Mutagenetix > Incidental Mutation

Incidental Mutation 'R4553:Cand2'

341779

Institutional Source

Beutler Lab

Gene Symbol

Cand2

Ensembl Gene

ENSMUSG00000030319

Gene Name

cullin associated and neddylation dissociated 2 (putative)

Synonyms

Tp120b, 2210404G23Rik

MMRRC Submission

041595-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4553 (G1)

Quality Score

187

Status

Not validated

Chromosome

Chromosomal Location

115751518-115782516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115769172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 661 (R661S)

Ref Sequence

ENSEMBL: ENSMUSP00000075377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075995]

AlphaFold

Q6ZQ73

Predicted Effect

probably damaging
Transcript: ENSMUST00000075995
AA Change: R661S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075377
Gene: ENSMUSG00000030319
AA Change: R661S

Domain	Start	End	E-Value	Type
low complexity region	325	347	N/A	INTRINSIC
low complexity region	536	548	N/A	INTRINSIC
low complexity region	553	562	N/A	INTRINSIC
low complexity region	665	686	N/A	INTRINSIC
low complexity region	736	748	N/A	INTRINSIC
Pfam:HEAT	861	890	4.4e-5	PFAM
Pfam:TIP120	1044	1209	6e-64	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	T	C	5: 114,951,254 (GRCm39)	Y49C	probably damaging	Het
Adat1	T	C	8: 112,716,912 (GRCm39)	T32A	probably damaging	Het
Adra2a	T	C	19: 54,035,166 (GRCm39)	V174A	possibly damaging	Het
Armcx5	T	A	X: 134,647,256 (GRCm39)	V444D	probably damaging	Het
Cd274	T	C	19: 29,357,848 (GRCm39)	V180A	probably benign	Het
Crat	T	C	2: 30,298,229 (GRCm39)	T157A	probably benign	Het
Cts6	G	A	13: 61,345,407 (GRCm39)	P230L	probably damaging	Het
Dppa2	A	G	16: 48,130,877 (GRCm39)	Y3C	possibly damaging	Het
Epgn	A	T	5: 91,175,421 (GRCm39)	K14*	probably null	Het
Garin1a	A	G	6: 29,287,705 (GRCm39)	I210M	probably benign	Het
Gsap	A	T	5: 21,495,569 (GRCm39)	D79V	probably damaging	Het
Hgfac	T	A	5: 35,200,200 (GRCm39)	C130S	probably damaging	Het
Ifi35	T	C	11: 101,348,717 (GRCm39)	V188A	probably damaging	Het
Iqsec2	A	G	X: 150,994,277 (GRCm39)	H585R	probably benign	Het
Itih4	T	C	14: 30,622,910 (GRCm39)	L842P	probably damaging	Het
Kif3a	C	A	11: 53,469,745 (GRCm39)	L119I	possibly damaging	Het
Lrp2	T	C	2: 69,343,629 (GRCm39)	D910G	probably benign	Het
Lyve1	T	C	7: 110,451,567 (GRCm39)		probably null	Het
Mtss2	A	G	8: 111,465,137 (GRCm39)	T464A	probably damaging	Het
Mx2	A	G	16: 97,353,205 (GRCm39)	T398A	possibly damaging	Het
Nlrp4e	T	C	7: 23,020,404 (GRCm39)	M297T	probably benign	Het
Nog	A	G	11: 89,192,248 (GRCm39)	L200P	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Papolb	T	C	5: 142,514,933 (GRCm39)	I237V	probably benign	Het
Phf11b	G	A	14: 59,578,734 (GRCm39)	P11S	probably benign	Het
Plcb1	T	C	2: 135,177,413 (GRCm39)	S582P	probably benign	Het
Pld1	G	T	3: 28,178,851 (GRCm39)	R915L	probably benign	Het
Sell	C	T	1: 163,899,685 (GRCm39)	T34I	probably benign	Het
Slc34a1	G	A	13: 55,559,874 (GRCm39)		probably null	Het
Slc8b1	T	C	5: 120,667,663 (GRCm39)	V432A	probably damaging	Het
Tipin	T	A	9: 64,195,385 (GRCm39)		probably null	Het
Vmn1r117	A	T	7: 20,617,517 (GRCm39)	F177Y	probably damaging	Het
Xab2	T	C	8: 3,661,015 (GRCm39)	T700A	probably benign	Het

Other mutations in Cand2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Cand2	APN	6	115,762,086 (GRCm39)	missense	probably benign
IGL01329:Cand2	APN	6	115,759,755 (GRCm39)	missense	probably benign	0.43
IGL01777:Cand2	APN	6	115,769,818 (GRCm39)	missense	probably damaging	0.99
IGL02008:Cand2	APN	6	115,780,599 (GRCm39)	missense	probably damaging	1.00
IGL02185:Cand2	APN	6	115,766,471 (GRCm39)	missense	probably benign	0.01
IGL02219:Cand2	APN	6	115,780,773 (GRCm39)	missense	probably damaging	1.00
IGL02240:Cand2	APN	6	115,780,623 (GRCm39)	missense	probably damaging	1.00
IGL02329:Cand2	APN	6	115,766,568 (GRCm39)	missense	probably damaging	1.00
IGL02396:Cand2	APN	6	115,768,149 (GRCm39)	splice site	probably benign
IGL02893:Cand2	APN	6	115,768,921 (GRCm39)	missense	probably damaging	1.00
IGL03161:Cand2	APN	6	115,769,698 (GRCm39)	missense	probably benign	0.45
IGL03170:Cand2	APN	6	115,774,861 (GRCm39)	missense	probably damaging	1.00
IGL03257:Cand2	APN	6	115,776,944 (GRCm39)	missense	possibly damaging	0.80
succor	UTSW	6	115,768,153 (GRCm39)	missense	probably damaging	1.00
R0196:Cand2	UTSW	6	115,766,463 (GRCm39)	missense	probably damaging	1.00
R0390:Cand2	UTSW	6	115,751,614 (GRCm39)	missense	possibly damaging	0.90
R0534:Cand2	UTSW	6	115,764,197 (GRCm39)	missense	probably damaging	0.96
R0630:Cand2	UTSW	6	115,780,766 (GRCm39)	missense	probably damaging	1.00
R0631:Cand2	UTSW	6	115,780,766 (GRCm39)	missense	probably damaging	1.00
R0662:Cand2	UTSW	6	115,764,171 (GRCm39)	missense	probably benign	0.00
R0671:Cand2	UTSW	6	115,780,766 (GRCm39)	missense	probably damaging	1.00
R0708:Cand2	UTSW	6	115,780,766 (GRCm39)	missense	probably damaging	1.00
R0849:Cand2	UTSW	6	115,769,352 (GRCm39)	missense	probably damaging	1.00
R1992:Cand2	UTSW	6	115,762,093 (GRCm39)	missense	possibly damaging	0.88
R3428:Cand2	UTSW	6	115,766,668 (GRCm39)	missense	probably benign
R3773:Cand2	UTSW	6	115,762,178 (GRCm39)	missense	probably damaging	0.96
R4329:Cand2	UTSW	6	115,776,949 (GRCm39)	missense	possibly damaging	0.64
R4489:Cand2	UTSW	6	115,766,427 (GRCm39)	missense	probably damaging	1.00
R4577:Cand2	UTSW	6	115,768,220 (GRCm39)	missense	probably damaging	1.00
R4634:Cand2	UTSW	6	115,774,948 (GRCm39)	missense	probably damaging	1.00
R4850:Cand2	UTSW	6	115,778,909 (GRCm39)	missense	probably benign	0.14
R5155:Cand2	UTSW	6	115,769,219 (GRCm39)	missense	probably benign	0.42
R5190:Cand2	UTSW	6	115,766,474 (GRCm39)	missense	probably damaging	1.00
R5378:Cand2	UTSW	6	115,778,912 (GRCm39)	missense	probably benign	0.00
R5407:Cand2	UTSW	6	115,762,161 (GRCm39)	missense	possibly damaging	0.76
R5698:Cand2	UTSW	6	115,768,704 (GRCm39)	missense	probably damaging	1.00
R5701:Cand2	UTSW	6	115,774,893 (GRCm39)	missense	probably damaging	0.99
R6172:Cand2	UTSW	6	115,768,271 (GRCm39)	missense	probably benign	0.00
R6763:Cand2	UTSW	6	115,776,930 (GRCm39)	missense	probably benign	0.00
R6920:Cand2	UTSW	6	115,768,250 (GRCm39)	missense	possibly damaging	0.93
R7229:Cand2	UTSW	6	115,768,153 (GRCm39)	missense	probably damaging	1.00
R7520:Cand2	UTSW	6	115,762,212 (GRCm39)	nonsense	probably null
R8183:Cand2	UTSW	6	115,768,879 (GRCm39)	missense	probably benign	0.14
R8698:Cand2	UTSW	6	115,763,852 (GRCm39)	missense	probably damaging	1.00
R8755:Cand2	UTSW	6	115,769,941 (GRCm39)	missense	probably damaging	1.00
R8795:Cand2	UTSW	6	115,763,889 (GRCm39)	missense	probably benign	0.01
R8900:Cand2	UTSW	6	115,757,894 (GRCm39)	missense	probably benign	0.00
R9072:Cand2	UTSW	6	115,769,490 (GRCm39)	missense	probably damaging	0.99
R9242:Cand2	UTSW	6	115,768,923 (GRCm39)	missense	probably benign	0.27
R9262:Cand2	UTSW	6	115,759,730 (GRCm39)	missense	probably benign	0.27
R9547:Cand2	UTSW	6	115,759,757 (GRCm39)	missense	probably benign	0.00
R9676:Cand2	UTSW	6	115,769,122 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TGTCGGAGAGATGTCCACAG -3'
(R):5'- TCACTGTGGTGAGGAAGTCGAC -3'

Sequencing Primer
(F):5'- TGAAGGAACGGGCCATCTCTTG -3'
(R):5'- GGAAGTCGACAGCCAGC -3'

Posted On

2015-09-24