Mutagenetix > Incidental Mutation

Incidental Mutation 'R6163:Cpvl'

489962

Institutional Source

Beutler Lab

Gene Symbol

Cpvl

Ensembl Gene

ENSMUSG00000052955

Gene Name

carboxypeptidase, vitellogenic-like

Synonyms

4933436L16Rik

Accession Numbers

Essential gene?

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

Stock #

R6163 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53850264-53955656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53850503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 445 (V445F)

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: V445F

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

SMART Domains

Protein: ENSMUSP00000131462
Gene: ENSMUSG00000052955
AA Change: V445F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178568

Predicted Effect

probably damaging
Transcript: ENSMUST00000203101
AA Change: V401F

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

SMART Domains

Protein: ENSMUSP00000145288
Gene: ENSMUSG00000052955
AA Change: V401F

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: V445F

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

SMART Domains

Protein: ENSMUSP00000144942
Gene: ENSMUSG00000052955
AA Change: V445F

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 144,982,098 (GRCm39)	Q228*	probably null	Het
Asic5	A	G	3: 81,913,833 (GRCm39)	N169S	probably damaging	Het
Atad2b	T	A	12: 5,004,593 (GRCm39)	L374H	probably benign	Het
Birc2	G	A	9: 7,819,036 (GRCm39)	T544I	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,652 (GRCm39)		probably benign	Het
Cc2d2b	C	T	19: 40,744,950 (GRCm39)	T23I	probably benign	Het
Ccdc137	G	T	11: 120,350,927 (GRCm39)	R108L	possibly damaging	Het
Cenpe	T	C	3: 134,974,764 (GRCm39)	I2308T	probably damaging	Het
Clec2m	C	T	6: 129,303,710 (GRCm39)	R85H	probably benign	Het
Cpt1b	T	C	15: 89,308,620 (GRCm39)	T103A	probably benign	Het
Cttnbp2	A	G	6: 18,434,950 (GRCm39)	S303P	possibly damaging	Het
Cyp17a1	T	A	19: 46,657,761 (GRCm39)	I264F	possibly damaging	Het
Cyp51	T	A	5: 4,150,199 (GRCm39)	I175F	probably damaging	Het
Dennd4c	C	T	4: 86,723,828 (GRCm39)	P695S	possibly damaging	Het
Dlgap2	A	T	8: 14,896,641 (GRCm39)	Q1039L	probably damaging	Het
Dnah14	T	C	1: 181,493,926 (GRCm39)	L1694P	probably benign	Het
Dnah2	G	A	11: 69,411,729 (GRCm39)	Q298*	probably null	Het
Dsg2	G	T	18: 20,731,726 (GRCm39)		probably null	Het
Esr2	A	C	12: 76,168,643 (GRCm39)	V522G	probably damaging	Het
Fmo9	T	A	1: 166,494,962 (GRCm39)	H262L	probably benign	Het
Glb1l	T	A	1: 75,178,051 (GRCm39)	M373L	probably benign	Het
Gls	A	G	1: 52,254,735 (GRCm39)	S247P	probably benign	Het
Gm37240	T	A	3: 84,423,092 (GRCm39)	E213D	probably damaging	Het
Gmip	T	A	8: 70,270,022 (GRCm39)	V675E	probably benign	Het
Grb10	C	A	11: 11,893,932 (GRCm39)	E330*	probably null	Het
H2ac13	A	T	13: 21,900,859 (GRCm39)	N90Y	probably damaging	Het
Hivep2	A	G	10: 14,005,736 (GRCm39)	K778R	probably damaging	Het
Ighv1-26	T	C	12: 114,752,416 (GRCm39)	S4G	probably benign	Het
Igkv3-3	T	A	6: 70,664,257 (GRCm39)	V33E	possibly damaging	Het
Itga2	C	A	13: 115,002,726 (GRCm39)	G588V	probably damaging	Het
Itpr1	C	T	6: 108,365,245 (GRCm39)	H58Y	probably damaging	Het
Jmjd1c	T	A	10: 67,083,827 (GRCm39)	D2365E	possibly damaging	Het
Limk1	T	C	5: 134,686,809 (GRCm39)	Y518C	probably damaging	Het
Marchf6	G	C	15: 31,465,497 (GRCm39)	H802Q	probably benign	Het
Mark2	A	G	19: 7,268,126 (GRCm39)	S26P	probably benign	Het
Mdn1	T	A	4: 32,716,040 (GRCm39)	L2074Q	probably damaging	Het
Mrpl37	T	C	4: 106,921,793 (GRCm39)	E174G	possibly damaging	Het
Mtcl1	T	C	17: 66,686,326 (GRCm39)	H860R	probably benign	Het
Neurod1	A	G	2: 79,284,505 (GRCm39)	F293L	probably benign	Het
Nwd1	C	T	8: 73,388,814 (GRCm39)	R81W	probably damaging	Het
Nwd2	C	A	5: 63,963,131 (GRCm39)	A905E	probably benign	Het
Or14a260	A	T	7: 85,985,592 (GRCm39)	I4N	possibly damaging	Het
Or1x6	T	A	11: 50,939,595 (GRCm39)	Y220*	probably null	Het
Or5b12b	A	C	19: 12,861,472 (GRCm39)	T76P	probably damaging	Het
Or7e169	A	G	9: 19,757,024 (GRCm39)	I297T	probably benign	Het
Otop1	C	A	5: 38,445,234 (GRCm39)		probably null	Het
Otp	A	G	13: 95,012,288 (GRCm39)	H4R	probably damaging	Het
P4htm	A	C	9: 108,459,150 (GRCm39)	Y261D	probably damaging	Het
Pcsk5	A	T	19: 17,450,405 (GRCm39)	C1148S	probably damaging	Het
Plekhg1	A	T	10: 3,914,369 (GRCm39)	R1419W	probably damaging	Het
Pramel20	A	G	4: 143,298,605 (GRCm39)	K183E	probably damaging	Het
Prkd3	C	A	17: 79,273,784 (GRCm39)	D491Y	possibly damaging	Het
Prr11	A	C	11: 86,994,454 (GRCm39)	L64R	possibly damaging	Het
Pygo1	G	T	9: 72,851,980 (GRCm39)	A56S	probably damaging	Het
Rexo5	A	G	7: 119,404,470 (GRCm39)	T189A	probably damaging	Het
Rnf213	A	T	11: 119,349,254 (GRCm39)	H3784L	possibly damaging	Het
Rps6ka5	T	G	12: 100,562,179 (GRCm39)		probably null	Het
Slco2b1	T	A	7: 99,338,106 (GRCm39)	I93F	probably damaging	Het
Slfn8	T	C	11: 82,894,690 (GRCm39)	*408W	probably null	Het
Sptbn1	C	A	11: 30,109,443 (GRCm39)	E51*	probably null	Het
Ssc5d	T	A	7: 4,930,253 (GRCm39)	H111Q	probably damaging	Het
Sult1c2	T	C	17: 54,280,981 (GRCm39)	N41D	probably benign	Het
Taar8c	G	A	10: 23,977,116 (GRCm39)	T232I	probably benign	Het
Tdo2	T	C	3: 81,882,710 (GRCm39)	E2G	possibly damaging	Het
Tff2	T	C	17: 31,363,152 (GRCm39)	E24G	probably benign	Het
Tjp2	C	A	19: 24,103,068 (GRCm39)		probably null	Het
Tnfrsf1b	A	T	4: 144,946,477 (GRCm39)	D311E	probably benign	Het
Usp15	G	T	10: 123,004,210 (GRCm39)	N181K	probably damaging	Het
Vmn1r175	T	G	7: 23,508,591 (GRCm39)	E12A	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,773 (GRCm39)	S302P	probably damaging	Het
Vmn2r58	A	G	7: 41,486,825 (GRCm39)	M690T	probably benign	Het
Wee1	T	A	7: 109,734,858 (GRCm39)	H465Q	probably damaging	Het
Zfr	C	T	15: 12,146,331 (GRCm39)	A294V	unknown	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
R1586:Cpvl	UTSW	6	53,903,886 (GRCm39)	missense	probably damaging	1.00
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
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'- CAAAAGGTCACTTGTTTCAGGG -3'
(R):5'- GCATACGACTCCAAGGCTTC -3'

Sequencing Primer
(F):5'- GAGACTCCTGTTTCAGGA -3'
(R):5'- ACTCCAAGGCTTCGGGAAG -3'

Posted On

2017-10-10