Mutagenetix > Incidental Mutation

Incidental Mutation 'R8860:Cma2'

675626

Institutional Source

Beutler Lab

Gene Symbol

Cma2

Ensembl Gene

ENSMUSG00000068289

Gene Name

chymase 2, mast cell

Synonyms

MMRRC Submission

068678-MU

Accession Numbers

Essential gene?

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

Stock #

R8860 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56188437-56211488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56210574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 143 (C143F)

Ref Sequence

ENSEMBL: ENSMUSP00000086984 (fasta)

Gene Model

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

AlphaFold

Q91VB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000089555
AA Change: C143F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086984
Gene: ENSMUSG00000068289
AA Change: C143F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228263
AA Change: C87F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	G	12: 71,231,197 (GRCm39)	V985G	possibly damaging	Het
Acr	T	G	15: 89,458,057 (GRCm39)	M246R	probably damaging	Het
Ago4	A	T	4: 126,387,043 (GRCm39)	D853E	probably benign	Het
Atf6	A	T	1: 170,680,535 (GRCm39)	F52L	probably null	Het
Blm	A	T	7: 80,144,276 (GRCm39)	C782S	probably benign	Het
C2cd5	A	G	6: 143,028,946 (GRCm39)	Y98H	probably benign	Het
Ccdc106	A	G	7: 5,062,570 (GRCm39)	D192G	probably benign	Het
Celf2	A	G	2: 6,565,468 (GRCm39)		probably null	Het
Chd1l	A	G	3: 97,477,685 (GRCm39)	F690S	probably benign	Het
Chuk	A	G	19: 44,076,407 (GRCm39)	S435P	possibly damaging	Het
Cisd3	T	A	11: 97,576,703 (GRCm39)	S10T	probably benign	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Cnppd1	A	G	1: 75,113,063 (GRCm39)	S402P	probably damaging	Het
Crtc1	A	G	8: 70,840,805 (GRCm39)	S474P	probably damaging	Het
Dhx38	A	T	8: 110,289,361 (GRCm39)	L13*	probably null	Het
Fat4	A	T	3: 38,946,269 (GRCm39)	T1721S	probably benign	Het
Fntb	T	A	12: 76,934,826 (GRCm39)	V201E	possibly damaging	Het
Gga3	T	C	11: 115,481,244 (GRCm39)	D242G	probably benign	Het
Hif3a	A	T	7: 16,774,912 (GRCm39)	M562K	probably benign	Het
Hnrnpc	A	G	14: 52,312,792 (GRCm39)	S261P	possibly damaging	Het
Intu	G	A	3: 40,627,162 (GRCm39)	M314I	probably benign	Het
Lims1	C	T	10: 58,243,925 (GRCm39)	Q126*	probably null	Het
Lrrc14b	T	A	13: 74,509,408 (GRCm39)	D333V	probably damaging	Het
Meaf6	T	A	4: 124,979,990 (GRCm39)	L48Q	probably damaging	Het
Miip	T	A	4: 147,950,839 (GRCm39)		probably benign	Het
Myh4	T	A	11: 67,132,335 (GRCm39)	I155N	probably damaging	Het
Nnt	T	C	13: 119,476,407 (GRCm39)	Y733C		Het
Nup155	T	C	15: 8,159,640 (GRCm39)	V517A	possibly damaging	Het
Obscn	C	T	11: 58,898,440 (GRCm39)	R6607Q	unknown	Het
Or2ak7	C	T	11: 58,574,966 (GRCm39)	T89I	probably benign	Het
Or51s1	A	G	7: 102,558,336 (GRCm39)	S237P	probably benign	Het
Ptprg	T	C	14: 12,213,685 (GRCm38)	Y1018H	probably damaging	Het
Rdh8	A	C	9: 20,734,021 (GRCm39)	N69T	probably benign	Het
Rgsl1	G	A	1: 153,697,100 (GRCm39)	Q572*	probably null	Het
Septin7	A	T	9: 25,163,980 (GRCm39)	N16Y	possibly damaging	Het
Sparcl1	T	C	5: 104,241,218 (GRCm39)	N69D	probably benign	Het
Ssh3	A	T	19: 4,317,992 (GRCm39)	V41E	probably damaging	Het
Tmem253	A	G	14: 52,256,303 (GRCm39)	R168G	probably benign	Het
Vmn2r60	T	A	7: 41,791,654 (GRCm39)	F526I	probably damaging	Het
Vmn2r73	A	T	7: 85,522,149 (GRCm39)		probably benign	Het
Vps4b	A	G	1: 106,710,414 (GRCm39)	F156L	possibly damaging	Het
Zfp354c	T	A	11: 50,706,019 (GRCm39)	H352L	probably damaging	Het
Zic2	A	T	14: 122,713,530 (GRCm39)	H148L	possibly damaging	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
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
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'- TGTTGTTGCTGCCCCAATG -3'
(R):5'- GAGATGCTTGGCACACTTCC -3'

Sequencing Primer
(F):5'- CAATGGGAAAGAACCCATG -3'
(R):5'- GTGTGTACTCACCATGTATACTGATG -3'

Posted On

2021-07-15