Mutagenetix > Incidental Mutation

Incidental Mutation 'R8844:Cpn2'

674622

Institutional Source

Beutler Lab

Gene Symbol

Cpn2

Ensembl Gene

ENSMUSG00000023176

Gene Name

carboxypeptidase N, polypeptide 2

Synonyms

1300018K11Rik

MMRRC Submission

068733-MU

Accession Numbers

Essential gene?

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

Stock #

R8844 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30075196-30086317 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30078115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 529 (S529P)

Ref Sequence

ENSEMBL: ENSMUSP00000069318 (fasta)

Gene Model

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

AlphaFold

Q9DBB9

Predicted Effect

probably damaging
Transcript: ENSMUST00000064856
AA Change: S529P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069318
Gene: ENSMUSG00000023176
AA Change: S529P

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,595,011 (GRCm39)	H89L	possibly damaging	Het
Ahnak	T	C	19: 8,984,254 (GRCm39)	V1846A	probably damaging	Het
Arhgap9	A	T	10: 127,161,015 (GRCm39)	T181S	probably benign	Het
Bmp10	A	G	6: 87,410,681 (GRCm39)	Y158C	probably damaging	Het
Clec14a	A	G	12: 58,315,599 (GRCm39)	C8R	possibly damaging	Het
Cntln	A	G	4: 84,892,234 (GRCm39)	H373R	probably damaging	Het
Csmd3	T	C	15: 47,604,590 (GRCm39)	N1051S	probably damaging	Het
Csmd3	G	A	15: 48,536,815 (GRCm39)	T129M	probably damaging	Het
F12	T	C	13: 55,568,198 (GRCm39)	H432R	probably damaging	Het
Foxm1	T	C	6: 128,350,439 (GRCm39)	F595S	probably damaging	Het
Foxred2	A	T	15: 77,832,677 (GRCm39)	I410N	probably benign	Het
Fstl5	T	A	3: 76,337,154 (GRCm39)	F238I	possibly damaging	Het
Galnt3	A	G	2: 65,915,636 (GRCm39)	V575A	probably benign	Het
Gpr149	T	A	3: 62,502,572 (GRCm39)	Y428F	probably benign	Het
Gtf2ird1	A	T	5: 134,389,879 (GRCm39)	Y970*	probably null	Het
Hint2	G	C	4: 43,654,343 (GRCm39)	Q157E	probably damaging	Het
Ighe	T	C	12: 113,235,006 (GRCm39)	T385A		Het
Kcnc4	G	A	3: 107,355,396 (GRCm39)	R351C	probably damaging	Het
Kif7	A	G	7: 79,357,280 (GRCm39)	L642S	possibly damaging	Het
Lilra5	T	A	7: 4,241,663 (GRCm39)	V154D	probably damaging	Het
Morc2b	A	G	17: 33,354,742 (GRCm39)	L1010P	probably damaging	Het
Mphosph10	C	A	7: 64,027,087 (GRCm39)	K575N	probably damaging	Het
Mup7	C	A	4: 60,067,537 (GRCm39)	E193*	probably null	Het
Nbea	T	C	3: 55,998,415 (GRCm39)	T131A	probably damaging	Het
Nostrin	T	C	2: 69,006,060 (GRCm39)	I248T	probably damaging	Het
Nrxn3	A	T	12: 89,153,920 (GRCm39)	I296F	possibly damaging	Het
Odam	A	G	5: 88,037,322 (GRCm39)	E172G	probably damaging	Het
Optn	A	G	2: 5,031,923 (GRCm39)		probably null	Het
Or5ac16	G	C	16: 59,021,929 (GRCm39)	P287A	probably damaging	Het
Osbpl8	T	A	10: 111,112,336 (GRCm39)	Y484N	probably damaging	Het
Patj	A	G	4: 98,480,206 (GRCm39)	N1308D	probably damaging	Het
Pcdhb17	A	T	18: 37,618,801 (GRCm39)	E197V	probably benign	Het
Pcolce2	G	A	9: 95,563,625 (GRCm39)	D204N	possibly damaging	Het
Plxna4	T	G	6: 32,174,026 (GRCm39)	T1190P	probably benign	Het
Pramel22	A	T	4: 143,380,976 (GRCm39)	F349Y	probably damaging	Het
Pzp	T	C	6: 128,500,950 (GRCm39)	Y136C	probably damaging	Het
Scn10a	A	T	9: 119,446,791 (GRCm39)	N1411K	probably damaging	Het
Scube1	A	G	15: 83,561,164 (GRCm39)	C143R	probably damaging	Het
Stau1	T	C	2: 166,793,266 (GRCm39)	T290A	probably benign	Het
Sycp1	T	A	3: 102,772,421 (GRCm39)	K629I	probably damaging	Het
Taf1d	A	G	9: 15,221,324 (GRCm39)	E210G	probably damaging	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tmem229a	T	C	6: 24,955,187 (GRCm39)	D189G	probably benign	Het
Tmem269	G	A	4: 119,062,876 (GRCm39)	P254S	probably damaging	Het
Top1	T	A	2: 160,563,469 (GRCm39)	F767I	probably damaging	Het
Ube2q2	C	A	9: 55,102,757 (GRCm39)	A331D		Het
Usp1	A	G	4: 98,823,017 (GRCm39)	Y777C	probably damaging	Het
Usp29	A	G	7: 6,964,891 (GRCm39)	N245D	probably benign	Het
Vmn1r212	T	A	13: 23,067,526 (GRCm39)	Q269L	probably benign	Het
Wfdc11	T	A	2: 164,507,373 (GRCm39)	Y28F	probably benign	Het
Wwp2	A	T	8: 108,210,048 (GRCm39)	D142V	probably 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
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
RF021:Cpn2	UTSW	16	30,078,156 (GRCm39)	missense	probably benign

Predicted Primers

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

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

Posted On

2021-07-15