Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01870:Cma2'

278959

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cma2

Ensembl Gene

ENSMUSG00000068289

Gene Name

chymase 2, mast cell

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL01870

Quality Score

Status

Chromosome

Chromosomal Location

56188437-56211488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 56211194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 162 (S162Y)

Ref Sequence

ENSEMBL: ENSMUSP00000154424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089555] [ENSMUST00000228263]

AlphaFold

Q91VB1

Predicted Effect

probably benign
Transcript: ENSMUST00000089555
AA Change: S218Y

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

SMART Domains

Protein: ENSMUSP00000086984
Gene: ENSMUSG00000068289
AA Change: S218Y

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Tryp_SPc	20	239	7.12e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000228263
AA Change: S162Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	G	13: 30,565,310 (GRCm39)	D125G	probably damaging	Het
Arhgap31	T	C	16: 38,438,604 (GRCm39)	K300E	probably damaging	Het
Cntn4	A	G	6: 106,466,676 (GRCm39)	T193A	possibly damaging	Het
Col22a1	T	A	15: 71,824,377 (GRCm39)	M556L	probably benign	Het
Dld	A	G	12: 31,385,466 (GRCm39)	S292P	possibly damaging	Het
Dnah6	A	T	6: 73,009,552 (GRCm39)	D3746E	probably benign	Het
Eea1	A	G	10: 95,809,848 (GRCm39)	T9A	probably damaging	Het
Eeig1	T	C	2: 32,456,294 (GRCm39)	S319P	probably benign	Het
Gbf1	A	G	19: 46,274,108 (GRCm39)	K1714R	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
H2-M1	A	T	17: 36,980,955 (GRCm39)	M327K	probably benign	Het
Ifnz	T	A	4: 88,701,548 (GRCm39)	S176T	possibly damaging	Het
Irak4	T	C	15: 94,445,751 (GRCm39)	Y10H	probably benign	Het
Irx5	T	C	8: 93,086,405 (GRCm39)	F163L	probably damaging	Het
Jak3	C	T	8: 72,133,434 (GRCm39)	P376S	probably damaging	Het
Lrrc25	T	C	8: 71,070,437 (GRCm39)	S73P	possibly damaging	Het
Macf1	C	T	4: 123,367,906 (GRCm39)	G2285D	probably damaging	Het
Muc4	A	T	16: 32,574,624 (GRCm39)	T1025S	probably benign	Het
Mylk2	A	G	2: 152,757,134 (GRCm39)	N303S	probably benign	Het
Or5v1b	G	A	17: 37,841,555 (GRCm39)	R229H	probably benign	Het
Pcnx1	T	C	12: 82,022,667 (GRCm39)	V1512A	probably benign	Het
Phlda3	A	G	1: 135,694,376 (GRCm39)	S64G	probably benign	Het
Pptc7	C	A	5: 122,451,665 (GRCm39)	S40R	probably damaging	Het
Pramel19	T	A	4: 101,797,887 (GRCm39)	L95H	probably benign	Het
Ptpn4	A	C	1: 119,603,277 (GRCm39)		probably null	Het
Slc10a1	T	C	12: 81,007,302 (GRCm39)	M160V	probably benign	Het
Stac	T	C	9: 111,401,400 (GRCm39)	I349V	probably benign	Het
Synm	A	G	7: 67,385,866 (GRCm39)	S157P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,052,915 (GRCm39)	L924P	probably damaging	Het
Tcaf2	C	T	6: 42,601,411 (GRCm39)	V883I	possibly damaging	Het
Upp1	T	C	11: 9,075,700 (GRCm39)		probably null	Het
Whamm	C	T	7: 81,245,722 (GRCm39)	T726I	probably damaging	Het

Other mutations in Cma2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03139:Cma2	APN	14	56,211,256 (GRCm39)	missense	probably damaging	1.00
R0411:Cma2	UTSW	14	56,211,135 (GRCm39)	splice site	probably benign
R0545:Cma2	UTSW	14	56,210,570 (GRCm39)	missense	probably benign	0.01
R0558:Cma2	UTSW	14	56,210,249 (GRCm39)	missense	probably damaging	1.00
R1187:Cma2	UTSW	14	56,210,280 (GRCm39)	missense	probably benign	0.07
R1292:Cma2	UTSW	14	56,211,199 (GRCm39)	missense	probably damaging	1.00
R1371:Cma2	UTSW	14	56,210,283 (GRCm39)	missense	probably damaging	1.00
R1575:Cma2	UTSW	14	56,210,272 (GRCm39)	missense	probably damaging	1.00
R1662:Cma2	UTSW	14	56,210,573 (GRCm39)	missense	probably damaging	1.00
R5198:Cma2	UTSW	14	56,209,532 (GRCm39)	missense	probably benign	0.03
R5601:Cma2	UTSW	14	56,211,246 (GRCm39)	missense	possibly damaging	0.86
R6222:Cma2	UTSW	14	56,210,649 (GRCm39)	missense	possibly damaging	0.90
R6505:Cma2	UTSW	14	56,211,236 (GRCm39)	missense	probably damaging	1.00
R7387:Cma2	UTSW	14	56,210,505 (GRCm39)	missense	probably benign	0.03
R8222:Cma2	UTSW	14	56,210,727 (GRCm39)	missense	probably benign	0.00
R8860:Cma2	UTSW	14	56,210,574 (GRCm39)	missense	probably damaging	1.00
R8997:Cma2	UTSW	14	56,210,201 (GRCm39)	missense	probably benign	0.00
R9429:Cma2	UTSW	14	56,210,276 (GRCm39)	missense	possibly damaging	0.90
R9548:Cma2	UTSW	14	56,211,256 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16