Mutagenetix > Incidental Mutation

Incidental Mutation 'R5355:Cdr2l'

424054

Institutional Source

Beutler Lab

Gene Symbol

Cdr2l

Ensembl Gene

ENSMUSG00000050910

Gene Name

cerebellar degeneration-related protein 2-like

Synonyms

D030068L24Rik

MMRRC Submission

042934-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R5355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115272742-115286958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115284396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 244 (V244A)

Ref Sequence

ENSEMBL: ENSMUSP00000052096 (fasta)

Gene Model

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

AlphaFold

A2A6T1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053288
AA Change: V244A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052096
Gene: ENSMUSG00000050910
AA Change: V244A

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

Meta Mutation Damage Score

0.0588

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

94% (50/53)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,776,873 (GRCm39)	L857P	probably damaging	Het
Adam12	T	C	7: 133,489,671 (GRCm39)	*582W	probably null	Het
Adra1d	A	G	2: 131,403,007 (GRCm39)	V361A	probably damaging	Het
Ank2	A	G	3: 126,737,698 (GRCm39)		probably benign	Het
Atxn10	T	A	15: 85,346,515 (GRCm39)	N424K	probably damaging	Het
C8b	A	G	4: 104,637,860 (GRCm39)	T111A	probably benign	Het
Ccdc168	A	C	1: 44,097,139 (GRCm39)	C1320G	possibly damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Col11a2	A	G	17: 34,270,775 (GRCm39)	M468V	probably benign	Het
Col4a2	G	A	8: 11,495,984 (GRCm39)	R1535H	probably damaging	Het
Cryab	A	T	9: 50,664,751 (GRCm39)	S59C	probably damaging	Het
Cuzd1	G	A	7: 130,917,853 (GRCm39)	T249I	probably damaging	Het
Disp2	G	A	2: 118,617,392 (GRCm39)	V129M	probably benign	Het
Dlg2	G	T	7: 91,099,011 (GRCm39)	R31L	probably benign	Het
Dthd1	A	C	5: 62,996,730 (GRCm39)	L488F	probably damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
Fat2	T	G	11: 55,172,992 (GRCm39)	I2574L	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,231,247 (GRCm39)	D1610G	probably damaging	Het
Gm10330	T	A	12: 23,830,131 (GRCm39)	N17Y	probably damaging	Het
Gm4787	T	A	12: 81,424,239 (GRCm39)	R640*	probably null	Het
H2bc13	A	T	13: 21,900,030 (GRCm39)	I95N	probably damaging	Het
Ift88	T	A	14: 57,675,699 (GRCm39)	S71T	probably benign	Het
Isoc2b	A	G	7: 4,852,357 (GRCm39)		probably benign	Het
Itgb2	G	T	10: 77,393,886 (GRCm39)	R442L	probably benign	Het
Lama5	A	T	2: 179,823,444 (GRCm39)	N2658K	possibly damaging	Het
Lemd3	A	T	10: 120,769,538 (GRCm39)	I598K	probably damaging	Het
Lrp2	A	T	2: 69,285,182 (GRCm39)	C3825*	probably null	Het
Mep1a	T	C	17: 43,788,037 (GRCm39)	D673G	probably damaging	Het
Met	A	G	6: 17,491,361 (GRCm39)	Y41C	probably damaging	Het
Mfn2	A	G	4: 147,979,035 (GRCm39)	V99A	probably damaging	Het
Mmadhc	A	G	2: 50,181,436 (GRCm39)	I78T	probably benign	Het
Mmp9	C	A	2: 164,792,912 (GRCm39)	P389T	possibly damaging	Het
Mvk	T	G	5: 114,590,499 (GRCm39)	S7A	probably damaging	Het
Nlrp1a	T	A	11: 71,015,077 (GRCm39)	T58S	probably benign	Het
Nlrp1c-ps	C	A	11: 71,148,839 (GRCm39)		noncoding transcript	Het
Nr1h3	A	G	2: 91,022,253 (GRCm39)	I125T	possibly damaging	Het
Or2a55-ps1	C	T	6: 43,071,598 (GRCm39)		noncoding transcript	Het
Or8k39	A	T	2: 86,563,680 (GRCm39)	I92K	probably damaging	Het
Parn	A	G	16: 13,485,886 (GRCm39)	I3T	possibly damaging	Het
Parp8	A	G	13: 116,998,740 (GRCm39)		probably null	Het
Parva	T	C	7: 112,143,475 (GRCm39)		probably null	Het
Pwp2	A	C	10: 78,011,378 (GRCm39)	I672M	possibly damaging	Het
Sfswap	C	T	5: 129,616,810 (GRCm39)	T418I	probably benign	Het
Slc6a3	A	G	13: 73,709,078 (GRCm39)	Y334C	probably damaging	Het
Slc7a13	C	A	4: 19,839,267 (GRCm39)	T290K	probably benign	Het
Spry2	A	G	14: 106,130,712 (GRCm39)	L158P	probably damaging	Het
Usp25	A	G	16: 76,847,342 (GRCm39)	E150G	probably damaging	Het
Zfp747	A	G	7: 126,973,769 (GRCm39)	F134L	possibly damaging	Het
Zp3r	A	G	1: 130,524,518 (GRCm39)	F175S	probably benign	Het
Zscan22	C	A	7: 12,640,435 (GRCm39)	N67K	probably benign	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
IGL01459:Cdr2l	APN	11	115,281,378 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCAGATGTGAGGATGCCTTC -3'
(R):5'- CACCATCCTGGGCATTAGAGTC -3'

Sequencing Primer
(F):5'- GATGCCTTCCGCCTACACAG -3'
(R):5'- GGGCATTAGAGTCATCTCCACTG -3'

Posted On

2016-08-04