Mutagenetix > Incidental Mutation

Incidental Mutation 'R6134:Crx'

487274

Institutional Source

Beutler Lab

Gene Symbol

Crx

Ensembl Gene

ENSMUSG00000041578

Gene Name

cone-rod homeobox

Synonyms

Crx1

MMRRC Submission

044281-MU

Accession Numbers

Essential gene?

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

Stock #

R6134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15599872-15613880 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 15602032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 215 (Y215*)

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: Y191*

SMART Domains

Protein: ENSMUSP00000043436
Gene: ENSMUSG00000041578
AA Change: Y191*

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: Y191*

SMART Domains

Protein: ENSMUSP00000133833
Gene: ENSMUSG00000041578
AA Change: Y191*

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: ENSMUST00000172758

SMART Domains

Protein: ENSMUSP00000134463
Gene: ENSMUSG00000041578

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

Predicted Effect

probably null
Transcript: ENSMUST00000174318
AA Change: Y215*

SMART Domains

Protein: ENSMUSP00000134400
Gene: ENSMUSG00000041578
AA Change: Y215*

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

0.9717

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

94% (51/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,767,619 (GRCm39)	E39K	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Aktip	T	A	8: 91,856,388 (GRCm39)	S30C	probably damaging	Het
Anxa10	G	T	8: 62,530,977 (GRCm39)	H78N	probably damaging	Het
Aoah	C	T	13: 21,095,293 (GRCm39)	R196W	probably damaging	Het
Arl4c	A	T	1: 88,629,152 (GRCm39)	W79R	probably damaging	Het
Brd2	A	T	17: 34,332,669 (GRCm39)	D178E	probably benign	Het
Cacna1e	G	A	1: 154,577,037 (GRCm39)	P120L	probably damaging	Het
Cdh16	A	T	8: 105,342,697 (GRCm39)	M17K	probably benign	Het
Cdhr17	A	T	5: 17,029,683 (GRCm39)	D473V	probably damaging	Het
Chit1	A	G	1: 134,071,798 (GRCm39)	T103A	possibly damaging	Het
Clcn3	T	C	8: 61,387,607 (GRCm39)	Y214C	probably damaging	Het
Coch	T	A	12: 51,649,536 (GRCm39)	D282E	probably damaging	Het
Col1a2	C	A	6: 4,538,035 (GRCm39)	S1181R	unknown	Het
Col6a2	T	C	10: 76,442,978 (GRCm39)	D506G	probably damaging	Het
Fasn	A	T	11: 120,713,012 (GRCm39)	S58T	probably benign	Het
Fhip1a	T	C	3: 85,580,651 (GRCm39)	E518G	possibly damaging	Het
Garem1	A	T	18: 21,262,881 (GRCm39)	D644E	probably benign	Het
H2-Q2	A	C	17: 35,562,217 (GRCm39)	T155P	probably damaging	Het
Insr	A	T	8: 3,242,572 (GRCm39)	I49N	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lnpep	A	G	17: 17,773,454 (GRCm39)	M639T	probably benign	Het
Lypd11	G	A	7: 24,425,481 (GRCm39)	A3V	probably damaging	Het
Map3k20	C	T	2: 72,240,503 (GRCm39)	S333F	probably damaging	Het
Miga2	A	G	2: 30,261,229 (GRCm39)	S175G	probably benign	Het
Muc3a	A	T	5: 137,244,579 (GRCm39)	I191N	probably damaging	Het
Ncoa2	A	G	1: 13,244,595 (GRCm39)	V701A	probably damaging	Het
Nid2	T	C	14: 19,828,851 (GRCm39)	V565A	probably damaging	Het
Nova2	G	A	7: 18,691,794 (GRCm39)	A244T	unknown	Het
Numbl	G	C	7: 26,980,739 (GRCm39)	A574P	probably damaging	Het
Oas3	A	G	5: 120,907,113 (GRCm39)	V508A	unknown	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Pcdhb21	T	A	18: 37,647,461 (GRCm39)	S197T	probably benign	Het
Pck2	T	A	14: 55,781,419 (GRCm39)	M180K	probably damaging	Het
Pgr	T	C	9: 8,900,740 (GRCm39)	V91A	possibly damaging	Het
Phtf1	A	T	3: 103,911,721 (GRCm39)	M643L	probably damaging	Het
Prokr1	T	C	6: 87,565,837 (GRCm39)	T3A	possibly damaging	Het
Ptgs1	T	C	2: 36,141,190 (GRCm39)	Y546H	probably damaging	Het
Rasa1	A	G	13: 85,374,745 (GRCm39)	L742P	probably benign	Het
Rbbp6	T	C	7: 122,596,534 (GRCm39)		probably null	Het
Rgs22	A	G	15: 36,107,194 (GRCm39)	L64P	probably damaging	Het
Rnf213	A	T	11: 119,302,296 (GRCm39)	I407F	probably damaging	Het
Rp1l1	C	T	14: 64,267,545 (GRCm39)	P1044S	probably damaging	Het
Scin	G	A	12: 40,110,578 (GRCm39)	P690L	probably damaging	Het
Septin9	T	C	11: 117,242,987 (GRCm39)	L58P	probably damaging	Het
Slc1a7	A	G	4: 107,869,633 (GRCm39)	E566G	probably damaging	Het
Speer4f1	G	A	5: 17,681,140 (GRCm39)	R6Q	probably benign	Het
Tnxb	A	T	17: 34,890,986 (GRCm39)	Y443F	probably damaging	Het
Trpv1	A	G	11: 73,135,143 (GRCm39)	I79V	probably benign	Het
Ttll6	C	T	11: 96,030,568 (GRCm39)	T245I	possibly damaging	Het
Vmn2r26	T	C	6: 124,038,444 (GRCm39)	I673T	probably damaging	Het
Zfp60	T	C	7: 27,449,323 (GRCm39)	F664L	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
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
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'- CTATAGCTCTGGCCTGACAAG -3'
(R):5'- CCGAGACCCTCTACAGATGTTTG -3'

Sequencing Primer
(F):5'- CTGACAAGGAGGTGGGGGAC -3'
(R):5'- GAGACCCTCTACAGATGTTTGTACAG -3'

Posted On

2017-10-10