Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03057:Cnbd2'

409300

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnbd2

Ensembl Gene

ENSMUSG00000038085

Gene Name

cyclic nucleotide binding domain containing 2

Synonyms

4921517L17Rik, 5430421B09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL03057

Quality Score

Status

Chromosome

Chromosomal Location

156154219-156217558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 156209592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 512 (I512F)

Ref Sequence

ENSEMBL: ENSMUSP00000041268 (fasta)

Gene Model

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

AlphaFold

Q9D5U8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037096
AA Change: I512F

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041268
Gene: ENSMUSG00000038085
AA Change: I512F

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

possibly damaging
Transcript: ENSMUST00000109580
AA Change: I383F

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105208
Gene: ENSMUSG00000038085
AA Change: I383F

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

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,488,754 (GRCm39)	A1295V	possibly damaging	Het
Adgre4	T	C	17: 56,106,602 (GRCm39)		probably benign	Het
Atp8b2	A	T	3: 89,851,493 (GRCm39)	Y901N	probably damaging	Het
Bud31	A	G	5: 145,083,378 (GRCm39)	T74A	probably benign	Het
C4b	C	A	17: 34,956,738 (GRCm39)		probably benign	Het
Ccdc92	G	A	5: 124,912,753 (GRCm39)	Q259*	probably null	Het
Ccn4	T	C	15: 66,763,489 (GRCm39)		probably benign	Het
Chfr	C	A	5: 110,291,475 (GRCm39)	Q98K	probably benign	Het
Ciita	T	A	16: 10,338,823 (GRCm39)		probably benign	Het
Cpa2	A	G	6: 30,557,726 (GRCm39)	Y346C	probably damaging	Het
Cpxm1	A	G	2: 130,235,109 (GRCm39)	L570P	probably damaging	Het
Cylc1	G	A	X: 110,166,370 (GRCm39)	G217D	unknown	Het
Dennd2a	T	C	6: 39,485,182 (GRCm39)	I366V	probably damaging	Het
Dis3	A	T	14: 99,327,426 (GRCm39)	M359K	possibly damaging	Het
Dock10	T	C	1: 80,545,088 (GRCm39)	N848S	probably damaging	Het
Dyrk3	C	T	1: 131,056,815 (GRCm39)	V453I	probably benign	Het
Ercc5	A	G	1: 44,206,161 (GRCm39)	E358G	probably damaging	Het
Fam167b	C	A	4: 129,471,960 (GRCm39)	C70F	possibly damaging	Het
Flt1	G	T	5: 147,618,734 (GRCm39)	Y200*	probably null	Het
Garin4	A	T	1: 190,895,141 (GRCm39)	S501T	probably benign	Het
Ggh	T	C	4: 20,065,770 (GRCm39)	V288A	probably benign	Het
Glb1l2	T	C	9: 26,717,586 (GRCm39)		probably benign	Het
Gm28042	A	G	2: 119,862,637 (GRCm39)	Y302C	probably damaging	Het
Gsta2	A	G	9: 78,241,192 (GRCm39)		probably benign	Het
Idh3b	T	A	2: 130,126,321 (GRCm39)	N6I	probably benign	Het
Irs4	A	G	X: 140,505,524 (GRCm39)	S891P	unknown	Het
Kcmf1	G	T	6: 72,820,010 (GRCm39)	R330S	probably benign	Het
Kif26a	G	T	12: 112,142,208 (GRCm39)	E821*	probably null	Het
L3mbtl1	A	G	2: 162,809,303 (GRCm39)	E670G	probably damaging	Het
Met	A	T	6: 17,558,765 (GRCm39)	D1131V	probably damaging	Het
Neo1	T	C	9: 58,785,342 (GRCm39)	E1428G	probably damaging	Het
Odf2	A	G	2: 29,813,657 (GRCm39)		probably benign	Het
Ogfod1	T	A	8: 94,782,766 (GRCm39)	L294H	possibly damaging	Het
Or8d1b	G	T	9: 38,887,514 (GRCm39)	V181F	probably benign	Het
Pcdhb20	A	T	18: 37,637,851 (GRCm39)	I126L	possibly damaging	Het
Pcdhb9	A	T	18: 37,534,330 (GRCm39)	Q108L	probably benign	Het
Prdm10	G	T	9: 31,260,481 (GRCm39)	R645L	probably damaging	Het
Psmb11	T	A	14: 54,863,236 (GRCm39)	C151*	probably null	Het
Reep1	T	A	6: 71,784,765 (GRCm39)		probably benign	Het
Reg3a	G	A	6: 78,358,939 (GRCm39)	A46T	possibly damaging	Het
Rnf213	T	A	11: 119,331,913 (GRCm39)	I2374N	probably damaging	Het
Slc17a7	T	C	7: 44,820,363 (GRCm39)	Y273H	probably damaging	Het
Smg6	T	A	11: 74,826,260 (GRCm39)	Y238*	probably null	Het
Sorcs1	T	A	19: 50,248,194 (GRCm39)	K411*	probably null	Het
Spta1	G	T	1: 174,008,624 (GRCm39)	A243S	probably benign	Het
Tas2r135	A	T	6: 42,378,061 (GRCm39)		probably benign	Het
Tbx18	T	C	9: 87,612,882 (GRCm39)	R6G	probably damaging	Het
Timp3	A	G	10: 86,136,815 (GRCm39)	D33G	possibly damaging	Het
Ttf1	A	G	2: 28,961,357 (GRCm39)	K582E	probably damaging	Het
Ubr5	C	A	15: 38,041,150 (GRCm39)		probably benign	Het
Ugt2b1	A	G	5: 87,074,200 (GRCm39)	V53A	possibly damaging	Het
Ush2a	G	T	1: 188,530,035 (GRCm39)	G3275W	probably damaging	Het
Usp19	G	A	9: 108,376,329 (GRCm39)	V1023M	probably benign	Het
Usp26	T	C	X: 50,846,135 (GRCm39)	I47V	possibly damaging	Het
Vapa	A	G	17: 65,901,902 (GRCm39)	V76A	probably damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het
Vps13a	T	C	19: 16,646,058 (GRCm39)	N1993S	probably damaging	Het
Wdr59	G	A	8: 112,202,750 (GRCm39)	R598C	probably damaging	Het

Other mutations in Cnbd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Cnbd2	APN	2	156,154,534 (GRCm39)	unclassified	probably benign
IGL01472:Cnbd2	APN	2	156,217,268 (GRCm39)	missense	probably damaging	1.00
IGL01738:Cnbd2	APN	2	156,217,537 (GRCm39)	utr 3 prime	probably benign
IGL01825:Cnbd2	APN	2	156,180,629 (GRCm39)	missense	probably damaging	1.00
IGL03001:Cnbd2	APN	2	156,175,554 (GRCm39)	critical splice donor site	probably null
R1006:Cnbd2	UTSW	2	156,170,328 (GRCm39)	missense	possibly damaging	0.86
R1080:Cnbd2	UTSW	2	156,181,193 (GRCm39)	missense	probably benign	0.28
R1428:Cnbd2	UTSW	2	156,181,204 (GRCm39)	critical splice donor site	probably null
R1592:Cnbd2	UTSW	2	156,177,322 (GRCm39)	missense	probably benign	0.30
R1601:Cnbd2	UTSW	2	156,175,551 (GRCm39)	missense	probably damaging	0.98
R1637:Cnbd2	UTSW	2	156,215,644 (GRCm39)	missense	probably damaging	1.00
R2259:Cnbd2	UTSW	2	156,177,192 (GRCm39)	missense	probably damaging	1.00
R2352:Cnbd2	UTSW	2	156,177,275 (GRCm39)	missense	probably damaging	1.00
R4106:Cnbd2	UTSW	2	156,177,318 (GRCm39)	missense	probably damaging	1.00
R4109:Cnbd2	UTSW	2	156,177,318 (GRCm39)	missense	probably damaging	1.00
R4479:Cnbd2	UTSW	2	156,175,573 (GRCm39)	intron	probably benign
R4857:Cnbd2	UTSW	2	156,209,485 (GRCm39)	missense	probably benign	0.01
R4893:Cnbd2	UTSW	2	156,207,104 (GRCm39)	missense	probably damaging	0.97
R4899:Cnbd2	UTSW	2	156,181,141 (GRCm39)	missense	probably benign	0.00
R5070:Cnbd2	UTSW	2	156,177,318 (GRCm39)	missense	probably damaging	1.00
R5446:Cnbd2	UTSW	2	156,209,581 (GRCm39)	missense	possibly damaging	0.95
R5784:Cnbd2	UTSW	2	156,180,577 (GRCm39)	missense	probably damaging	1.00
R6197:Cnbd2	UTSW	2	156,217,494 (GRCm39)	missense	possibly damaging	0.86
R7009:Cnbd2	UTSW	2	156,161,954 (GRCm39)	missense	probably benign	0.00
R7221:Cnbd2	UTSW	2	156,215,581 (GRCm39)	missense	probably benign	0.01
R7577:Cnbd2	UTSW	2	156,170,296 (GRCm39)	missense	possibly damaging	0.93
R7699:Cnbd2	UTSW	2	156,217,326 (GRCm39)	missense	probably benign	0.00
R8146:Cnbd2	UTSW	2	156,170,281 (GRCm39)	missense	probably damaging	1.00
R8893:Cnbd2	UTSW	2	156,154,460 (GRCm39)	missense	unknown
R9135:Cnbd2	UTSW	2	156,217,488 (GRCm39)	missense	probably damaging	0.97
R9715:Cnbd2	UTSW	2	156,183,547 (GRCm39)	missense	probably benign	0.13
R9734:Cnbd2	UTSW	2	156,180,540 (GRCm39)	missense	possibly damaging	0.91
X0002:Cnbd2	UTSW	2	156,180,617 (GRCm39)	missense	probably benign	0.22

Posted On

2016-08-02