Mutagenetix > Incidental Mutation

Incidental Mutation 'R0437:Crx'

39069

Institutional Source

Beutler Lab

Gene Symbol

Crx

Ensembl Gene

ENSMUSG00000041578

Gene Name

cone-rod homeobox

Synonyms

Crx1

MMRRC Submission

038638-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.362) question?

Stock #

R0437 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

15599872-15613880 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 15605071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 57 (S57*)

Ref Sequence

ENSEMBL: ENSMUSP00000134400 (fasta)

Gene Model

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

AlphaFold

O54751

Predicted Effect

probably null
Transcript: ENSMUST00000044434
AA Change: S33*

SMART Domains

Protein: ENSMUSP00000043436
Gene: ENSMUSG00000041578
AA Change: S33*

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 null
Transcript: ENSMUST00000132563
AA Change: S33*

SMART Domains

Protein: ENSMUSP00000133833
Gene: ENSMUSG00000041578
AA Change: S33*

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 null
Transcript: ENSMUST00000165905
AA Change: S57*

SMART Domains

Protein: ENSMUSP00000126642
Gene: ENSMUSG00000041578
AA Change: S57*

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 null
Transcript: ENSMUST00000172758
AA Change: S33*

SMART Domains

Protein: ENSMUSP00000134463
Gene: ENSMUSG00000041578
AA Change: S33*

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

Predicted Effect

probably null
Transcript: ENSMUST00000174318
AA Change: S57*

SMART Domains

Protein: ENSMUSP00000134400
Gene: ENSMUSG00000041578
AA Change: S57*

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (104/104)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	A	13: 119,606,631 (GRCm39)	R291K	probably benign	Het
Abca2	T	C	2: 25,332,857 (GRCm39)	S1519P	probably damaging	Het
Abcb11	G	A	2: 69,087,639 (GRCm39)	A1042V	probably damaging	Het
Abcc10	A	T	17: 46,623,845 (GRCm39)		probably null	Het
Abcc10	G	T	17: 46,623,846 (GRCm39)		probably benign	Het
Alkbh3	A	C	2: 93,811,914 (GRCm39)	L240V	probably damaging	Het
Apol10b	T	C	15: 77,469,608 (GRCm39)	S190G	probably benign	Het
Atp1a3	C	A	7: 24,698,392 (GRCm39)	C135F	probably benign	Het
Atp4a	C	G	7: 30,419,526 (GRCm39)	R659G	probably benign	Het
Bicra	A	G	7: 15,722,687 (GRCm39)	S277P	possibly damaging	Het
Bltp1	A	T	3: 37,043,953 (GRCm39)	H2820L	possibly damaging	Het
Bmp8a	T	C	4: 123,210,690 (GRCm39)	E275G	probably benign	Het
Ccdc102a	T	C	8: 95,640,054 (GRCm39)	E80G	probably damaging	Het
Cdh23	T	C	10: 60,246,576 (GRCm39)	D954G	probably damaging	Het
Chrm4	A	G	2: 91,758,788 (GRCm39)	T399A	possibly damaging	Het
Clcn3	A	G	8: 61,387,571 (GRCm39)	V199A	possibly damaging	Het
Crlf1	T	C	8: 70,952,164 (GRCm39)		probably null	Het
Cstpp1	A	G	2: 91,252,298 (GRCm39)	L21P	probably damaging	Het
Cyp4f16	A	G	17: 32,756,072 (GRCm39)	I34V	possibly damaging	Het
Daxx	T	C	17: 34,132,598 (GRCm39)	V576A	probably benign	Het
Ddx17	C	T	15: 79,421,672 (GRCm39)	R351H	probably damaging	Het
Dhx38	T	C	8: 110,285,261 (GRCm39)		probably benign	Het
Dnd1	T	C	18: 36,897,552 (GRCm39)		probably benign	Het
Dync1i2	A	T	2: 71,058,169 (GRCm39)		probably null	Het
E2f6	T	C	12: 16,866,446 (GRCm39)	S52P	probably benign	Het
Epb41l4a	A	G	18: 34,013,326 (GRCm39)	F116S	probably damaging	Het
Ext1	T	C	15: 52,969,502 (GRCm39)	N362S	probably damaging	Het
Fam227a	C	A	15: 79,528,189 (GRCm39)	K79N	possibly damaging	Het
Fam228a	T	A	12: 4,782,759 (GRCm39)	L111F	probably damaging	Het
Fat2	T	C	11: 55,173,625 (GRCm39)	T2363A	probably benign	Het
Fat3	A	T	9: 15,908,228 (GRCm39)	N2591K	probably damaging	Het
Frem2	A	G	3: 53,560,436 (GRCm39)	M1357T	possibly damaging	Het
Frmd4b	A	T	6: 97,400,424 (GRCm39)	V29D	probably damaging	Het
G930045G22Rik	A	G	6: 50,823,918 (GRCm39)		noncoding transcript	Het
Galnt3	A	G	2: 65,937,573 (GRCm39)	S46P	possibly damaging	Het
Gmeb2	A	G	2: 180,895,766 (GRCm39)	V468A	possibly damaging	Het
Herc2	C	T	7: 55,869,563 (GRCm39)	R4271*	probably null	Het
Il5	C	A	11: 53,614,733 (GRCm39)		probably benign	Het
Ints9	G	A	14: 65,223,818 (GRCm39)		probably benign	Het
Itga10	T	C	3: 96,556,453 (GRCm39)	F196S	probably damaging	Het
Itgb3bp	T	C	4: 99,670,126 (GRCm39)	T138A	probably damaging	Het
Kcnd1	G	A	X: 7,690,922 (GRCm39)	V281M	probably benign	Het
Lcp2	T	C	11: 34,037,229 (GRCm39)	L391P	probably benign	Het
Lrrc66	T	C	5: 73,765,030 (GRCm39)	Y671C	probably benign	Het
Mettl23	T	C	11: 116,740,120 (GRCm39)	V197A	possibly damaging	Het
Mmp15	C	A	8: 96,097,400 (GRCm39)	D456E	probably benign	Het
Mospd4	T	C	18: 46,598,848 (GRCm39)		noncoding transcript	Het
Mov10l1	C	A	15: 88,889,515 (GRCm39)	H484N	probably damaging	Het
Mphosph9	T	C	5: 124,453,631 (GRCm39)	Q197R	probably benign	Het
Ms4a1	T	A	19: 11,233,933 (GRCm39)		probably null	Het
Mybbp1a	T	C	11: 72,339,674 (GRCm39)	V919A	possibly damaging	Het
Mycbpap	A	T	11: 94,404,338 (GRCm39)		probably benign	Het
Naip6	G	A	13: 100,433,432 (GRCm39)	S1135F	possibly damaging	Het
Ndufc2	T	A	7: 97,049,544 (GRCm39)	M50K	probably benign	Het
Npr2	T	C	4: 43,648,082 (GRCm39)	V842A	probably damaging	Het
Ntsr2	G	T	12: 16,703,696 (GRCm39)	G66W	probably damaging	Het
Obscn	T	C	11: 58,885,914 (GRCm39)		probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or4c11	T	A	2: 88,695,229 (GRCm39)	N93K	probably benign	Het
Or4c114	T	A	2: 88,904,956 (GRCm39)	I160F	probably benign	Het
Or6c33	T	C	10: 129,853,965 (GRCm39)	V245A	probably damaging	Het
Or6k14	G	A	1: 173,927,965 (GRCm39)	G314R	probably benign	Het
Otud4	T	A	8: 80,396,626 (GRCm39)	H628Q	probably benign	Het
Padi6	T	C	4: 140,456,240 (GRCm39)	T585A	probably benign	Het
Pex16	G	T	2: 92,205,937 (GRCm39)	R10L	probably damaging	Het
Pitpnm2	A	G	5: 124,269,152 (GRCm39)		probably benign	Het
Pom121l2	A	G	13: 22,167,375 (GRCm39)	T549A	possibly damaging	Het
Prdm15	A	T	16: 97,613,759 (GRCm39)	M470K	probably benign	Het
Prkag2	T	A	5: 25,233,503 (GRCm39)	D49V	possibly damaging	Het
Prl3c1	A	G	13: 27,383,447 (GRCm39)	M38V	probably benign	Het
Prpf18	T	A	2: 4,648,572 (GRCm39)	I85F	possibly damaging	Het
Psg27	A	G	7: 18,294,636 (GRCm39)		probably benign	Het
Relt	A	G	7: 100,497,991 (GRCm39)		probably benign	Het
Rskr	T	C	11: 78,182,362 (GRCm39)	L57P	probably benign	Het
Serpina3b	A	T	12: 104,096,929 (GRCm39)	N70I	probably damaging	Het
Slc19a3	T	C	1: 83,000,286 (GRCm39)	S244G	probably benign	Het
Slc39a5	T	C	10: 128,235,716 (GRCm39)	T81A	possibly damaging	Het
Slc7a2	G	A	8: 41,357,563 (GRCm39)	G277D	probably damaging	Het
Slc9c1	C	T	16: 45,420,250 (GRCm39)		probably benign	Het
Slx1b	A	G	7: 126,291,753 (GRCm39)	F104L	probably benign	Het
Smg6	G	A	11: 74,820,527 (GRCm39)	S266N	probably damaging	Het
Spata9	T	C	13: 76,146,614 (GRCm39)	V162A	possibly damaging	Het
Szrd1	T	C	4: 140,846,055 (GRCm39)	I47V	probably benign	Het
Tha1	G	T	11: 117,759,401 (GRCm39)	L363M	probably benign	Het
Tmc6	G	A	11: 117,669,087 (GRCm39)	T89I	possibly damaging	Het
Tmem132d	C	T	5: 127,866,849 (GRCm39)	G684R	probably damaging	Het
Trim55	G	A	3: 19,725,142 (GRCm39)	G220S	probably benign	Het
Ttn	A	G	2: 76,600,874 (GRCm39)	L18836P	probably damaging	Het
Ubn1	G	T	16: 4,890,048 (GRCm39)		probably benign	Het
Ush2a	T	G	1: 188,643,228 (GRCm39)	W4197G	probably benign	Het
Vmn1r189	A	T	13: 22,286,231 (GRCm39)	V202E	probably damaging	Het
Vmn1r209	T	C	13: 22,990,526 (GRCm39)	I55V	probably benign	Het
Vmn2r86	A	T	10: 130,282,412 (GRCm39)	C735S	probably damaging	Het
Vwf	A	T	6: 125,543,281 (GRCm39)	D174V	probably damaging	Het
Zfp438	T	C	18: 5,214,910 (GRCm39)	N16S	probably damaging	Het
Zfp444	C	T	7: 6,192,408 (GRCm39)	T142I	probably benign	Het
Zfp804a	A	G	2: 81,884,135 (GRCm39)	M1V	probably null	Het
Zfp936	T	G	7: 42,838,734 (GRCm39)	I67S	probably benign	Het
Zfp948	A	T	17: 21,807,260 (GRCm39)	N151Y	unknown	Het

Other mutations in Crx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Typhlotic	UTSW	7	15,602,032 (GRCm39)	nonsense	probably null
R0729:Crx	UTSW	7	15,605,058 (GRCm39)	splice site	probably benign
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

2013-05-23