00000021595

Gene Name

NOL1/NOP2/Sun domain family member 2

Synonyms

Misu

MMRRC Submission

040867-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R1501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69760135-69783899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69779706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 624 (E624G)

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: E558G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022087
Gene: ENSMUSG00000021595
AA Change: E558G

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: E624G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105321
Gene: ENSMUSG00000021595
AA Change: E624G

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: E589G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135455
Gene: ENSMUSG00000021595
AA Change: E589G

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: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,750,787 (GRCm39)	S533R	probably benign	Het
Amph	C	T	13: 19,288,461 (GRCm39)	Q317*	probably null	Het
Bach2	A	G	4: 32,562,279 (GRCm39)	T249A	possibly damaging	Het
Cacna2d3	A	G	14: 28,703,137 (GRCm39)	C845R	probably damaging	Het
Calml4	A	G	9: 62,778,622 (GRCm39)	K12E	probably benign	Het
Chrd	C	T	16: 20,556,283 (GRCm39)	R615W	probably damaging	Het
Chst15	T	A	7: 131,870,798 (GRCm39)	K246*	probably null	Het
Cmtr2	G	A	8: 110,948,235 (GRCm39)	D182N	probably benign	Het
Cyp2d9	C	A	15: 82,338,525 (GRCm39)	C186*	probably null	Het
Cyp3a13	G	T	5: 137,909,892 (GRCm39)		probably null	Het
Dcaf17	A	T	2: 70,912,332 (GRCm39)	I320F	probably damaging	Het
Ddx10	T	C	9: 53,145,297 (GRCm39)	I227V	possibly damaging	Het
Dlc1	G	T	8: 37,405,302 (GRCm39)	N162K	probably benign	Het
Dnhd1	G	A	7: 105,317,670 (GRCm39)	R455H	probably benign	Het
Drg2	G	T	11: 60,355,679 (GRCm39)	A306S	probably benign	Het
Dsg1a	A	T	18: 20,465,076 (GRCm39)	R422S	probably damaging	Het
Ehbp1l1	A	G	19: 5,766,452 (GRCm39)	V353A	probably damaging	Het
Emilin2	T	C	17: 71,617,756 (GRCm39)	S34G	probably benign	Het
Enpp2	C	A	15: 54,702,910 (GRCm39)	W862L	probably damaging	Het
Exoc2	T	C	13: 31,119,485 (GRCm39)	I139V	probably benign	Het
Fhad1	C	T	4: 141,691,936 (GRCm39)	R400H	probably benign	Het
Fv1	C	T	4: 147,954,595 (GRCm39)	T387M	probably damaging	Het
Gatad1	T	A	5: 3,693,701 (GRCm39)	D156V	probably damaging	Het
Gm4744	A	G	6: 40,927,367 (GRCm39)		probably benign	Het
Gm4799	G	A	10: 82,790,469 (GRCm39)		noncoding transcript	Het
Hadha	A	G	5: 30,333,804 (GRCm39)	F405S	probably benign	Het
Ifit3	T	C	19: 34,565,651 (GRCm39)	V399A	probably benign	Het
Il1rapl1	G	T	X: 86,348,469 (GRCm39)	Y150*	probably null	Het
Kirrel1	T	C	3: 86,997,779 (GRCm39)	E248G	probably benign	Het
Krt72	C	A	15: 101,686,769 (GRCm39)	K392N	probably damaging	Het
Loxhd1	G	A	18: 77,444,528 (GRCm39)	G309D	probably damaging	Het
Mc3r	T	G	2: 172,091,300 (GRCm39)	I174S	probably benign	Het
Me3	A	G	7: 89,282,273 (GRCm39)	D52G	probably benign	Het
Med12l	T	C	3: 59,168,256 (GRCm39)		probably null	Het
Mgat5	G	A	1: 127,325,378 (GRCm39)		probably null	Het
Mphosph10	A	T	7: 64,039,252 (GRCm39)	F239L	probably damaging	Het
Mrps7	T	C	11: 115,495,023 (GRCm39)	S13P	probably benign	Het
Nexn	T	C	3: 151,943,323 (GRCm39)	T527A	possibly damaging	Het
Nlrp1b	G	A	11: 71,046,885 (GRCm39)	H1156Y	probably damaging	Het
Nostrin	A	G	2: 68,989,129 (GRCm39)	E120G	probably damaging	Het
Oga	T	C	19: 45,767,079 (GRCm39)	D99G	probably null	Het
Or4c102	G	A	2: 88,422,492 (GRCm39)	V115I	possibly damaging	Het
Or4k2	A	G	14: 50,424,539 (GRCm39)	I45T	probably damaging	Het
Or52n4b	G	A	7: 108,143,782 (GRCm39)	V15I	probably benign	Het
Or5p70	A	C	7: 107,995,289 (GRCm39)	K321Q	probably benign	Het
Phldb2	T	C	16: 45,598,146 (GRCm39)	N802S	probably damaging	Het
Pik3c2g	T	C	6: 139,789,796 (GRCm39)		probably null	Het
Pikfyve	T	A	1: 65,304,443 (GRCm39)	I1670N	possibly damaging	Het
Pld5	A	G	1: 175,803,087 (GRCm39)	F393L	probably benign	Het
Plekhg1	C	A	10: 3,907,361 (GRCm39)	D759E	probably benign	Het
Plekhm1	A	G	11: 103,277,888 (GRCm39)	S403P	probably benign	Het
Pop1	T	C	15: 34,510,503 (GRCm39)	F432L	probably benign	Het
Ptpn13	T	C	5: 103,664,230 (GRCm39)	I406T	probably benign	Het
Ptpn5	G	T	7: 46,739,623 (GRCm39)	D185E	probably benign	Het
Rad50	G	T	11: 53,578,978 (GRCm39)	Q527K	possibly damaging	Het
Scn7a	A	G	2: 66,530,507 (GRCm39)	F613L	probably benign	Het
Sec16a	T	A	2: 26,330,057 (GRCm39)	M653L	probably benign	Het
Sh3bp2	T	C	5: 34,712,920 (GRCm39)		probably null	Het
Slc22a3	G	A	17: 12,725,991 (GRCm39)	T74I	probably benign	Het
Slc23a4	A	G	6: 34,932,057 (GRCm39)	L272P	probably damaging	Het
Slc26a8	T	C	17: 28,857,536 (GRCm39)	D869G	possibly damaging	Het
Slc5a11	T	A	7: 122,859,731 (GRCm39)	V291E	probably damaging	Het
Slc6a19	C	A	13: 73,832,167 (GRCm39)	A470S	probably benign	Het
Slfn8	A	G	11: 82,894,006 (GRCm39)	S878P	probably damaging	Het
Smchd1	A	G	17: 71,672,089 (GRCm39)	M1655T	possibly damaging	Het
Srgap2	A	G	1: 131,220,437 (GRCm39)	L179P	probably damaging	Het
Tbx2	A	G	11: 85,725,622 (GRCm39)	D191G	probably damaging	Het
Tenm3	A	G	8: 48,796,351 (GRCm39)	Y485H	probably damaging	Het
Trim12c	T	A	7: 103,990,095 (GRCm39)		probably benign	Het
Trpc6	A	G	9: 8,610,170 (GRCm39)	T213A	probably damaging	Het
Upp1	T	A	11: 9,084,708 (GRCm39)		probably null	Het
Vmn1r46	A	T	6: 89,953,198 (GRCm39)	I16L	probably benign	Het
Vmn2r75	A	T	7: 85,814,850 (GRCm39)	D214E	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,118 (GRCm39)	Y177N	probably damaging	Het
Vmn2r99	T	G	17: 19,582,521 (GRCm39)	I42S	possibly damaging	Het
Zeb1	A	T	18: 5,761,399 (GRCm39)	K232N	possibly damaging	Het
Zfp280b	T	C	10: 75,875,603 (GRCm39)	I494T	probably damaging	Het
Zfp804a	A	G	2: 82,066,143 (GRCm39)	D38G	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
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'- GGGCAGCAGTGAATGATTGTCCTG -3'
(R):5'- TGAAGGAACCCTGTGCCAACTGAG -3'

Sequencing Primer
(F):5'- TCAGAGTTACTGAATTCCTCCAGG -3'
(R):5'- AGTTATCCTCAATCCACGACTGG -3'

Posted On

2014-04-13