Mutagenetix > Incidental Mutation

Incidental Mutation 'R1181:Cdr2l'

101603

Institutional Source

Beutler Lab

Gene Symbol

Cdr2l

Ensembl Gene

ENSMUSG00000050910

Gene Name

cerebellar degeneration-related protein 2-like

Synonyms

D030068L24Rik

MMRRC Submission

039253-MU

Accession Numbers

Essential gene?

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

Stock #

R1181 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115272742-115286958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115285005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 447 (I447N)

Ref Sequence

ENSEMBL: ENSMUSP00000052096 (fasta)

Gene Model

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

AlphaFold

A2A6T1

Predicted Effect

probably damaging
Transcript: ENSMUST00000053288
AA Change: I447N

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

SMART Domains

Protein: ENSMUSP00000052096
Gene: ENSMUSG00000050910
AA Change: I447N

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

0.7897

Coding Region Coverage

1x: 99.3%
3x: 97.9%
10x: 93.9%
20x: 84.2%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	T	A	19: 4,922,638 (GRCm39)	Q64L	probably benign	Het
Ankrd12	T	C	17: 66,349,569 (GRCm39)	N88S	probably benign	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Bnipl	C	A	3: 95,152,960 (GRCm39)		probably null	Het
Bod1	T	C	11: 31,616,943 (GRCm39)		probably benign	Het
Cbarp	G	T	10: 79,971,328 (GRCm39)	H166N	probably damaging	Het
Cped1	T	G	6: 22,215,561 (GRCm39)	I698M	probably damaging	Het
Ecm1	G	A	3: 95,642,662 (GRCm39)	H404Y	possibly damaging	Het
Ehbp1	C	T	11: 22,012,831 (GRCm39)	V902I	probably benign	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Fastk	C	T	5: 24,646,729 (GRCm39)		probably null	Het
Gm6797	T	A	X: 8,508,004 (GRCm39)		noncoding transcript	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Hgf	G	C	5: 16,823,923 (GRCm39)	G707R	probably damaging	Het
Klhl5	T	C	5: 65,320,228 (GRCm39)	M594T	probably damaging	Het
Kyat3	A	C	3: 142,443,531 (GRCm39)		probably null	Het
Mettl14	C	T	3: 123,167,651 (GRCm39)	G236S	probably damaging	Het
Nob1	G	A	8: 108,148,122 (GRCm39)	P107S	probably damaging	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2a56	T	A	6: 42,932,492 (GRCm39)	L20Q	probably benign	Het
Or52e7	T	A	7: 104,685,021 (GRCm39)	N205K	probably damaging	Het
Or52n4b	C	A	7: 108,144,509 (GRCm39)	T257N	probably benign	Het
Or5b109	C	A	19: 13,212,195 (GRCm39)	H194N	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or6c65	A	G	10: 129,604,033 (GRCm39)	I223V	probably benign	Het
Pald1	A	G	10: 61,183,366 (GRCm39)		probably benign	Het
Pds5a	A	T	5: 65,784,545 (GRCm39)		probably null	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plekha2	A	C	8: 25,549,218 (GRCm39)	S189A	probably benign	Het
Prune2	T	C	19: 17,100,469 (GRCm39)	V1991A	probably benign	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Serinc3	T	C	2: 163,467,446 (GRCm39)	K445R	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slfn8	T	C	11: 82,907,571 (GRCm39)	E324G	probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Tas2r121	A	T	6: 132,677,132 (GRCm39)	I280N	probably damaging	Het
Tbc1d7	T	C	13: 43,306,615 (GRCm39)	I242M	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tnni3k	A	T	3: 154,581,150 (GRCm39)	H600Q	probably damaging	Het
Trim66	C	T	7: 109,083,784 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Tulp3	A	T	6: 128,302,915 (GRCm39)	H301Q	possibly damaging	Het
Ubqln5	T	A	7: 103,777,948 (GRCm39)	Q292L	probably damaging	Het
Zfp454	T	C	11: 50,764,413 (GRCm39)	K229E	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
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
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

Predicted Primers

PCR Primer
(F):5'- TACCACGCGCTGCTGGAGAAATAC -3'
(R):5'- ACTGAGCTGTGCCTTTGAGCTG -3'

Sequencing Primer
(F):5'- AGCTACTGAGCAAGTGCC -3'
(R):5'- GGAATATGCAGTGTCCCCAG -3'

Posted On

2014-01-15