Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Cdcp2'

528800

Institutional Source

Beutler Lab

Gene Symbol

Cdcp2

Ensembl Gene

ENSMUSG00000047636

Gene Name

CUB domain containing protein 2

Synonyms

D030010E02Rik

MMRRC Submission

044820-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6702 (G1)

Quality Score

145.008

Status

Validated

Chromosome

Chromosomal Location

106954088-106970322 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106964283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 378 (C378R)

Ref Sequence

ENSEMBL: ENSMUSP00000061401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062495] [ENSMUST00000221740]

AlphaFold

Q8BQH6

Predicted Effect

probably benign
Transcript: ENSMUST00000062495
AA Change: C378R

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

SMART Domains

Protein: ENSMUSP00000061401
Gene: ENSMUSG00000047636
AA Change: C378R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
CUB	30	143	1.74e-42	SMART
CUB	145	255	2.37e-35	SMART
CUB	257	373	9.57e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000221740

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,497,558 (GRCm39)	Y66*	probably null	Het
Ak3	A	G	19: 29,003,627 (GRCm39)	V183A	probably damaging	Het
Ano10	G	T	9: 122,088,630 (GRCm39)	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,648,058 (GRCm39)		probably null	Het
Brpf3	A	C	17: 29,029,633 (GRCm39)	N531T	probably benign	Het
Casp2	T	C	6: 42,244,985 (GRCm39)	V128A	probably benign	Het
Cfap54	T	A	10: 92,704,596 (GRCm39)	D2828V	unknown	Het
Col6a3	T	C	1: 90,707,161 (GRCm39)	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,100,608 (GRCm39)	T93A	probably benign	Het
Ddx54	T	A	5: 120,764,568 (GRCm39)	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,376,571 (GRCm39)	S56P	probably damaging	Het
Dna2	T	A	10: 62,809,073 (GRCm39)	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,882,869 (GRCm39)	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,146,256 (GRCm39)	F296L	probably benign	Het
Fat1	A	G	8: 45,406,083 (GRCm39)	T945A	probably benign	Het
Herpud1	T	C	8: 95,119,154 (GRCm39)		probably null	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Kif26b	C	G	1: 178,744,852 (GRCm39)	S1649R	possibly damaging	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,285,031 (GRCm39)	S290P	probably benign	Het
Map4k1	T	G	7: 28,701,821 (GRCm39)	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,773,525 (GRCm39)	C134S	possibly damaging	Het
Myo15a	A	G	11: 60,383,818 (GRCm39)	I1622V	probably benign	Het
Nbea	A	G	3: 55,912,923 (GRCm39)	Y955H	probably benign	Het
Ndor1	A	G	2: 25,139,902 (GRCm39)	F142S	possibly damaging	Het
Nynrin	A	G	14: 56,101,935 (GRCm39)	T535A	possibly damaging	Het
Or4k15	A	G	14: 50,364,688 (GRCm39)	Y218C	probably damaging	Het
Or4k42	T	A	2: 111,320,454 (GRCm39)		probably null	Het
Or5ac23	C	T	16: 59,148,961 (GRCm39)	V304I	probably benign	Het
Or5d46	G	A	2: 88,170,586 (GRCm39)	V226I	probably benign	Het
Or8b51	A	T	9: 38,569,073 (GRCm39)	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,577,828 (GRCm39)	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,474,959 (GRCm39)	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Per2	C	T	1: 91,355,671 (GRCm39)	E696K	probably damaging	Het
Pld4	T	C	12: 112,731,485 (GRCm39)	S213P	probably damaging	Het
Prkg1	T	A	19: 30,970,484 (GRCm39)	H209L	probably benign	Het
Psg16	T	C	7: 16,824,321 (GRCm39)	L35P	probably damaging	Het
Pxn	C	T	5: 115,689,955 (GRCm39)	L160F	probably benign	Het
Rab3a	A	G	8: 71,209,095 (GRCm39)	D77G	probably damaging	Het
Resf1	T	A	6: 149,229,376 (GRCm39)	N807K	probably damaging	Het
Rgma	A	T	7: 73,067,068 (GRCm39)	T108S	probably damaging	Het
Rxrg	A	G	1: 167,441,374 (GRCm39)	S51G	probably benign	Het
S1pr3	A	T	13: 51,573,475 (GRCm39)	I219F	probably damaging	Het
Sec23b	A	T	2: 144,401,109 (GRCm39)		probably null	Het
Sfrp5	G	T	19: 42,190,266 (GRCm39)	T62K	probably benign	Het
Slco1a6	T	A	6: 142,048,826 (GRCm39)	Y318F	probably damaging	Het
Slit1	A	C	19: 41,603,309 (GRCm39)	S931A	possibly damaging	Het
Sorl1	A	T	9: 41,982,497 (GRCm39)	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,575,213 (GRCm39)	S209P	probably benign	Het
Supt6	C	A	11: 78,122,626 (GRCm39)	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,636,347 (GRCm39)	M234R	probably benign	Het
Tmem72	C	G	6: 116,675,310 (GRCm39)	V61L	probably benign	Het
Trpm5	C	A	7: 142,623,055 (GRCm39)		probably benign	Het
Ttn	T	G	2: 76,550,456 (GRCm39)	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210 (GRCm39)		probably benign	Het
Ubr3	A	T	2: 69,786,393 (GRCm39)	R836W	probably benign	Het
Umodl1	A	G	17: 31,205,273 (GRCm39)		probably null	Het
Ythdf1	A	G	2: 180,560,926 (GRCm39)		probably null	Het
Zfp780b	T	C	7: 27,671,066 (GRCm39)	T81A	possibly damaging	Het
Zfp811	T	C	17: 33,016,816 (GRCm39)	E407G	probably damaging	Het

Other mutations in Cdcp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Cdcp2	APN	4	106,964,308 (GRCm39)	missense	probably benign
IGL02041:Cdcp2	APN	4	106,964,386 (GRCm39)	intron	probably benign
IGL03396:Cdcp2	APN	4	106,964,369 (GRCm39)	nonsense	probably null
R0128:Cdcp2	UTSW	4	106,963,904 (GRCm39)	splice site	probably benign
R0130:Cdcp2	UTSW	4	106,963,904 (GRCm39)	splice site	probably benign
R0519:Cdcp2	UTSW	4	106,964,389 (GRCm39)	intron	probably benign
R0543:Cdcp2	UTSW	4	106,954,873 (GRCm39)	splice site	probably null
R1376:Cdcp2	UTSW	4	106,959,956 (GRCm39)	missense	possibly damaging	0.93
R1376:Cdcp2	UTSW	4	106,959,956 (GRCm39)	missense	possibly damaging	0.93
R1606:Cdcp2	UTSW	4	106,959,710 (GRCm39)	missense	probably damaging	1.00
R1866:Cdcp2	UTSW	4	106,964,197 (GRCm39)	missense	probably damaging	0.99
R1887:Cdcp2	UTSW	4	106,959,899 (GRCm39)	missense	probably damaging	1.00
R2944:Cdcp2	UTSW	4	106,959,755 (GRCm39)	missense	possibly damaging	0.88
R4620:Cdcp2	UTSW	4	106,963,927 (GRCm39)	missense	probably damaging	0.99
R4816:Cdcp2	UTSW	4	106,963,969 (GRCm39)	missense	probably damaging	1.00
R5298:Cdcp2	UTSW	4	106,964,182 (GRCm39)	missense	probably benign	0.01
R5646:Cdcp2	UTSW	4	106,962,339 (GRCm39)	missense	probably damaging	1.00
R5979:Cdcp2	UTSW	4	106,962,478 (GRCm39)	missense	probably damaging	1.00
R6062:Cdcp2	UTSW	4	106,959,689 (GRCm39)	missense	probably damaging	1.00
R8114:Cdcp2	UTSW	4	106,962,555 (GRCm39)	missense	probably damaging	0.99
R8472:Cdcp2	UTSW	4	106,959,981 (GRCm39)	missense	probably damaging	0.99
R9291:Cdcp2	UTSW	4	106,964,053 (GRCm39)	missense	probably damaging	1.00
R9726:Cdcp2	UTSW	4	106,959,936 (GRCm39)	missense	probably damaging	1.00
R9801:Cdcp2	UTSW	4	106,964,262 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- ATCTGGCAGCCTTTGATGGG -3'
(R):5'- TGTGCATCAGTCCTGGAAAC -3'

Sequencing Primer
(F):5'- GCCTTTGATGGGGCCAG -3'
(R):5'- TCAAATATCCAAGAGGCAGAGAGC -3'

Posted On

2018-07-24