Mutagenetix > Incidental Mutation

Incidental Mutation 'R4878:Cnnm2'

375098

Institutional Source

Beutler Lab

Gene Symbol

Cnnm2

Ensembl Gene

ENSMUSG00000064105

Gene Name

cyclin M2

Synonyms

Acdp2

MMRRC Submission

042487-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46750035-46868631 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46847522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 682 (P682S)

Ref Sequence

ENSEMBL: ENSMUSP00000096972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077666] [ENSMUST00000099373]

AlphaFold

Q3TWN3

Predicted Effect

probably benign
Transcript: ENSMUST00000077666
AA Change: P682S

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000076850
Gene: ENSMUSG00000064105
AA Change: P682S

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
low complexity region	56	67	N/A	INTRINSIC
low complexity region	194	227	N/A	INTRINSIC
Pfam:DUF21	257	431	7.8e-39	PFAM
Blast:CBS	455	505	3e-14	BLAST
Pfam:CBS	514	578	7.6e-6	PFAM
Blast:cNMP	649	805	2e-49	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000099373
AA Change: P682S

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096972
Gene: ENSMUSG00000064105
AA Change: P682S

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
low complexity region	56	67	N/A	INTRINSIC
low complexity region	194	227	N/A	INTRINSIC
Pfam:DUF21	257	431	2.6e-39	PFAM
Blast:CBS	455	505	3e-14	BLAST
Pfam:CBS	514	578	1.1e-5	PFAM
Blast:cNMP	649	827	1e-46	BLAST

Meta Mutation Damage Score

0.1593

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Allele List at MGI

All alleles(90) : Gene trapped(90)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	C	A	4: 144,340,415 (GRCm39)	H47N	possibly damaging	Het
Adgrg3	A	T	8: 95,761,714 (GRCm39)	N159I	possibly damaging	Het
Agrn	A	T	4: 156,255,302 (GRCm39)	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Atg2a	A	T	19: 6,300,274 (GRCm39)	E694V	probably damaging	Het
Ccndbp1	T	A	2: 120,845,172 (GRCm39)	L363*	probably null	Het
Cdh16	A	T	8: 105,344,696 (GRCm39)	D478E	probably damaging	Het
Cep295	A	T	9: 15,246,252 (GRCm39)	W735R	probably benign	Het
Daam2	C	A	17: 49,767,738 (GRCm39)	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,984,543 (GRCm39)	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,456,231 (GRCm39)		probably benign	Het
Efemp2	A	T	19: 5,530,789 (GRCm39)		probably benign	Het
Emilin1	A	G	5: 31,074,410 (GRCm39)	D217G	probably benign	Het
Enpep	A	T	3: 129,070,420 (GRCm39)	M829K	probably benign	Het
Epb41l4a	A	G	18: 33,931,625 (GRCm39)	V623A	probably damaging	Het
Erlin2	T	A	8: 27,517,194 (GRCm39)		probably null	Het
Fbln2	T	C	6: 91,233,977 (GRCm39)		probably null	Het
Gga3	A	T	11: 115,482,147 (GRCm39)	I157N	probably damaging	Het
Gtpbp6	C	T	5: 110,255,177 (GRCm39)		probably benign	Het
Hps4	T	C	5: 112,523,234 (GRCm39)	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,083,567 (GRCm39)	Y51C	probably benign	Het
Kif13b	T	C	14: 65,043,603 (GRCm39)	L1801P	probably benign	Het
Kif16b	T	C	2: 142,689,923 (GRCm39)	I330V	probably damaging	Het
Klb	A	T	5: 65,505,833 (GRCm39)	R27W	probably damaging	Het
Lrif1	A	T	3: 106,642,956 (GRCm39)	K169M	probably damaging	Het
Lrrc37	A	G	11: 103,508,717 (GRCm39)		probably benign	Het
Met	A	G	6: 17,549,058 (GRCm39)	D970G	probably damaging	Het
Mical3	A	T	6: 120,946,348 (GRCm39)	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094 (GRCm39)	N97D	probably benign	Het
Msh5	G	A	17: 35,257,432 (GRCm39)	R321C	probably damaging	Het
Mybpc1	T	C	10: 88,387,292 (GRCm39)	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,325,004 (GRCm39)	G970D	probably damaging	Het
Neb	T	C	2: 52,109,406 (GRCm39)	Y232C	probably damaging	Het
Nefh	A	G	11: 4,891,333 (GRCm39)	S429P	probably damaging	Het
Notch3	C	T	17: 32,366,059 (GRCm39)	G1014D	probably damaging	Het
Nup107	A	T	10: 117,587,323 (GRCm39)	C859S	probably benign	Het
Or1d2	T	C	11: 74,255,674 (GRCm39)	Y60H	probably damaging	Het
Or2n1d	T	G	17: 38,646,518 (GRCm39)	F157V	probably benign	Het
Or5m3b	A	G	2: 85,871,799 (GRCm39)	I47V	probably benign	Het
Otud7b	T	A	3: 96,043,821 (GRCm39)		probably benign	Het
Pde1a	A	T	2: 79,708,483 (GRCm39)	S312T	probably benign	Het
Piwil1	G	T	5: 128,818,045 (GRCm39)	R94L	probably damaging	Het
Pnma2	G	A	14: 67,154,503 (GRCm39)	W309*	probably null	Het
Ppef2	A	C	5: 92,376,599 (GRCm39)		probably null	Het
Rabac1	T	A	7: 24,669,392 (GRCm39)	Q212L	possibly damaging	Het
Rad51	T	C	2: 118,950,973 (GRCm39)		probably benign	Het
Rbm48	A	T	5: 3,641,853 (GRCm39)		probably benign	Het
Rft1	C	T	14: 30,399,761 (GRCm39)	S315L	probably benign	Het
Rgs13	C	T	1: 144,047,217 (GRCm39)	M1I	probably null	Het
Rhbg	A	C	3: 88,154,760 (GRCm39)	S215A	probably benign	Het
Rufy2	A	T	10: 62,837,990 (GRCm39)	N379I	probably damaging	Het
Slc17a1	T	C	13: 24,064,637 (GRCm39)	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,294,501 (GRCm39)	R308C	probably benign	Het
Smo	A	G	6: 29,753,570 (GRCm39)	T149A	probably benign	Het
Sqle	A	G	15: 59,187,934 (GRCm39)	K81E	probably benign	Het
Tfpi	A	G	2: 84,282,899 (GRCm39)		probably null	Het
Tnk2	A	G	16: 32,498,448 (GRCm39)	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,808 (GRCm39)	M1149K	probably benign	Het
Utrn	T	A	10: 12,603,502 (GRCm39)	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971 (GRCm39)	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,699,031 (GRCm39)	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,719,865 (GRCm39)	G184*	probably null	Het

Other mutations in Cnnm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Cnnm2	APN	19	46,751,659 (GRCm39)	missense	probably damaging	1.00
IGL01971:Cnnm2	APN	19	46,860,115 (GRCm39)	missense	probably benign	0.19
IGL02003:Cnnm2	APN	19	46,856,998 (GRCm39)	missense	probably damaging	1.00
IGL02068:Cnnm2	APN	19	46,865,827 (GRCm39)	missense	possibly damaging	0.94
IGL02185:Cnnm2	APN	19	46,751,434 (GRCm39)	missense	probably benign	0.45
IGL02652:Cnnm2	APN	19	46,751,650 (GRCm39)	missense	probably damaging	1.00
IGL02682:Cnnm2	APN	19	46,750,515 (GRCm39)	missense	probably benign	0.37
IGL03009:Cnnm2	APN	19	46,865,794 (GRCm39)	missense	probably damaging	1.00
IGL03378:Cnnm2	APN	19	46,866,473 (GRCm39)	missense	possibly damaging	0.76
R1581:Cnnm2	UTSW	19	46,751,562 (GRCm39)	missense	probably damaging	0.99
R3700:Cnnm2	UTSW	19	46,750,990 (GRCm39)	missense	probably damaging	1.00
R3892:Cnnm2	UTSW	19	46,750,232 (GRCm39)	nonsense	probably null
R3911:Cnnm2	UTSW	19	46,866,375 (GRCm39)	missense	probably damaging	0.96
R4508:Cnnm2	UTSW	19	46,865,709 (GRCm39)	missense	probably benign	0.01
R4678:Cnnm2	UTSW	19	46,751,685 (GRCm39)	missense	possibly damaging	0.91
R5154:Cnnm2	UTSW	19	46,751,571 (GRCm39)	missense	probably benign	0.02
R5445:Cnnm2	UTSW	19	46,865,727 (GRCm39)	missense	possibly damaging	0.66
R5771:Cnnm2	UTSW	19	46,845,434 (GRCm39)	splice site	probably null
R5914:Cnnm2	UTSW	19	46,751,616 (GRCm39)	missense	probably benign	0.07
R6263:Cnnm2	UTSW	19	46,845,344 (GRCm39)	missense	probably benign	0.30
R6715:Cnnm2	UTSW	19	46,842,412 (GRCm39)	missense	probably damaging	1.00
R6881:Cnnm2	UTSW	19	46,865,658 (GRCm39)	missense	probably damaging	1.00
R7022:Cnnm2	UTSW	19	46,847,379 (GRCm39)	splice site	probably null
R7022:Cnnm2	UTSW	19	46,750,989 (GRCm39)	missense	probably damaging	0.98
R7486:Cnnm2	UTSW	19	46,750,513 (GRCm39)	missense	possibly damaging	0.94
R7600:Cnnm2	UTSW	19	46,750,506 (GRCm39)	missense	probably benign	0.02
R7648:Cnnm2	UTSW	19	46,866,339 (GRCm39)	missense	probably damaging	0.98
R7800:Cnnm2	UTSW	19	46,866,420 (GRCm39)	missense	probably benign	0.28
R8867:Cnnm2	UTSW	19	46,750,996 (GRCm39)	missense	probably damaging	0.99
R8971:Cnnm2	UTSW	19	46,845,362 (GRCm39)	missense	probably benign	0.28
R9433:Cnnm2	UTSW	19	46,750,807 (GRCm39)	missense	probably benign	0.23
R9463:Cnnm2	UTSW	19	46,750,990 (GRCm39)	missense	probably damaging	1.00
X0017:Cnnm2	UTSW	19	46,750,902 (GRCm39)	missense	probably benign	0.05
X0018:Cnnm2	UTSW	19	46,751,212 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATTGCTAGCACGGCCTTTG -3'
(R):5'- TATGCAAGTGGGGTTCCAG -3'

Sequencing Primer
(F):5'- GCCCTTCCTTGAAGTGTAATGTCAAG -3'
(R):5'- GTTCCAGAACCGCCCCC -3'

Posted On

2016-03-17