Mutagenetix > Incidental Mutation

Incidental Mutation 'R5433:Guca1a'

428173

Institutional Source

Beutler Lab

Gene Symbol

Guca1a

Ensembl Gene

ENSMUSG00000023982

Gene Name

guanylate cyclase activator 1a (retina)

Synonyms

mGCAP1, Guca1

MMRRC Submission

042998-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R5433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47705483-47711509 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47711295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 17 (E17G)

Ref Sequence

ENSEMBL: ENSMUSP00000060027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059348]

AlphaFold

P43081

Predicted Effect

probably damaging
Transcript: ENSMUST00000059348
AA Change: E17G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060027
Gene: ENSMUSG00000023982
AA Change: E17G

Domain	Start	End	E-Value	Type
EFh	55	83	3.01e-5	SMART
EFh	91	119	2.44e-5	SMART
EFh	135	163	5.83e-3	SMART
low complexity region	166	177	N/A	INTRINSIC

Meta Mutation Damage Score

0.8378

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: This gene encodes a calcium-binding photoreceptor protein. The encoded protein may be involved in modulation of guanylyl cyclase activity, and in turn, the mammalian cone phototransduction cascade. Disruption of this gene results in the retinal degeneration associated with cone dystrophy. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice heterozygous or homozygous for a knock-in allele exhibit photoreceptor degeneration and loss of cone and rod function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,657 (GRCm39)	S24G	probably damaging	Het
1810064F22Rik	A	G	9: 22,119,039 (GRCm39)		noncoding transcript	Het
Aacs	A	T	5: 125,592,078 (GRCm39)	M589L	probably benign	Het
Adamts8	A	C	9: 30,873,012 (GRCm39)	H739P	probably benign	Het
Atp8b2	T	C	3: 89,860,216 (GRCm39)		probably benign	Het
BC030500	A	G	8: 59,366,043 (GRCm39)		probably benign	Het
Btnl9	T	A	11: 49,066,830 (GRCm39)		probably benign	Het
Cd74	G	T	18: 60,940,993 (GRCm39)	A31S	probably benign	Het
Ceacam3	G	A	7: 16,893,808 (GRCm39)	A440T	possibly damaging	Het
Ces1d	G	A	8: 93,912,664 (GRCm39)	T258I	probably benign	Het
Col10a1	A	G	10: 34,266,735 (GRCm39)		probably benign	Het
Coro1b	C	T	19: 4,203,449 (GRCm39)	A430V	probably benign	Het
Cyp2c65	A	T	19: 39,081,928 (GRCm39)	I485L	probably benign	Het
Dio1	A	T	4: 107,163,977 (GRCm39)		probably benign	Het
Dmxl1	G	A	18: 50,000,966 (GRCm39)		probably null	Het
Dynlt5	A	G	4: 102,859,700 (GRCm39)	E84G	possibly damaging	Het
Elp6	A	G	9: 110,144,851 (GRCm39)	Y136C	probably damaging	Het
Gon4l	A	T	3: 88,803,532 (GRCm39)	Q1382L	possibly damaging	Het
Gucy2d	G	A	7: 98,098,982 (GRCm39)	G267E	probably damaging	Het
Gvin3	T	A	7: 106,199,314 (GRCm39)		noncoding transcript	Het
Hspg2	T	A	4: 137,256,105 (GRCm39)		probably null	Het
Il1a	G	T	2: 129,149,821 (GRCm39)	D26E	possibly damaging	Het
Il22b	T	A	10: 118,130,789 (GRCm39)	I36F	probably damaging	Het
Kcna1	A	T	6: 126,620,075 (GRCm39)	F82I	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Lamtor5	T	G	3: 107,189,323 (GRCm39)	C120G	probably benign	Het
Lars1	A	G	18: 42,384,363 (GRCm39)	C72R	possibly damaging	Het
Lrrfip1	T	G	1: 91,014,848 (GRCm39)		probably null	Het
Mapkapk3	T	C	9: 107,133,491 (GRCm39)	D349G	probably damaging	Het
Mknk2	A	T	10: 80,503,059 (GRCm39)	I421N	probably benign	Het
Myh6	A	G	14: 55,191,381 (GRCm39)	I820T	probably benign	Het
Notch2	T	G	3: 98,033,450 (GRCm39)	V1182G	probably damaging	Het
Or1af1	T	G	2: 37,109,684 (GRCm39)	F61C	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2z2	C	T	11: 58,346,680 (GRCm39)	V32M	probably damaging	Het
Ppfia4	A	T	1: 134,245,632 (GRCm39)	S641T	probably damaging	Het
Prok1	T	A	3: 107,146,949 (GRCm39)	H6L	probably benign	Het
Ptprm	A	T	17: 67,000,468 (GRCm39)	V1172E	probably damaging	Het
Rasal3	C	T	17: 32,612,575 (GRCm39)	R762Q	probably benign	Het
Rgs20	G	T	1: 5,140,333 (GRCm39)	A23E	possibly damaging	Het
Rprd1a	T	C	18: 24,640,288 (GRCm39)	T163A	probably benign	Het
Rrm1	A	T	7: 102,114,974 (GRCm39)	N37I	probably damaging	Het
Shc4	T	A	2: 125,481,350 (GRCm39)	E520V	probably damaging	Het
Slc14a2	G	T	18: 78,252,143 (GRCm39)	P56Q	probably damaging	Het
Slc22a3	C	T	17: 12,677,377 (GRCm39)	G264S	probably damaging	Het
Svil	A	G	18: 5,059,294 (GRCm39)	E770G	probably damaging	Het
Svop	A	G	5: 114,198,186 (GRCm39)	V129A	probably damaging	Het
Szt2	A	T	4: 118,232,663 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,951,105 (GRCm39)		probably benign	Het
Tmem30a	T	A	9: 79,687,930 (GRCm39)	I80F	probably damaging	Het
Vmn2r16	G	T	5: 109,511,708 (GRCm39)	L638F	probably damaging	Het
Xkr7	T	A	2: 152,896,244 (GRCm39)	I366N	probably damaging	Het
Zer1	A	G	2: 29,990,998 (GRCm39)		probably benign	Het

Other mutations in Guca1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Guca1a	APN	17	47,711,309 (GRCm39)	missense	probably damaging	0.99
IGL01684:Guca1a	APN	17	47,706,068 (GRCm39)	missense	probably null	0.83
IGL01969:Guca1a	APN	17	47,711,268 (GRCm39)	missense	probably damaging	0.99
IGL02441:Guca1a	APN	17	47,705,578 (GRCm39)	unclassified	probably benign
IGL03273:Guca1a	APN	17	47,706,098 (GRCm39)	missense	probably benign	0.00
R1216:Guca1a	UTSW	17	47,706,637 (GRCm39)	unclassified	probably benign
R1666:Guca1a	UTSW	17	47,711,167 (GRCm39)	missense	probably damaging	1.00
R4849:Guca1a	UTSW	17	47,705,662 (GRCm39)	missense	possibly damaging	0.82
R6996:Guca1a	UTSW	17	47,706,102 (GRCm39)	missense	probably benign	0.05
R8419:Guca1a	UTSW	17	47,706,480 (GRCm39)	missense	probably damaging	1.00
R9520:Guca1a	UTSW	17	47,711,335 (GRCm39)	missense	probably benign	0.12
Z1088:Guca1a	UTSW	17	47,711,335 (GRCm39)	missense	probably benign
Z1176:Guca1a	UTSW	17	47,711,335 (GRCm39)	missense	probably benign
Z1177:Guca1a	UTSW	17	47,711,335 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTCTGGCTTCTCGAGGTATCC -3'
(R):5'- TTTAGTCCGACTCACAGGGC -3'

Sequencing Primer
(F):5'- TCTCGAGGTATCCCCCAAGAATTATG -3'
(R):5'- CGACTCACAGGGCTGTCTTTG -3'

Posted On

2016-09-01