Mutagenetix > Incidental Mutation

Incidental Mutation 'R2323:Cela2a'

266110

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

040314-MU

Accession Numbers

Essential gene?

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

Stock #

R2323 (G1)

Quality Score

165

Status

Not validated

Chromosome

Chromosomal Location

141542265-141553316 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to C at 141553390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

P05208

Predicted Effect

probably benign
Transcript: ENSMUST00000102481

SMART Domains

Protein: ENSMUSP00000099539
Gene: ENSMUSG00000058579

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155826

Predicted Effect

probably benign
Transcript: ENSMUST00000176781

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	T	2: 25,335,187 (GRCm39)	M2008I	probably benign	Het
Adgrv1	A	G	13: 81,743,298 (GRCm39)	S68P	probably damaging	Het
Albfm1	T	A	5: 90,732,711 (GRCm39)	Y507*	probably null	Het
Anks3	T	C	16: 4,768,634 (GRCm39)		probably null	Het
Asap2	T	C	12: 21,253,969 (GRCm39)	I160T	probably damaging	Het
Asb15	T	A	6: 24,556,600 (GRCm39)	F32I	probably benign	Het
Catip	A	T	1: 74,402,437 (GRCm39)	M103L	probably benign	Het
Crebrf	T	C	17: 26,982,581 (GRCm39)		probably benign	Het
Dnah10	T	C	5: 124,819,064 (GRCm39)	M450T	probably damaging	Het
Dst	T	C	1: 34,267,518 (GRCm39)	S5165P	possibly damaging	Het
Esrp2	T	A	8: 106,860,934 (GRCm39)	D196V	probably benign	Het
Hmox2	A	T	16: 4,583,720 (GRCm39)	K263*	probably null	Het
Ints10	A	G	8: 69,271,997 (GRCm39)	H566R	probably benign	Het
Ints12	G	A	3: 132,815,126 (GRCm39)	M444I	possibly damaging	Het
Liph	A	G	16: 21,802,754 (GRCm39)	V105A	probably damaging	Het
Myo1e	T	A	9: 70,286,040 (GRCm39)	Y941*	probably null	Het
Myo7b	T	C	18: 32,104,398 (GRCm39)	E1450G	probably damaging	Het
Myt1	G	T	2: 181,448,350 (GRCm39)	A594S	probably damaging	Het
Npas3	T	A	12: 54,115,129 (GRCm39)	Y666N	probably damaging	Het
Npsr1	A	G	9: 24,211,732 (GRCm39)	K240E	probably damaging	Het
Or52h7	T	C	7: 104,213,826 (GRCm39)	F133L	probably benign	Het
Rtkn2	A	G	10: 67,837,764 (GRCm39)	I102M	probably damaging	Het
Rundc1	T	C	11: 101,316,101 (GRCm39)	F58L	probably damaging	Het
Snrpc	T	G	17: 28,066,948 (GRCm39)	M91R	unknown	Het
Tgfbr2	T	C	9: 115,939,212 (GRCm39)	K205R	possibly damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tnfrsf21	C	A	17: 43,396,420 (GRCm39)	S568*	probably null	Het
Tulp1	C	T	17: 28,581,456 (GRCm39)	G239D	probably damaging	Het
Vmn1r234	T	C	17: 21,449,965 (GRCm39)	I293T	probably benign	Het
Vmn1r26	T	C	6: 57,985,842 (GRCm39)	K116E	probably damaging	Het
Vmn2r98	T	A	17: 19,286,081 (GRCm39)	I193K	probably benign	Het
Wnk4	T	A	11: 101,159,307 (GRCm39)	S575T	probably damaging	Het
Zfp558	A	T	9: 18,380,573 (GRCm39)		probably null	Het
Zscan18	T	C	7: 12,509,386 (GRCm39)		probably benign	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
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
R7946:Cela2a	UTSW	4	141,549,617 (GRCm39)	missense	possibly damaging	0.74
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

Posted On

2015-02-05