Mutagenetix > Incidental Mutations

Incidental Mutation 'R4950:Cngb1'

381921

Institutional Source

Beutler Lab

Gene Symbol

Cngb1

Ensembl Gene

ENSMUSG00000031789

Gene Name

cyclic nucleotide gated channel beta 1

Synonyms

BC016201, Cngb1b, Cngb1

MMRRC Submission

042547-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95239045-95306585 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95248507 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 654 (G654W)

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: G1113W

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

SMART Domains

Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: G1113W

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: G654W

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

SMART Domains

Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
AA Change: G654W

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: G654W

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

SMART Domains

Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
AA Change: G654W

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

0.3168

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.9%

Validation Efficiency

100% (58/58)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bpifb9b	A	T	2: 154,311,659	D215V	probably damaging	Het
Cacna1i	A	G	15: 80,368,671	E625G	probably damaging	Het
Cage1	C	T	13: 38,023,326	S181N	possibly damaging	Het
Ccdc36	A	C	9: 108,421,510	S36R	probably damaging	Het
Ccdc73	A	C	2: 104,992,366	I887L	probably benign	Het
Cfap65	T	A	1: 74,906,336	K1408*	probably null	Het
Cxcl15	A	T	5: 90,795,245	E35D	possibly damaging	Het
Ddi1	A	G	9: 6,266,073	S99P	probably benign	Het
Disp3	A	T	4: 148,258,126	D622E	possibly damaging	Het
Dnajc22	G	A	15: 99,101,734	V267I	probably benign	Het
Dph5	G	A	3: 115,928,643	G257S	probably benign	Het
Elmo2	A	T	2: 165,314,813		probably null	Het
Fam186a	T	C	15: 99,941,653	R2237G	unknown	Het
Fez1	G	A	9: 36,867,882	R285Q	probably damaging	Het
Fsip2	A	T	2: 82,946,932	H101L	probably damaging	Het
Fsip2	G	A	2: 82,977,414	C1359Y	probably benign	Het
Fxyd7	G	A	7: 31,047,390	T15I	probably benign	Het
Gpr155	A	T	2: 73,382,185	D31E	probably benign	Het
Irx6	A	T	8: 92,678,800	Y432F	probably damaging	Het
Itih5	A	C	2: 10,235,081	I340L	probably damaging	Het
Lao1	T	C	4: 118,965,375	L164S	probably damaging	Het
Mcoln3	T	C	3: 146,139,519	I490T	probably damaging	Het
Mef2b	T	C	8: 70,167,196	Y311H	probably damaging	Het
Mras	A	T	9: 99,394,484	L111Q	probably damaging	Het
Mrc1	A	G	2: 14,271,280	D475G	probably damaging	Het
Nrcam	T	C	12: 44,598,490	I1155T	probably damaging	Het
Ntrk1	A	G	3: 87,789,611		probably null	Het
Olfr58	G	A	9: 19,783,731	M199I	probably benign	Het
Olfr885	T	C	9: 38,062,001	I227T	probably damaging	Het
Parp9	A	T	16: 35,948,007	I186F	probably damaging	Het
Pcdhac2	T	A	18: 37,145,230	V421E	probably benign	Het
Pck1	T	A	2: 173,154,827	I178K	probably benign	Het
Pde6b	A	G	5: 108,430,703	K836E	probably benign	Het
Ptprd	T	A	4: 76,140,515		probably null	Het
Pwp2	A	G	10: 78,183,006	Y56H	probably benign	Het
Rarb	G	A	14: 16,432,085		probably benign	Het
Rpain	C	G	11: 70,970,921	H50Q	probably benign	Het
Rps9	CTGTTTG	CTG	7: 3,704,759		probably null	Het
Rubcn	A	T	16: 32,843,193	S358T	probably damaging	Het
Ryr2	G	A	13: 11,742,011	R1586C	probably damaging	Het
Slfn9	T	C	11: 82,981,904	I669V	probably benign	Het
Slx1b	T	C	7: 126,691,767		probably benign	Het
Spsb3	T	A	17: 24,887,511		probably benign	Het
Tbx15	A	G	3: 99,326,384	I288V	possibly damaging	Het
Tlr2	C	A	3: 83,837,332	E481D	probably damaging	Het
Trim17	A	T	11: 58,970,428	D253V	probably damaging	Het
Trim69	A	G	2: 122,178,746	D429G	probably damaging	Het
Vstm5	A	G	9: 15,257,794		probably null	Het
Vwa3b	A	G	1: 37,085,332	Q337R	probably benign	Het
Zfp113	T	C	5: 138,145,472	N172S	probably benign	Het
Zfp607a	T	A	7: 27,878,751	H415Q	probably damaging	Het
Zfp87	G	A	13: 67,517,899	T148I	probably benign	Het

Other mutations in Cngb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Cngb1	APN	8	95242184	splice site	probably benign
IGL01575:Cngb1	APN	8	95264520	missense	possibly damaging	0.51
IGL02329:Cngb1	APN	8	95242359	missense	probably benign	0.14
IGL03332:Cngb1	APN	8	95298846	splice site	probably benign
IGL03391:Cngb1	APN	8	95303705	unclassified	probably benign
stevie	UTSW	8	95260130	missense	probably damaging	1.00
swannie	UTSW	8	95297128	critical splice acceptor site	probably null
R0078:Cngb1	UTSW	8	95264545	critical splice acceptor site	probably null
R0116:Cngb1	UTSW	8	95260638	missense	probably damaging	1.00
R1073:Cngb1	UTSW	8	95303567	critical splice donor site	probably null
R1166:Cngb1	UTSW	8	95260181	missense	probably damaging	0.99
R1714:Cngb1	UTSW	8	95257931	missense	probably damaging	1.00
R1753:Cngb1	UTSW	8	95297773	critical splice donor site	probably benign
R1760:Cngb1	UTSW	8	95299700	missense	probably benign	0.03
R1833:Cngb1	UTSW	8	95242355	missense	probably damaging	1.00
R1935:Cngb1	UTSW	8	95299692	missense	probably damaging	1.00
R1939:Cngb1	UTSW	8	95299692	missense	probably damaging	1.00
R1940:Cngb1	UTSW	8	95299692	missense	probably damaging	1.00
R2045:Cngb1	UTSW	8	95297085	splice site	probably null
R2379:Cngb1	UTSW	8	95260130	missense	probably damaging	1.00
R2940:Cngb1	UTSW	8	95252107	missense	probably benign	0.44
R4034:Cngb1	UTSW	8	95264450	missense	possibly damaging	0.47
R4058:Cngb1	UTSW	8	95267654	missense	probably benign	0.00
R4425:Cngb1	UTSW	8	95299716	missense	probably damaging	1.00
R4585:Cngb1	UTSW	8	95297128	critical splice acceptor site	probably null
R4591:Cngb1	UTSW	8	95253384	missense	probably damaging	1.00
R4638:Cngb1	UTSW	8	95266019	missense	probably damaging	1.00
R4906:Cngb1	UTSW	8	95251973	missense	probably damaging	0.96
R4979:Cngb1	UTSW	8	95259157	missense	probably damaging	0.99
R5148:Cngb1	UTSW	8	95265983	missense	probably benign	0.28
R5474:Cngb1	UTSW	8	95251969	missense	probably damaging	1.00
R5475:Cngb1	UTSW	8	95251969	missense	probably damaging	1.00
R5545:Cngb1	UTSW	8	95252173	missense
R5585:Cngb1	UTSW	8	95263139	missense	probably damaging	1.00
R5637:Cngb1	UTSW	8	95257921	missense	probably damaging	1.00
R5785:Cngb1	UTSW	8	95254195	missense	possibly damaging	0.90
R5967:Cngb1	UTSW	8	95251906	missense	probably damaging	1.00
R6013:Cngb1	UTSW	8	95284321	unclassified	probably benign
R6049:Cngb1	UTSW	8	95270842	missense	probably damaging	0.99
R6370:Cngb1	UTSW	8	95264422	missense	probably benign	0.33
R6377:Cngb1	UTSW	8	95248980	missense	probably damaging	1.00
R6401:Cngb1	UTSW	8	95303739	unclassified	probably benign
R6427:Cngb1	UTSW	8	95297759	intron	probably benign
R6492:Cngb1	UTSW	8	95264424	missense	probably benign	0.01
R6613:Cngb1	UTSW	8	95266010	missense	possibly damaging	0.95
R6721:Cngb1	UTSW	8	95270888	missense	probably benign	0.05
R6919:Cngb1	UTSW	8	95248375	missense	probably null	1.00
R7012:Cngb1	UTSW	8	95257955	missense	possibly damaging	0.83
R7418:Cngb1	UTSW	8	95278259	nonsense	probably null
R7464:Cngb1	UTSW	8	95254183	missense	possibly damaging	0.92
R7806:Cngb1	UTSW	8	95298804	critical splice donor site	probably null
R8048:Cngb1	UTSW	8	95263210	missense	possibly damaging	0.90
R8074:Cngb1	UTSW	8	95252173	missense
R8189:Cngb1	UTSW	8	95303620	unclassified	probably benign
R8245:Cngb1	UTSW	8	95297780	missense	unknown
R8286:Cngb1	UTSW	8	95275624	missense
R8819:Cngb1	UTSW	8	95253409	critical splice acceptor site	probably null
R8906:Cngb1	UTSW	8	95263108	missense	probably damaging	1.00
R8979:Cngb1	UTSW	8	95278285	start gained	probably benign
R9075:Cngb1	UTSW	8	95253365	missense	probably damaging	1.00
R9131:Cngb1	UTSW	8	95253265	missense	probably benign	0.02
RF010:Cngb1	UTSW	8	95303650	frame shift	probably null
RF053:Cngb1	UTSW	8	95303648	frame shift	probably null
T0722:Cngb1	UTSW	8	95296650	missense	probably benign	0.02
T0722:Cngb1	UTSW	8	95297819	missense	probably damaging	0.99
T0722:Cngb1	UTSW	8	95303696	unclassified	probably benign
T0722:Cngb1	UTSW	8	95303714	unclassified	probably benign
Z1177:Cngb1	UTSW	8	95252136	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCACTGCTCAGAACCTGAAAAG -3'
(R):5'- TCATAGGAAATCAGCCCGAAAG -3'

Sequencing Primer
(F):5'- GAAAACAAACAAAGGGAATCTGTACC -3'
(R):5'- CAATTCTAGCCATGATGGTGCAC -3'

Posted On

2016-04-27