Mutagenetix > Incidental Mutation

Incidental Mutation 'R8849:Cul2'

674909

Institutional Source

Beutler Lab

Gene Symbol

Cul2

Ensembl Gene

ENSMUSG00000024231

Gene Name

cullin 2

Synonyms

4932411N15Rik, 1300003D18Rik

MMRRC Submission

068672-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R8849 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3382988-3436377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3423551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 320 (H320Q)

Ref Sequence

ENSEMBL: ENSMUSP00000125403 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025073] [ENSMUST00000080089] [ENSMUST00000161317] [ENSMUST00000162301]

AlphaFold

Q9D4H8

Predicted Effect

probably benign
Transcript: ENSMUST00000025073
AA Change: H320Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025073
Gene: ENSMUSG00000024231
AA Change: H320Q

Domain	Start	End	E-Value	Type
SCOP:d1ldja2	11	386	1e-109	SMART
CULLIN	416	568	1.19e-84	SMART
low complexity region	636	646	N/A	INTRINSIC
Pfam:Cullin_Nedd8	651	700	9.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080089

SMART Domains

Protein: ENSMUSP00000078988
Gene: ENSMUSG00000024231

Domain	Start	End	E-Value	Type
Pfam:Cullin	14	88	2.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161317
AA Change: H257Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000123903
Gene: ENSMUSG00000024231
AA Change: H257Q

Domain	Start	End	E-Value	Type
CULLIN	353	505	1.19e-84	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162301
AA Change: H320Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125403
Gene: ENSMUSG00000024231
AA Change: H320Q

Domain	Start	End	E-Value	Type
SCOP:d1ldja2	11	386	1e-108	SMART
CULLIN	416	568	1.19e-84	SMART
low complexity region	636	646	N/A	INTRINSIC
Cullin_Nedd8	672	739	1.01e-33	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	G	A	16: 14,439,376 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,669,324 (GRCm39)	T2411A	probably benign	Het
Aldh5a1	T	A	13: 25,121,464 (GRCm39)	T30S	probably benign	Het
Alg1	G	A	16: 5,051,532 (GRCm39)	A7T	possibly damaging	Het
Ano10	T	A	9: 122,090,510 (GRCm39)	M268L	probably benign	Het
Avil	T	C	10: 126,844,661 (GRCm39)	V264A	possibly damaging	Het
Bicc1	T	A	10: 70,782,694 (GRCm39)	I558F	probably benign	Het
Bst1	A	T	5: 43,977,927 (GRCm39)	H92L	possibly damaging	Het
C1s2	T	C	6: 124,602,754 (GRCm39)	N486D	probably benign	Het
Carmil3	A	T	14: 55,734,627 (GRCm39)	H452L	probably benign	Het
Ccser1	T	A	6: 61,288,537 (GRCm39)	D233E	probably benign	Het
Ceacam18	G	T	7: 43,294,967 (GRCm39)	L342F	probably benign	Het
Cep95	T	A	11: 106,707,630 (GRCm39)	M691K		Het
Cfap221	G	A	1: 119,922,874 (GRCm39)	P23S	probably damaging	Het
Ciao2b	C	T	8: 105,367,599 (GRCm39)		probably null	Het
Col20a1	T	C	2: 180,640,432 (GRCm39)	Y572H	probably damaging	Het
Cr2	C	T	1: 194,839,547 (GRCm39)	V627M	probably damaging	Het
Ddx5	A	T	11: 106,675,975 (GRCm39)	V266E	probably damaging	Het
Dgkd	T	C	1: 87,846,365 (GRCm39)	V336A	probably damaging	Het
Dnah6	T	C	6: 73,121,156 (GRCm39)		probably null	Het
Dnhd1	C	A	7: 105,370,723 (GRCm39)	Q4668K	probably benign	Het
Dock7	C	T	4: 98,904,986 (GRCm39)	E630K		Het
Dolk	T	C	2: 30,174,935 (GRCm39)	E370G	probably damaging	Het
Ercc6	T	A	14: 32,291,565 (GRCm39)	L1003Q	probably damaging	Het
Foxc1	T	C	13: 31,992,817 (GRCm39)	S543P	unknown	Het
Gbp2b	A	C	3: 142,313,913 (GRCm39)	M398L	probably benign	Het
Gigyf2	G	T	1: 87,361,592 (GRCm39)	R908L	unknown	Het
Gpr176	T	A	2: 118,110,095 (GRCm39)	E388V	probably damaging	Het
Gpx8	C	T	13: 113,179,704 (GRCm39)	G199E	probably benign	Het
Gtf2a1l	A	G	17: 89,001,566 (GRCm39)	T141A	possibly damaging	Het
Ifi208	G	A	1: 173,506,184 (GRCm39)		probably benign	Het
Itgad	T	A	7: 127,789,157 (GRCm39)		probably benign	Het
Kif20b	C	T	19: 34,915,716 (GRCm39)	Q498*	probably null	Het
Lmo7	T	C	14: 102,163,543 (GRCm39)	Y1463H	unknown	Het
Mms19	A	T	19: 41,952,767 (GRCm39)	L114Q	probably damaging	Het
Mogs	T	C	6: 83,094,986 (GRCm39)	V601A	possibly damaging	Het
Mybpc1	T	A	10: 88,407,447 (GRCm39)	M87L	probably benign	Het
Nhlrc2	T	C	19: 56,580,184 (GRCm39)	V439A	possibly damaging	Het
Npc1l1	T	A	11: 6,179,038 (GRCm39)	H124L	probably damaging	Het
Opn4	A	G	14: 34,318,986 (GRCm39)	W200R	probably damaging	Het
Or2b2b	T	C	13: 21,858,226 (GRCm39)	E296G	possibly damaging	Het
Pax2	T	C	19: 44,749,111 (GRCm39)		probably benign	Het
Phf20	G	T	2: 156,118,440 (GRCm39)	Q381H	probably damaging	Het
Pramel25	A	G	4: 143,521,596 (GRCm39)	N404S	probably damaging	Het
Pramel32	T	A	4: 88,546,014 (GRCm39)	T443S	probably benign	Het
Pramel34	A	T	5: 93,784,197 (GRCm39)	H422Q	probably benign	Het
Rb1	C	T	14: 73,434,709 (GRCm39)	R903Q	probably damaging	Het
Scamp4	T	A	10: 80,445,266 (GRCm39)	V37E	probably damaging	Het
Sema3e	T	C	5: 14,302,673 (GRCm39)	W733R	probably damaging	Het
Sertm1	A	G	3: 54,806,749 (GRCm39)	V92A	possibly damaging	Het
Slc4a5	T	C	6: 83,250,180 (GRCm39)	F638L	probably damaging	Het
Tprn	T	C	2: 25,159,171 (GRCm39)	S703P	probably damaging	Het
Tulp4	T	A	17: 6,272,656 (GRCm39)	M570K	probably benign	Het
Zfp433	T	C	10: 81,556,875 (GRCm39)	I459T	probably benign	Het
Zfp697	A	G	3: 98,334,943 (GRCm39)	E236G	probably benign	Het

Other mutations in Cul2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Cul2	APN	18	3,423,487 (GRCm39)	missense	probably benign
IGL01293:Cul2	APN	18	3,419,426 (GRCm39)	missense	probably damaging	0.99
IGL02719:Cul2	APN	18	3,434,052 (GRCm39)	missense	probably damaging	1.00
IGL02886:Cul2	APN	18	3,426,920 (GRCm39)	splice site	probably benign
IGL03190:Cul2	APN	18	3,429,634 (GRCm39)	missense	possibly damaging	0.95
IGL03389:Cul2	APN	18	3,431,029 (GRCm39)	missense	probably benign	0.00
IGL03409:Cul2	APN	18	3,429,593 (GRCm39)	missense	probably damaging	1.00
R0238:Cul2	UTSW	18	3,414,115 (GRCm39)	splice site	probably benign
R1013:Cul2	UTSW	18	3,425,535 (GRCm39)	nonsense	probably null
R1119:Cul2	UTSW	18	3,419,335 (GRCm39)	splice site	probably benign
R1743:Cul2	UTSW	18	3,426,851 (GRCm39)	missense	probably damaging	1.00
R1897:Cul2	UTSW	18	3,414,164 (GRCm39)	missense	probably benign
R2252:Cul2	UTSW	18	3,399,876 (GRCm39)	missense	probably damaging	1.00
R2253:Cul2	UTSW	18	3,399,876 (GRCm39)	missense	probably damaging	1.00
R3898:Cul2	UTSW	18	3,434,033 (GRCm39)	missense	probably benign	0.07
R4386:Cul2	UTSW	18	3,434,856 (GRCm39)	missense	probably damaging	1.00
R4579:Cul2	UTSW	18	3,430,957 (GRCm39)	missense	probably benign	0.00
R4828:Cul2	UTSW	18	3,431,013 (GRCm39)	missense	probably damaging	1.00
R6085:Cul2	UTSW	18	3,431,508 (GRCm39)	missense	probably benign	0.01
R6429:Cul2	UTSW	18	3,421,345 (GRCm39)	missense	probably damaging	1.00
R6480:Cul2	UTSW	18	3,417,561 (GRCm39)	missense	possibly damaging	0.89
R6805:Cul2	UTSW	18	3,421,263 (GRCm39)	missense	probably damaging	1.00
R6825:Cul2	UTSW	18	3,434,946 (GRCm39)	missense	probably damaging	0.99
R7343:Cul2	UTSW	18	3,426,873 (GRCm39)	missense	probably benign	0.08
R7690:Cul2	UTSW	18	3,419,420 (GRCm39)	missense	probably benign	0.09
R8114:Cul2	UTSW	18	3,426,164 (GRCm39)	nonsense	probably null
R8414:Cul2	UTSW	18	3,399,912 (GRCm39)	missense	probably benign	0.08
R8736:Cul2	UTSW	18	3,434,019 (GRCm39)	missense	probably damaging	0.99
R9199:Cul2	UTSW	18	3,423,577 (GRCm39)	missense	probably benign	0.00
R9443:Cul2	UTSW	18	3,434,041 (GRCm39)	nonsense	probably null
R9709:Cul2	UTSW	18	3,431,560 (GRCm39)	missense	probably damaging	1.00
X0067:Cul2	UTSW	18	3,419,435 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- GGCAGATGGCTTTTATCCGC -3'
(R):5'- CTGTGAGGAAGAGGCTGATC -3'

Sequencing Primer
(F):5'- GCAGATGGCTTTTATCCGCATACTG -3'
(R):5'- AGGAAGCATTCTAGCTCC -3'

Posted On

2021-07-15