Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01138:Guca1a'

53117

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Guca1a

Ensembl Gene

ENSMUSG00000023982

Gene Name

guanylate cyclase activator 1a (retina)

Synonyms

mGCAP1, Guca1

Accession Numbers

Essential gene?

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

Stock #

IGL01138

Quality Score

Status

Chromosome

Chromosomal Location

47705483-47711509 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 47711309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 12 (E12D)

Ref Sequence

ENSEMBL: ENSMUSP00000060027 (fasta)

Gene Model

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

AlphaFold

P43081

Predicted Effect

probably damaging
Transcript: ENSMUST00000059348
AA Change: E12D

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

SMART Domains

Protein: ENSMUSP00000060027
Gene: ENSMUSG00000023982
AA Change: E12D

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

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	G	13: 61,002,673 (GRCm39)	V27A	probably benign	Het
Abcg5	T	A	17: 84,972,275 (GRCm39)	R499S	possibly damaging	Het
Adamts13	T	C	2: 26,873,054 (GRCm39)	S341P	probably damaging	Het
Adgrg1	T	A	8: 95,730,085 (GRCm39)	C96S	probably damaging	Het
Arhgap44	A	G	11: 64,932,275 (GRCm39)	F215S	probably damaging	Het
Arhgef25	A	G	10: 127,020,039 (GRCm39)	F400L	probably damaging	Het
Baz1a	T	C	12: 54,977,110 (GRCm39)	E384G	probably damaging	Het
Col12a1	T	C	9: 79,585,335 (GRCm39)	D1314G	probably damaging	Het
Col6a3	T	A	1: 90,735,232 (GRCm39)	I806F	probably damaging	Het
Coro1c	G	A	5: 113,990,222 (GRCm39)		probably benign	Het
Dnmt3b	A	T	2: 153,503,361 (GRCm39)	D4V	probably benign	Het
Ermn	G	T	2: 57,942,707 (GRCm39)	L8M	possibly damaging	Het
F13b	T	A	1: 139,444,950 (GRCm39)	N533K	probably damaging	Het
Fam171a1	T	C	2: 3,203,657 (GRCm39)	V93A	possibly damaging	Het
Gpr107	T	A	2: 31,062,028 (GRCm39)	L152Q	probably benign	Het
Igtp	A	G	11: 58,096,970 (GRCm39)	N47S	possibly damaging	Het
Lratd2	T	A	15: 60,694,967 (GRCm39)	I260F	probably damaging	Het
Lrrc8e	A	G	8: 4,284,084 (GRCm39)	N103S	probably damaging	Het
Lsmem1	A	G	12: 40,230,698 (GRCm39)	L68P	probably damaging	Het
Maml3	A	G	3: 51,597,979 (GRCm39)	S902P	possibly damaging	Het
Mkln1	A	T	6: 31,409,925 (GRCm39)	N188Y	probably damaging	Het
Mlxip	C	T	5: 123,588,219 (GRCm39)	R771W	probably damaging	Het
Myf6	T	C	10: 107,330,259 (GRCm39)	R103G	probably damaging	Het
Ncam2	T	A	16: 81,314,467 (GRCm39)	I481K	probably damaging	Het
Nrap	T	A	19: 56,343,970 (GRCm39)	S645C	probably damaging	Het
Nup205	G	T	6: 35,185,019 (GRCm39)	E813*	probably null	Het
Or13c7c	A	G	4: 43,835,617 (GRCm39)	L291P	probably damaging	Het
Plekhg5	C	T	4: 152,191,435 (GRCm39)	R410W	probably damaging	Het
Pnma8b	C	A	7: 16,679,088 (GRCm39)	T24K	unknown	Het
Polq	A	T	16: 36,866,231 (GRCm39)	Y476F	possibly damaging	Het
Prkd2	T	C	7: 16,582,736 (GRCm39)	S200P	probably damaging	Het
Rif1	C	A	2: 52,001,534 (GRCm39)	L1663I	probably damaging	Het
Serpina5	A	G	12: 104,070,003 (GRCm39)	Y300C	possibly damaging	Het
Shroom4	T	C	X: 6,497,257 (GRCm39)	S806P	probably damaging	Het
Sirpa	T	C	2: 129,472,085 (GRCm39)	V290A	probably damaging	Het
Slc25a47	C	T	12: 108,821,948 (GRCm39)	R246C	probably damaging	Het
Slc9a6	A	G	X: 55,668,791 (GRCm39)	D199G	probably damaging	Het
Smarca5	T	A	8: 81,427,705 (GRCm39)	K1048M	possibly damaging	Het
Sos2	C	T	12: 69,663,623 (GRCm39)		probably benign	Het
Trpm5	T	A	7: 142,628,306 (GRCm39)	M990L	probably benign	Het
Vmn2r99	A	T	17: 19,602,885 (GRCm39)	T547S	probably damaging	Het
Vps13b	T	C	15: 35,446,916 (GRCm39)		probably benign	Het
Zfp994	G	A	17: 22,421,649 (GRCm39)		probably benign	Het

Other mutations in Guca1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5433:Guca1a	UTSW	17	47,711,295 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2013-06-21