Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01969:Guca1a'

181630

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 #

IGL01969

Quality Score

Status

Chromosome

Chromosomal Location

47705483-47711509 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47711268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 26 (M26K)

Ref Sequence

ENSEMBL: ENSMUSP00000060027 (fasta)

Gene Model

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

AlphaFold

P43081

Predicted Effect

probably damaging
Transcript: ENSMUST00000059348
AA Change: M26K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060027
Gene: ENSMUSG00000023982
AA Change: M26K

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l1	C	A	8: 124,207,170 (GRCm39)	P74H	probably damaging	Het
Aire	T	A	10: 77,878,816 (GRCm39)	D77V	probably damaging	Het
Ank2	T	A	3: 126,746,872 (GRCm39)	H571L	possibly damaging	Het
Apol10b	T	C	15: 77,472,885 (GRCm39)		probably null	Het
Cacna2d2	A	T	9: 107,386,415 (GRCm39)	M181L	probably benign	Het
Ccnl1	T	C	3: 65,855,908 (GRCm39)		probably benign	Het
Chd9	A	G	8: 91,760,138 (GRCm39)	E1961G	possibly damaging	Het
Dnajc12	C	A	10: 63,231,609 (GRCm39)	H42N	probably damaging	Het
Eml4	T	C	17: 83,753,409 (GRCm39)	V248A	possibly damaging	Het
Epha10	A	C	4: 124,779,670 (GRCm39)	K172T	probably damaging	Het
Fat1	T	C	8: 45,405,636 (GRCm39)	Y796H	probably damaging	Het
Gpr176	A	C	2: 118,110,118 (GRCm39)	F380L	probably damaging	Het
Gucy2g	T	G	19: 55,215,870 (GRCm39)	M501L	probably benign	Het
Herc2	T	C	7: 55,835,579 (GRCm39)		probably benign	Het
Itgav	A	G	2: 83,633,627 (GRCm39)	E1028G	probably damaging	Het
Itpr1	A	G	6: 108,354,652 (GRCm39)	T179A	probably damaging	Het
Lpin2	A	G	17: 71,538,502 (GRCm39)	T383A	probably benign	Het
Midn	A	G	10: 79,991,093 (GRCm39)	T325A	probably benign	Het
Mpdz	A	G	4: 81,276,961 (GRCm39)	Y788H	probably damaging	Het
Muc1	A	T	3: 89,139,313 (GRCm39)	D571V	probably damaging	Het
Myo3a	A	T	2: 22,302,499 (GRCm39)	H316L	probably benign	Het
Nagpa	T	C	16: 5,013,753 (GRCm39)	K362E	probably benign	Het
Ola1	G	A	2: 72,930,490 (GRCm39)	A266V	probably benign	Het
Or1e33	T	C	11: 73,738,435 (GRCm39)	N172S	possibly damaging	Het
Or4a47	A	G	2: 89,666,064 (GRCm39)	I75T	probably benign	Het
Or5b97	C	A	19: 12,878,416 (GRCm39)	A243S	possibly damaging	Het
Otof	A	G	5: 30,539,827 (GRCm39)		probably benign	Het
Pi4ka	A	C	16: 17,196,347 (GRCm39)	V105G	probably benign	Het
Plppr4	G	T	3: 117,122,008 (GRCm39)	T190K	probably damaging	Het
Pnpla3	G	A	15: 84,063,425 (GRCm39)	A268T	probably benign	Het
Ppp6r2	C	T	15: 89,159,713 (GRCm39)	H467Y	probably damaging	Het
Prkd2	C	T	7: 16,599,682 (GRCm39)	T715M	probably damaging	Het
Rusc2	A	G	4: 43,415,738 (GRCm39)	N348S	probably benign	Het
Ska3	A	G	14: 58,049,119 (GRCm39)	V284A	probably benign	Het
Slc23a1	A	T	18: 35,757,807 (GRCm39)	V199D	possibly damaging	Het
Slc6a13	T	C	6: 121,312,601 (GRCm39)	L445P	probably damaging	Het
Smo	A	T	6: 29,755,171 (GRCm39)		probably null	Het
Tmem131	A	G	1: 36,864,541 (GRCm39)	L564S	possibly damaging	Het
Ttc23l	G	A	15: 10,551,520 (GRCm39)	Q69*	probably null	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
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

2014-05-07