Mutagenetix > Incidental Mutation

Incidental Mutation 'R8488:Crxos'

657844

Institutional Source

Beutler Lab

Gene Symbol

Crxos

Ensembl Gene

ENSMUSG00000074365

Gene Name

cone-rod homeobox, opposite strand

Synonyms

Egam1, Crxos1

MMRRC Submission

067931-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R8488 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15616542-15637945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15637625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 65 (S65P)

Ref Sequence

ENSEMBL: ENSMUSP00000130485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098801] [ENSMUST00000125993] [ENSMUST00000150050] [ENSMUST00000171280] [ENSMUST00000173808]

AlphaFold

Q3UL53

Predicted Effect

probably benign
Transcript: ENSMUST00000098801
AA Change: S169P

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096399
Gene: ENSMUSG00000074365
AA Change: S169P

Domain	Start	End	E-Value	Type
HOX	13	75	6.06e-4	SMART
HOX	123	185	3.93e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125993

SMART Domains

Protein: ENSMUSP00000139388
Gene: ENSMUSG00000074365

Domain	Start	End	E-Value	Type
Blast:HOX	1	30	8e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000150050

SMART Domains

Protein: ENSMUSP00000133563
Gene: ENSMUSG00000074365

Domain	Start	End	E-Value	Type
HOX	13	75	6.06e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171280
AA Change: S65P

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130485
Gene: ENSMUSG00000074365
AA Change: S65P

Domain	Start	End	E-Value	Type
HOX	19	81	3.93e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173808

SMART Domains

Protein: ENSMUSP00000138891
Gene: ENSMUSG00000074365

Domain	Start	End	E-Value	Type
Pfam:Homeobox	8	50	2.4e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg1	A	G	11: 120,238,517 (GRCm39)	V160A	possibly damaging	Het
Anapc5	A	G	5: 122,956,033 (GRCm39)	*96Q	probably null	Het
Ano2	A	G	6: 125,957,133 (GRCm39)	Y634C	probably damaging	Het
Appl2	T	C	10: 83,446,866 (GRCm39)	K406R	probably benign	Het
Arhgef15	T	A	11: 68,838,496 (GRCm39)		probably null	Het
Atp13a4	C	A	16: 29,236,654 (GRCm39)	E868D	possibly damaging	Het
BC005624	T	C	2: 30,871,857 (GRCm39)	K6E	possibly damaging	Het
Cd200l2	A	G	16: 45,348,834 (GRCm39)	Y113H	probably damaging	Het
Cenpe	T	A	3: 134,965,002 (GRCm39)	I2024N	probably damaging	Het
Clint1	T	G	11: 45,781,457 (GRCm39)	Y176D	probably damaging	Het
Cyp4f15	A	G	17: 32,920,948 (GRCm39)	T408A	probably benign	Het
Depdc1a	A	G	3: 159,229,512 (GRCm39)	M615V	probably damaging	Het
Dpysl2	T	C	14: 67,066,850 (GRCm39)	I194M	possibly damaging	Het
Dsg2	A	G	18: 20,734,431 (GRCm39)	Y803C	probably damaging	Het
Dtd2	A	G	12: 52,046,344 (GRCm39)	L165P	probably benign	Het
Gabrb2	A	T	11: 42,517,491 (GRCm39)	S438C	possibly damaging	Het
Gjb5	C	A	4: 127,250,078 (GRCm39)	R22L	probably damaging	Het
Gls	A	G	1: 52,239,012 (GRCm39)		probably null	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gstt2	T	A	10: 75,667,823 (GRCm39)	S211C	possibly damaging	Het
Hck	A	G	2: 152,966,130 (GRCm39)	K35E	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Igsf10	C	T	3: 59,227,431 (GRCm39)	G2081R	probably damaging	Het
Lrp1	C	T	10: 127,396,356 (GRCm39)	E2403K	probably damaging	Het
Or3a1	C	T	11: 74,225,932 (GRCm39)	V42I	probably benign	Het
Or6c3b	T	A	10: 129,527,343 (GRCm39)	D189V	probably damaging	Het
Phlpp2	A	T	8: 110,640,202 (GRCm39)	M456L	probably benign	Het
Pnp2	A	G	14: 51,201,836 (GRCm39)	E274G	possibly damaging	Het
Pold3	T	C	7: 99,738,938 (GRCm39)	Y303C	probably benign	Het
Prr5	C	T	15: 84,578,005 (GRCm39)	R96C	probably damaging	Het
Repin1	A	T	6: 48,570,952 (GRCm39)	D2V	probably damaging	Het
Sec23b	T	A	2: 144,423,983 (GRCm39)	V544E	probably damaging	Het
Slc6a17	A	G	3: 107,384,574 (GRCm39)	F342S	possibly damaging	Het
Slco4c1	T	C	1: 96,759,736 (GRCm39)	N532S	probably benign	Het
Slitrk3	T	G	3: 72,958,520 (GRCm39)	Y84S	probably benign	Het
Srcin1	T	C	11: 97,416,686 (GRCm39)		probably null	Het
Syne2	C	T	12: 76,012,546 (GRCm39)	A2580V	probably benign	Het
Tex48	C	T	4: 63,530,160 (GRCm39)	E20K	probably benign	Het
Trip13	A	T	13: 74,081,032 (GRCm39)	N111K	probably benign	Het
Ugcg	T	A	4: 59,213,896 (GRCm39)	N159K	probably benign	Het

Other mutations in Crxos

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Crxos	APN	7	15,632,543 (GRCm39)	nonsense	probably null
IGL02888:Crxos	APN	7	15,636,855 (GRCm39)	missense	possibly damaging	0.71
R0060:Crxos	UTSW	7	15,632,448 (GRCm39)	missense	possibly damaging	0.94
R0491:Crxos	UTSW	7	15,632,460 (GRCm39)	missense	probably benign	0.01
R5111:Crxos	UTSW	7	15,630,142 (GRCm39)	unclassified	probably benign
R6185:Crxos	UTSW	7	15,636,805 (GRCm39)	missense	possibly damaging	0.71
R7474:Crxos	UTSW	7	15,636,856 (GRCm39)	missense	possibly damaging	0.85
R8223:Crxos	UTSW	7	15,631,394 (GRCm39)	missense	probably benign	0.00
R8788:Crxos	UTSW	7	15,632,499 (GRCm39)	missense	probably benign	0.01
R8944:Crxos	UTSW	7	15,636,900 (GRCm39)	missense	possibly damaging	0.95
R9156:Crxos	UTSW	7	15,631,436 (GRCm39)	missense	probably benign	0.14
R9221:Crxos	UTSW	7	15,636,850 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CCTGATTGAAGCCTTGAGAGTTC -3'
(R):5'- CAAGGCTTCCAATGCTTCGG -3'

Sequencing Primer
(F):5'- TTGAAGCCTTGAGAGTTCCAGACC -3'
(R):5'- CTTCCAATGCTTCGGGGAGTC -3'

Posted On

2021-01-18