Mutagenetix > Incidental Mutation

Incidental Mutation 'R5445:Cnnm2'

427438

Institutional Source

Beutler Lab

Gene Symbol

Cnnm2

Ensembl Gene

ENSMUSG00000064105

Gene Name

cyclin M2

Synonyms

Acdp2

MMRRC Submission

043010-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5445 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46750035-46868631 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46865727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 772 (T772A)

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: T750A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000076850
Gene: ENSMUSG00000064105
AA Change: T750A

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: T772A

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000096972
Gene: ENSMUSG00000064105
AA Change: T772A

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,978,557 (GRCm39)	D300E	probably damaging	Het
Apbb1ip	T	C	2: 22,725,960 (GRCm39)	V244A	possibly damaging	Het
Arhgap32	T	C	9: 32,159,678 (GRCm39)	S232P	probably benign	Het
Atf7ip	G	A	6: 136,564,255 (GRCm39)	V833M	probably damaging	Het
Casp7	A	G	19: 56,421,770 (GRCm39)		probably null	Het
Ccdc9b	T	C	2: 118,590,067 (GRCm39)	D259G	probably damaging	Het
Celsr2	T	A	3: 108,299,974 (GRCm39)	E2911D	probably benign	Het
Cep350	T	C	1: 155,770,469 (GRCm39)	D1807G	probably benign	Het
Cfap251	C	T	5: 123,425,240 (GRCm39)	T294M	probably damaging	Het
Chrd	A	G	16: 20,557,660 (GRCm39)	T753A	possibly damaging	Het
Clasp2	A	G	9: 113,733,014 (GRCm39)	D971G	probably damaging	Het
Cntn1	A	T	15: 92,192,958 (GRCm39)	N687Y	probably damaging	Het
Col6a3	G	A	1: 90,709,761 (GRCm39)	R1812*	probably null	Het
Dsc2	T	C	18: 20,168,360 (GRCm39)	I700V	possibly damaging	Het
Flt3	G	A	5: 147,291,905 (GRCm39)	Q540*	probably null	Het
Fmo4	T	A	1: 162,632,842 (GRCm39)	I170F	probably benign	Het
Fra10ac1	T	A	19: 38,207,910 (GRCm39)	D72V	possibly damaging	Het
Garin2	G	A	12: 78,761,890 (GRCm39)	E185K	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Gm2381	T	G	7: 42,469,425 (GRCm39)	H233P	probably damaging	Het
Gm5148	T	A	3: 37,768,995 (GRCm39)	Q75L	probably damaging	Het
Gm8369	T	C	19: 11,482,170 (GRCm39)	V27A	possibly damaging	Het
Gpr157	T	C	4: 150,186,825 (GRCm39)	S318P	probably benign	Het
Hectd4	G	A	5: 121,404,337 (GRCm39)	V405M	probably benign	Het
Hemgn	T	C	4: 46,400,738 (GRCm39)	R41G	probably benign	Het
Hhipl1	T	A	12: 108,294,467 (GRCm39)	L791Q	probably damaging	Het
Hjurp	T	G	1: 88,194,038 (GRCm39)	K290T	probably benign	Het
Ifi207	T	C	1: 173,555,363 (GRCm39)	E773G	probably damaging	Het
Kcnh6	T	C	11: 105,914,685 (GRCm39)	Y697H	probably damaging	Het
Lonrf2	T	C	1: 38,846,234 (GRCm39)	T313A	probably benign	Het
Lrba	G	T	3: 86,275,902 (GRCm39)	V1757L	probably benign	Het
Lrrc24	T	C	15: 76,600,306 (GRCm39)	T278A	probably benign	Het
Ltbp2	T	C	12: 84,856,428 (GRCm39)	I679V	probably null	Het
Mapk4	G	T	18: 74,064,073 (GRCm39)	T383K	probably benign	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mia3	A	G	1: 183,117,471 (GRCm39)	V208A	probably benign	Het
Myo15a	C	A	11: 60,411,603 (GRCm39)	C3234*	probably null	Het
Nlrp1b	G	T	11: 71,108,701 (GRCm39)	Q267K	probably benign	Het
Nphp3	A	G	9: 103,881,922 (GRCm39)	K37E	probably damaging	Het
Nwd2	T	C	5: 63,962,681 (GRCm39)	M755T	probably damaging	Het
Or10u4	T	A	10: 129,802,158 (GRCm39)	H137L	probably benign	Het
Or52ac1	A	G	7: 104,246,028 (GRCm39)	F120S	probably damaging	Het
Or5p58	A	G	7: 107,693,949 (GRCm39)	V276A	possibly damaging	Het
Pdlim5	C	T	3: 142,058,495 (GRCm39)	R83K	probably null	Het
Plekha5	A	T	6: 140,498,459 (GRCm39)	R173*	probably null	Het
Pramel25	T	A	4: 143,521,707 (GRCm39)	V441E	possibly damaging	Het
Rbms3	T	A	9: 117,080,853 (GRCm39)	D6V	possibly damaging	Het
Rhoq	A	T	17: 87,271,755 (GRCm39)	Y57F	probably benign	Het
Rrm1	A	T	7: 102,100,230 (GRCm39)	T204S	possibly damaging	Het
Slf1	A	T	13: 77,239,323 (GRCm39)	I447N	probably benign	Het
Smarcc2	T	A	10: 128,323,943 (GRCm39)		probably benign	Het
Spdye4c	C	T	2: 128,438,484 (GRCm39)	Q281*	probably null	Het
Tert	T	A	13: 73,792,403 (GRCm39)	M890K	probably benign	Het
Tln1	C	A	4: 43,543,905 (GRCm39)	R1198L	probably benign	Het
Tmco4	A	G	4: 138,748,178 (GRCm39)	M253V	probably damaging	Het
Usp19	G	T	9: 108,375,119 (GRCm39)	V782F	possibly damaging	Het
Usp33	T	A	3: 152,080,260 (GRCm39)	S464T	probably damaging	Het
Usp47	A	T	7: 111,673,928 (GRCm39)	Y397F	probably damaging	Het
Vmn1r12	A	G	6: 57,136,466 (GRCm39)	T144A	probably benign	Het
Vmn2r90	A	T	17: 17,954,386 (GRCm39)	H850L	probably benign	Het
Zfhx3	A	T	8: 109,682,842 (GRCm39)	Q3427L	unknown	Het
Zfp236	G	T	18: 82,700,281 (GRCm39)	Q63K	probably benign	Het
Zfp7	T	A	15: 76,775,054 (GRCm39)	C365*	probably null	Het
Zfp786	T	C	6: 47,796,619 (GRCm39)	E773G	probably damaging	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
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'- ATACCCTGGTCTTGTCGCAG -3'
(R):5'- GACGTTTTGACAGCCAAGGG -3'

Sequencing Primer
(F):5'- TCTTGTCGCAGCTGAGC -3'
(R):5'- TTTTGACAGCCAAGGGGAAGC -3'

Posted On

2016-09-01