Mutagenetix > Incidental Mutation

Incidental Mutation 'R0729:Crx'

67382

Institutional Source

Beutler Lab

Gene Symbol

Crx

Ensembl Gene

ENSMUSG00000041578

Gene Name

cone-rod homeobox

Synonyms

Crx1

MMRRC Submission

038910-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.375) question?

Stock #

R0729 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

15599872-15613880 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 15605058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044434] [ENSMUST00000132563] [ENSMUST00000172758] [ENSMUST00000174318]

AlphaFold

O54751

Predicted Effect

probably benign
Transcript: ENSMUST00000044434

SMART Domains

Protein: ENSMUSP00000043436
Gene: ENSMUSG00000041578

Domain	Start	End	E-Value	Type
HOX	39	101	2.39e-24	SMART
low complexity region	139	153	N/A	INTRINSIC
Pfam:TF_Otx	164	250	1.1e-15	PFAM
internal_repeat_1	260	278	1.41e-5	PROSPERO
internal_repeat_1	279	296	1.41e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000132563

SMART Domains

Protein: ENSMUSP00000133833
Gene: ENSMUSG00000041578

Domain	Start	End	E-Value	Type
HOX	39	101	2.39e-24	SMART
low complexity region	139	153	N/A	INTRINSIC
low complexity region	196	207	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165905

SMART Domains

Protein: ENSMUSP00000126642
Gene: ENSMUSG00000041578

Domain	Start	End	E-Value	Type
HOX	63	125	2.39e-24	SMART
low complexity region	163	177	N/A	INTRINSIC
Pfam:TF_Otx	188	273	1.9e-17	PFAM
internal_repeat_1	284	302	2.45e-5	PROSPERO
internal_repeat_1	303	320	2.45e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000172758

SMART Domains

Protein: ENSMUSP00000134463
Gene: ENSMUSG00000041578

Domain	Start	End	E-Value	Type
HOX	39	74	6.07e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174318

SMART Domains

Protein: ENSMUSP00000134400
Gene: ENSMUSG00000041578

Domain	Start	End	E-Value	Type
HOX	39	101	2.39e-24	SMART
low complexity region	139	153	N/A	INTRINSIC
Pfam:TF_Otx	164	250	1.1e-15	PFAM
internal_repeat_1	260	278	1.41e-5	PROSPERO
internal_repeat_1	279	296	1.41e-5	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174358

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.0%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a lack of photoreceptor outer segments and rod and cone activity, reduced expression of several photoreceptor- and pineal-specific genes, and altered circadian behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	A	11: 72,050,281 (GRCm39)	A828S	probably benign	Het
Acsm3	T	C	7: 119,383,207 (GRCm39)		probably benign	Het
Adamts12	G	A	15: 11,255,769 (GRCm39)	R446H	possibly damaging	Het
Adgrb1	A	G	15: 74,420,398 (GRCm39)	N849S	probably damaging	Het
Ankra2	A	G	13: 98,408,235 (GRCm39)	D228G	probably damaging	Het
Bicd1	T	C	6: 149,414,412 (GRCm39)	V375A	probably damaging	Het
Blvrb	A	G	7: 27,147,555 (GRCm39)	K5E	possibly damaging	Het
Cacna2d2	A	G	9: 107,394,456 (GRCm39)	N573D	probably benign	Het
Calhm2	C	A	19: 47,121,356 (GRCm39)	G271V	possibly damaging	Het
Capn13	C	T	17: 73,629,064 (GRCm39)	G581E	probably damaging	Het
Capzb	T	C	4: 139,016,288 (GRCm39)		probably benign	Het
Casd1	T	C	6: 4,619,753 (GRCm39)		probably benign	Het
Clca4b	A	G	3: 144,634,111 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyp2c68	T	C	19: 39,727,994 (GRCm39)		probably benign	Het
Dcaf8	T	A	1: 172,000,221 (GRCm39)	D126E	probably benign	Het
Ddx31	T	C	2: 28,764,186 (GRCm39)	I464T	probably damaging	Het
Dhx32	G	A	7: 133,339,150 (GRCm39)	T155I	probably benign	Het
Elac2	C	A	11: 64,889,349 (GRCm39)	P567T	possibly damaging	Het
Fat4	A	G	3: 39,054,444 (GRCm39)		probably benign	Het
Fh1	T	G	1: 175,442,383 (GRCm39)	N156H	probably damaging	Het
Gm10064	T	C	5: 122,835,584 (GRCm39)		noncoding transcript	Het
Gm14137	A	G	2: 119,005,834 (GRCm39)	E131G	probably benign	Het
Gpr22	T	A	12: 31,759,312 (GRCm39)	K233M	probably damaging	Het
Gpr63	A	G	4: 25,007,480 (GRCm39)	N68S	probably benign	Het
Gypa	C	T	8: 81,223,421 (GRCm39)	P66S	unknown	Het
Htr2a	A	T	14: 74,879,587 (GRCm39)	Q72L	probably benign	Het
Klhdc7b	C	T	15: 89,271,598 (GRCm39)	R827*	probably null	Het
Leo1	G	A	9: 75,364,420 (GRCm39)	R520Q	possibly damaging	Het
Lrrc66	T	C	5: 73,765,757 (GRCm39)	M429V	probably benign	Het
Lrrc74a	C	T	12: 86,792,353 (GRCm39)	Q225*	probably null	Het
Mamdc4	T	A	2: 25,460,048 (GRCm39)	N68Y	probably damaging	Het
Map3k10	G	A	7: 27,360,992 (GRCm39)	P507L	probably damaging	Het
Methig1	T	A	15: 100,272,870 (GRCm39)	C68S	probably benign	Het
Metrn	C	T	17: 26,015,202 (GRCm39)		probably benign	Het
Mmp12	C	T	9: 7,358,290 (GRCm39)	T392I	possibly damaging	Het
Mss51	A	T	14: 20,533,160 (GRCm39)	I437N	probably damaging	Het
Mtus2	A	G	5: 148,014,097 (GRCm39)	T297A	probably benign	Het
Myo10	T	C	15: 25,722,243 (GRCm39)		probably benign	Het
Ncoa7	G	A	10: 30,567,575 (GRCm39)	P319S	probably benign	Het
Nlrp4d	A	T	7: 10,111,612 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,923,535 (GRCm39)	S6455P	probably damaging	Het
Or5b97	T	C	19: 12,878,259 (GRCm39)	N295S	probably damaging	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Pcdh12	A	G	18: 38,415,517 (GRCm39)	I536T	probably benign	Het
Pex5l	G	T	3: 33,008,685 (GRCm39)		probably benign	Het
Pla2g2e	A	C	4: 138,608,046 (GRCm39)	K43Q	possibly damaging	Het
Rasa4	T	C	5: 136,130,924 (GRCm39)		probably benign	Het
Rsf1	C	T	7: 97,328,234 (GRCm39)	R1079W	probably damaging	Het
Sez6	A	G	11: 77,867,411 (GRCm39)	T803A	probably benign	Het
Shcbp1	T	A	8: 4,786,297 (GRCm39)	N602Y	probably benign	Het
Slc16a13	G	A	11: 70,109,857 (GRCm39)	P215S	probably damaging	Het
Slc39a6	T	C	18: 24,734,527 (GRCm39)	Q54R	probably benign	Het
Smg1	C	A	7: 117,745,512 (GRCm39)		probably benign	Het
Spg7	A	G	8: 123,797,156 (GRCm39)	N110D	probably damaging	Het
Sptbn1	A	T	11: 30,060,902 (GRCm39)	S2010T	probably damaging	Het
Sun1	T	A	5: 139,223,619 (GRCm39)		probably benign	Het
Sytl5	A	G	X: 9,860,736 (GRCm39)	E717G	probably damaging	Het
Tle1	A	T	4: 72,044,679 (GRCm39)		probably benign	Het
Tm9sf4	T	A	2: 153,033,065 (GRCm39)	V290E	probably damaging	Het
Tmem63b	A	G	17: 45,985,060 (GRCm39)	S179P	probably damaging	Het
Trpm3	T	A	19: 22,965,153 (GRCm39)	F1549L	probably benign	Het
Ubr4	A	T	4: 139,212,631 (GRCm39)	Y5063F	possibly damaging	Het
Uroc1	T	A	6: 90,313,937 (GRCm39)	Y75N	probably damaging	Het
Vmn2r70	T	C	7: 85,215,112 (GRCm39)	T141A	probably benign	Het
Vps13c	A	G	9: 67,868,931 (GRCm39)	K3128E	probably damaging	Het
Wdr26	T	C	1: 181,013,470 (GRCm39)		probably null	Het
Wrn	T	A	8: 33,738,946 (GRCm39)		probably null	Het
Zfp106	C	T	2: 120,385,729 (GRCm39)	V13M	probably damaging	Het
Zfp456	G	A	13: 67,514,663 (GRCm39)	H348Y	probably damaging	Het
Zfpm1	G	A	8: 123,063,398 (GRCm39)	R819H	probably benign	Het

Other mutations in Crx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Typhlotic	UTSW	7	15,602,032 (GRCm39)	nonsense	probably null
R0437:Crx	UTSW	7	15,605,071 (GRCm39)	nonsense	probably null
R1601:Crx	UTSW	7	15,601,736 (GRCm39)	splice site	probably null
R1898:Crx	UTSW	7	15,602,148 (GRCm39)	missense	probably damaging	1.00
R1933:Crx	UTSW	7	15,602,301 (GRCm39)	nonsense	probably null
R1988:Crx	UTSW	7	15,603,272 (GRCm39)	missense	possibly damaging	0.95
R5272:Crx	UTSW	7	15,602,210 (GRCm39)	missense	probably damaging	0.99
R5326:Crx	UTSW	7	15,602,262 (GRCm39)	missense	probably damaging	1.00
R5542:Crx	UTSW	7	15,602,262 (GRCm39)	missense	probably damaging	1.00
R6134:Crx	UTSW	7	15,602,032 (GRCm39)	nonsense	probably null
R7313:Crx	UTSW	7	15,601,857 (GRCm39)	missense	probably damaging	1.00
R8458:Crx	UTSW	7	15,602,031 (GRCm39)	missense	possibly damaging	0.56
R9619:Crx	UTSW	7	15,602,185 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGTGAAGGACTTCAATCTCAGCAC -3'
(R):5'- TGGGCAGAGTAGTCTGTTGGACAC -3'

Sequencing Primer
(F):5'- tccagcccaaaaacctctac -3'
(R):5'- GGACACCCTGTTCTCTTGTAG -3'

Posted On

2013-09-03