Mutagenetix > Incidental Mutations

Incidental Mutation 'R1760:Cngb1'

192702

Institutional Source

Beutler Lab

Gene Symbol

Cngb1

Ensembl Gene

ENSMUSG00000031789

Gene Name

cyclic nucleotide gated channel beta 1

Synonyms

BC016201, Cngb1b, Cngb1

MMRRC Submission

039792-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1760 (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 95299700 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 151 (C151F)

Ref Sequence

ENSEMBL: ENSMUSP00000148290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093268] [ENSMUST00000119870] [ENSMUST00000133716] [ENSMUST00000134207] [ENSMUST00000156514]

Predicted Effect

probably benign
Transcript: ENSMUST00000093268
AA Change: C151F

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000090956
Gene: ENSMUSG00000031789
AA Change: C151F

Domain	Start	End	E-Value	Type
low complexity region	33	103	N/A	INTRINSIC
low complexity region	248	267	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000119870
AA Change: C151F

SMART Domains

Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: C151F

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 benign
Transcript: ENSMUST00000133716
AA Change: C151F

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000134207
AA Change: C151F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000156514
AA Change: C151F

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

unknown
Transcript: ENSMUST00000212237
AA Change: C30F

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

97% (95/98)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	A	4: 41,507,330		probably null	Het
2310035C23Rik	T	G	1: 105,719,444		probably benign	Het
Abca2	T	C	2: 25,443,043	S1585P	probably benign	Het
Abhd16b	T	C	2: 181,493,404	F33S	probably damaging	Het
Adgra2	G	A	8: 27,119,767	R856Q	probably damaging	Het
Aff3	A	T	1: 38,329,864		probably benign	Het
Anxa2	A	T	9: 69,489,767	Y251F	probably benign	Het
Arid1b	A	G	17: 5,341,813	T1873A	probably damaging	Het
Baz1b	C	A	5: 135,242,524	D1320E	probably benign	Het
Bbs1	A	T	19: 4,894,322	S426R	probably benign	Het
Bid	A	G	6: 120,900,248	V44A	possibly damaging	Het
Ccdc60	T	A	5: 116,172,473	M177L	probably damaging	Het
Cdh23	G	A	10: 60,326,076	T1997M	probably damaging	Het
Cdh5	T	A	8: 104,128,169	M243K	probably benign	Het
Clpb	T	A	7: 101,786,698	V578E	possibly damaging	Het
Cntnap5b	T	C	1: 99,772,810	S16P	probably benign	Het
Cr1l	T	A	1: 195,114,815	M305L	probably benign	Het
Ctnnal1	A	T	4: 56,838,988	M235K	probably damaging	Het
Ddx55	A	T	5: 124,568,113	R534W	probably damaging	Het
Dip2b	T	A	15: 100,212,029	L1465Q	probably damaging	Het
Dnah9	G	T	11: 65,981,222	D2727E	probably benign	Het
Dph3b-ps	A	C	13: 106,546,989		noncoding transcript	Het
Dst	T	A	1: 34,228,603	L2702Q	probably damaging	Het
Efnb2	T	C	8: 8,623,184	T158A	possibly damaging	Het
Exosc10	A	T	4: 148,578,469	K712*	probably null	Het
Fgr	T	C	4: 132,998,342	V354A	possibly damaging	Het
Fsip2	G	A	2: 82,984,896	V3658M	probably benign	Het
Fsip2	A	T	2: 82,987,711	H4596L	possibly damaging	Het
Fsip2	A	G	2: 82,999,841	D6893G	possibly damaging	Het
Gm1527	G	A	3: 28,895,550		probably benign	Het
Gm5150	G	T	3: 16,006,304	Q7K	probably benign	Het
Gpr155	C	T	2: 73,381,935	V115M	probably damaging	Het
Gpr75	T	C	11: 30,891,527	L144P	probably damaging	Het
Gsn	T	A	2: 35,284,823	Y127N	probably damaging	Het
Hk1	A	G	10: 62,281,899	L615S	probably damaging	Het
Igsf9b	A	G	9: 27,317,827	T194A	possibly damaging	Het
Il17rd	C	T	14: 27,091,806	Q46*	probably null	Het
Jak1	T	A	4: 101,162,929	M678L	probably benign	Het
Kif6	T	C	17: 49,615,283	V16A	probably benign	Het
Kpna3	T	C	14: 61,370,541	E405G	probably benign	Het
Lmtk2	C	A	5: 144,174,175	T571K	probably damaging	Het
Mucl2	T	C	15: 103,897,572	T40A	possibly damaging	Het
Myh11	G	A	16: 14,233,695		probably benign	Het
Myh7	C	T	14: 54,972,713	R1845Q	probably damaging	Het
Myo1f	T	A	17: 33,586,198	L480Q	probably benign	Het
Nek9	T	G	12: 85,305,590	D833A	possibly damaging	Het
Nek9	T	C	12: 85,310,410	E660G	probably benign	Het
Olfr186	T	C	16: 59,026,987	R307G	probably benign	Het
Olfr315	A	G	11: 58,778,369	M81V	possibly damaging	Het
Olfr419	C	T	1: 174,250,360	C189Y	probably damaging	Het
Olfr446	A	G	6: 42,927,497	I89V	possibly damaging	Het
Olfr523	G	A	7: 140,176,275	V52M	probably damaging	Het
Olfr808	T	A	10: 129,767,548	D17E	probably benign	Het
Olfr831-ps1	T	A	9: 18,932,495		probably benign	Het
Otud3	G	T	4: 138,895,781	T383K	possibly damaging	Het
Pkp4	T	C	2: 59,311,841	L496P	probably damaging	Het
Pla2g4e	C	A	2: 120,170,046	A737S	possibly damaging	Het
Pla2g4f	T	C	2: 120,314,066		probably benign	Het
Plxnd1	A	T	6: 115,967,779	V1018E	possibly damaging	Het
Ppp1r21	T	G	17: 88,562,225	V402G	possibly damaging	Het
Prkcq	T	G	2: 11,300,070	M690R	probably damaging	Het
Ptpra	T	C	2: 130,549,827	I719T	probably damaging	Het
Rab3ip	C	T	10: 116,937,510	D133N	probably damaging	Het
Rsbn1	T	A	3: 103,960,031	Y563N	probably damaging	Het
Rtf1	A	C	2: 119,728,408	D530A	probably benign	Het
Rybp	G	T	6: 100,232,263	S199R	probably benign	Het
Sema5a	T	G	15: 32,641,106	C689G	probably damaging	Het
Senp6	T	A	9: 80,118,629	V314E	probably benign	Het
Setd1a	T	A	7: 127,785,890	C47S	possibly damaging	Het
Slamf1	C	A	1: 171,777,166	T168K	probably benign	Het
Slc12a5	T	C	2: 164,996,128	S937P	probably damaging	Het
Slc38a11	C	T	2: 65,355,319		probably null	Het
Slc6a2	C	T	8: 92,961,218		probably benign	Het
Snw1	A	T	12: 87,464,689	F64Y	probably benign	Het
Spata9	A	C	13: 75,998,524	I172L	probably benign	Het
Sphkap	T	C	1: 83,277,544	H828R	probably benign	Het
Tmem94	A	T	11: 115,796,754	K1146N	probably damaging	Het
Trdn	A	G	10: 33,233,887	T294A	possibly damaging	Het
Tsc22d1	T	C	14: 76,416,948	V289A	possibly damaging	Het
Tti1	C	A	2: 157,993,035	V1002L	possibly damaging	Het
Tubgcp4	T	A	2: 121,189,471		probably null	Het
Ush2a	G	A	1: 188,910,983	E4181K	possibly damaging	Het
Uvrag	A	G	7: 98,888,348	S547P	probably benign	Het
Vav3	T	C	3: 109,341,127	V30A	possibly damaging	Het
Vegfa	A	G	17: 46,025,469	Y242H	probably damaging	Het
Vmn2r75	G	T	7: 86,148,811	T598K	probably damaging	Het
Vps13b	C	T	15: 35,884,619	S3146L	possibly damaging	Het
Vrk3	A	G	7: 44,768,471	Y310C	probably damaging	Het
Zfhx4	A	G	3: 5,382,616	K1100R	probably benign	Het
Zfp748	T	A	13: 67,545,421		probably null	Het
Zfp760	A	T	17: 21,722,330	D162V	probably damaging	Het
Znfx1	T	A	2: 167,039,866	M1068L	probably damaging	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
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
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
R4950:Cngb1	UTSW	8	95248507	missense	probably damaging	1.00
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
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'- GACAGACAGACATTACAGGGCATCC -3'
(R):5'- CAAAGGTCTCTCTGGCATCCTTGG -3'

Sequencing Primer
(F):5'- caTTACAGGGCATCCCAGGAG -3'
(R):5'- TTAGAGTCTCATCATGTGGAGATAG -3'

Posted On

2014-05-23