Mutagenetix > Incidental Mutation

Incidental Mutation 'R5976:Nsun2'

471792

Institutional Source

Beutler Lab

Gene Symbol

Nsun2

Ensembl Gene

ENSMUSG00000021595

Gene Name

NOL1/NOP2/Sun domain family member 2

Synonyms

Misu

MMRRC Submission

044158-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R5976 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69760135-69783899 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 69771271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135455 (fasta)

Gene Model

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

AlphaFold

Q1HFZ0

Predicted Effect

probably null
Transcript: ENSMUST00000022087

SMART Domains

Protein: ENSMUSP00000022087
Gene: ENSMUSG00000021595

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 null
Transcript: ENSMUST00000109699

SMART Domains

Protein: ENSMUSP00000105321
Gene: ENSMUSG00000021595

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 null
Transcript: ENSMUST00000176485

SMART Domains

Protein: ENSMUSP00000135455
Gene: ENSMUSG00000021595

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

Predicted Effect

probably null
Transcript: ENSMUST00000176485

SMART Domains

Protein: ENSMUSP00000135455
Gene: ENSMUSG00000021595

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankar	T	C	1: 72,682,450 (GRCm39)	T1154A	probably benign	Het
Ankrd26	A	T	6: 118,494,855 (GRCm39)		probably null	Het
Arih2	A	T	9: 108,485,172 (GRCm39)	*54R	probably null	Het
AW146154	T	G	7: 41,129,721 (GRCm39)	K465T	probably damaging	Het
Bend3	A	G	10: 43,386,540 (GRCm39)	Y311C	probably benign	Het
Bltp2	G	A	11: 78,174,955 (GRCm39)	A1697T	probably benign	Het
Ccdc110	A	T	8: 46,396,536 (GRCm39)	Y809F	possibly damaging	Het
Ccnh	C	T	13: 85,338,982 (GRCm39)	P76L	probably damaging	Het
Chaf1a	T	A	17: 56,371,115 (GRCm39)	C667S	probably damaging	Het
Clca3a1	A	T	3: 144,452,636 (GRCm39)	Y616N	probably damaging	Het
Cldn4	A	G	5: 134,975,410 (GRCm39)	C64R	probably damaging	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 133,801,837 (GRCm39)		probably benign	Het
Dclk2	C	A	3: 86,694,532 (GRCm39)	R752L	possibly damaging	Het
Dzank1	C	A	2: 144,343,409 (GRCm39)	G318W	probably damaging	Het
Edem1	T	A	6: 108,819,923 (GRCm39)	I236K	probably damaging	Het
Eif4e1b	T	C	13: 54,932,635 (GRCm39)	F75L	probably damaging	Het
Elmo3	A	G	8: 106,034,279 (GRCm39)	Y266C	probably damaging	Het
Enpep	A	G	3: 129,092,773 (GRCm39)	S509P	probably damaging	Het
Exoc8	A	G	8: 125,623,392 (GRCm39)	M325T	probably benign	Het
Fah	A	G	7: 84,243,949 (GRCm39)	M270T	probably benign	Het
Gabbr1	T	C	17: 37,378,754 (GRCm39)	L532P	probably damaging	Het
Gm10770	T	A	2: 150,021,320 (GRCm39)	K66*	probably null	Het
Gprc5c	A	T	11: 114,755,313 (GRCm39)	Q330L	possibly damaging	Het
Grin3a	T	A	4: 49,792,602 (GRCm39)	H377L	probably damaging	Het
Hipk3	T	C	2: 104,301,529 (GRCm39)	E221G	probably damaging	Het
Hsd17b6	T	A	10: 127,827,308 (GRCm39)	M255L	probably benign	Het
Ighv1-7	T	A	12: 114,502,379 (GRCm39)	E29D	probably benign	Het
Ing3	T	A	6: 21,971,173 (GRCm39)	S326T	probably benign	Het
Ipo7	T	C	7: 109,648,014 (GRCm39)	L632P	probably damaging	Het
Kdm6b	A	G	11: 69,294,614 (GRCm39)		probably null	Het
Kif21a	T	G	15: 90,820,015 (GRCm39)	D1583A	probably damaging	Het
Lama2	C	T	10: 27,066,672 (GRCm39)	V1070I	probably benign	Het
Lrp1	A	T	10: 127,419,770 (GRCm39)	S946R	probably damaging	Het
Lrrc37a	A	G	11: 103,389,897 (GRCm39)	S1843P	possibly damaging	Het
Ltbp1	T	C	17: 75,597,078 (GRCm39)	Y517H	probably damaging	Het
Map2k4	T	A	11: 65,600,778 (GRCm39)	N51I	probably benign	Het
Mfsd2b	G	T	12: 4,916,522 (GRCm39)	A216D	probably damaging	Het
Nbea	T	C	3: 55,761,268 (GRCm39)	T2025A	probably benign	Het
Neb	A	G	2: 52,106,928 (GRCm39)	V4162A	possibly damaging	Het
Nr3c1	A	T	18: 39,554,602 (GRCm39)	F599I	probably damaging	Het
Or10ab4	T	A	7: 107,655,005 (GRCm39)	M272K	possibly damaging	Het
Or8b37	G	T	9: 37,958,997 (GRCm39)	V160F	possibly damaging	Het
Otoa	T	A	7: 120,726,936 (GRCm39)	W524R	probably benign	Het
Paip1	T	A	13: 119,593,533 (GRCm39)	D182E	probably damaging	Het
Pde1a	G	A	2: 79,698,586 (GRCm39)	Q415*	probably null	Het
Pfkfb2	T	A	1: 130,635,816 (GRCm39)	K72*	probably null	Het
Pigg	A	G	5: 108,480,057 (GRCm39)	E444G	probably null	Het
Plec	T	C	15: 76,073,237 (GRCm39)	Y669C	probably damaging	Het
Ptp4a3	T	C	15: 73,627,885 (GRCm39)	V94A	possibly damaging	Het
Ptprg	A	G	14: 12,211,625 (GRCm38)	E969G	probably damaging	Het
R3hcc1l	T	A	19: 42,551,789 (GRCm39)	V262E	probably benign	Het
Ranbp3l	T	G	15: 9,030,916 (GRCm39)	F65C	possibly damaging	Het
Rbm19	T	A	5: 120,278,372 (GRCm39)	S718R	probably benign	Het
Recql4	C	A	15: 76,593,624 (GRCm39)	R162L	probably benign	Het
Rest	T	C	5: 77,416,119 (GRCm39)	L111P	probably benign	Het
Rgma	T	C	7: 73,059,216 (GRCm39)	S13P	probably damaging	Het
Rogdi	T	A	16: 4,831,175 (GRCm39)	I31F	probably benign	Het
Serpinb9e	T	A	13: 33,439,112 (GRCm39)	D179E	probably benign	Het
Slc1a5	T	C	7: 16,529,807 (GRCm39)	C409R	probably damaging	Het
Slc25a38	A	G	9: 119,945,613 (GRCm39)	T38A	probably damaging	Het
Spag17	C	T	3: 100,003,107 (GRCm39)	Q1897*	probably null	Het
St7	C	A	6: 17,694,221 (GRCm39)	A4E	possibly damaging	Het
Tbcel	T	A	9: 42,350,499 (GRCm39)	I263F	possibly damaging	Het
Tmtc3	A	G	10: 100,312,534 (GRCm39)	V103A	probably benign	Het
Tnc	G	A	4: 63,936,403 (GRCm39)	P178S	probably benign	Het
Vwf	A	G	6: 125,580,426 (GRCm39)	D558G		Het
Zfp541	A	G	7: 15,810,344 (GRCm39)	K127R	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
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
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'- AAGCTCTTCAGTGAGTGGGC -3'
(R):5'- TTAAGAACTGGCTGCACACATG -3'

Sequencing Primer
(F):5'- CTCTTCAGTGAGTGGGCTAGTATAC -3'
(R):5'- ACACATGCTCACCTTCACTC -3'

Posted On

2017-03-31