Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01472:Cnbd2'

88287

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: 0.074) question?

Stock #

IGL01472

Quality Score

Status

Chromosome

Chromosomal Location

156154219-156217558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 156217268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 457 (R457W)

Ref Sequence

ENSEMBL: ENSMUSP00000105208 (fasta)

Gene Model

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

AlphaFold

Q9D5U8

Predicted Effect

probably damaging
Transcript: ENSMUST00000037096
AA Change: R586W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041268
Gene: ENSMUSG00000038085
AA Change: R586W

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 damaging
Transcript: ENSMUST00000109580
AA Change: R457W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105208
Gene: ENSMUSG00000038085
AA Change: R457W

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: ENSMUST00000133751

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	G	A	7: 119,153,759 (GRCm39)		probably null	Het
Adamts4	T	C	1: 171,080,419 (GRCm39)	F324S	probably damaging	Het
Alg10b	T	A	15: 90,111,900 (GRCm39)	L248Q	possibly damaging	Het
Antxr2	T	A	5: 98,175,358 (GRCm39)	T90S	probably benign	Het
Arhgap21	C	T	2: 20,854,392 (GRCm39)	E1657K	probably damaging	Het
Atp13a5	T	G	16: 29,094,175 (GRCm39)	D803A	probably damaging	Het
Bzw2	T	C	12: 36,159,795 (GRCm39)	D185G	probably damaging	Het
Camta2	A	G	11: 70,574,950 (GRCm39)	S62P	probably damaging	Het
Cep85	T	C	4: 133,861,477 (GRCm39)	Q599R	possibly damaging	Het
Chsy3	G	A	18: 59,309,439 (GRCm39)	V231I	probably damaging	Het
Col20a1	A	G	2: 180,649,625 (GRCm39)	T1036A	probably benign	Het
Colgalt2	T	C	1: 152,382,629 (GRCm39)	Y494H	probably damaging	Het
Cox15	G	T	19: 43,732,104 (GRCm39)	Y237*	probably null	Het
Cpne9	C	A	6: 113,269,983 (GRCm39)	S281Y	possibly damaging	Het
D830013O20Rik	G	A	12: 73,411,090 (GRCm39)		noncoding transcript	Het
Dnah5	C	T	15: 28,331,872 (GRCm39)	R2153C	probably damaging	Het
Fam228a	A	G	12: 4,765,610 (GRCm39)	I267T	possibly damaging	Het
Fat4	G	A	3: 38,942,219 (GRCm39)	A371T	probably damaging	Het
Gm1818	T	C	12: 48,603,072 (GRCm39)		noncoding transcript	Het
Gm5592	T	C	7: 40,935,498 (GRCm39)		probably benign	Het
Golga4	C	A	9: 118,361,642 (GRCm39)	L207I	probably damaging	Het
Gtf3c1	A	G	7: 125,250,226 (GRCm39)		probably benign	Het
Hao1	C	T	2: 134,396,150 (GRCm39)	E35K	probably benign	Het
Iqch	T	C	9: 63,455,216 (GRCm39)	I194V	probably benign	Het
Ism1	A	T	2: 139,599,223 (GRCm39)	T392S	probably damaging	Het
Lcmt1	A	G	7: 123,027,376 (GRCm39)	Y313C	probably damaging	Het
Loxl4	A	G	19: 42,585,988 (GRCm39)	C718R	probably damaging	Het
Lyar	T	G	5: 38,382,066 (GRCm39)	I16R	possibly damaging	Het
Map3k20	T	C	2: 72,185,897 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,455,449 (GRCm39)	T941A	probably benign	Het
Myh8	A	G	11: 67,179,205 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,911,524 (GRCm39)	D1482G	probably benign	Het
Nr4a3	C	A	4: 48,071,133 (GRCm39)	A534D	probably damaging	Het
Oas1c	A	G	5: 120,940,986 (GRCm39)	V269A	probably damaging	Het
Odf2	T	A	2: 29,783,071 (GRCm39)	S5T	probably damaging	Het
Or5d36	T	A	2: 87,901,322 (GRCm39)	T135S	possibly damaging	Het
Or5p4	T	C	7: 107,680,411 (GRCm39)	S137P	probably benign	Het
Or9s27	T	A	1: 92,516,694 (GRCm39)	M214K	possibly damaging	Het
Pbk	A	G	14: 66,054,159 (GRCm39)	T235A	probably benign	Het
Phrf1	T	C	7: 140,836,403 (GRCm39)		probably benign	Het
Prkci	A	G	3: 31,104,341 (GRCm39)	D568G	probably damaging	Het
Prom2	T	A	2: 127,374,802 (GRCm39)	Y578F	probably benign	Het
Prph	T	C	15: 98,956,474 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,502,593 (GRCm39)	V3527A	probably benign	Het
Scn10a	C	T	9: 119,446,829 (GRCm39)	V1400I	probably damaging	Het
Slc10a2	A	G	8: 5,141,652 (GRCm39)	L244P	probably damaging	Het
Tardbp	A	G	4: 148,706,521 (GRCm39)	V96A	probably benign	Het
Tbc1d4	C	A	14: 101,727,300 (GRCm39)	E504*	probably null	Het
Tmed3	T	C	9: 89,584,928 (GRCm39)	E109G	probably benign	Het
Tnc	C	T	4: 63,924,656 (GRCm39)	R1014H	probably benign	Het
Tpcn2	C	T	7: 144,821,115 (GRCm39)	R313Q	probably damaging	Het
Trim45	A	G	3: 100,835,381 (GRCm39)	T455A	probably benign	Het
Txlna	A	G	4: 129,525,908 (GRCm39)	I313T	probably damaging	Het
Vmn1r202	A	T	13: 22,686,159 (GRCm39)	I86K	possibly damaging	Het
Vmn2r14	C	A	5: 109,364,180 (GRCm39)	E579*	probably null	Het
Wrn	T	A	8: 33,819,200 (GRCm39)	I8F	possibly damaging	Het
Zc3h18	A	G	8: 123,143,396 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,323,117 (GRCm39)	H876Q	probably benign	Het
Znrf2	C	T	6: 54,840,957 (GRCm39)	T177I	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
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
IGL03057:Cnbd2	APN	2	156,209,592 (GRCm39)	missense	possibly damaging	0.80
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

2013-11-18