Mutagenetix > Incidental Mutation

Incidental Mutation 'R5198:Cma2'

400511

Institutional Source

Beutler Lab

Gene Symbol

Cma2

Ensembl Gene

ENSMUSG00000068289

Gene Name

chymase 2, mast cell

Synonyms

MMRRC Submission

042774-MU

Accession Numbers

Essential gene?

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

Stock #

R5198 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56188437-56211488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56209532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 38 (V38A)

Ref Sequence

ENSEMBL: ENSMUSP00000086984 (fasta)

Gene Model

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

AlphaFold

Q91VB1

Predicted Effect

probably benign
Transcript: ENSMUST00000089555
AA Change: V38A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000086984
Gene: ENSMUSG00000068289
AA Change: V38A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,571,726 (GRCm39)	V1121A	probably benign	Het
Adamtsl3	A	C	7: 82,261,006 (GRCm39)	K1647Q	possibly damaging	Het
Adgrb1	A	T	15: 74,415,550 (GRCm39)	Q710L	probably null	Het
Alox12	T	C	11: 70,145,243 (GRCm39)	E110G	probably damaging	Het
Cep152	T	A	2: 125,429,544 (GRCm39)	M738L	probably benign	Het
Dlc1	C	T	8: 37,405,552 (GRCm39)	G79D	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dus3l	A	G	17: 57,076,574 (GRCm39)	I585V	probably benign	Het
Etl4	A	G	2: 20,718,198 (GRCm39)	Y313C	probably damaging	Het
Fbxw15	C	A	9: 109,387,242 (GRCm39)	S251I	probably benign	Het
Gata4	G	A	14: 63,437,900 (GRCm39)	S417L	probably benign	Het
Gdpd5	T	A	7: 99,087,515 (GRCm39)	Y60N	probably damaging	Het
Gm17669	T	C	18: 67,695,626 (GRCm39)	M57T	probably benign	Het
Gpr39	A	T	1: 125,605,173 (GRCm39)	I34F	probably benign	Het
Iffo2	T	A	4: 139,302,528 (GRCm39)	D90E	probably benign	Het
Il17c	A	G	8: 123,149,108 (GRCm39)	D84G	possibly damaging	Het
Itih3	T	C	14: 30,634,606 (GRCm39)	T134A	probably benign	Het
Lama2	G	A	10: 27,222,999 (GRCm39)	A429V	probably damaging	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mug1	G	A	6: 121,851,521 (GRCm39)	R806H	probably damaging	Het
Naaa	G	A	5: 92,415,904 (GRCm39)	R65*	probably null	Het
Nacc2	C	T	2: 25,950,346 (GRCm39)	M463I	probably benign	Het
Nemf	A	G	12: 69,402,821 (GRCm39)	S72P	probably damaging	Het
Nudt7	G	A	8: 114,862,185 (GRCm39)		probably null	Het
Or4b1b	T	C	2: 90,126,737 (GRCm39)	Q156R	probably damaging	Het
Or52z15	T	C	7: 103,331,936 (GRCm39)	S4P	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pacs1	T	C	19: 5,189,325 (GRCm39)	D757G	probably benign	Het
Pkd2	A	C	5: 104,630,958 (GRCm39)	I461L	probably benign	Het
Potegl	G	A	2: 23,102,473 (GRCm39)	C121Y	probably damaging	Het
Pramel5	T	G	4: 144,000,064 (GRCm39)		probably benign	Het
Ptgdr	G	C	14: 45,096,300 (GRCm39)	F137L	probably damaging	Het
Pum1	T	A	4: 130,507,190 (GRCm39)	C1085*	probably null	Het
Rfx3	T	C	19: 27,808,176 (GRCm39)	D189G	probably damaging	Het
Rlf	T	A	4: 121,005,750 (GRCm39)	K1077*	probably null	Het
Slc25a30	C	A	14: 76,007,056 (GRCm39)	D147Y	probably benign	Het
Smap2	T	C	4: 120,873,984 (GRCm39)	E22G	possibly damaging	Het
Szt2	T	C	4: 118,245,519 (GRCm39)	T1098A	probably benign	Het
Tbcc	T	C	17: 47,201,788 (GRCm39)	F58S	probably damaging	Het
Tekt3	G	A	11: 62,961,134 (GRCm39)	R101H	probably damaging	Het
Vcan	T	A	13: 89,838,991 (GRCm39)	E2184D	probably damaging	Het
Vkorc1	T	C	7: 127,493,760 (GRCm39)	E18G	probably benign	Het
Vmn1r68	T	C	7: 10,261,723 (GRCm39)	H125R	probably benign	Het
Vmn2r63	C	A	7: 42,553,169 (GRCm39)	V696L	probably benign	Het
Wdr59	G	A	8: 112,208,620 (GRCm39)	H421Y	probably benign	Het
Xkr7	T	C	2: 152,896,873 (GRCm39)	Y576H	probably damaging	Het
Zfp112	T	C	7: 23,824,281 (GRCm39)	V83A	possibly damaging	Het
Zfp616	G	A	11: 73,974,336 (GRCm39)	V293I	probably benign	Het

Other mutations in Cma2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01870:Cma2	APN	14	56,211,194 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACCCAGAAGTATGAATGGGC -3'
(R):5'- AGCAGCACTCAGAGACTTCC -3'

Sequencing Primer
(F):5'- CCCAGAAGTATGAATGGGCATTGTG -3'
(R):5'- GCACTCAGAGACTTCCTCAGG -3'

Posted On

2016-07-06