Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01575:Cngb1'

91232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cngb1

Ensembl Gene

ENSMUSG00000031789

Gene Name

cyclic nucleotide gated channel beta 1

Synonyms

Cngb1b, BC016201, Cngb1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01575

Quality Score

Status

Chromosome

Chromosomal Location

95965673-96033213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95991148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 226 (P226S)

Ref Sequence

ENSEMBL: ENSMUSP00000112437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119870] [ENSMUST00000120044] [ENSMUST00000121162]

AlphaFold

E1AZ71

Predicted Effect

probably benign
Transcript: ENSMUST00000119870
AA Change: P685S

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: P685S

Domain	Start	End	E-Value	Type
low complexity region	20	46	N/A	INTRINSIC
Pfam:Ion_trans	83	315	9.8e-17	PFAM
cNMP	389	508	4.1e-25	SMART
low complexity region	555	596	N/A	INTRINSIC
low complexity region	599	636	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120044
AA Change: P226S

PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
AA Change: P226S

Domain	Start	End	E-Value	Type
low complexity region	20	46	N/A	INTRINSIC
transmembrane domain	79	101	N/A	INTRINSIC
transmembrane domain	114	136	N/A	INTRINSIC
low complexity region	169	182	N/A	INTRINSIC
cNMP	389	508	4e-25	SMART
low complexity region	555	596	N/A	INTRINSIC
low complexity region	599	636	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121162
AA Change: P226S

PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
AA Change: P226S

Domain	Start	End	E-Value	Type
low complexity region	20	46	N/A	INTRINSIC
transmembrane domain	79	101	N/A	INTRINSIC
transmembrane domain	114	136	N/A	INTRINSIC
low complexity region	169	182	N/A	INTRINSIC
cNMP	389	508	4e-25	SMART
low complexity region	555	596	N/A	INTRINSIC
low complexity region	599	636	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display postnatal lethality, reduced body size and weight, and retinal rod degeneration followed by cone degeneration. Mice homozygous for an allele lacking the calmodulin-binding domain exhibit defective olfactory neural signaling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc2	C	T	2: 25,175,188 (GRCm39)		probably benign	Het
Atp10b	G	A	11: 43,063,548 (GRCm39)	R161H	probably benign	Het
Boll	A	G	1: 55,362,807 (GRCm39)		probably null	Het
Commd3	G	A	2: 18,679,528 (GRCm39)		probably null	Het
Ddx46	C	T	13: 55,801,996 (GRCm39)		probably benign	Het
Dmrtb1	A	G	4: 107,541,265 (GRCm39)	I32T	probably benign	Het
Dnah7a	T	C	1: 53,466,979 (GRCm39)		probably benign	Het
Dppa5a	A	G	9: 78,275,062 (GRCm39)	I80T	possibly damaging	Het
Galntl6	T	C	8: 58,880,710 (GRCm39)		probably benign	Het
Hmgcr	A	G	13: 96,793,103 (GRCm39)	Y510H	possibly damaging	Het
Idua	G	T	5: 108,829,973 (GRCm39)	R505L	possibly damaging	Het
Ifna15	A	G	4: 88,476,044 (GRCm39)	F147L	probably damaging	Het
Itga4	T	C	2: 79,118,599 (GRCm39)	S433P	probably damaging	Het
Kcnc1	T	C	7: 46,077,523 (GRCm39)	Y442H	possibly damaging	Het
Kmt2d	A	G	15: 98,744,736 (GRCm39)		probably benign	Het
Mpp7	A	G	18: 7,403,365 (GRCm39)		probably benign	Het
Or14c39	T	C	7: 86,344,501 (GRCm39)	V279A	probably benign	Het
Or5p64	A	C	7: 107,854,742 (GRCm39)	V201G	possibly damaging	Het
Or6c75	A	G	10: 129,337,436 (GRCm39)	I228V	probably benign	Het
Pam16l	T	C	10: 43,400,411 (GRCm39)	V55A	probably benign	Het
Phf14	T	C	6: 11,990,050 (GRCm39)	L693S	probably damaging	Het
Pkd1	A	G	17: 24,792,102 (GRCm39)	N1263S	probably damaging	Het
Rhbdl1	G	T	17: 26,055,112 (GRCm39)	A32E	possibly damaging	Het
Samd9l	A	G	6: 3,376,734 (GRCm39)	S176P	possibly damaging	Het
Scn1a	G	T	2: 66,103,580 (GRCm39)	F1893L	probably damaging	Het
Serpina3f	C	A	12: 104,184,699 (GRCm39)	P281Q	probably damaging	Het
Slc35a1	G	T	4: 34,668,932 (GRCm39)	Q294K	probably benign	Het
Sspo	G	A	6: 48,435,976 (GRCm39)	S1154N	probably benign	Het
Tdrd6	A	G	17: 43,938,871 (GRCm39)	S726P	probably benign	Het
Tiam2	A	T	17: 3,504,591 (GRCm39)	E24V	probably damaging	Het
Tmf1	T	C	6: 97,152,897 (GRCm39)	E392G	probably damaging	Het
Tns2	T	C	15: 102,021,626 (GRCm39)	V1089A	probably damaging	Het
Tspyl1	C	A	10: 34,159,086 (GRCm39)	N270K	probably damaging	Het
Usp32	A	T	11: 84,913,628 (GRCm39)	V901D	probably damaging	Het
Vldlr	A	G	19: 27,224,031 (GRCm39)	I764V	probably benign	Het
Wnk2	A	G	13: 49,300,152 (GRCm39)	V186A	probably damaging	Het
Zdhhc18	A	G	4: 133,341,210 (GRCm39)	V221A	probably damaging	Het

Other mutations in Cngb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Cngb1	APN	8	95,968,812 (GRCm39)	splice site	probably benign
IGL02329:Cngb1	APN	8	95,968,987 (GRCm39)	missense	probably benign	0.14
IGL03332:Cngb1	APN	8	96,025,474 (GRCm39)	splice site	probably benign
IGL03391:Cngb1	APN	8	96,030,333 (GRCm39)	unclassified	probably benign
stevie	UTSW	8	95,986,758 (GRCm39)	missense	probably damaging	1.00
swannie	UTSW	8	96,023,756 (GRCm39)	critical splice acceptor site	probably null
R0078:Cngb1	UTSW	8	95,991,173 (GRCm39)	critical splice acceptor site	probably null
R0116:Cngb1	UTSW	8	95,987,266 (GRCm39)	missense	probably damaging	1.00
R1073:Cngb1	UTSW	8	96,030,195 (GRCm39)	critical splice donor site	probably null
R1166:Cngb1	UTSW	8	95,986,809 (GRCm39)	missense	probably damaging	0.99
R1714:Cngb1	UTSW	8	95,984,559 (GRCm39)	missense	probably damaging	1.00
R1753:Cngb1	UTSW	8	96,024,401 (GRCm39)	critical splice donor site	probably benign
R1760:Cngb1	UTSW	8	96,026,328 (GRCm39)	missense	probably benign	0.03
R1833:Cngb1	UTSW	8	95,968,983 (GRCm39)	missense	probably damaging	1.00
R1935:Cngb1	UTSW	8	96,026,320 (GRCm39)	missense	probably damaging	1.00
R1939:Cngb1	UTSW	8	96,026,320 (GRCm39)	missense	probably damaging	1.00
R1940:Cngb1	UTSW	8	96,026,320 (GRCm39)	missense	probably damaging	1.00
R2045:Cngb1	UTSW	8	96,023,713 (GRCm39)	splice site	probably null
R2379:Cngb1	UTSW	8	95,986,758 (GRCm39)	missense	probably damaging	1.00
R2940:Cngb1	UTSW	8	95,978,735 (GRCm39)	missense	probably benign	0.44
R4034:Cngb1	UTSW	8	95,991,078 (GRCm39)	missense	possibly damaging	0.47
R4058:Cngb1	UTSW	8	95,994,282 (GRCm39)	missense	probably benign	0.00
R4425:Cngb1	UTSW	8	96,026,344 (GRCm39)	missense	probably damaging	1.00
R4585:Cngb1	UTSW	8	96,023,756 (GRCm39)	critical splice acceptor site	probably null
R4591:Cngb1	UTSW	8	95,980,012 (GRCm39)	missense	probably damaging	1.00
R4638:Cngb1	UTSW	8	95,992,647 (GRCm39)	missense	probably damaging	1.00
R4906:Cngb1	UTSW	8	95,978,601 (GRCm39)	missense	probably damaging	0.96
R4950:Cngb1	UTSW	8	95,975,135 (GRCm39)	missense	probably damaging	1.00
R4979:Cngb1	UTSW	8	95,985,785 (GRCm39)	missense	probably damaging	0.99
R5148:Cngb1	UTSW	8	95,992,611 (GRCm39)	missense	probably benign	0.28
R5474:Cngb1	UTSW	8	95,978,597 (GRCm39)	missense	probably damaging	1.00
R5475:Cngb1	UTSW	8	95,978,597 (GRCm39)	missense	probably damaging	1.00
R5545:Cngb1	UTSW	8	95,978,801 (GRCm39)	missense
R5585:Cngb1	UTSW	8	95,989,767 (GRCm39)	missense	probably damaging	1.00
R5637:Cngb1	UTSW	8	95,984,549 (GRCm39)	missense	probably damaging	1.00
R5785:Cngb1	UTSW	8	95,980,823 (GRCm39)	missense	possibly damaging	0.90
R5967:Cngb1	UTSW	8	95,978,534 (GRCm39)	missense	probably damaging	1.00
R6013:Cngb1	UTSW	8	96,010,949 (GRCm39)	unclassified	probably benign
R6049:Cngb1	UTSW	8	95,997,470 (GRCm39)	missense	probably damaging	0.99
R6370:Cngb1	UTSW	8	95,991,050 (GRCm39)	missense	probably benign	0.33
R6377:Cngb1	UTSW	8	95,975,608 (GRCm39)	missense	probably damaging	1.00
R6401:Cngb1	UTSW	8	96,030,367 (GRCm39)	unclassified	probably benign
R6427:Cngb1	UTSW	8	96,024,387 (GRCm39)	intron	probably benign
R6492:Cngb1	UTSW	8	95,991,052 (GRCm39)	missense	probably benign	0.01
R6613:Cngb1	UTSW	8	95,992,638 (GRCm39)	missense	possibly damaging	0.95
R6721:Cngb1	UTSW	8	95,997,516 (GRCm39)	missense	probably benign	0.05
R6919:Cngb1	UTSW	8	95,975,003 (GRCm39)	missense	probably null	1.00
R7012:Cngb1	UTSW	8	95,984,583 (GRCm39)	missense	possibly damaging	0.83
R7418:Cngb1	UTSW	8	96,004,887 (GRCm39)	nonsense	probably null
R7464:Cngb1	UTSW	8	95,980,811 (GRCm39)	missense	possibly damaging	0.92
R7806:Cngb1	UTSW	8	96,025,432 (GRCm39)	critical splice donor site	probably null
R8048:Cngb1	UTSW	8	95,989,838 (GRCm39)	missense	possibly damaging	0.90
R8074:Cngb1	UTSW	8	95,978,801 (GRCm39)	missense
R8189:Cngb1	UTSW	8	96,030,248 (GRCm39)	unclassified	probably benign
R8245:Cngb1	UTSW	8	96,024,408 (GRCm39)	missense	unknown
R8286:Cngb1	UTSW	8	96,002,252 (GRCm39)	missense
R8819:Cngb1	UTSW	8	95,980,037 (GRCm39)	critical splice acceptor site	probably null
R8906:Cngb1	UTSW	8	95,989,736 (GRCm39)	missense	probably damaging	1.00
R8979:Cngb1	UTSW	8	96,004,913 (GRCm39)	start gained	probably benign
R9075:Cngb1	UTSW	8	95,979,993 (GRCm39)	missense	probably damaging	1.00
R9131:Cngb1	UTSW	8	95,979,893 (GRCm39)	missense	probably benign	0.02
R9311:Cngb1	UTSW	8	96,010,794 (GRCm39)	critical splice donor site	probably null
R9375:Cngb1	UTSW	8	96,026,350 (GRCm39)	missense	unknown
R9745:Cngb1	UTSW	8	95,967,919 (GRCm39)	missense	unknown
R9773:Cngb1	UTSW	8	95,975,042 (GRCm39)	missense	probably damaging	1.00
RF010:Cngb1	UTSW	8	96,030,278 (GRCm39)	frame shift	probably null
RF053:Cngb1	UTSW	8	96,030,276 (GRCm39)	frame shift	probably null
T0722:Cngb1	UTSW	8	96,024,447 (GRCm39)	missense	probably damaging	0.99
T0722:Cngb1	UTSW	8	96,023,278 (GRCm39)	missense	probably benign	0.02
T0722:Cngb1	UTSW	8	96,030,342 (GRCm39)	unclassified	probably benign
T0722:Cngb1	UTSW	8	96,030,324 (GRCm39)	unclassified	probably benign
Z1177:Cngb1	UTSW	8	95,978,764 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09