Mutagenetix > Incidental Mutation

Incidental Mutation 'R1586:Cpvl'

177504

Institutional Source

Beutler Lab

Gene Symbol

Cpvl

Ensembl Gene

ENSMUSG00000052955

Gene Name

carboxypeptidase, vitellogenic-like

Synonyms

4933436L16Rik

MMRRC Submission

039623-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R1586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53850264-53955656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53903886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 293 (D293V)

Ref Sequence

ENSEMBL: ENSMUSP00000144942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166545] [ENSMUST00000203101] [ENSMUST00000204674]

AlphaFold

Q9D3S9

Predicted Effect

probably damaging
Transcript: ENSMUST00000166545
AA Change: D293V

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

SMART Domains

Protein: ENSMUSP00000131462
Gene: ENSMUSG00000052955
AA Change: D293V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Peptidase_S10	66	470	3.5e-106	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203101
AA Change: D249V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145288
Gene: ENSMUSG00000052955
AA Change: D249V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Peptidase_S10	66	266	3.8e-68	PFAM
Pfam:Peptidase_S10	262	426	5.2e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204674
AA Change: D293V

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

SMART Domains

Protein: ENSMUSP00000144942
Gene: ENSMUSG00000052955
AA Change: D293V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Peptidase_S10	66	470	3.5e-106	PFAM

Meta Mutation Damage Score

0.8710

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

93% (65/70)

MGI Phenotype

FUNCTION: This gene encodes a member of the serine carboxypeptidase family of proteases that cleave amino acids from the C-terminus of a protein substrate. The human ortholog of this gene, where it was first characterized, was found to be upregulated during the maturation of monocytes to macrophages. The encoded protein may be involved in antigen processing, digestion of phagocytosed proteins in the lysosome and lamellipodium formation. Disruption of this gene in mice was found to cause embryonic lethality. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a transposon insertion allele die prior to birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,337,228 (GRCm39)	A2361V	probably damaging	Het
Alpi	A	G	1: 87,027,923 (GRCm39)	I219T	probably damaging	Het
Anapc10	T	A	8: 80,501,772 (GRCm39)	M180K	probably benign	Het
Ank3	A	G	10: 69,713,708 (GRCm39)	I431V	probably damaging	Het
Anxa8	T	A	14: 33,815,894 (GRCm39)	D182E	probably damaging	Het
Atp1a3	T	A	7: 24,678,808 (GRCm39)	I945F	probably damaging	Het
Atp2a3	T	C	11: 72,882,570 (GRCm39)	S1019P	probably damaging	Het
Cbs	T	A	17: 31,841,448 (GRCm39)	I258F	probably damaging	Het
Cic	T	C	7: 24,985,386 (GRCm39)	S277P	probably damaging	Het
Cidea	T	A	18: 67,493,230 (GRCm39)	V83E	probably damaging	Het
Cilp	G	A	9: 65,186,997 (GRCm39)	G1031S	probably damaging	Het
Clca3a2	A	G	3: 144,516,477 (GRCm39)	I373T	possibly damaging	Het
Cryz	A	G	3: 154,317,147 (GRCm39)	N122S	probably benign	Het
Dmap1	T	C	4: 117,533,319 (GRCm39)	E245G	probably damaging	Het
Epha2	C	T	4: 141,045,916 (GRCm39)		probably benign	Het
Fam222b	C	T	11: 78,045,347 (GRCm39)	L303F	probably damaging	Het
Fastkd1	T	C	2: 69,542,492 (GRCm39)	D105G	probably benign	Het
Fat4	T	A	3: 38,943,009 (GRCm39)	L634Q	probably damaging	Het
Fbxo10	A	T	4: 45,042,036 (GRCm39)	I731N	possibly damaging	Het
Fig4	A	G	10: 41,141,423 (GRCm39)	F279L	probably damaging	Het
Guk1	A	G	11: 59,077,675 (GRCm39)	S22P	probably damaging	Het
Kmt2d	A	G	15: 98,762,934 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,403,639 (GRCm39)	S727T	probably benign	Het
Mki67	T	A	7: 135,315,701 (GRCm39)	K54*	probably null	Het
Ms4a8a	T	C	19: 11,053,696 (GRCm39)	T137A	possibly damaging	Het
Myo5c	T	C	9: 75,174,313 (GRCm39)	Y557H	probably damaging	Het
Nav3	T	A	10: 109,689,115 (GRCm39)	K387N	probably damaging	Het
Oga	T	G	19: 45,765,349 (GRCm39)	T153P	possibly damaging	Het
Or5bb10	G	T	19: 12,206,241 (GRCm39)	A223E	probably damaging	Het
Pde4c	T	A	8: 71,199,508 (GRCm39)	Y223N	probably damaging	Het
Psd	T	G	19: 46,303,237 (GRCm39)	E715A	probably damaging	Het
Rpl7	A	T	1: 16,172,807 (GRCm39)	S171T	probably benign	Het
Rrm1	A	G	7: 102,116,112 (GRCm39)	*66W	probably null	Het
Scgb1b3	T	A	7: 31,075,388 (GRCm39)	H79Q	probably damaging	Het
Serpinb9	A	T	13: 33,199,469 (GRCm39)	M255L	probably benign	Het
Slc35a4	T	C	18: 36,816,058 (GRCm39)	V296A	probably benign	Het
Smgc	G	A	15: 91,722,596 (GRCm39)	A9T	possibly damaging	Het
Snx11	C	A	11: 96,661,522 (GRCm39)	W161L	probably benign	Het
Spag17	A	G	3: 99,929,068 (GRCm39)	K533E	possibly damaging	Het
Spata31g1	A	G	4: 42,971,512 (GRCm39)	I282V	probably benign	Het
Speer4b	A	G	5: 27,702,011 (GRCm39)	S250P	probably damaging	Het
Spta1	A	T	1: 174,041,061 (GRCm39)	H1287L	probably benign	Het
Surf2	T	C	2: 26,809,767 (GRCm39)	F239S	probably damaging	Het
Tada1	G	A	1: 166,214,319 (GRCm39)	R106H	possibly damaging	Het
Tbc1d22a	C	A	15: 86,235,852 (GRCm39)		probably null	Het
Tbcd	A	G	11: 121,387,886 (GRCm39)	Q339R	probably benign	Het
Tdrd7	A	G	4: 45,994,445 (GRCm39)	H281R	probably benign	Het
Tomm5	A	G	4: 45,107,915 (GRCm39)		probably null	Het
Ttc7	T	C	17: 87,669,373 (GRCm39)		probably null	Het
Ulk1	A	T	5: 110,937,382 (GRCm39)	F638Y	probably damaging	Het
Vps35l	T	A	7: 118,409,195 (GRCm39)	I612N	probably damaging	Het
Wdr93	C	A	7: 79,418,109 (GRCm39)	D277E	probably damaging	Het
Znrf3	T	C	11: 5,231,477 (GRCm39)	R583G	probably damaging	Het
Zscan29	T	A	2: 120,991,641 (GRCm39)	I716F	probably damaging	Het

Other mutations in Cpvl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Cpvl	APN	6	53,951,640 (GRCm39)	missense	possibly damaging	0.92
IGL01340:Cpvl	APN	6	53,873,436 (GRCm39)	nonsense	probably null
IGL02596:Cpvl	APN	6	53,908,995 (GRCm39)	missense	probably damaging	1.00
PIT4472001:Cpvl	UTSW	6	53,873,464 (GRCm39)	missense	possibly damaging	0.69
R0242:Cpvl	UTSW	6	53,909,485 (GRCm39)	missense	possibly damaging	0.95
R0242:Cpvl	UTSW	6	53,909,485 (GRCm39)	missense	possibly damaging	0.95
R1987:Cpvl	UTSW	6	53,931,596 (GRCm39)	missense	probably benign	0.01
R4609:Cpvl	UTSW	6	53,951,605 (GRCm39)	critical splice donor site	probably null
R4664:Cpvl	UTSW	6	53,908,918 (GRCm39)	missense	probably benign	0.00
R4665:Cpvl	UTSW	6	53,908,918 (GRCm39)	missense	probably benign	0.00
R4666:Cpvl	UTSW	6	53,908,918 (GRCm39)	missense	probably benign	0.00
R5863:Cpvl	UTSW	6	53,850,413 (GRCm39)	missense	probably damaging	0.99
R5909:Cpvl	UTSW	6	53,909,413 (GRCm39)	missense	probably damaging	0.98
R6163:Cpvl	UTSW	6	53,850,503 (GRCm39)	missense	probably damaging	1.00
R6948:Cpvl	UTSW	6	53,873,468 (GRCm39)	missense	possibly damaging	0.94
R7023:Cpvl	UTSW	6	53,944,797 (GRCm39)	missense	probably benign	0.00
R7262:Cpvl	UTSW	6	53,909,500 (GRCm39)	missense	probably damaging	1.00
R7330:Cpvl	UTSW	6	53,951,744 (GRCm39)	missense	probably benign	0.43
R7488:Cpvl	UTSW	6	53,924,727 (GRCm39)	missense	probably damaging	1.00
R7694:Cpvl	UTSW	6	53,909,502 (GRCm39)	nonsense	probably null
R7728:Cpvl	UTSW	6	53,902,275 (GRCm39)	missense	probably benign	0.00
R7750:Cpvl	UTSW	6	53,903,886 (GRCm39)	missense	probably damaging	1.00
R7768:Cpvl	UTSW	6	53,873,476 (GRCm39)	missense	possibly damaging	0.91
R7773:Cpvl	UTSW	6	53,908,890 (GRCm39)	critical splice donor site	probably null
R7868:Cpvl	UTSW	6	53,951,745 (GRCm39)	missense	possibly damaging	0.64
R8670:Cpvl	UTSW	6	53,951,780 (GRCm39)	start codon destroyed	probably null	0.69
R9228:Cpvl	UTSW	6	53,951,779 (GRCm39)	start codon destroyed	probably null	0.00
R9337:Cpvl	UTSW	6	53,909,479 (GRCm39)	missense	probably damaging	1.00
X0062:Cpvl	UTSW	6	53,903,837 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GTAGGAAACAACTCCCACAGGTCAG -3'
(R):5'- GGGCACATGCACCTATATGCACAC -3'

Sequencing Primer
(F):5'- ACTCCCACAGGTCAGGAGATG -3'
(R):5'- atgcacCTATATGCACACAATGC -3'

Posted On

2014-04-24