Mutagenetix > Incidental Mutation

Incidental Mutation 'R9726:Cdcp2'

731027

Institutional Source

Beutler Lab

Gene Symbol

Cdcp2

Ensembl Gene

ENSMUSG00000047636

Gene Name

CUB domain containing protein 2

Synonyms

D030010E02Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9726 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106954088-106970322 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106959936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 117 (S117Y)

Ref Sequence

ENSEMBL: ENSMUSP00000061401 (fasta)

Gene Model

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

AlphaFold

Q8BQH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000062495
AA Change: S117Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061401
Gene: ENSMUSG00000047636
AA Change: S117Y

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 damaging
Transcript: ENSMUST00000221740
AA Change: S117Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	C	6: 72,325,650 (GRCm39)	V122A	probably damaging	Het
Ago2	T	C	15: 72,998,919 (GRCm39)	Y226C	probably damaging	Het
Akap9	A	G	5: 4,053,757 (GRCm39)	K1574R	probably benign	Het
Apob	T	C	12: 8,056,926 (GRCm39)	Y1803H	probably damaging	Het
Atosb	T	C	4: 43,034,991 (GRCm39)	D302G	probably damaging	Het
Bex6	A	T	16: 32,005,243 (GRCm39)	D17V	probably damaging	Het
Cd72	T	G	4: 43,452,641 (GRCm39)		probably null	Het
Cenpx	A	G	11: 120,603,328 (GRCm39)	L22P	unknown	Het
Cep135	A	G	5: 76,741,151 (GRCm39)	T76A	probably benign	Het
Cps1	A	T	1: 67,195,395 (GRCm39)	Q272L	probably benign	Het
Cul4a	C	T	8: 13,156,208 (GRCm39)	P55S	probably benign	Het
Cyp2f2	C	T	7: 26,821,411 (GRCm39)	T108I	probably damaging	Het
Dapk1	T	C	13: 60,898,948 (GRCm39)	V806A	probably benign	Het
Dgki	T	C	6: 37,276,858 (GRCm39)	H9R	unknown	Het
Dmxl2	A	T	9: 54,322,996 (GRCm39)	S1289T	probably benign	Het
Dock8	T	A	19: 25,154,374 (GRCm39)	V1691D	probably damaging	Het
Dock9	A	C	14: 121,835,149 (GRCm39)	L1280R	possibly damaging	Het
Dync2h1	G	A	9: 7,077,999 (GRCm39)	S2901F	possibly damaging	Het
Fkbp8	A	G	8: 70,987,529 (GRCm39)	K380E	probably damaging	Het
Ggta1	T	C	2: 35,292,422 (GRCm39)	Y295C	probably damaging	Het
Gm7145	A	G	1: 117,913,706 (GRCm39)	N196S	possibly damaging	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Ighv11-1	T	A	12: 113,945,623 (GRCm39)	I77L	probably benign	Het
Kcnmb3	A	G	3: 32,536,512 (GRCm39)	V72A	possibly damaging	Het
Kel	C	T	6: 41,678,971 (GRCm39)	G164D	probably damaging	Het
Krba1	C	A	6: 48,389,298 (GRCm39)	T606N	possibly damaging	Het
Lig3	T	C	11: 82,674,420 (GRCm39)	L82P	possibly damaging	Het
Limd1	T	C	9: 123,308,984 (GRCm39)	S228P	probably benign	Het
Mlf2	C	T	6: 124,911,621 (GRCm39)	R157W	probably benign	Het
Naxe	T	C	3: 87,965,719 (GRCm39)	S27G	probably benign	Het
Oprm1	T	A	10: 6,929,694 (GRCm39)	C345S	probably benign	Het
Or4c108	T	A	2: 88,804,221 (GRCm39)	T5S	probably benign	Het
Or6c210	A	G	10: 129,495,920 (GRCm39)	I82V	possibly damaging	Het
Oscp1	C	A	4: 125,970,626 (GRCm39)	D138E	probably benign	Het
Panx3	T	A	9: 37,572,992 (GRCm39)	Y186F	probably damaging	Het
Pip5kl1	T	C	2: 32,473,391 (GRCm39)	Y343H	probably damaging	Het
Rasgef1b	T	C	5: 99,382,349 (GRCm39)	T214A	probably damaging	Het
Rims1	C	A	1: 22,669,493 (GRCm39)	W105L	probably null	Het
Serpina3f	C	T	12: 104,184,698 (GRCm39)	P281S	probably damaging	Het
Sgsm1	T	C	5: 113,458,418 (GRCm39)	K20R	probably benign	Het
Sigirr	A	G	7: 140,672,123 (GRCm39)	L274P	probably damaging	Het
Slc44a1	T	C	4: 53,491,410 (GRCm39)	V49A	probably benign	Het
Spata31h1	T	C	10: 82,118,605 (GRCm39)	S4802G	unknown	Het
Sstr1	G	A	12: 58,259,484 (GRCm39)	D36N	probably benign	Het
Stab2	T	A	10: 86,790,095 (GRCm39)	D557V	probably benign	Het
Topaz1	GCAGGGGGATGAGAAGGTA	G	9: 122,603,934 (GRCm39)		probably benign	Het
Topaz1	CAGGGGGATGAGAAGGTAAAG	CAG	9: 122,603,935 (GRCm39)		probably benign	Het
Trio	G	T	15: 27,912,752 (GRCm39)	Q101K	unknown	Het
Vmn1r185	T	A	7: 26,310,783 (GRCm39)	I241F	probably damaging	Het
Zfp229	T	A	17: 21,965,354 (GRCm39)	I528N	probably damaging	Het
Zfy1	A	G	Y: 725,476 (GRCm39)	F763S	possibly 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
R6702:Cdcp2	UTSW	4	106,964,283 (GRCm39)	missense	probably benign
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
R9801:Cdcp2	UTSW	4	106,964,262 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- TGTACCCCTACAACACGGAG -3'
(R):5'- TCAACAGGGCTGCTGTCTTG -3'

Sequencing Primer
(F):5'- AGTGCAGCTGGCTGATCG -3'
(R):5'- TGTCTTGCCTGAGCCCTAGG -3'

Posted On

2022-10-06