Mutagenetix > Incidental Mutation

Incidental Mutation 'R7022:Cnnm2'

545731

Institutional Source

Beutler Lab

Gene Symbol

Cnnm2

Ensembl Gene

ENSMUSG00000064105

Gene Name

cyclin M2

Synonyms

Acdp2

MMRRC Submission

045123-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46750035-46868631 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46750989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 260 (I260F)

Ref Sequence

ENSEMBL: ENSMUSP00000076850 (fasta)

Gene Model

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

AlphaFold

Q3TWN3

PDB Structure

Crystal structure of the Bateman domain of murine magnesium transporter CNNM2 bound to AMP [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000077666
AA Change: I260F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076850
Gene: ENSMUSG00000064105
AA Change: I260F

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

possibly damaging
Transcript: ENSMUST00000099373
AA Change: I260F

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096972
Gene: ENSMUSG00000064105
AA Change: I260F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,974,326 (GRCm39)	S203T	probably damaging	Het
Adat1	A	T	8: 112,716,494 (GRCm39)	M76K	probably damaging	Het
Ankrd33	G	C	15: 101,014,780 (GRCm39)	V56L	probably benign	Het
Ascc3	T	A	10: 50,592,725 (GRCm39)	L1134I	possibly damaging	Het
C3	T	G	17: 57,524,286 (GRCm39)	D948A	probably damaging	Het
Ccdc121rt3	A	C	5: 112,503,395 (GRCm39)	M103R	probably benign	Het
Ccdc40	A	G	11: 119,122,612 (GRCm39)	E138G	possibly damaging	Het
Cd80	A	G	16: 38,306,866 (GRCm39)		probably null	Het
Cdca7	T	A	2: 72,309,873 (GRCm39)		probably null	Het
Chit1	A	G	1: 134,079,030 (GRCm39)	S447G	probably benign	Het
Cmya5	C	T	13: 93,205,786 (GRCm39)		probably null	Het
Col1a2	T	C	6: 4,534,639 (GRCm39)	L881P	unknown	Het
Crebbp	A	T	16: 3,935,187 (GRCm39)	S901T	probably damaging	Het
Dcun1d2	T	C	8: 13,321,637 (GRCm39)	Y158C	probably damaging	Het
Dnhd1	C	T	7: 105,370,005 (GRCm39)	P4477S	probably benign	Het
Donson	A	G	16: 91,478,218 (GRCm39)	Y428H	probably damaging	Het
Dsp	G	T	13: 38,375,716 (GRCm39)	W1167L	probably benign	Het
Elmo2	C	T	2: 165,136,961 (GRCm39)	V592M	probably damaging	Het
Enpp3	T	A	10: 24,702,093 (GRCm39)	E60D	probably damaging	Het
Erfl	A	T	7: 24,631,089 (GRCm39)		probably null	Het
Fam83b	TAAGA	T	9: 76,409,394 (GRCm39)		probably null	Het
Fbxo38	A	G	18: 62,669,295 (GRCm39)	C52R	probably damaging	Het
Gm10912	T	C	2: 103,897,055 (GRCm39)	W65R	probably damaging	Het
Gm43518	A	T	5: 124,074,490 (GRCm39)	M44L	probably benign	Het
Gnb1	T	A	4: 155,637,913 (GRCm39)	D212E	probably damaging	Het
Gnl1	A	G	17: 36,299,620 (GRCm39)	N597S	probably damaging	Het
Gprin1	T	G	13: 54,886,855 (GRCm39)	E473A	probably benign	Het
Ighv1-69	T	A	12: 115,586,834 (GRCm39)	M100L	probably benign	Het
Igkv14-100	T	C	6: 68,496,193 (GRCm39)	S29P	probably damaging	Het
Ints6	A	G	14: 62,951,786 (GRCm39)	V232A	probably damaging	Het
Jup	A	G	11: 100,270,379 (GRCm39)	L376P	probably damaging	Het
Kdr	A	T	5: 76,132,920 (GRCm39)	Y119*	probably null	Het
Kif1a	T	G	1: 92,993,820 (GRCm39)	T377P	probably benign	Het
Lama5	C	A	2: 179,822,524 (GRCm39)	V2850L	probably damaging	Het
Lrp2	T	C	2: 69,313,552 (GRCm39)	Y2393C	probably damaging	Het
Mfsd13a	C	T	19: 46,356,763 (GRCm39)	Q255*	probably null	Het
Msh3	A	C	13: 92,372,096 (GRCm39)	D891E	probably damaging	Het
Msl2	A	G	9: 100,957,335 (GRCm39)	N2D	possibly damaging	Het
Myo19	T	C	11: 84,791,373 (GRCm39)	L476P	probably damaging	Het
Nbeal2	G	A	9: 110,467,686 (GRCm39)	R501W	probably damaging	Het
Nfasc	C	A	1: 132,548,787 (GRCm39)	K293N	probably damaging	Het
Npbwr1	A	T	1: 5,987,319 (GRCm39)	L65Q	probably damaging	Het
Nrbp1	T	A	5: 31,401,825 (GRCm39)	D34E	probably damaging	Het
Nup205	T	A	6: 35,220,871 (GRCm39)	V1891D	probably benign	Het
Or51g2	T	A	7: 102,623,175 (GRCm39)	N8I	possibly damaging	Het
Or5g29	T	A	2: 85,420,942 (GRCm39)	D19E	probably benign	Het
Or5k1b	T	C	16: 58,581,482 (GRCm39)	N19S	probably benign	Het
Or8g22	G	T	9: 38,958,379 (GRCm39)	C156*	probably null	Het
Oscp1	G	A	4: 125,976,783 (GRCm39)		probably null	Het
Pcdhgb7	A	G	18: 37,886,086 (GRCm39)	T419A	probably damaging	Het
Pdzph1	T	C	17: 59,281,121 (GRCm39)	D387G	probably benign	Het
Phc1	A	G	6: 122,311,990 (GRCm39)	F56S	probably damaging	Het
Pik3c2g	A	G	6: 139,599,061 (GRCm39)	E59G	possibly damaging	Het
Prickle1	G	T	15: 93,398,752 (GRCm39)	T692K	possibly damaging	Het
Rbm45	T	A	2: 76,206,738 (GRCm39)	L250Q	probably damaging	Het
Ror1	T	A	4: 100,265,108 (GRCm39)	M194K	probably damaging	Het
Rrbp1	T	A	2: 143,799,722 (GRCm39)		probably null	Het
Rundc3b	T	C	5: 8,562,348 (GRCm39)	K340R	probably null	Het
Scn1a	T	A	2: 66,148,243 (GRCm39)	T1101S	probably damaging	Het
Sdk1	C	G	5: 142,080,412 (GRCm39)		probably null	Het
Skic2	A	G	17: 35,064,183 (GRCm39)	F501S	possibly damaging	Het
Slc20a1	T	A	2: 129,041,979 (GRCm39)	M114K	probably damaging	Het
Sorl1	A	C	9: 41,881,047 (GRCm39)	I2158S	probably benign	Het
Strip1	A	T	3: 107,534,111 (GRCm39)	F174L	probably benign	Het
Sucnr1	A	T	3: 59,993,699 (GRCm39)	I76L	probably benign	Het
Syt17	C	T	7: 118,007,242 (GRCm39)	V412I	probably benign	Het
Tie1	T	A	4: 118,346,850 (GRCm39)	H18L	probably benign	Het
Tpp1	T	G	7: 105,398,129 (GRCm39)	K345Q	probably damaging	Het
Trcg1	G	A	9: 57,148,852 (GRCm39)	M141I	possibly damaging	Het
Trpc4ap	T	C	2: 155,499,742 (GRCm39)	N260S	probably benign	Het
Vps41	C	A	13: 19,026,438 (GRCm39)	T512K	possibly damaging	Het
Vps52	A	T	17: 34,178,293 (GRCm39)	M147L	probably benign	Het
Ywhaq	A	G	12: 21,441,752 (GRCm39)		probably benign	Het
Zfp619	A	G	7: 39,184,387 (GRCm39)	N139S	probably benign	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
R4878:Cnnm2	UTSW	19	46,847,522 (GRCm39)	missense	probably benign	0.45
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
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'- AGTCTTATTACCTGTGCACGTC -3'
(R):5'- TGTTGACCAGTACGTTGCC -3'

Sequencing Primer
(F):5'- TCTCCACGCCCGCACTAG -3'
(R):5'- ACCAGTACGTTGCCCAGCAG -3'

Posted On

2019-05-13