Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03001:Cnbd2'

407369

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnbd2

Ensembl Gene

ENSMUSG00000038085

Gene Name

cyclic nucleotide binding domain containing 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL03001

Quality Score

Status

Chromosome

Chromosomal Location

156312299-156375638 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 156333634 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037096] [ENSMUST00000073942] [ENSMUST00000109580]

Predicted Effect

probably null
Transcript: ENSMUST00000037096

SMART Domains

Protein: ENSMUSP00000041268
Gene: ENSMUSG00000038085

Domain	Start	End	E-Value	Type
low complexity region	45	68	N/A	INTRINSIC
cNMP	206	332	1.78e-7	SMART
Blast:cNMP	376	443	4e-19	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000073942

SMART Domains

Protein: ENSMUSP00000073598
Gene: ENSMUSG00000038085

Domain	Start	End	E-Value	Type
cNMP	89	215	1.78e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109580

SMART Domains

Protein: ENSMUSP00000105208
Gene: ENSMUSG00000038085

Domain	Start	End	E-Value	Type
cNMP	77	203	1.78e-7	SMART
Blast:cNMP	247	314	3e-19	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154227

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility associated with impaired spermiogenesis and development of flagellum bending. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	C	5: 107,497,842	I9T	probably damaging	Het
Acan	A	C	7: 79,111,294	D1918A	probably damaging	Het
Ahcy	C	A	2: 155,064,828	D182Y	probably damaging	Het
Aldob	T	G	4: 49,542,844	D110A	probably damaging	Het
Alkbh8	A	T	9: 3,344,602	M53L	probably benign	Het
Aqr	T	C	2: 114,146,919	D363G	probably benign	Het
Asxl3	A	G	18: 22,517,398	R815G	probably damaging	Het
Atf4	T	A	15: 80,256,657	W83R	probably damaging	Het
Baz1a	A	T	12: 54,923,111	M587K	possibly damaging	Het
Cactin	T	A	10: 81,325,734	I700N	probably damaging	Het
Catsperg2	T	C	7: 29,725,079	S95G	probably benign	Het
Cbwd1	T	C	19: 24,922,638	K301E	probably benign	Het
Cd1d1	C	T	3: 86,998,161	S175N	probably benign	Het
Chd4	C	A	6: 125,101,566	A217E	possibly damaging	Het
Cntnap5c	G	A	17: 58,055,639	C329Y	probably damaging	Het
Col12a1	C	T	9: 79,633,673	G2391R	probably damaging	Het
Col5a3	T	A	9: 20,807,744	D238V	unknown	Het
Cuedc1	T	C	11: 88,182,489	V160A	probably benign	Het
Depdc5	T	C	5: 32,945,090	V342A	possibly damaging	Het
Dnah6	T	C	6: 73,149,140	D1338G	probably benign	Het
Dpyd	T	C	3: 118,917,242	V433A	probably benign	Het
Epb41l5	T	C	1: 119,617,644	H179R	probably damaging	Het
Fbf1	T	C	11: 116,165,886		probably benign	Het
Flnb	T	C	14: 7,934,680	S2251P	probably damaging	Het
Fsip2	A	T	2: 82,990,624		probably benign	Het
Grin2b	C	T	6: 135,739,115	V735M	probably damaging	Het
Itpr3	T	G	17: 27,089,612		probably benign	Het
Lingo4	C	T	3: 94,402,396	R214C	probably damaging	Het
Lrp1b	C	T	2: 40,927,889	R2329H	probably damaging	Het
Lrrc47	T	C	4: 154,015,993	L342P	probably damaging	Het
Mmp15	T	C	8: 95,368,217	S240P	probably damaging	Het
Ndufaf4	T	A	4: 24,901,747	N95K	probably benign	Het
Nms	C	T	1: 38,941,912	P60S	probably benign	Het
Npas3	A	T	12: 53,501,192	Y77F	probably damaging	Het
Olfr1158	T	A	2: 87,990,149	Y13N	probably benign	Het
Olfr1173	T	A	2: 88,274,845	D68V	probably damaging	Het
Olfr1412	T	A	1: 92,588,551	S74T	probably damaging	Het
Olfr320	T	G	11: 58,683,876	M1R	probably null	Het
Olfr561	G	T	7: 102,775,253	C243F	probably damaging	Het
Olfr926	A	G	9: 38,878,078	M301V	probably benign	Het
Picalm	T	C	7: 90,182,246	V429A	probably benign	Het
Pkhd1l1	T	A	15: 44,558,004	I3056N	probably damaging	Het
Pomt1	G	T	2: 32,244,326	M286I	probably benign	Het
Popdc2	A	T	16: 38,369,519	Y176F	probably benign	Het
Psg21	A	T	7: 18,652,485	M192K	probably benign	Het
Psma1	C	A	7: 114,266,439	A219S	probably benign	Het
Rad21l	T	G	2: 151,668,469	H22P	probably damaging	Het
Rnf213	A	G	11: 119,479,941	T4791A	probably damaging	Het
Sdk2	A	G	11: 113,821,626	V1609A	probably benign	Het
Sema3e	T	A	5: 14,241,043	S606T	probably benign	Het
Slc16a4	A	T	3: 107,311,542	R486S	possibly damaging	Het
Slc17a3	T	C	13: 23,856,784	L331P	probably damaging	Het
Slc38a11	A	T	2: 65,353,815	V164D	probably damaging	Het
Slc38a6	A	G	12: 73,337,053	I173V	probably benign	Het
Synpo2	T	C	3: 123,079,955	T1121A	probably benign	Het
Tfcp2	T	C	15: 100,528,421	D83G	possibly damaging	Het
Thnsl1	A	G	2: 21,211,644	T70A	probably damaging	Het
Tnfrsf21	A	G	17: 43,087,895	I631V	probably damaging	Het
Tor2a	C	A	2: 32,757,317	H6Q	possibly damaging	Het
Ttn	T	C	2: 76,734,923	N19993S	probably benign	Het
Vps53	T	C	11: 76,138,324	E119G	probably damaging	Het
Zkscan6	T	C	11: 65,814,669	W69R	probably damaging	Het
Zswim8	T	C	14: 20,714,391	S610P	probably damaging	Het

Other mutations in Cnbd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Cnbd2	APN	2	156312614	unclassified	probably benign
IGL01472:Cnbd2	APN	2	156375348	missense	probably damaging	1.00
IGL01738:Cnbd2	APN	2	156375617	utr 3 prime	probably benign
IGL01825:Cnbd2	APN	2	156338709	missense	probably damaging	1.00
IGL03057:Cnbd2	APN	2	156367672	missense	possibly damaging	0.80
R1006:Cnbd2	UTSW	2	156328408	missense	possibly damaging	0.86
R1080:Cnbd2	UTSW	2	156339273	missense	probably benign	0.28
R1428:Cnbd2	UTSW	2	156339284	critical splice donor site	probably null
R1592:Cnbd2	UTSW	2	156335402	missense	probably benign	0.30
R1601:Cnbd2	UTSW	2	156333631	missense	probably damaging	0.98
R1637:Cnbd2	UTSW	2	156373724	missense	probably damaging	1.00
R2259:Cnbd2	UTSW	2	156335272	missense	probably damaging	1.00
R2352:Cnbd2	UTSW	2	156335355	missense	probably damaging	1.00
R4106:Cnbd2	UTSW	2	156335398	missense	probably damaging	1.00
R4109:Cnbd2	UTSW	2	156335398	missense	probably damaging	1.00
R4479:Cnbd2	UTSW	2	156333653	intron	probably benign
R4857:Cnbd2	UTSW	2	156367565	missense	probably benign	0.01
R4893:Cnbd2	UTSW	2	156365184	missense	probably damaging	0.97
R4899:Cnbd2	UTSW	2	156339221	missense	probably benign	0.00
R5070:Cnbd2	UTSW	2	156335398	missense	probably damaging	1.00
R5446:Cnbd2	UTSW	2	156367661	missense	possibly damaging	0.95
R5784:Cnbd2	UTSW	2	156338657	missense	probably damaging	1.00
R6197:Cnbd2	UTSW	2	156375574	missense	possibly damaging	0.86
R7009:Cnbd2	UTSW	2	156320034	missense	probably benign	0.00
R7221:Cnbd2	UTSW	2	156373661	missense	probably benign	0.01
R7577:Cnbd2	UTSW	2	156328376	missense	possibly damaging	0.93
X0002:Cnbd2	UTSW	2	156338697	missense	probably benign	0.22

Posted On

2016-08-02