Mutagenetix > Incidental Mutation

Incidental Mutation 'R6783:Cdr2l'

531525

Institutional Source

Beutler Lab

Gene Symbol

Cdr2l

Ensembl Gene

ENSMUSG00000050910

Gene Name

cerebellar degeneration-related protein 2-like

Synonyms

D030068L24Rik

MMRRC Submission

044897-MU

Accession Numbers

Essential gene?

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

Stock #

R6783 (G1)

Quality Score

174.009

Status

Validated

Chromosome

Chromosomal Location

115272742-115286958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115284495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 277 (A277V)

Ref Sequence

ENSEMBL: ENSMUSP00000052096 (fasta)

Gene Model

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

AlphaFold

A2A6T1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053288
AA Change: A277V

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052096
Gene: ENSMUSG00000050910
AA Change: A277V

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

0.0772

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.8%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	A	7: 133,576,126 (GRCm39)	Q228L	probably damaging	Het
Arhgap45	A	G	10: 79,853,698 (GRCm39)	T71A	possibly damaging	Het
Bag6	T	A	17: 35,363,211 (GRCm39)	S684T	possibly damaging	Het
Bcam	C	T	7: 19,500,806 (GRCm39)	G123R	probably damaging	Het
Cdcp3	T	C	7: 130,828,493 (GRCm39)	L316P	probably damaging	Het
Clcn4	T	A	7: 7,302,181 (GRCm39)		probably benign	Het
Csnk1g1	T	A	9: 65,880,794 (GRCm39)	I72N	probably damaging	Het
Cspg4b	A	T	13: 113,456,743 (GRCm39)	K930*	probably null	Het
Ddx31	G	A	2: 28,764,188 (GRCm39)	V465I	probably benign	Het
Ddx54	C	T	5: 120,756,779 (GRCm39)	Q163*	probably null	Het
Dnmt3a	A	G	12: 3,947,406 (GRCm39)	E459G	probably damaging	Het
Dpp8	T	C	9: 64,970,844 (GRCm39)	S568P	possibly damaging	Het
Drap1	G	T	19: 5,474,219 (GRCm39)	T47K	probably damaging	Het
Epha7	G	T	4: 28,950,528 (GRCm39)	R777L	possibly damaging	Het
Far2	T	G	6: 148,052,273 (GRCm39)		probably null	Het
Fhdc1	T	C	3: 84,352,834 (GRCm39)	K797R	probably benign	Het
Gm10330	A	T	12: 23,830,094 (GRCm39)	M29K	probably damaging	Het
Grik3	A	T	4: 125,526,093 (GRCm39)	I109F	probably benign	Het
Il31ra	T	C	13: 112,688,522 (GRCm39)		probably null	Het
Itga1	T	G	13: 115,133,513 (GRCm39)	I466L	probably benign	Het
Itpr2	A	T	6: 146,287,371 (GRCm39)		probably null	Het
Mical3	A	C	6: 120,935,786 (GRCm39)	L1580R	possibly damaging	Het
Or14c43	T	A	7: 86,114,835 (GRCm39)	V72D	probably damaging	Het
Or4n4	T	C	14: 50,519,644 (GRCm39)	D22G	probably benign	Het
Palb2	T	A	7: 121,726,711 (GRCm39)	E386D	probably damaging	Het
Pate8	T	A	9: 36,492,631 (GRCm39)		probably null	Het
Polm	C	A	11: 5,785,534 (GRCm39)	R175L	probably damaging	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Ptcd3	A	T	6: 71,885,627 (GRCm39)	V33D	probably benign	Het
Pwwp4c	C	T	X: 73,684,021 (GRCm39)	R355H	probably damaging	Homo
Ripk4	C	A	16: 97,549,237 (GRCm39)	R273L	probably damaging	Het
Rpap2	A	G	5: 107,803,153 (GRCm39)	T612A	probably damaging	Het
Serpinb10	A	G	1: 107,474,597 (GRCm39)	N253S	possibly damaging	Het
Sgpp1	G	C	12: 75,782,243 (GRCm39)	P32R	probably benign	Het
Sim1	T	C	10: 50,784,823 (GRCm39)	I156T	possibly damaging	Het
Ski	A	T	4: 155,245,289 (GRCm39)		probably null	Het
Spaca7b	G	A	8: 11,705,661 (GRCm39)	Q39*	probably null	Het
Tent2	G	A	13: 93,291,526 (GRCm39)	A368V	probably benign	Het
Tent2	C	G	13: 93,291,527 (GRCm39)	A372P	probably benign	Het
Trdn	C	T	10: 33,314,811 (GRCm39)	R512C	probably damaging	Het
Trim33	T	C	3: 103,259,403 (GRCm39)	Y1031H	probably damaging	Het
Use1	T	C	8: 71,821,880 (GRCm39)	L188P	probably damaging	Het
Usp34	G	A	11: 23,362,318 (GRCm39)	G1588D	probably damaging	Het
Vmn2r33	C	A	7: 7,566,797 (GRCm39)	R105L	probably benign	Het
Vmn2r53	G	A	7: 12,335,360 (GRCm39)	S100F	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
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
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'- CAGATGTGAGGATGCCTTCC -3'
(R):5'- AACGTGAGGTTGCCAGCATG -3'

Sequencing Primer
(F):5'- AACGGCTGCAGACCTTG -3'
(R):5'- TTGGCCACTATGGCATTG -3'

Posted On

2018-08-29