Mutagenetix > Incidental Mutation

Incidental Mutation 'R4638:Cngb1'

350800

Institutional Source

Beutler Lab

Gene Symbol

Cngb1

Ensembl Gene

ENSMUSG00000031789

Gene Name

cyclic nucleotide gated channel beta 1

Synonyms

Cngb1b, BC016201, Cngb1

MMRRC Submission

041900-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95965673-96033213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95992647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 196 (T196M)

Ref Sequence

ENSEMBL: ENSMUSP00000112437 (fasta)

Gene Model

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

AlphaFold

E1AZ71

Predicted Effect

probably damaging
Transcript: ENSMUST00000119870
AA Change: T655M

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

SMART Domains

Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: T655M

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

probably damaging
Transcript: ENSMUST00000120044
AA Change: T196M

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

SMART Domains

Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
AA Change: T196M

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

probably damaging
Transcript: ENSMUST00000121162
AA Change: T196M

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

SMART Domains

Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
AA Change: T196M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

91% (40/44)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,999,369 (GRCm39)	D155G	probably damaging	Het
Ano4	C	T	10: 88,790,559 (GRCm39)	A847T	probably damaging	Het
B4galt7	T	C	13: 55,747,959 (GRCm39)		probably benign	Het
Camk1g	T	A	1: 193,038,667 (GRCm39)	D85V	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cebpa	A	G	7: 34,819,687 (GRCm39)	N282D	probably damaging	Het
Cobll1	T	C	2: 64,929,581 (GRCm39)	M619V	probably benign	Het
Coro7	A	T	16: 4,450,151 (GRCm39)	I566N	probably damaging	Het
Dpyd	A	T	3: 119,059,726 (GRCm39)	S808C	probably benign	Het
Fbn2	A	G	18: 58,143,376 (GRCm39)	V2893A	probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Krba1	T	A	6: 48,386,685 (GRCm39)	L441*	probably null	Het
Lama5	T	C	2: 179,832,206 (GRCm39)	T1712A	possibly damaging	Het
Lnpep	G	A	17: 17,795,569 (GRCm39)	T314I	probably damaging	Het
Lyst	T	C	13: 13,871,379 (GRCm39)		probably null	Het
Naa16	C	A	14: 79,577,473 (GRCm39)		probably null	Het
Nek7	A	T	1: 138,472,038 (GRCm39)	F34Y	probably benign	Het
Or12e7	T	C	2: 87,288,327 (GRCm39)	S273P	possibly damaging	Het
Or2ag17	A	T	7: 106,390,205 (GRCm39)	M1K	probably null	Het
Park7	G	A	4: 150,991,556 (GRCm39)	Q45*	probably null	Het
Pclo	C	A	5: 14,730,447 (GRCm39)	S2983*	probably null	Het
Pth1r	A	G	9: 110,556,141 (GRCm39)	L244P	possibly damaging	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
Slc11a1	G	A	1: 74,414,437 (GRCm39)		probably benign	Het
Slc12a8	T	G	16: 33,410,693 (GRCm39)	S200A	possibly damaging	Het
Slc7a10	A	G	7: 34,897,355 (GRCm39)	E262G	probably damaging	Het
Smg1	T	C	7: 117,795,149 (GRCm39)		probably benign	Het
Snapc4	A	G	2: 26,255,314 (GRCm39)	L1070P	probably damaging	Het
Sp2	A	G	11: 96,848,300 (GRCm39)	I435T	possibly damaging	Het
Srp72	A	G	5: 77,138,142 (GRCm39)	E309G	probably benign	Het
Sympk	G	T	7: 18,777,385 (GRCm39)	R545L	possibly damaging	Het
Tie1	C	T	4: 118,341,039 (GRCm39)	R314H	probably benign	Het
Tmem198	G	T	1: 75,456,351 (GRCm39)	G2*	probably null	Het
Tmem81	A	G	1: 132,435,943 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,652,821 (GRCm39)	V10938E	possibly damaging	Het
Zfp773	T	A	7: 7,138,335 (GRCm39)	Y100F	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
IGL01575:Cngb1	APN	8	95,991,148 (GRCm39)	missense	possibly damaging	0.51
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
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

Predicted Primers

PCR Primer
(F):5'- GAAGGCCAAGTTCACCTTTG -3'
(R):5'- AGACATTACCCAGCTCAGGC -3'

Sequencing Primer
(F):5'- TCCACTCCTTAGTACATACCTAAGC -3'
(R):5'- TCAGGCCTGAGGTCCTG -3'

Posted On

2015-10-08