Mutagenetix > Incidental Mutation

Incidental Mutation 'R6996:Guca1a'

544249

Institutional Source

Beutler Lab

Gene Symbol

Guca1a

Ensembl Gene

ENSMUSG00000023982

Gene Name

guanylate cyclase activator 1a (retina)

Synonyms

mGCAP1, Guca1

MMRRC Submission

045102-MU

Accession Numbers

Essential gene?

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

Stock #

R6996 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47705483-47711509 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47706102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 126 (S126G)

Ref Sequence

ENSEMBL: ENSMUSP00000060027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024774] [ENSMUST00000059348] [ENSMUST00000145462]

AlphaFold

P43081

Predicted Effect

probably benign
Transcript: ENSMUST00000024774

SMART Domains

Protein: ENSMUSP00000024774
Gene: ENSMUSG00000023979

Domain	Start	End	E-Value	Type
EFh	57	85	6.35e-4	SMART
EFh	93	121	3.65e-4	SMART
EFh	146	174	5.83e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000059348
AA Change: S126G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000060027
Gene: ENSMUSG00000023982
AA Change: S126G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145462

SMART Domains

Protein: ENSMUSP00000126799
Gene: ENSMUSG00000023979

Domain	Start	End	E-Value	Type
EFh	57	85	6.35e-4	SMART
EFh	93	121	3.65e-4	SMART
low complexity region	180	190	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	A	8: 25,296,517 (GRCm39)	S310L	probably damaging	Het
Adamts16	C	T	13: 70,946,157 (GRCm39)		probably null	Het
Arrb1	C	A	7: 99,240,569 (GRCm39)	D194E	probably benign	Het
Atp1a3	T	C	7: 24,697,051 (GRCm39)	D217G	probably damaging	Het
Bcar3	A	G	3: 122,302,033 (GRCm39)	I123V	possibly damaging	Het
Bdp1	G	A	13: 100,180,321 (GRCm39)	L1833F	probably damaging	Het
Cdc14a	T	C	3: 116,122,355 (GRCm39)	Y155C	probably damaging	Het
Cdo1	C	A	18: 46,853,380 (GRCm39)	R126M	possibly damaging	Het
Cfap99	G	T	5: 34,484,604 (GRCm39)	R627L	probably damaging	Het
Efr3a	T	A	15: 65,720,030 (GRCm39)	L369*	probably null	Het
Erich6	A	C	3: 58,543,516 (GRCm39)	F185V	probably damaging	Het
Fam186a	T	C	15: 99,853,374 (GRCm39)	D122G	unknown	Het
Fank1	A	G	7: 133,478,627 (GRCm39)	I230M	possibly damaging	Het
Flg2	A	T	3: 93,109,977 (GRCm39)	E668D	unknown	Het
Flg2	A	C	3: 93,110,256 (GRCm39)	R761S	unknown	Het
Gabrr1	T	C	4: 33,158,157 (GRCm39)	L260P	probably damaging	Het
Gfm2	G	A	13: 97,285,868 (GRCm39)	R119K	probably damaging	Het
Gm14226	A	G	2: 154,866,357 (GRCm39)	T105A	probably benign	Het
Gm14496	A	G	2: 181,637,997 (GRCm39)	N357S	probably damaging	Het
Gm5916	G	A	9: 36,039,935 (GRCm39)	L18F	probably benign	Het
Golm1	A	T	13: 59,790,058 (GRCm39)	N247K	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Greb1	C	T	12: 16,773,355 (GRCm39)	A240T	probably benign	Het
Gtf3c6	T	C	10: 40,125,774 (GRCm39)	M148V	probably benign	Het
Hacl1	A	T	14: 31,337,380 (GRCm39)	I393N	possibly damaging	Het
Hddc3	A	G	7: 79,993,498 (GRCm39)	D68G	possibly damaging	Het
Hsfy2	T	C	1: 56,675,569 (GRCm39)	T323A	possibly damaging	Het
Kcng2	T	C	18: 80,366,358 (GRCm39)		probably benign	Het
Kdm2a	G	T	19: 4,395,669 (GRCm39)	P321T	probably benign	Het
Krt31	A	G	11: 99,938,558 (GRCm39)	V345A	probably benign	Het
Lrrc37	A	T	11: 103,509,583 (GRCm39)	L795*	probably null	Het
Mettl1	T	C	10: 126,880,887 (GRCm39)	S193P	probably benign	Het
Mme	G	A	3: 63,253,523 (GRCm39)	D456N	possibly damaging	Het
Mmrn1	A	G	6: 60,954,367 (GRCm39)	T883A	probably benign	Het
Mphosph10	C	G	7: 64,038,669 (GRCm39)	E293Q	probably benign	Het
Muc16	C	A	9: 18,557,193 (GRCm39)	K3033N	unknown	Het
Myo16	C	T	8: 10,619,496 (GRCm39)	T1349M	probably damaging	Het
Myo5c	T	C	9: 75,157,746 (GRCm39)	I233T	probably benign	Het
Or4p4b-ps1	A	G	2: 88,454,189 (GRCm39)	T181A	unknown	Het
Or52a33	T	G	7: 103,289,065 (GRCm39)	N94T	probably benign	Het
Or52ac1	A	T	7: 104,246,018 (GRCm39)	F123L	probably benign	Het
Or5b111	A	T	19: 13,291,036 (GRCm39)	S204R	probably benign	Het
Or5h22	A	G	16: 58,894,555 (GRCm39)	M296T	probably benign	Het
Or6c2	T	A	10: 129,362,732 (GRCm39)	V212E	probably damaging	Het
Or7c70	C	A	10: 78,683,351 (GRCm39)	V133L	probably benign	Het
Oxct2b	A	G	4: 123,011,480 (GRCm39)	I467V	probably benign	Het
Parp1	A	T	1: 180,414,936 (GRCm39)	N425Y	possibly damaging	Het
Pcdhgc3	T	A	18: 37,939,656 (GRCm39)	V19D	possibly damaging	Het
Pfkl	T	A	10: 77,833,423 (GRCm39)	I260F	probably damaging	Het
Pkd1l1	C	T	11: 8,799,046 (GRCm39)	G1789R	probably damaging	Het
Pla1a	G	A	16: 38,217,830 (GRCm39)	A386V	probably benign	Het
Pml	A	G	9: 58,142,169 (GRCm39)	L221P	probably damaging	Het
Rcn2	C	T	9: 55,964,845 (GRCm39)	Q268*	probably null	Het
Reps1	T	A	10: 17,969,603 (GRCm39)	D235E	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sap30bp	A	G	11: 115,824,314 (GRCm39)		probably benign	Het
Scn1a	A	T	2: 66,118,075 (GRCm39)	S1433T	probably damaging	Het
Sde2	T	C	1: 180,678,754 (GRCm39)	V6A	probably benign	Het
Sdk1	C	A	5: 142,197,769 (GRCm39)	R2141S	probably benign	Het
Setd2	T	C	9: 110,379,640 (GRCm39)	S1152P	probably damaging	Het
Slc26a2	C	T	18: 61,334,926 (GRCm39)	V176I	probably damaging	Het
Snx7	A	G	3: 117,640,281 (GRCm39)	I76T	possibly damaging	Het
Specc1l	C	A	10: 75,082,113 (GRCm39)	A520D	probably benign	Het
Spop	A	G	11: 95,362,136 (GRCm39)	T56A	possibly damaging	Het
Syne2	T	A	12: 76,074,786 (GRCm39)	D4576E	probably damaging	Het
Tas2r134	A	C	2: 51,517,601 (GRCm39)	M27L	probably benign	Het
Tecta	A	C	9: 42,278,082 (GRCm39)	I1142S	probably benign	Het
Timm44	T	C	8: 4,316,611 (GRCm39)	D311G	possibly damaging	Het
Tmem123	C	G	9: 7,791,071 (GRCm39)	T124R	possibly damaging	Het
Tmem184b	A	T	15: 79,246,959 (GRCm39)	L370Q	probably benign	Het
Trim25	T	A	11: 88,890,329 (GRCm39)	N5K	probably benign	Het
Vmn2r93	A	G	17: 18,524,903 (GRCm39)	Y187C	probably damaging	Het
Vpreb1a	A	G	16: 16,686,678 (GRCm39)	Y71H	probably damaging	Het
Vpreb1b	T	C	16: 17,798,441 (GRCm39)	S5P	probably benign	Het
Xpo7	A	T	14: 70,906,888 (GRCm39)	C939S	probably benign	Het
Zfp78	C	A	7: 6,381,764 (GRCm39)	S271R	probably benign	Het
Zic5	A	T	14: 122,702,080 (GRCm39)	M217K	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
R5433:Guca1a	UTSW	17	47,711,295 (GRCm39)	missense	probably damaging	0.99
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'- CTGCATCCAGAGCAAAGGTG -3'
(R):5'- GCCCATACTGACTACTGACCTC -3'

Sequencing Primer
(F):5'- CATCCAGAGCAAAGGTGGGTAG -3'
(R):5'- GACTACTGACCTCGAGTTTGAGAC -3'

Posted On

2019-05-13