Mutagenetix > Incidental Mutation

Incidental Mutation 'R6750:Mocs2'

530735

Institutional Source

Beutler Lab

Gene Symbol

Mocs2

Ensembl Gene

ENSMUSG00000015536

Gene Name

molybdenum cofactor synthesis 2

Synonyms

MMRRC Submission

044867-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6750 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114954707-114965956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 114962784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 156 (D156E)

Ref Sequence

ENSEMBL: ENSMUSP00000139298 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000015680
AA Change: D156E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000015680
Gene: ENSMUSG00000015536
AA Change: D156E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000050131

Predicted Effect

probably damaging
Transcript: ENSMUST00000164737
AA Change: D124E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133069
Gene: ENSMUSG00000015536
AA Change: D124E

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: D156E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125797
Gene: ENSMUSG00000015536
AA Change: D156E

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

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 damaging
Transcript: ENSMUST00000184672
AA Change: D156E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139298
Gene: ENSMUSG00000015536
AA Change: D156E

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: 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 benign
Transcript: ENSMUST00000184781

SMART Domains

Protein: ENSMUSP00000138856
Gene: ENSMUSG00000015536

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170985

Meta Mutation Damage Score

0.3980

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	A	T	2: 120,973,130 (GRCm39)	L62F	probably damaging	Het
Akap13	C	T	7: 75,389,206 (GRCm39)	P2375S	probably benign	Het
Apob	T	A	12: 8,047,853 (GRCm39)	L931Q	probably damaging	Het
Arcn1	A	G	9: 44,661,691 (GRCm39)	V391A	possibly damaging	Het
Ccdc162	A	T	10: 41,437,222 (GRCm39)	I1729N	possibly damaging	Het
Cd24a	T	C	10: 43,458,721 (GRCm39)	L86P	unknown	Het
Cdcp3	T	A	7: 130,889,974 (GRCm39)		probably benign	Het
Churc1	C	A	12: 76,822,405 (GRCm39)	H71Q	probably damaging	Het
Clcn3	A	G	8: 61,367,809 (GRCm39)	L780P	possibly damaging	Het
Cldn17	C	T	16: 88,303,195 (GRCm39)	G178E	possibly damaging	Het
Cmah	A	G	13: 24,648,235 (GRCm39)	Y345C	probably damaging	Het
Cntnap5b	C	T	1: 100,202,224 (GRCm39)	S357L	probably damaging	Het
Col6a6	A	G	9: 105,660,879 (GRCm39)	I410T	probably damaging	Het
Crmp1	T	C	5: 37,422,666 (GRCm39)		probably null	Het
Csmd2	A	C	4: 128,091,018 (GRCm39)	N186H	possibly damaging	Het
Cyp1a1	A	T	9: 57,607,539 (GRCm39)	M56L	probably benign	Het
D2hgdh	G	C	1: 93,754,129 (GRCm39)	R56P	probably benign	Het
Dapk2	A	G	9: 66,128,034 (GRCm39)	E104G	probably damaging	Het
Dld	T	C	12: 31,382,213 (GRCm39)	N498S	probably benign	Het
Dyrk4	G	T	6: 126,875,918 (GRCm39)	Q106K	probably benign	Het
Eif2b4	T	C	5: 31,347,304 (GRCm39)	I333V	probably damaging	Het
F5	A	G	1: 164,021,076 (GRCm39)	T1184A	possibly damaging	Het
Fbxl6	C	T	15: 76,422,612 (GRCm39)	G102D	probably damaging	Het
Foxa1	C	T	12: 57,589,396 (GRCm39)	G275R	probably benign	Het
Fryl	A	G	5: 73,179,575 (GRCm39)	I2944T	probably damaging	Het
Gna15	T	C	10: 81,350,117 (GRCm39)	D95G	probably benign	Het
Greb1	T	A	12: 16,738,584 (GRCm39)	M1460L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,747,195 (GRCm39)	I444T	probably damaging	Het
Ifngr1	T	A	10: 19,485,099 (GRCm39)	M366K	probably benign	Het
Krt27	C	T	11: 99,239,806 (GRCm39)	E253K	probably damaging	Het
Mical2	C	T	7: 111,981,046 (GRCm39)	T406I	probably damaging	Het
Mprip	A	T	11: 59,586,957 (GRCm39)	K43N	probably damaging	Het
Myo5b	A	T	18: 74,750,106 (GRCm39)	T190S	possibly damaging	Het
Naa25	C	T	5: 121,546,372 (GRCm39)	T86M	probably damaging	Het
Ncam1	T	C	9: 49,478,639 (GRCm39)	D163G	probably damaging	Het
Nlrp4f	A	T	13: 65,329,468 (GRCm39)	Y908*	probably null	Het
Nlrp9b	T	A	7: 19,757,159 (GRCm39)	L132*	probably null	Het
Nrg1	A	C	8: 32,308,124 (GRCm39)	S679A	probably damaging	Het
Or1j1	C	A	2: 36,702,954 (GRCm39)	R50M	possibly damaging	Het
Or52p1	C	T	7: 104,267,320 (GRCm39)	R145C	probably damaging	Het
Paqr9	A	T	9: 95,443,050 (GRCm39)	T347S	probably damaging	Het
Pcdhb21	T	C	18: 37,647,501 (GRCm39)	L210P	probably damaging	Het
Pdzd7	T	G	19: 45,016,187 (GRCm39)	D978A	probably benign	Het
Phf8-ps	A	T	17: 33,285,372 (GRCm39)	S477T	possibly damaging	Het
Pkd1l1	A	T	11: 8,923,217 (GRCm39)	S17T	unknown	Het
Plcz1	T	C	6: 139,974,164 (GRCm39)	K93E	possibly damaging	Het
Pom121l2	G	C	13: 22,166,107 (GRCm39)	R126P	probably damaging	Het
Prkg1	C	T	19: 31,741,961 (GRCm39)	E88K	probably benign	Het
Psme4	A	T	11: 30,803,203 (GRCm39)	D15V	probably damaging	Het
Ptprf	A	G	4: 118,088,928 (GRCm39)	V625A	probably benign	Het
Rab27a	G	A	9: 72,992,290 (GRCm39)	S106N	probably damaging	Het
Rasa4	A	G	5: 136,129,802 (GRCm39)	T261A	probably benign	Het
Sardh	T	C	2: 27,118,269 (GRCm39)	D487G	probably benign	Het
Sec16a	A	G	2: 26,330,030 (GRCm39)	Y662H	probably benign	Het
Sema3d	T	A	5: 12,635,067 (GRCm39)	L711*	probably null	Het
Septin14	T	A	5: 129,773,181 (GRCm39)	Y152F	probably damaging	Het
Smc5	A	G	19: 23,220,004 (GRCm39)	L411P	probably damaging	Het
Spata31e5	C	A	1: 28,816,495 (GRCm39)	E512D	probably damaging	Het
Spg7	T	A	8: 123,800,650 (GRCm39)	V39E	probably damaging	Het
Tas2r117	A	G	6: 132,779,817 (GRCm39)		probably benign	Het
Tle1	A	T	4: 72,040,687 (GRCm39)	I631N	probably damaging	Het
Tmed3	T	A	9: 89,581,843 (GRCm39)	S207C	probably damaging	Het
Tmem59l	G	A	8: 70,939,022 (GRCm39)	P51S	probably benign	Het
Trpc3	A	G	3: 36,678,542 (GRCm39)	Y848H	probably damaging	Het
Tsen2	T	C	6: 115,526,881 (GRCm39)	F66S	probably damaging	Het
Ttll5	T	A	12: 86,003,384 (GRCm39)	S216R	probably damaging	Het
Usp22	A	T	11: 61,048,042 (GRCm39)	V426E	probably damaging	Het
Vmn2r76	T	C	7: 85,875,114 (GRCm39)	N621S	probably damaging	Het
Wdr75	A	G	1: 45,856,539 (GRCm39)	T521A	probably damaging	Het
Wrnip1	T	A	13: 32,986,739 (GRCm39)	D173E	probably damaging	Het
Zfp317	G	A	9: 19,559,100 (GRCm39)	G438D	probably damaging	Het
Zscan10	T	A	17: 23,826,164 (GRCm39)	S109T	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
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'- TGTCTTCATCCCCATCAAAGAG -3'
(R):5'- GGAAAACGGTCACTACATAAATGTG -3'

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

Posted On

2018-08-01