Mutagenetix > Incidental Mutation

Incidental Mutation 'R6734:Dcpp2'

528365

Institutional Source

Beutler Lab

Gene Symbol

Dcpp2

Ensembl Gene

ENSMUSG00000096278

Gene Name

demilune cell and parotid protein 2

Synonyms

EG630537

MMRRC Submission

044852-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6734 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24117696-24119762 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24119545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 120 (Y120H)

Ref Sequence

ENSEMBL: ENSMUSP00000126379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088598] [ENSMUST00000168272]

AlphaFold

E9PYC2

Predicted Effect

probably damaging
Transcript: ENSMUST00000088598
AA Change: Y120H

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085966
Gene: ENSMUSG00000096278
AA Change: Y120H

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Jacalin	32	159	2.91e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168272
AA Change: Y120H

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126379
Gene: ENSMUSG00000096278
AA Change: Y120H

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Jacalin	32	159	2.91e-1	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Ano6	A	G	15: 95,847,417 (GRCm39)	K554R	probably damaging	Het
Arhgef10	A	T	8: 15,025,053 (GRCm39)	I703F	probably damaging	Het
Bbs1	T	C	19: 4,953,924 (GRCm39)	S80G	probably benign	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Camk1	C	A	6: 113,311,345 (GRCm39)	R352L	probably benign	Het
Cand1	G	A	10: 119,047,897 (GRCm39)	P531L	possibly damaging	Het
Cnot2	G	A	10: 116,334,058 (GRCm39)	P371S	possibly damaging	Het
Col24a1	C	A	3: 145,214,429 (GRCm39)	P1384Q	probably benign	Het
Csmd2	C	A	4: 128,357,606 (GRCm39)	T1689K	probably benign	Het
Cyp26a1	T	A	19: 37,689,660 (GRCm39)	L452H	probably damaging	Het
Dennd6a	G	T	14: 26,329,774 (GRCm39)	R115L	possibly damaging	Het
Eml2	T	A	7: 18,934,432 (GRCm39)	V377E	probably benign	Het
Fam135b	T	C	15: 71,334,629 (GRCm39)	E855G	probably benign	Het
Fam149a	A	T	8: 45,834,478 (GRCm39)	I107K	probably benign	Het
Fam227b	A	T	2: 125,968,896 (GRCm39)	Y59*	probably null	Het
Fbn2	T	C	18: 58,169,032 (GRCm39)	E2249G	probably damaging	Het
Flrt1	T	C	19: 7,073,524 (GRCm39)	D341G	possibly damaging	Het
Galnt9	G	A	5: 110,768,465 (GRCm39)	R587H	probably damaging	Het
Gsdma2	A	G	11: 98,540,416 (GRCm39)	T112A	possibly damaging	Het
Klhl24	T	C	16: 19,926,279 (GRCm39)	V269A	probably damaging	Het
Lcorl	A	G	5: 45,890,839 (GRCm39)	S505P	probably damaging	Het
Liph	A	G	16: 21,802,707 (GRCm39)	S121P	probably damaging	Het
Lrp4	G	A	2: 91,316,242 (GRCm39)	V787M	possibly damaging	Het
Lrrd1	A	C	5: 3,900,226 (GRCm39)	D177A	possibly damaging	Het
Mbd1	G	A	18: 74,409,114 (GRCm39)	R399H	probably damaging	Het
Naa25	C	T	5: 121,576,888 (GRCm39)	T879M	possibly damaging	Het
Naa35	T	G	13: 59,756,005 (GRCm39)	L147R	possibly damaging	Het
Ninl	C	A	2: 150,787,003 (GRCm39)		probably null	Het
Nrap	T	C	19: 56,333,941 (GRCm39)	D972G	probably damaging	Het
Or9k7	A	G	10: 130,046,126 (GRCm39)	F291S	probably benign	Het
Pdzd2	T	C	15: 12,592,551 (GRCm39)	E31G	probably damaging	Het
Plec	C	T	15: 76,078,603 (GRCm39)	E41K	probably damaging	Het
Plxnb1	A	T	9: 108,937,988 (GRCm39)	K1245*	probably null	Het
Ppfia1	T	C	7: 144,032,790 (GRCm39)	T1263A	probably damaging	Het
Prex2	G	A	1: 11,150,283 (GRCm39)	V152I	probably damaging	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Prss3l	T	C	6: 41,422,321 (GRCm39)	Y28C	probably damaging	Het
Prune2	T	G	19: 16,981,097 (GRCm39)	F85V	probably damaging	Het
Rrp1b	T	G	17: 32,274,278 (GRCm39)		probably benign	Het
Sec62	A	G	3: 30,864,609 (GRCm39)	T158A	probably benign	Het
Sema6a	G	A	18: 47,412,236 (GRCm39)	T526I	probably benign	Het
Shank1	G	T	7: 44,003,110 (GRCm39)	A1610S	probably benign	Het
Slc24a4	T	C	12: 102,185,259 (GRCm39)	V123A	probably damaging	Het
Stk11ip	T	C	1: 75,509,013 (GRCm39)	V714A	probably benign	Het
Tas1r3	T	C	4: 155,945,257 (GRCm39)	T655A	probably damaging	Het
Tns2	G	T	15: 102,011,551 (GRCm39)	L10F	probably damaging	Het
Trmt10c	A	G	16: 55,854,489 (GRCm39)	V382A	probably benign	Het
Unc45a	G	C	7: 79,986,746 (GRCm39)	T149R	probably damaging	Het
Zhx3	T	G	2: 160,623,640 (GRCm39)	I176L	probably damaging	Het
Zscan12	T	A	13: 21,552,966 (GRCm39)	C263*	probably null	Het

Other mutations in Dcpp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02114:Dcpp2	APN	17	24,119,609 (GRCm39)	missense	possibly damaging	0.82
R1183:Dcpp2	UTSW	17	24,119,468 (GRCm39)	missense	probably benign	0.06
R1482:Dcpp2	UTSW	17	24,119,516 (GRCm39)	missense	probably damaging	1.00
R2193:Dcpp2	UTSW	17	24,119,393 (GRCm39)	missense	probably damaging	0.98
R3983:Dcpp2	UTSW	17	24,119,547 (GRCm39)	nonsense	probably null
R5426:Dcpp2	UTSW	17	24,118,287 (GRCm39)	missense	possibly damaging	0.92
R5554:Dcpp2	UTSW	17	24,119,545 (GRCm39)	missense	probably damaging	0.99
R6042:Dcpp2	UTSW	17	24,117,886 (GRCm39)	missense	probably damaging	0.99
R7827:Dcpp2	UTSW	17	24,119,566 (GRCm39)	missense	probably damaging	1.00
R8220:Dcpp2	UTSW	17	24,119,666 (GRCm39)	missense	possibly damaging	0.89
R8283:Dcpp2	UTSW	17	24,118,384 (GRCm39)	critical splice donor site	probably null
R9562:Dcpp2	UTSW	17	24,119,453 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCAGGTCATGCACTGTCG -3'
(R):5'- ACAGACCACTTCAGCCTGAG -3'

Sequencing Primer
(F):5'- CGGGATGAGTATTCAAGACTTTTCC -3'
(R):5'- CTGAGTGGCCATATTTCACACATG -3'

Posted On

2018-07-24