Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02971:Cdr2l'

365813

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdr2l

Ensembl Gene

ENSMUSG00000050910

Gene Name

cerebellar degeneration-related protein 2-like

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

IGL02971

Quality Score

Status

Chromosome

Chromosomal Location

115381916-115396132 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115390900 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 77 (N77S)

Ref Sequence

ENSEMBL: ENSMUSP00000052096 (fasta)

Gene Model

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

AlphaFold

A2A6T1

Predicted Effect

probably damaging
Transcript: ENSMUST00000053288
AA Change: N77S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052096
Gene: ENSMUSG00000050910
AA Change: N77S

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	C	T	2: 104,123,219	T130I	probably benign	Het
Ahi1	T	C	10: 21,000,551	L787P	possibly damaging	Het
Atf3	A	G	1: 191,177,443	S10P	probably benign	Het
Cnp	A	G	11: 100,576,699	D156G	probably benign	Het
Cntn3	A	T	6: 102,168,933	D982E	probably damaging	Het
Col22a1	A	G	15: 72,006,738	L190S	probably damaging	Het
Csmd3	C	T	15: 47,913,929		probably benign	Het
Dnah5	A	G	15: 28,384,461	D3117G	probably damaging	Het
Dock5	T	C	14: 67,757,109	E1834G	probably null	Het
Eea1	A	G	10: 96,041,527	T1368A	probably benign	Het
Fam83f	T	C	15: 80,672,149	V78A	probably benign	Het
Fcgbp	G	A	7: 28,101,473	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,548,923	Y364*	probably null	Het
Gm21976	G	A	13: 98,302,549	G16R	probably null	Het
Guca2b	A	G	4: 119,657,688	S59P	probably damaging	Het
Hars2	A	G	18: 36,786,178	E123G	probably damaging	Het
Hdac2	A	T	10: 37,000,374	K462*	probably null	Het
Huwe1	T	A	X: 151,927,626		probably benign	Het
Iqgap3	T	A	3: 88,090,304	N262K	probably benign	Het
Kat6b	A	G	14: 21,669,758	S1502G	probably damaging	Het
Mapkapk3	A	T	9: 107,257,080	D328E	probably benign	Het
Mgea5	A	G	19: 45,762,243	F671S	probably damaging	Het
Naca	C	T	10: 128,041,568		probably benign	Het
Npffr1	T	C	10: 61,614,139	V64A	probably damaging	Het
Olfr331	A	G	11: 58,502,385	L57P	probably damaging	Het
Olfr918	T	A	9: 38,673,268	M72L	probably damaging	Het
Pcca	A	G	14: 122,889,533	D718G	probably damaging	Het
Pde6a	A	C	18: 61,264,255	D670A	probably damaging	Het
Pramel7	T	A	2: 87,490,073	E292V	probably benign	Het
Prmt9	A	C	8: 77,565,069	M357L	probably benign	Het
Ptgfr	A	T	3: 151,835,326	S182T	probably benign	Het
Rtraf	A	T	14: 19,816,192	M152K	possibly damaging	Het
Satb1	T	C	17: 51,742,689	D579G	possibly damaging	Het
Serpinb6a	A	G	13: 33,931,470		probably null	Het
Slc5a9	T	C	4: 111,890,300	I297V	possibly damaging	Het
Slf1	T	A	13: 77,047,104		probably benign	Het
St8sia2	C	T	7: 73,966,811	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,689,280	M262V	probably benign	Het
Tmem147	A	G	7: 30,729,422		probably benign	Het
Tmem220	A	G	11: 67,034,107		probably null	Het
Uspl1	A	G	5: 149,188,346	N35S	possibly damaging	Het
Vmn1r170	A	T	7: 23,606,334	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 124,127,894	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,305,744	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,300,966	M57K	probably benign	Het

Other mutations in Cdr2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Cdr2l	APN	11	115392738	missense	probably damaging	0.99
IGL01326:Cdr2l	APN	11	115390970	missense	probably benign	0.04
IGL01411:Cdr2l	APN	11	115382366	missense	probably damaging	0.99
IGL01459:Cdr2l	APN	11	115390552	missense	probably damaging	1.00
R0135:Cdr2l	UTSW	11	115393671	missense	probably damaging	1.00
R1181:Cdr2l	UTSW	11	115394179	missense	probably damaging	1.00
R1598:Cdr2l	UTSW	11	115393377	missense	probably damaging	0.99
R1612:Cdr2l	UTSW	11	115393406	missense	probably benign	0.01
R1919:Cdr2l	UTSW	11	115392777	missense	probably damaging	1.00
R2090:Cdr2l	UTSW	11	115391001	missense	probably damaging	1.00
R2286:Cdr2l	UTSW	11	115392800	frame shift	probably null
R4938:Cdr2l	UTSW	11	115393825	missense	possibly damaging	0.86
R5114:Cdr2l	UTSW	11	115393360	missense	probably damaging	1.00
R5355:Cdr2l	UTSW	11	115393570	missense	possibly damaging	0.87
R6783:Cdr2l	UTSW	11	115393669	missense	possibly damaging	0.56
R7156:Cdr2l	UTSW	11	115390966	missense	probably benign	0.15
R8330:Cdr2l	UTSW	11	115394113	missense	probably benign	0.21
R8427:Cdr2l	UTSW	11	115394039	missense	probably damaging	1.00
R8807:Cdr2l	UTSW	11	115393915	missense	probably damaging	1.00
R9081:Cdr2l	UTSW	11	115394113	missense	probably damaging	1.00
R9166:Cdr2l	UTSW	11	115392711	missense	probably benign	0.42

Posted On

2015-12-18