Mutagenetix > Incidental Mutation

Incidental Mutation 'R5781:Mocs2'

447750

Institutional Source

Beutler Lab

Gene Symbol

Mocs2

Ensembl Gene

ENSMUSG00000015536

Gene Name

molybdenum cofactor synthesis 2

Synonyms

MMRRC Submission

043378-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5781 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114954707-114965956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 114957455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 86 (S86R)

Ref Sequence

ENSEMBL: ENSMUSP00000138856 (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 benign
Transcript: ENSMUST00000015680
AA Change: V24G

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000015680
Gene: ENSMUSG00000015536
AA Change: V24G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000050131

Predicted Effect

probably benign
Transcript: ENSMUST00000164737
AA Change: V24G

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133069
Gene: ENSMUSG00000015536
AA Change: V24G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164871
AA Change: V24G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131816
Gene: ENSMUSG00000015536
AA Change: V24G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165022
AA Change: S86R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128965
Gene: ENSMUSG00000015536
AA Change: S86R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165669

Predicted Effect

probably damaging
Transcript: ENSMUST00000166104
AA Change: S86R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129021
Gene: ENSMUSG00000015536
AA Change: S86R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166176
AA Change: V24G

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125797
Gene: ENSMUSG00000015536
AA Change: V24G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170985

Predicted Effect

probably damaging
Transcript: ENSMUST00000183407
AA Change: S86R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139011
Gene: ENSMUSG00000015536
AA Change: S86R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184046
AA Change: V24G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000184214
AA Change: S86R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139285
Gene: ENSMUSG00000015536
AA Change: S86R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000184245
AA Change: S86R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139355
Gene: ENSMUSG00000015536
AA Change: S86R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184282

Predicted Effect

probably damaging
Transcript: ENSMUST00000184335
AA Change: S86R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139064
Gene: ENSMUSG00000015536
AA Change: S86R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184672
AA Change: V24G

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139298
Gene: ENSMUSG00000015536
AA Change: V24G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000184781
AA Change: S86R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138856
Gene: ENSMUSG00000015536
AA Change: S86R

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 109,992,813 (GRCm39)	L1617P	probably damaging	Het
Abhd16b	T	C	2: 181,135,947 (GRCm39)	V283A	probably damaging	Het
Adamts19	G	T	18: 58,971,040 (GRCm39)	R208L	possibly damaging	Het
Adamts4	T	C	1: 171,078,584 (GRCm39)	I56T	possibly damaging	Het
Alpk1	A	C	3: 127,473,684 (GRCm39)	V773G	possibly damaging	Het
Arhgap10	G	T	8: 78,177,336 (GRCm39)	Q100K	possibly damaging	Het
Arhgef18	T	A	8: 3,489,439 (GRCm39)		probably null	Het
Asb15	A	T	6: 24,564,377 (GRCm39)	H277L	probably benign	Het
Ascc3	T	A	10: 50,514,074 (GRCm39)	V291E	probably damaging	Het
Cnot6l	A	C	5: 96,234,024 (GRCm39)	V329G	probably benign	Het
Col14a1	A	G	15: 55,286,908 (GRCm39)	T910A	unknown	Het
Dhdds	G	A	4: 133,724,141 (GRCm39)	L58F	probably damaging	Het
Dsc2	A	G	18: 20,165,567 (GRCm39)	I846T	probably benign	Het
Evc	A	T	5: 37,483,914 (GRCm39)	S129T	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fyco1	A	G	9: 123,623,898 (GRCm39)	V1377A	probably damaging	Het
Haus6	C	T	4: 86,519,500 (GRCm39)	A203T	possibly damaging	Het
Hkdc1	T	G	10: 62,253,712 (GRCm39)	D23A	probably damaging	Het
Hpdl	C	T	4: 116,677,775 (GRCm39)	V229M	probably damaging	Het
Hspa12a	T	C	19: 58,810,518 (GRCm39)	Y175C	probably damaging	Het
Hyal1	C	T	9: 107,454,866 (GRCm39)	P59S	probably damaging	Het
Itpr1	G	A	6: 108,487,699 (GRCm39)	C2374Y	probably benign	Het
Kmt2a	A	T	9: 44,759,139 (GRCm39)	Y114*	probably null	Het
Mc2r	A	T	18: 68,540,468 (GRCm39)	I275K	probably damaging	Het
Mc2r	A	T	18: 68,540,466 (GRCm39)	Y276N	possibly damaging	Het
Mlycd	A	G	8: 120,137,019 (GRCm39)	Y413C	probably damaging	Het
Msx2	C	A	13: 53,626,644 (GRCm39)	A35S	probably benign	Het
Or6c201	A	T	10: 128,969,016 (GRCm39)	L207H	probably damaging	Het
Pla2g4f	C	A	2: 120,135,504 (GRCm39)	S390I	probably damaging	Het
Plcl1	C	T	1: 55,735,148 (GRCm39)	A163V	possibly damaging	Het
Pnn	T	C	12: 59,118,605 (GRCm39)	V396A	probably damaging	Het
Rbmxl1	G	A	8: 79,232,270 (GRCm39)		probably benign	Het
Recql	G	T	6: 142,311,344 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,699,089 (GRCm39)	N1195K	probably benign	Het
Rfwd3	G	A	8: 111,999,716 (GRCm39)	T754M	probably benign	Het
Sctr	A	G	1: 119,959,350 (GRCm39)	T98A	probably damaging	Het
Sdk1	T	A	5: 141,921,803 (GRCm39)	D6E	probably benign	Het
Smpdl3a	T	A	10: 57,684,034 (GRCm39)	I264K	possibly damaging	Het
Spag6	A	G	2: 18,736,804 (GRCm39)	I154V	probably benign	Het
Tbc1d12	A	C	19: 38,871,127 (GRCm39)	T297P	probably benign	Het
Tgfb1	A	G	7: 25,396,385 (GRCm39)	D226G	probably benign	Het
Ubr3	G	T	2: 69,846,588 (GRCm39)		probably null	Het
Ubr4	T	C	4: 139,195,407 (GRCm39)	Y1210H	probably damaging	Het
Ubr5	T	C	15: 38,006,785 (GRCm39)	T1157A	probably benign	Het
Vmn2r120	T	G	17: 57,831,938 (GRCm39)	T284P	probably benign	Het
Vps13b	G	T	15: 35,794,181 (GRCm39)	A2286S	probably damaging	Het
Zcchc14	A	T	8: 122,331,332 (GRCm39)		probably benign	Het
Zfr2	T	A	10: 81,079,547 (GRCm39)	V362E	probably benign	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
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
R8863:Mocs2	UTSW	13	114,962,815 (GRCm39)	missense	probably damaging	1.00
R9445:Mocs2	UTSW	13	114,961,879 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TTACTTAATGCAGCTGAGGAGG -3'
(R):5'- ACATCAAACTGCTTACTCTAGGG -3'

Sequencing Primer
(F):5'- GGTGTGAGGAGCAGTTCAC -3'
(R):5'- CAAACTGCTTACTCTAGGGGTCATG -3'

Posted On

2016-12-15