Mutagenetix > Incidental Mutation

Incidental Mutation 'R7946:Cela2a'

649346

Institutional Source

Beutler Lab

Gene Symbol

Cela2a

Ensembl Gene

ENSMUSG00000058579

Gene Name

chymotrypsin-like elastase family, member 2A

Synonyms

Ela2, Ela-2, Ela2a

MMRRC Submission

045991-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R7946 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141542265-141553316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141549617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 53 (S53P)

Ref Sequence

ENSEMBL: ENSMUSP00000099539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102481]

AlphaFold

P05208

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102481
AA Change: S53P

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099539
Gene: ENSMUSG00000058579
AA Change: S53P

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Tryp_SPc	30	264	2.75e-95	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176781

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: This gene encodes a serine protease enzyme that hydrolyzes elastin. This gene is highly expressed in the pancreatic acinar cells where the encoded preproprotein undergoes processing including signal peptide cleavage to generate an inactive zymogen. The removal of N-terminal activation peptide from the zymogen by trypsin generates active elastase enzyme. This gene is also expressed in the mouse epidermis where it participates in pro-filaggrin processing. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,398 (GRCm39)	T1186A	probably benign	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Afap1	A	G	5: 36,092,995 (GRCm39)	N33S	probably benign	Het
Afap1	G	A	5: 36,141,396 (GRCm39)		probably null	Het
Ampd3	A	G	7: 110,377,147 (GRCm39)	D46G	probably damaging	Het
Anks4b	A	G	7: 119,781,707 (GRCm39)	K246R	probably benign	Het
Aqp9	C	T	9: 71,030,290 (GRCm39)	V192M	probably damaging	Het
Aspscr1	T	G	11: 120,599,443 (GRCm39)	S132A		Het
Atp2b4	C	A	1: 133,658,320 (GRCm39)	R530L	probably damaging	Het
Bahcc1	T	C	11: 120,163,325 (GRCm39)	V541A	probably benign	Het
Caprin1	A	T	2: 103,603,093 (GRCm39)	V490E	probably damaging	Het
Ccdc7a	T	A	8: 129,643,627 (GRCm39)	K734M	probably damaging	Het
Ccdc9b	G	T	2: 118,590,146 (GRCm39)	P233T	probably benign	Het
Cdc16	A	G	8: 13,812,882 (GRCm39)	K138R	probably benign	Het
Clca3a2	A	G	3: 144,513,075 (GRCm39)		probably null	Het
Cntrob	T	C	11: 69,206,047 (GRCm39)	E373G	possibly damaging	Het
Csmd2	T	C	4: 128,414,058 (GRCm39)	Y2633H		Het
Ctbp1	A	T	5: 33,407,688 (GRCm39)	M296K	probably benign	Het
Dido1	G	T	2: 180,303,501 (GRCm39)	Q1468K	possibly damaging	Het
Dnah7b	T	C	1: 46,272,739 (GRCm39)	F2289S	probably damaging	Het
Fndc7	T	A	3: 108,779,452 (GRCm39)	D364V	possibly damaging	Het
Ggt7	G	T	2: 155,347,892 (GRCm39)	H180Q	probably damaging	Het
Gm14399	A	T	2: 174,973,273 (GRCm39)	C161S	probably damaging	Het
Gm17324	T	C	9: 78,355,794 (GRCm39)	T62A	unknown	Het
Gpr107	A	G	2: 31,078,716 (GRCm39)	I384V	probably damaging	Het
Igsf10	C	A	3: 59,227,125 (GRCm39)	V2183L	possibly damaging	Het
Il23r	T	A	6: 67,411,648 (GRCm39)	H363L	possibly damaging	Het
Inka2	T	A	3: 105,623,761 (GRCm39)	L45H	probably damaging	Het
Iqsec1	A	T	6: 90,667,252 (GRCm39)	I291N	probably damaging	Het
Kcnc3	A	T	7: 44,245,569 (GRCm39)	T620S	probably benign	Het
Kif2b	T	C	11: 91,466,571 (GRCm39)	N571D	probably benign	Het
Klrb1c	T	A	6: 128,766,072 (GRCm39)		probably benign	Het
Mgst2	A	G	3: 51,584,991 (GRCm39)	N55S	probably damaging	Het
Neb	T	C	2: 52,102,746 (GRCm39)	D4509G	probably damaging	Het
Obox1	G	T	7: 15,289,456 (GRCm39)	V82F	probably benign	Het
Or4k51	A	T	2: 111,585,163 (GRCm39)	M190L	probably benign	Het
Or5p59	A	G	7: 107,703,053 (GRCm39)	D179G	probably benign	Het
Or7e174	T	C	9: 20,012,780 (GRCm39)	S242P	probably damaging	Het
Pakap	A	T	4: 57,710,045 (GRCm39)	N330I	probably damaging	Het
Phf21a	A	T	2: 92,189,512 (GRCm39)	E590D	probably damaging	Het
Rai14	T	C	15: 10,574,287 (GRCm39)		probably null	Het
Rfx7	T	C	9: 72,524,096 (GRCm39)	Y429H	probably damaging	Het
Spata31d1d	G	T	13: 59,878,606 (GRCm39)	A77E	probably benign	Het
Stra8	A	G	6: 34,907,816 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,200,919 (GRCm39)	S3550P	possibly damaging	Het
Tars2	A	T	3: 95,657,693 (GRCm39)	H249Q	probably damaging	Het
Tomm5	T	C	4: 45,107,969 (GRCm39)	E22G	probably benign	Het
Tor1a	A	G	2: 30,853,704 (GRCm39)		probably null	Het
Trim43b	A	G	9: 88,973,538 (GRCm39)	I65T	probably damaging	Het
Ubr3	T	C	2: 69,781,739 (GRCm39)	M640T	possibly damaging	Het
Vegfa	A	T	17: 46,336,377 (GRCm39)	Y248N	probably damaging	Het
Vmn1r172	T	G	7: 23,358,857 (GRCm39)		probably null	Het
Vmn1r29	G	T	6: 58,284,834 (GRCm39)	V185F	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wdfy4	T	C	14: 32,792,705 (GRCm39)	K2114E		Het

Other mutations in Cela2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03066:Cela2a	APN	4	141,548,765 (GRCm39)	missense	probably damaging	1.00
R0317:Cela2a	UTSW	4	141,549,011 (GRCm39)	critical splice donor site	probably null
R1372:Cela2a	UTSW	4	141,546,405 (GRCm39)	missense	probably damaging	1.00
R1619:Cela2a	UTSW	4	141,553,252 (GRCm39)	critical splice donor site	probably null
R1719:Cela2a	UTSW	4	141,545,257 (GRCm39)	missense	probably damaging	0.98
R2155:Cela2a	UTSW	4	141,545,350 (GRCm39)	splice site	probably null
R2323:Cela2a	UTSW	4	141,553,390 (GRCm39)	intron	probably benign
R4705:Cela2a	UTSW	4	141,548,722 (GRCm39)	missense	probably benign	0.00
R4851:Cela2a	UTSW	4	141,552,902 (GRCm39)	missense	probably benign	0.03
R4880:Cela2a	UTSW	4	141,549,598 (GRCm39)	missense	probably benign	0.01
R5704:Cela2a	UTSW	4	141,553,299 (GRCm39)	intron	probably benign
R5809:Cela2a	UTSW	4	141,552,864 (GRCm39)	missense	probably benign	0.00
R6710:Cela2a	UTSW	4	141,549,554 (GRCm39)	missense	probably damaging	1.00
RF011:Cela2a	UTSW	4	141,549,026 (GRCm39)	missense	probably benign
Z1176:Cela2a	UTSW	4	141,548,702 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATTTACAGCCCATGGATCGG -3'
(R):5'- ATGAGGGTTGAGCTAAGTGC -3'

Sequencing Primer
(F):5'- ATCGGTCCAGTTGGGGATC -3'
(R):5'- GTGCTACAATGCAGGCTCACTAG -3'

Posted On

2020-09-15