Mutagenetix > Incidental Mutation

Incidental Mutation 'RF021:Cpn2'

603903

Institutional Source

Beutler Lab

Gene Symbol

Cpn2

Ensembl Gene

ENSMUSG00000023176

Gene Name

carboxypeptidase N, polypeptide 2

Synonyms

1300018K11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

RF021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30075196-30086317 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30078156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 515 (A515V)

Ref Sequence

ENSEMBL: ENSMUSP00000069318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064856]

AlphaFold

Q9DBB9

Predicted Effect

probably benign
Transcript: ENSMUST00000064856
AA Change: A515V

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

SMART Domains

Protein: ENSMUSP00000069318
Gene: ENSMUSG00000023176
AA Change: A515V

Domain	Start	End	E-Value	Type
LRRNT	21	53	3.21e-8	SMART
LRR	96	119	1.22e2	SMART
LRR	120	143	5.11e0	SMART
LRR_TYP	144	167	2.71e-2	SMART
LRR_TYP	168	191	3.21e-4	SMART
LRR_TYP	192	215	5.9e-3	SMART
LRR_TYP	216	239	6.88e-4	SMART
LRR	240	263	6.57e-1	SMART
LRR_TYP	264	287	2.12e-4	SMART
LRR	289	311	3.07e-1	SMART
LRR_TYP	312	335	2.61e-4	SMART
LRR_TYP	336	359	5.9e-3	SMART
LRR_TYP	360	383	2.79e-4	SMART
LRRCT	395	446	7.34e-9	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

91% (50/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,891,290 (GRCm39)		probably benign	Het
AI837181	CGG	CGGTGG	19: 5,475,262 (GRCm39)		probably benign	Het
Ankrd44	T	C	1: 54,817,471 (GRCm39)	H79R	probably damaging	Het
Atg9a	T	A	1: 75,159,273 (GRCm39)	E826V	probably damaging	Het
Atrnl1	T	C	19: 57,630,905 (GRCm39)	V224A	probably benign	Het
Bltp1	TTATTATTATTAT	TTATTATTATTATTAATATTATTATTAT	3: 37,104,897 (GRCm39)		probably benign	Het
Cyp2a12	T	C	7: 26,734,785 (GRCm39)	F402S	possibly damaging	Het
Defb22	TGCGGCA	TGCGGCAGAGCTGGGCGTTGCGGCA	2: 152,327,752 (GRCm39)		probably benign	Het
Dnah10	G	T	5: 124,854,971 (GRCm39)	V2016F	probably damaging	Het
Dock10	T	C	1: 80,542,290 (GRCm39)		probably null	Het
Efhd2	GCC	GCCGCCCCC	4: 141,602,084 (GRCm39)		probably benign	Het
Fam131a	A	C	16: 20,513,690 (GRCm39)		probably benign	Het
Gm7247	AGACCAGACC	A	14: 51,601,781 (GRCm39)		probably benign	Het
Gna13	T	C	11: 109,283,218 (GRCm39)	V186A	probably benign	Het
Grk3	T	A	5: 113,089,554 (GRCm39)	I333L	probably benign	Het
Gstp1	A	T	19: 4,085,507 (GRCm39)	V200E	probably benign	Het
Gtf2h1	T	G	7: 46,453,289 (GRCm39)	V74G	possibly damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Kiz	A	G	2: 146,712,750 (GRCm39)	D138G	possibly damaging	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,285,782 (GRCm39)		probably benign	Het
Lats1	A	G	10: 7,586,372 (GRCm39)	T912A	probably damaging	Het
Lce1m	GCTGCCACC	GCTGCCACCACTTCTGCCACC	3: 92,925,576 (GRCm39)		probably benign	Het
Lce1m	TGCC	TGCCGCCGCTGCCGCC	3: 92,925,602 (GRCm39)		probably benign	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,810,744 (GRCm39)		probably null	Het
Med12l	T	C	3: 58,980,711 (GRCm39)	F359S	probably benign	Het
Mmut	A	G	17: 41,262,649 (GRCm39)	I444V	probably benign	Het
Ncoa2	CTTAAAA	C	1: 13,219,333 (GRCm39)		probably benign	Het
Ngp	A	G	9: 110,250,824 (GRCm39)	T114A	possibly damaging	Het
Nlrc5	A	T	8: 95,203,516 (GRCm39)	T539S	probably benign	Het
Nxf1	A	G	19: 8,749,673 (GRCm39)	D190G	probably damaging	Het
Or6c2b	A	T	10: 128,948,211 (GRCm39)	F28I	probably damaging	Het
Or8g2	A	T	9: 39,821,341 (GRCm39)	M81L	probably benign	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Prdm15	G	A	16: 97,609,956 (GRCm39)	H563Y	probably damaging	Het
Rbm12	CAGG	CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG	2: 155,938,026 (GRCm39)		probably benign	Het
Sema3g	C	T	14: 30,949,798 (GRCm39)	H660Y	probably damaging	Het
Slco1a8	A	T	6: 141,954,440 (GRCm39)	V31E	probably damaging	Het
Smarca2	AGCAGCAGCAGCAGCAGCAGCA	AGCAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,608,397 (GRCm39)		probably benign	Het
Stpg2	A	T	3: 138,918,011 (GRCm39)		probably null	Het
Taar7f	C	T	10: 23,926,321 (GRCm39)	T305M	possibly damaging	Het
Tbcb	C	T	7: 29,923,771 (GRCm39)	V208M	probably damaging	Het
Tenm2	T	A	11: 35,915,030 (GRCm39)	Q2169L	possibly damaging	Het
Tln1	A	G	4: 43,555,890 (GRCm39)	V108A	probably damaging	Het
Tmc8	T	C	11: 117,674,060 (GRCm39)	M42T	probably benign	Het
Trdc	T	C	14: 54,381,660 (GRCm39)	V115A		Het
Ttbk2	A	G	2: 120,579,115 (GRCm39)	V669A	probably benign	Het
Tusc1	GCC	GCCACCACC	4: 93,223,553 (GRCm39)		probably benign	Het
Utp25	A	G	1: 192,802,974 (GRCm39)	F248L	probably benign	Het
Vps16	A	G	2: 130,280,129 (GRCm39)	H118R	probably benign	Het
Wdpcp	T	A	11: 21,661,587 (GRCm39)	C286*	probably null	Het
Zbed4	C	A	15: 88,665,439 (GRCm39)	Y502*	probably null	Het
Zdbf2	T	A	1: 63,341,811 (GRCm39)	N63K	possibly damaging	Het

Other mutations in Cpn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Cpn2	APN	16	30,079,338 (GRCm39)	missense	probably benign	0.42
IGL01954:Cpn2	APN	16	30,079,138 (GRCm39)	missense	probably benign	0.01
IGL02458:Cpn2	APN	16	30,079,653 (GRCm39)	missense	probably benign	0.00
IGL03036:Cpn2	APN	16	30,079,647 (GRCm39)	missense	probably benign	0.00
BB002:Cpn2	UTSW	16	30,079,619 (GRCm39)	missense	probably damaging	1.00
BB012:Cpn2	UTSW	16	30,079,619 (GRCm39)	missense	probably damaging	1.00
R0118:Cpn2	UTSW	16	30,079,186 (GRCm39)	missense	probably benign	0.04
R0541:Cpn2	UTSW	16	30,078,169 (GRCm39)	missense	possibly damaging	0.73
R1300:Cpn2	UTSW	16	30,078,481 (GRCm39)	missense	probably benign	0.01
R1470:Cpn2	UTSW	16	30,079,003 (GRCm39)	missense	probably benign	0.00
R1470:Cpn2	UTSW	16	30,079,003 (GRCm39)	missense	probably benign	0.00
R1751:Cpn2	UTSW	16	30,078,485 (GRCm39)	nonsense	probably null
R1753:Cpn2	UTSW	16	30,078,918 (GRCm39)	missense	probably damaging	1.00
R1761:Cpn2	UTSW	16	30,079,014 (GRCm39)	missense	probably damaging	1.00
R1767:Cpn2	UTSW	16	30,078,485 (GRCm39)	nonsense	probably null
R1793:Cpn2	UTSW	16	30,078,142 (GRCm39)	missense	probably damaging	1.00
R2360:Cpn2	UTSW	16	30,078,321 (GRCm39)	missense	probably benign	0.01
R2414:Cpn2	UTSW	16	30,079,392 (GRCm39)	missense	probably benign	0.41
R3842:Cpn2	UTSW	16	30,079,336 (GRCm39)	missense	probably damaging	1.00
R4934:Cpn2	UTSW	16	30,079,344 (GRCm39)	missense	probably damaging	1.00
R4956:Cpn2	UTSW	16	30,079,233 (GRCm39)	missense	possibly damaging	0.56
R5593:Cpn2	UTSW	16	30,078,898 (GRCm39)	missense	probably benign	0.02
R5864:Cpn2	UTSW	16	30,078,501 (GRCm39)	missense	probably damaging	1.00
R6755:Cpn2	UTSW	16	30,079,149 (GRCm39)	missense	probably damaging	1.00
R7833:Cpn2	UTSW	16	30,079,163 (GRCm39)	missense	probably damaging	1.00
R7925:Cpn2	UTSW	16	30,079,619 (GRCm39)	missense	probably damaging	1.00
R8441:Cpn2	UTSW	16	30,078,849 (GRCm39)	missense	probably damaging	1.00
R8679:Cpn2	UTSW	16	30,078,085 (GRCm39)	missense	possibly damaging	0.90
R8844:Cpn2	UTSW	16	30,078,115 (GRCm39)	missense	probably damaging	1.00
R9406:Cpn2	UTSW	16	30,078,360 (GRCm39)	missense	probably benign	0.02
R9523:Cpn2	UTSW	16	30,078,759 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TGGCCATGTCCCTTATATTGG -3'
(R):5'- ACTTGAAGCAGGAGCAGCTG -3'

Sequencing Primer
(F):5'- GGCCATGTCCCTTATATTGGTTTCAG -3'
(R):5'- AGCTGATATGCCCGGTCAAC -3'

Posted On

2019-12-04