Mutagenetix > Incidental Mutation

Incidental Mutation 'R6892:Cpa4'

538100

Institutional Source

Beutler Lab

Gene Symbol

Cpa4

Ensembl Gene

ENSMUSG00000039070

Gene Name

carboxypeptidase A4

Synonyms

1110019K20Rik

MMRRC Submission

044986-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6892 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30568368-30592417 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30583628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 248 (R248L)

Ref Sequence

ENSEMBL: ENSMUSP00000048558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049251]

AlphaFold

Q6P8K8

Predicted Effect

probably benign
Transcript: ENSMUST00000049251
AA Change: R248L

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

SMART Domains

Protein: ENSMUSP00000048558
Gene: ENSMUSG00000039070
AA Change: R248L

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Propep_M14	27	101	2.5e-20	PFAM
Zn_pept	122	403	2.3e-140	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

96% (54/56)

MGI Phenotype

FUNCTION: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases that could be involved in the histone hyperacetylation pathway. The encoded preproprotein undergoes proteolytic processing that removes the N-terminal activation peptide to generate a functional enzyme. This gene is located in a cluster of carboxypeptidase genes on chromosome 6. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930442H23Rik	C	A	10: 81,018,978 (GRCm39)		probably benign	Het
4933421I07Rik	T	C	7: 42,095,831 (GRCm39)	Q139R	probably benign	Het
A930002H24Rik	C	T	17: 64,170,759 (GRCm39)	V10M	unknown	Het
Acvr2a	T	A	2: 48,787,087 (GRCm39)	L394Q	probably damaging	Het
Ano6	T	C	15: 95,865,505 (GRCm39)	Y830H	probably damaging	Het
Atp8b4	T	A	2: 126,184,922 (GRCm39)	I914F	possibly damaging	Het
Bltp3b	G	A	10: 89,640,985 (GRCm39)	V719I	probably benign	Het
Cab39	A	G	1: 85,776,098 (GRCm39)	D265G	probably damaging	Het
Capn5	A	T	7: 97,785,148 (GRCm39)	W109R	probably damaging	Het
Cdk18	G	T	1: 132,049,848 (GRCm39)	T44K	probably benign	Het
Cdt1	T	A	8: 123,296,951 (GRCm39)	N248K	probably damaging	Het
Cpt1a	G	A	19: 3,421,660 (GRCm39)	V481M	probably benign	Het
Cyp3a11	G	A	5: 145,797,258 (GRCm39)	L374F	probably damaging	Het
Dcdc2a	A	G	13: 25,240,443 (GRCm39)	N64D	probably damaging	Het
Dmxl1	G	A	18: 50,053,969 (GRCm39)	R2525Q	probably damaging	Het
Dscaml1	G	A	9: 45,595,128 (GRCm39)	V744M	probably damaging	Het
Dync1h1	G	A	12: 110,605,335 (GRCm39)	E2391K	probably benign	Het
Ezh1	A	T	11: 101,090,187 (GRCm39)	Y522*	probably null	Het
Fzd3	G	C	14: 65,447,330 (GRCm39)	A533G	possibly damaging	Het
Gm14403	T	G	2: 177,201,040 (GRCm39)	C329G	probably damaging	Het
Gm17067	A	C	7: 42,360,099 (GRCm39)		probably null	Het
Gm38119	A	G	3: 92,645,529 (GRCm39)	C22R	unknown	Het
Grep1	A	G	17: 23,931,328 (GRCm39)	L193P	probably damaging	Het
Gtf3c3	A	G	1: 54,455,100 (GRCm39)	S588P	probably benign	Het
Ift140	A	G	17: 25,239,520 (GRCm39)	E59G	possibly damaging	Het
Ints1	A	T	5: 139,753,583 (GRCm39)	M683K	probably damaging	Het
Iws1	A	G	18: 32,219,327 (GRCm39)	M470V	probably damaging	Het
Mptx1	A	G	1: 174,159,831 (GRCm39)	R46G	probably benign	Het
Nhsl1	C	T	10: 18,400,091 (GRCm39)	T439I	probably damaging	Het
Or10a49	A	G	7: 108,467,722 (GRCm39)	L213P	probably damaging	Het
Peg3	C	T	7: 6,711,898 (GRCm39)	S1108N	possibly damaging	Het
Pgm1	A	G	4: 99,786,905 (GRCm39)	E48G	probably benign	Het
Pkhd1	G	A	1: 20,593,739 (GRCm39)	T1458I	probably damaging	Het
Polr1a	A	T	6: 71,941,696 (GRCm39)	D1068V	possibly damaging	Het
Ptprq	T	C	10: 107,411,865 (GRCm39)	T1834A	probably benign	Het
Rapgef1	T	C	2: 29,589,852 (GRCm39)		probably null	Het
Rgl1	A	T	1: 152,415,691 (GRCm39)	D409E	probably benign	Het
Rgsl1	G	T	1: 153,697,245 (GRCm39)	Y558*	probably null	Het
Rock1	C	T	18: 10,122,612 (GRCm39)	R403H	probably benign	Het
Scn11a	T	A	9: 119,636,035 (GRCm39)	D304V	possibly damaging	Het
Sdk1	A	T	5: 142,032,053 (GRCm39)	I1043F	probably benign	Het
Sgms2	A	G	3: 131,135,803 (GRCm39)	Y24H	probably benign	Het
Sppl2a	A	G	2: 126,755,495 (GRCm39)	I372T	probably damaging	Het
Sptbn1	A	G	11: 30,092,187 (GRCm39)	M526T	probably benign	Het
Stxbp5l	A	T	16: 37,008,991 (GRCm39)	S683T	possibly damaging	Het
Syk	A	T	13: 52,786,934 (GRCm39)	R332S	probably benign	Het
Syne2	T	A	12: 76,009,302 (GRCm39)	V2401E	probably damaging	Het
Tarm1	T	C	7: 3,546,006 (GRCm39)	Y87C	probably damaging	Het
Tbc1d22b	A	G	17: 29,814,864 (GRCm39)	K378E	possibly damaging	Het
Tcte1	A	G	17: 45,844,083 (GRCm39)	T20A	probably benign	Het
Tor1aip2	A	T	1: 155,940,927 (GRCm39)	Y411F	possibly damaging	Het
Trim43c	T	A	9: 88,726,977 (GRCm39)	M267K	probably benign	Het
Ubr2	T	G	17: 47,245,034 (GRCm39)	Y1664S	probably damaging	Het
Vmn1r41	C	A	6: 89,724,163 (GRCm39)	Q235K	possibly damaging	Het
Wdr17	T	C	8: 55,126,631 (GRCm39)	T401A	probably damaging	Het
Zfp454	A	G	11: 50,764,025 (GRCm39)	L469P	probably damaging	Het

Other mutations in Cpa4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Cpa4	APN	6	30,581,701 (GRCm39)	missense	possibly damaging	0.94
IGL01621:Cpa4	APN	6	30,574,415 (GRCm39)	missense	probably damaging	0.97
IGL01712:Cpa4	APN	6	30,590,815 (GRCm39)	missense	possibly damaging	0.69
IGL01970:Cpa4	APN	6	30,579,645 (GRCm39)	missense	probably benign	0.01
IGL02751:Cpa4	APN	6	30,581,739 (GRCm39)	missense	probably damaging	1.00
R0029:Cpa4	UTSW	6	30,585,044 (GRCm39)	missense	probably damaging	1.00
R0029:Cpa4	UTSW	6	30,585,044 (GRCm39)	missense	probably damaging	1.00
R0116:Cpa4	UTSW	6	30,579,657 (GRCm39)	missense	probably damaging	1.00
R0546:Cpa4	UTSW	6	30,580,962 (GRCm39)	missense	probably damaging	1.00
R2211:Cpa4	UTSW	6	30,583,649 (GRCm39)	missense	possibly damaging	0.89
R3849:Cpa4	UTSW	6	30,590,872 (GRCm39)	missense	probably damaging	1.00
R4876:Cpa4	UTSW	6	30,590,814 (GRCm39)	missense	probably benign	0.01
R4920:Cpa4	UTSW	6	30,568,462 (GRCm39)	critical splice donor site	probably null
R6144:Cpa4	UTSW	6	30,585,082 (GRCm39)	missense	probably damaging	1.00
R7567:Cpa4	UTSW	6	30,573,889 (GRCm39)	missense	probably benign	0.03
R7763:Cpa4	UTSW	6	30,583,644 (GRCm39)	missense	probably damaging	1.00
R8033:Cpa4	UTSW	6	30,590,799 (GRCm39)	missense	probably benign
R8679:Cpa4	UTSW	6	30,585,158 (GRCm39)	missense	probably damaging	1.00
R9094:Cpa4	UTSW	6	30,574,393 (GRCm39)	missense	possibly damaging	0.94
R9566:Cpa4	UTSW	6	30,579,608 (GRCm39)	missense	probably benign
X0061:Cpa4	UTSW	6	30,590,962 (GRCm39)	missense	probably damaging	1.00
Z1177:Cpa4	UTSW	6	30,574,402 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CTCTCCTATGAGGGGTAAAAGCAG -3'
(R):5'- CTCGAGTCTTCCAGCGAATG -3'

Sequencing Primer
(F):5'- ACTGGAGTCTAGATGTACTGTTCCC -3'
(R):5'- TGGAAAAACAAAACCAGTGTGGAACC -3'

Posted On

2018-11-06