Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01459:Cdr2l'

87934

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdr2l

Ensembl Gene

ENSMUSG00000050910

Gene Name

cerebellar degeneration-related protein 2-like

Synonyms

D030068L24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL01459

Quality Score

Status

Chromosome

Chromosomal Location

115272742-115286958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115281378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 41 (R41G)

Ref Sequence

ENSEMBL: ENSMUSP00000052096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053288]

AlphaFold

A2A6T1

Predicted Effect

probably damaging
Transcript: ENSMUST00000053288
AA Change: R41G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000052096
Gene: ENSMUSG00000050910
AA Change: R41G

Domain	Start	End	E-Value	Type
coiled coil region	31	143	N/A	INTRINSIC
coiled coil region	188	267	N/A	INTRINSIC
low complexity region	303	310	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2a2	A	G	5: 122,607,715 (GRCm39)	S265P	probably benign	Het
Brwd1	A	G	16: 95,848,620 (GRCm39)	F520L	probably damaging	Het
Cdh5	A	T	8: 104,864,449 (GRCm39)	D470V	probably damaging	Het
Csrnp1	C	T	9: 119,802,024 (GRCm39)	C345Y	probably damaging	Het
Dscaml1	T	A	9: 45,653,981 (GRCm39)	Y1419*	probably null	Het
Entpd3	T	C	9: 120,391,007 (GRCm39)	S420P	probably damaging	Het
Epb41	A	G	4: 131,691,439 (GRCm39)		probably benign	Het
Erg	A	G	16: 95,162,141 (GRCm39)	S322P	probably damaging	Het
Fndc3b	T	A	3: 27,515,889 (GRCm39)	H639L	probably benign	Het
Grwd1	C	T	7: 45,479,834 (GRCm39)		probably null	Het
Kbtbd8	A	G	6: 95,099,789 (GRCm39)	N356D	probably benign	Het
Kif15	A	G	9: 122,804,820 (GRCm39)	E189G	probably damaging	Het
Kif2b	T	C	11: 91,467,849 (GRCm39)	K145E	possibly damaging	Het
Kif5c	A	G	2: 49,625,569 (GRCm39)	D613G	probably benign	Het
Lipe	T	G	7: 25,082,967 (GRCm39)	Q457P	probably damaging	Het
Lrp1b	A	T	2: 40,750,726 (GRCm39)	I2946N	probably damaging	Het
Mtf2	C	T	5: 108,228,809 (GRCm39)	P42S	probably damaging	Het
Neb	A	G	2: 52,066,804 (GRCm39)	S5886P	probably damaging	Het
Nmu	A	G	5: 76,506,196 (GRCm39)		probably null	Het
Nup153	T	C	13: 46,866,402 (GRCm39)	E214G	possibly damaging	Het
Or14c44	A	C	7: 86,061,759 (GRCm39)	N104T	probably damaging	Het
Or6c66b	G	A	10: 129,376,410 (GRCm39)	M1I	probably null	Het
Paqr3	T	C	5: 97,243,796 (GRCm39)	D306G	probably benign	Het
Plxna2	A	G	1: 194,446,878 (GRCm39)	D796G	probably benign	Het
Prkra	A	G	2: 76,460,780 (GRCm39)	L306S	probably damaging	Het
Psg20	T	A	7: 18,416,638 (GRCm39)	E159D	probably damaging	Het
Ptchd3	G	T	11: 121,721,246 (GRCm39)	V40L	probably benign	Het
Rfx5	T	C	3: 94,865,086 (GRCm39)		probably benign	Het
Rimbp2	A	G	5: 128,865,275 (GRCm39)		probably null	Het
Slc22a4	C	A	11: 53,877,303 (GRCm39)		probably null	Het
Tars1	A	G	15: 11,391,940 (GRCm39)	V265A	possibly damaging	Het
Tatdn2	T	A	6: 113,686,992 (GRCm39)		probably null	Het
Tenm4	C	T	7: 96,378,592 (GRCm39)	P399L	probably damaging	Het
Tmem135	A	T	7: 88,800,646 (GRCm39)	D325E	probably damaging	Het
Tmprss7	A	T	16: 45,483,706 (GRCm39)	I556N	probably benign	Het
Tom1l2	C	T	11: 60,171,095 (GRCm39)	G23S	probably damaging	Het
Ubr2	A	G	17: 47,241,435 (GRCm39)		probably benign	Het
Vmn1r197	T	C	13: 22,512,241 (GRCm39)	I54T	probably benign	Het
Vmn2r116	T	C	17: 23,603,903 (GRCm39)	C43R	probably damaging	Het
Vps33a	A	G	5: 123,673,371 (GRCm39)	L405P	probably benign	Het
Zfp473	C	T	7: 44,388,987 (GRCm39)	D45N	probably damaging	Het

Other mutations in Cdr2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Cdr2l	APN	11	115,283,564 (GRCm39)	missense	probably damaging	0.99
IGL01326:Cdr2l	APN	11	115,281,796 (GRCm39)	missense	probably benign	0.04
IGL01411:Cdr2l	APN	11	115,273,192 (GRCm39)	missense	probably damaging	0.99
IGL02971:Cdr2l	APN	11	115,281,726 (GRCm39)	missense	probably damaging	1.00
R0135:Cdr2l	UTSW	11	115,284,497 (GRCm39)	missense	probably damaging	1.00
R1181:Cdr2l	UTSW	11	115,285,005 (GRCm39)	missense	probably damaging	1.00
R1598:Cdr2l	UTSW	11	115,284,203 (GRCm39)	missense	probably damaging	0.99
R1612:Cdr2l	UTSW	11	115,284,232 (GRCm39)	missense	probably benign	0.01
R1919:Cdr2l	UTSW	11	115,283,603 (GRCm39)	missense	probably damaging	1.00
R2090:Cdr2l	UTSW	11	115,281,827 (GRCm39)	missense	probably damaging	1.00
R2286:Cdr2l	UTSW	11	115,283,626 (GRCm39)	frame shift	probably null
R4938:Cdr2l	UTSW	11	115,284,651 (GRCm39)	missense	possibly damaging	0.86
R5114:Cdr2l	UTSW	11	115,284,186 (GRCm39)	missense	probably damaging	1.00
R5355:Cdr2l	UTSW	11	115,284,396 (GRCm39)	missense	possibly damaging	0.87
R6783:Cdr2l	UTSW	11	115,284,495 (GRCm39)	missense	possibly damaging	0.56
R7156:Cdr2l	UTSW	11	115,281,792 (GRCm39)	missense	probably benign	0.15
R8330:Cdr2l	UTSW	11	115,284,939 (GRCm39)	missense	probably benign	0.21
R8427:Cdr2l	UTSW	11	115,284,865 (GRCm39)	missense	probably damaging	1.00
R8807:Cdr2l	UTSW	11	115,284,741 (GRCm39)	missense	probably damaging	1.00
R9081:Cdr2l	UTSW	11	115,284,939 (GRCm39)	missense	probably damaging	1.00
R9166:Cdr2l	UTSW	11	115,283,537 (GRCm39)	missense	probably benign	0.42

Posted On

2013-11-18