Mutagenetix > Incidental Mutation

Incidental Mutation 'R8863:Mocs2'

675784

Institutional Source

Beutler Lab

Gene Symbol

Mocs2

Ensembl Gene

ENSMUSG00000015536

Gene Name

molybdenum cofactor synthesis 2

Synonyms

MMRRC Submission

068679-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8863 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114954707-114965956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114962815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 167 (K167E)

Ref Sequence

ENSEMBL: ENSMUSP00000015680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015680] [ENSMUST00000164737] [ENSMUST00000164871] [ENSMUST00000165022] [ENSMUST00000166104] [ENSMUST00000166176] [ENSMUST00000183407] [ENSMUST00000184046] [ENSMUST00000184214] [ENSMUST00000184245] [ENSMUST00000184335] [ENSMUST00000184672] [ENSMUST00000184781]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000015680
AA Change: K167E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015680
Gene: ENSMUSG00000015536
AA Change: K167E

Domain	Start	End	E-Value	Type
Pfam:MoaE	49	161	7.1e-43	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164737
AA Change: K135E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133069
Gene: ENSMUSG00000015536
AA Change: K135E

Domain	Start	End	E-Value	Type
Pfam:MoaE	46	97	3.1e-12	PFAM
Pfam:MoaE	94	130	7.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164871

SMART Domains

Protein: ENSMUSP00000131816
Gene: ENSMUSG00000015536

Domain	Start	End	E-Value	Type
PDB:4AP8\|D	38	75	1e-14	PDB
SCOP:d1fm0e_	44	75	1e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165022

SMART Domains

Protein: ENSMUSP00000128965
Gene: ENSMUSG00000015536

Domain	Start	End	E-Value	Type
Pfam:ThiS	9	88	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166104

SMART Domains

Protein: ENSMUSP00000129021
Gene: ENSMUSG00000015536

Domain	Start	End	E-Value	Type
Pfam:ThiS	9	88	1.1e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000166176
AA Change: K167E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125797
Gene: ENSMUSG00000015536
AA Change: K167E

Domain	Start	End	E-Value	Type
Pfam:MoaE	46	162	5.8e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183407

SMART Domains

Protein: ENSMUSP00000139011
Gene: ENSMUSG00000015536

Domain	Start	End	E-Value	Type
Pfam:ThiS	9	88	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184046

Predicted Effect

probably benign
Transcript: ENSMUST00000184214

SMART Domains

Protein: ENSMUSP00000139285
Gene: ENSMUSG00000015536

Domain	Start	End	E-Value	Type
Pfam:ThiS	9	88	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184245

SMART Domains

Protein: ENSMUSP00000139355
Gene: ENSMUSG00000015536

Domain	Start	End	E-Value	Type
Pfam:ThiS	9	88	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184335

SMART Domains

Protein: ENSMUSP00000139064
Gene: ENSMUSG00000015536

Domain	Start	End	E-Value	Type
Pfam:ThiS	9	88	1.1e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000184672
AA Change: K167E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139298
Gene: ENSMUSG00000015536
AA Change: K167E

Domain	Start	End	E-Value	Type
Pfam:MoaE	46	162	5.8e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184781

SMART Domains

Protein: ENSMUSP00000138856
Gene: ENSMUSG00000015536

Domain	Start	End	E-Value	Type
Pfam:ThiS	9	88	1.1e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

100% (44/44)

MGI Phenotype

FUNCTION: Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. Based on experiments with the human molybdopterin synthase ortholog, they are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice show inactivity of all molybdenum-dependent enzymes, slow weight gain, weakness, curly whiskers, hair growth and skin abnormalities, altered levels of purines, uric acid and S-sulfocysteine, bladder and kidney stone formation, increased neuronal apoptosis, and postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 127,836,123 (GRCm39)	S157P	possibly damaging	Het
Aasdhppt	C	A	9: 4,309,424 (GRCm39)	A5S	possibly damaging	Het
Aoc1l2	T	C	6: 48,907,042 (GRCm39)	L14P	probably benign	Het
Asb16	T	C	11: 102,168,058 (GRCm39)	Y373H	probably damaging	Het
Axin1	T	C	17: 26,362,375 (GRCm39)	S240P	probably benign	Het
C2cd5	T	C	6: 142,987,088 (GRCm39)	I505V	possibly damaging	Het
Camk2g	A	G	14: 20,810,244 (GRCm39)	L305P	probably damaging	Het
Ccm2	A	G	11: 6,535,211 (GRCm39)	K156E	probably damaging	Het
Cdh23	G	T	10: 60,212,613 (GRCm39)	Y1600*	probably null	Het
Cyp2c29	A	G	19: 39,261,810 (GRCm39)	Q16R	probably benign	Het
Ebf1	T	A	11: 44,774,666 (GRCm39)	V221E	probably damaging	Het
Fcgbpl1	A	G	7: 27,831,006 (GRCm39)	D73G	probably damaging	Het
Gtpbp1	A	G	15: 79,591,262 (GRCm39)	E125G	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igfbp3	A	G	11: 7,163,568 (GRCm39)	C75R	probably damaging	Het
Itgb4	T	A	11: 115,875,898 (GRCm39)	C478*	probably null	Het
L3mbtl4	T	A	17: 68,986,419 (GRCm39)	C488S	probably benign	Het
Lysmd4	T	C	7: 66,873,493 (GRCm39)	S43P	probably damaging	Het
Mpl	C	A	4: 118,314,602 (GRCm39)	V23F		Het
Muc4	A	T	16: 32,570,280 (GRCm39)	I447F	possibly damaging	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Ncf2	A	G	1: 152,711,864 (GRCm39)	*526W	probably null	Het
Oas1a	C	T	5: 121,043,943 (GRCm39)	G63D	probably damaging	Het
Or2q1	A	T	6: 42,794,780 (GRCm39)	Y125F	probably damaging	Het
Or5ac15	G	T	16: 58,939,712 (GRCm39)	C240*	probably null	Het
Or8c17	T	C	9: 38,180,655 (GRCm39)	V274A	probably damaging	Het
Piwil4	T	C	9: 14,631,383 (GRCm39)	N409S	probably benign	Het
Pkhd1l1	C	T	15: 44,433,382 (GRCm39)	Q3421*	probably null	Het
Plekha7	T	A	7: 115,753,875 (GRCm39)	D664V	probably damaging	Het
Pole	T	C	5: 110,437,233 (GRCm39)	M66T	possibly damaging	Het
Pon2	C	T	6: 5,265,480 (GRCm39)		probably null	Het
Pop4	G	A	7: 37,962,649 (GRCm39)	A205V	possibly damaging	Het
Ppp6r3	T	A	19: 3,521,030 (GRCm39)	E590D	probably damaging	Het
Ptpn6	T	A	6: 124,709,309 (GRCm39)	I96F	probably damaging	Het
Rfk	T	A	19: 17,372,590 (GRCm39)	N37K	probably benign	Het
Syne1	G	T	10: 5,049,527 (GRCm39)	Q7535K	probably damaging	Het
Tcf15	A	T	2: 151,986,023 (GRCm39)	I160F	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem160	T	C	7: 16,186,889 (GRCm39)	M1T	probably null	Het
Tpp1	C	T	7: 105,398,814 (GRCm39)	R205H	probably benign	Het
Trnt1	T	C	6: 106,751,443 (GRCm39)	F140S	probably damaging	Het
Ttf1	T	C	2: 28,969,492 (GRCm39)		probably null	Het
Vmn1r172	A	T	7: 23,359,210 (GRCm39)	I32F	probably benign	Het
Vwc2l	T	A	1: 70,768,063 (GRCm39)	N42K	possibly damaging	Het

Other mutations in Mocs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1605:Mocs2	UTSW	13	114,961,120 (GRCm39)	missense	probably benign	0.03
R1623:Mocs2	UTSW	13	114,961,158 (GRCm39)	missense	probably benign	0.02
R3881:Mocs2	UTSW	13	114,955,882 (GRCm39)	nonsense	probably null
R3957:Mocs2	UTSW	13	114,961,803 (GRCm39)	critical splice donor site	probably null
R4015:Mocs2	UTSW	13	114,957,334 (GRCm39)	splice site	probably benign
R5765:Mocs2	UTSW	13	114,962,692 (GRCm39)	critical splice acceptor site	probably null
R5781:Mocs2	UTSW	13	114,957,455 (GRCm39)	missense	probably damaging	1.00
R6750:Mocs2	UTSW	13	114,962,784 (GRCm39)	missense	probably damaging	0.98
R6829:Mocs2	UTSW	13	114,955,980 (GRCm39)	missense	probably benign	0.01
R7157:Mocs2	UTSW	13	114,961,143 (GRCm39)	missense	probably benign	0.11
R7346:Mocs2	UTSW	13	114,964,710 (GRCm39)	splice site	probably null
R7428:Mocs2	UTSW	13	114,957,400 (GRCm39)	missense	probably benign	0.20
R7817:Mocs2	UTSW	13	114,957,382 (GRCm39)	missense	probably damaging	1.00
R8007:Mocs2	UTSW	13	114,957,409 (GRCm39)	missense	possibly damaging	0.57
R8836:Mocs2	UTSW	13	114,961,760 (GRCm39)	missense	possibly damaging	0.51
R9445:Mocs2	UTSW	13	114,961,879 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TTGTCTTCATCCCCATCAAAGAG -3'
(R):5'- CTATACCATGTGCTCCTTGGGG -3'

Sequencing Primer
(F):5'- TCATCCCCATCAAAGAGTTTTTAATG -3'
(R):5'- GCTGAGAAGAACAGGATTC -3'

Posted On

2021-07-15