Mutagenetix > Incidental Mutation

Incidental Mutation 'R8684:Cdcp3'

661945

Institutional Source

Beutler Lab

Gene Symbol

Cdcp3

Ensembl Gene

ENSMUSG00000006204

Gene Name

CUB domain containing protein 3

Synonyms

5430419D17Rik

MMRRC Submission

068539-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8684 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130776131-130908180 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 130837688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 528 (S528*)

Ref Sequence

ENSEMBL: ENSMUSP00000150784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050586] [ENSMUST00000124096] [ENSMUST00000208921]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050586

SMART Domains

Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	85	105	N/A	INTRINSIC
SR	144	244	3.3e-57	SMART
CUB	272	378	1.2e-16	SMART
SR	428	528	3.9e-56	SMART
low complexity region	533	548	N/A	INTRINSIC
CUB	556	667	5.1e-38	SMART
SR	680	780	1.5e-57	SMART
Pfam:CUB	795	840	3.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128522

Predicted Effect

probably null
Transcript: ENSMUST00000208921
AA Change: S528*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	C	T	7: 42,097,413 (GRCm39)	R27H	probably benign	Het
Abca2	T	A	2: 25,336,508 (GRCm39)	L2229Q	possibly damaging	Het
Adamts4	A	T	1: 171,086,541 (GRCm39)	T778S	probably damaging	Het
AY358078	T	G	14: 52,059,597 (GRCm39)	Y311*	probably null	Het
Catsperg1	C	T	7: 28,897,825 (GRCm39)	V181M	probably damaging	Het
Cep70	A	G	9: 99,145,842 (GRCm39)	K170E	possibly damaging	Het
Coro1b	T	A	19: 4,199,527 (GRCm39)	V62E	probably damaging	Het
Dnajc11	T	C	4: 152,065,183 (GRCm39)	*560Q	probably null	Het
Eci3	T	C	13: 35,143,874 (GRCm39)	N84D	probably damaging	Het
F5	T	A	1: 164,045,111 (GRCm39)	V2133E	probably benign	Het
Fancl	C	A	11: 26,420,826 (GRCm39)	P116Q		Het
Gm10801	ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC	ATTTTCAGTTTTC	2: 98,492,669 (GRCm39)		probably null	Het
Golgb1	C	T	16: 36,734,764 (GRCm39)	T1378M	possibly damaging	Het
Hdac5	T	C	11: 102,096,147 (GRCm39)	N342S	probably benign	Het
Herc3	A	G	6: 58,864,561 (GRCm39)	K732E	probably damaging	Het
Lce1e	A	T	3: 92,615,269 (GRCm39)	I26N	unknown	Het
Lingo1	T	C	9: 56,528,106 (GRCm39)	Y167C	probably damaging	Het
Loxl3	A	G	6: 83,012,566 (GRCm39)	E35G	probably benign	Het
Mmp13	A	G	9: 7,282,089 (GRCm39)	M464V	possibly damaging	Het
Mov10	T	C	3: 104,711,690 (GRCm39)	H199R	probably benign	Het
Nbas	A	G	12: 13,386,368 (GRCm39)	T765A	probably damaging	Het
Nlgn3	C	T	X: 100,363,425 (GRCm39)	R679*	probably null	Het
Nrp1	C	T	8: 129,085,885 (GRCm39)		probably benign	Het
Nup88	C	A	11: 70,860,687 (GRCm39)	V31L	probably benign	Het
Or2r11	T	C	6: 42,437,827 (GRCm39)	N42S	probably damaging	Het
Or5d39	T	C	2: 87,979,872 (GRCm39)	T164A	probably benign	Het
Or7a36	A	T	10: 78,820,212 (GRCm39)	D196V	probably benign	Het
Pah	A	G	10: 87,414,827 (GRCm39)	N393S	probably benign	Het
Peli3	T	C	19: 4,985,022 (GRCm39)	Y163C	probably damaging	Het
Rasgef1b	A	T	5: 99,524,994 (GRCm39)	M55K	probably benign	Het
Ror2	T	C	13: 53,264,302 (GRCm39)	D930G	possibly damaging	Het
Rpgrip1l	T	G	8: 92,000,329 (GRCm39)	M537L	probably benign	Het
Ryr2	A	T	13: 11,702,875 (GRCm39)	V2871E	probably damaging	Het
Smco1	A	T	16: 32,092,841 (GRCm39)	N171Y	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sox2	T	A	3: 34,705,016 (GRCm39)	L151Q	probably benign	Het
Spink5	A	G	18: 44,143,305 (GRCm39)	E754G	probably benign	Het
Sulf1	A	T	1: 12,867,004 (GRCm39)	M63L	probably benign	Het
Traf2	A	G	2: 25,410,458 (GRCm39)	M390T	probably damaging	Het
Trav13d-4	T	C	14: 53,310,266 (GRCm39)	V16A	probably damaging	Het
Trmo	C	T	4: 46,386,251 (GRCm39)	W84*	probably null	Het
Trmo	T	C	4: 46,386,253 (GRCm39)		probably null	Het
Ttyh1	T	A	7: 4,133,791 (GRCm39)		probably benign	Het
Ush2a	A	G	1: 188,643,220 (GRCm39)	N4194S	possibly damaging	Het
Vmn2r45	T	C	7: 8,486,511 (GRCm39)	Y259C	probably damaging	Het
Vmn2r94	T	A	17: 18,497,912 (GRCm39)		probably benign	Het
Zfp101	A	G	17: 33,600,977 (GRCm39)	S260P	possibly damaging	Het

Other mutations in Cdcp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Cdcp3	APN	7	130,839,823 (GRCm39)	splice site	probably null
IGL00848:Cdcp3	APN	7	130,848,453 (GRCm39)	missense	probably damaging	1.00
IGL00966:Cdcp3	APN	7	130,844,836 (GRCm39)	nonsense	probably null
IGL01286:Cdcp3	APN	7	130,848,432 (GRCm39)	missense	probably damaging	1.00
IGL01303:Cdcp3	APN	7	130,796,060 (GRCm39)	missense	possibly damaging	0.53
IGL01585:Cdcp3	APN	7	130,846,487 (GRCm39)	missense	probably damaging	0.97
IGL01665:Cdcp3	APN	7	130,848,386 (GRCm39)	nonsense	probably null
IGL01953:Cdcp3	APN	7	130,826,709 (GRCm39)	missense	probably benign	0.04
IGL02427:Cdcp3	APN	7	130,846,517 (GRCm39)	missense	probably damaging	0.99
IGL02508:Cdcp3	APN	7	130,824,559 (GRCm39)	missense	probably damaging	1.00
IGL02678:Cdcp3	APN	7	130,830,646 (GRCm39)	missense	probably damaging	1.00
IGL03092:Cdcp3	APN	7	130,803,527 (GRCm39)	critical splice donor site	probably null
IGL03122:Cdcp3	APN	7	130,798,243 (GRCm39)	missense	possibly damaging	0.68
IGL03343:Cdcp3	APN	7	130,848,420 (GRCm39)	missense	probably damaging	1.00
R0011:Cdcp3	UTSW	7	130,831,722 (GRCm39)	missense	probably damaging	0.99
R0011:Cdcp3	UTSW	7	130,831,722 (GRCm39)	missense	probably damaging	0.99
R0234:Cdcp3	UTSW	7	130,796,032 (GRCm39)	splice site	probably null
R0234:Cdcp3	UTSW	7	130,796,032 (GRCm39)	splice site	probably null
R0268:Cdcp3	UTSW	7	130,839,905 (GRCm39)	missense	probably damaging	1.00
R0383:Cdcp3	UTSW	7	130,841,268 (GRCm39)	missense	probably benign	0.05
R0973:Cdcp3	UTSW	7	130,839,911 (GRCm39)	missense	probably damaging	1.00
R0973:Cdcp3	UTSW	7	130,839,911 (GRCm39)	missense	probably damaging	1.00
R0974:Cdcp3	UTSW	7	130,839,911 (GRCm39)	missense	probably damaging	1.00
R1572:Cdcp3	UTSW	7	130,846,560 (GRCm39)	nonsense	probably null
R1911:Cdcp3	UTSW	7	130,839,818 (GRCm39)	missense	probably damaging	1.00
R2032:Cdcp3	UTSW	7	130,844,781 (GRCm39)	missense	probably damaging	1.00
R2097:Cdcp3	UTSW	7	130,783,693 (GRCm39)	nonsense	probably null
R2221:Cdcp3	UTSW	7	130,849,186 (GRCm39)	critical splice acceptor site	probably null
R2223:Cdcp3	UTSW	7	130,849,186 (GRCm39)	critical splice acceptor site	probably null
R2254:Cdcp3	UTSW	7	130,824,634 (GRCm39)	missense	probably damaging	1.00
R2913:Cdcp3	UTSW	7	130,783,753 (GRCm39)	missense	possibly damaging	0.90
R2991:Cdcp3	UTSW	7	130,848,429 (GRCm39)	missense	probably damaging	1.00
R3439:Cdcp3	UTSW	7	130,790,508 (GRCm39)	critical splice donor site	probably null
R4418:Cdcp3	UTSW	7	130,849,194 (GRCm39)	missense	possibly damaging	0.86
R4916:Cdcp3	UTSW	7	130,776,206 (GRCm39)	splice site	probably null
R5488:Cdcp3	UTSW	7	130,848,324 (GRCm39)	missense	probably damaging	1.00
R5594:Cdcp3	UTSW	7	130,841,252 (GRCm39)	missense	probably benign	0.12
R5897:Cdcp3	UTSW	7	130,798,280 (GRCm39)	splice site	probably null
R5898:Cdcp3	UTSW	7	130,843,696 (GRCm39)	splice site	probably null
R5940:Cdcp3	UTSW	7	130,839,992 (GRCm39)	missense	probably damaging	1.00
R6170:Cdcp3	UTSW	7	130,776,216 (GRCm39)	splice site	probably null
R6187:Cdcp3	UTSW	7	130,872,328 (GRCm39)	intron	probably benign
R6321:Cdcp3	UTSW	7	130,858,735 (GRCm39)	critical splice donor site	probably null
R6409:Cdcp3	UTSW	7	130,863,800 (GRCm39)	intron	probably benign
R6432:Cdcp3	UTSW	7	130,846,601 (GRCm39)	critical splice donor site	probably null
R6481:Cdcp3	UTSW	7	130,858,530 (GRCm39)	missense	probably benign	0.05
R6750:Cdcp3	UTSW	7	130,889,974 (GRCm39)	intron	probably benign
R6783:Cdcp3	UTSW	7	130,828,493 (GRCm39)	missense	probably damaging	0.99
R6836:Cdcp3	UTSW	7	130,798,233 (GRCm39)	missense	possibly damaging	0.84
R6925:Cdcp3	UTSW	7	130,824,436 (GRCm39)	missense	possibly damaging	0.92
R6995:Cdcp3	UTSW	7	130,824,400 (GRCm39)	missense	probably damaging	1.00
R7199:Cdcp3	UTSW	7	130,837,641 (GRCm39)	nonsense	probably null
R7205:Cdcp3	UTSW	7	130,879,352 (GRCm39)	critical splice donor site	probably null
R7340:Cdcp3	UTSW	7	130,879,344 (GRCm39)	missense	unknown
R7354:Cdcp3	UTSW	7	130,873,762 (GRCm39)	missense	unknown
R7354:Cdcp3	UTSW	7	130,858,458 (GRCm39)	missense	possibly damaging	0.84
R7434:Cdcp3	UTSW	7	130,881,212 (GRCm39)	missense	unknown
R7485:Cdcp3	UTSW	7	130,830,562 (GRCm39)	missense	probably damaging	0.99
R7513:Cdcp3	UTSW	7	130,873,800 (GRCm39)	missense	unknown
R7562:Cdcp3	UTSW	7	130,904,426 (GRCm39)	missense	unknown
R7623:Cdcp3	UTSW	7	130,879,295 (GRCm39)	splice site	probably null
R7782:Cdcp3	UTSW	7	130,904,466 (GRCm39)	splice site	probably null
R7879:Cdcp3	UTSW	7	130,844,871 (GRCm39)	missense	probably damaging	0.98
R7935:Cdcp3	UTSW	7	130,852,205 (GRCm39)	missense	probably damaging	0.96
R7949:Cdcp3	UTSW	7	130,895,324 (GRCm39)	splice site	probably null
R7964:Cdcp3	UTSW	7	130,899,963 (GRCm39)	missense	unknown
R7980:Cdcp3	UTSW	7	130,836,506 (GRCm39)	missense	probably damaging	0.98
R8145:Cdcp3	UTSW	7	130,898,045 (GRCm39)	missense	unknown
R8673:Cdcp3	UTSW	7	130,844,846 (GRCm39)	missense	probably damaging	0.99
R8721:Cdcp3	UTSW	7	130,879,335 (GRCm39)	missense	unknown
R8725:Cdcp3	UTSW	7	130,875,485 (GRCm39)	missense	unknown
R8727:Cdcp3	UTSW	7	130,875,485 (GRCm39)	missense	unknown
R8742:Cdcp3	UTSW	7	130,783,741 (GRCm39)	missense	unknown
R8807:Cdcp3	UTSW	7	130,846,507 (GRCm39)	missense	probably damaging	0.97
R8822:Cdcp3	UTSW	7	130,843,706 (GRCm39)	critical splice acceptor site	probably null
R8861:Cdcp3	UTSW	7	130,861,690 (GRCm39)	nonsense	probably null
R8897:Cdcp3	UTSW	7	130,867,566 (GRCm39)	missense	unknown
R8900:Cdcp3	UTSW	7	130,904,197 (GRCm39)	intron	probably benign
R9214:Cdcp3	UTSW	7	130,824,481 (GRCm39)	missense	possibly damaging	0.89
R9218:Cdcp3	UTSW	7	130,863,728 (GRCm39)	missense	unknown
R9311:Cdcp3	UTSW	7	130,859,490 (GRCm39)	missense	unknown
R9323:Cdcp3	UTSW	7	130,828,401 (GRCm39)	missense	probably damaging	0.96
R9384:Cdcp3	UTSW	7	130,904,404 (GRCm39)	missense	unknown
R9387:Cdcp3	UTSW	7	130,863,620 (GRCm39)	missense	unknown
R9417:Cdcp3	UTSW	7	130,852,218 (GRCm39)	missense	possibly damaging	0.60
R9502:Cdcp3	UTSW	7	130,836,815 (GRCm39)	missense	possibly damaging	0.61
R9603:Cdcp3	UTSW	7	130,830,643 (GRCm39)	missense	probably damaging	0.98
R9642:Cdcp3	UTSW	7	130,848,257 (GRCm39)	missense	probably benign	0.01
Z1088:Cdcp3	UTSW	7	130,848,362 (GRCm39)	missense	probably damaging	1.00
Z1177:Cdcp3	UTSW	7	130,867,595 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGACCTGTGGGACCTGAATG -3'
(R):5'- TGTAGATGCTACACAGATGCAG -3'

Sequencing Primer
(F):5'- CCTGAATGAAGCTGAAGTCATATGC -3'
(R):5'- AGTCTGGAAGTTCACTGCAGCTC -3'

Posted On

2021-03-08