Mutagenetix > Incidental Mutation

Incidental Mutation 'R7088:Cma1'

550042

Institutional Source

Beutler Lab

Gene Symbol

Cma1

Ensembl Gene

ENSMUSG00000022225

Gene Name

chymase 1, mast cell

Synonyms

Mcp-5, Mcpt5, Mcp5, MMCP-5

MMRRC Submission

045182-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R7088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56178908-56182132 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56181273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 44 (H44L)

Ref Sequence

ENSEMBL: ENSMUSP00000022834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022834] [ENSMUST00000226280]

AlphaFold

P21844

Predicted Effect

probably damaging
Transcript: ENSMUST00000022834
AA Change: H44L

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

SMART Domains

Protein: ENSMUSP00000022834
Gene: ENSMUSG00000022225
AA Change: H44L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Tryp_SPc	34	253	4.85e-73	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000226280
AA Change: H31L

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

Meta Mutation Damage Score

0.9128

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: This gene encodes a serine protease that belongs to the peptidase family S1. It is expressed in mast cells and is thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. The encoded preproprotein undergoes proteolytic processing to generate a functional enzyme with elastase-like activity. Mice lacking the encoded protein exhibit significant attenuation of ischemia-reperfusion injury of the skeletal muscle. This gene is located in a cluster of related mast cell protease genes on chromosome 14. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele display a reduction in mast cell-mediated ischemia reperfusion injury of skeletal muscle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	G	T	11: 83,331,232 (GRCm39)	E48*	probably null	Het
Acaca	T	C	11: 84,169,783 (GRCm39)		probably null	Het
Albfm1	T	A	5: 90,720,609 (GRCm39)	L260*	probably null	Het
Alkbh3	A	G	2: 93,835,097 (GRCm39)	S83P	possibly damaging	Het
Ammecr1l	T	C	18: 31,904,872 (GRCm39)	S38P	probably benign	Het
Armc10	T	C	5: 21,858,390 (GRCm39)	V145A	probably damaging	Het
BC048671	A	G	6: 90,280,222 (GRCm39)	K46R	probably null	Het
C2cd3	A	G	7: 100,065,388 (GRCm39)	T347A		Het
C8b	G	T	4: 104,650,540 (GRCm39)	E449D	probably benign	Het
Camk4	T	C	18: 33,072,584 (GRCm39)	S46P	probably benign	Het
Ccdc113	G	A	8: 96,264,733 (GRCm39)	R81H	probably benign	Het
Cd177	A	T	7: 24,444,558 (GRCm39)	C674*	probably null	Het
Cdc6	T	A	11: 98,810,065 (GRCm39)	V458D	probably damaging	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Ckap2	G	T	8: 22,659,882 (GRCm39)	P533Q	possibly damaging	Het
Cmya5	A	T	13: 93,228,372 (GRCm39)	S2239T	possibly damaging	Het
Cntnap5b	T	A	1: 100,087,802 (GRCm39)	I141N	probably damaging	Het
Col6a4	T	A	9: 105,877,885 (GRCm39)	T2031S	possibly damaging	Het
Cplane1	C	T	15: 8,248,431 (GRCm39)	T1660M	probably benign	Het
Cxcr5	T	A	9: 44,424,683 (GRCm39)	T325S	possibly damaging	Het
Dhx32	A	T	7: 133,344,417 (GRCm39)	L204Q	probably damaging	Het
Dse	A	G	10: 34,029,885 (GRCm39)	Y402H	probably damaging	Het
Ecpas	A	T	4: 58,849,766 (GRCm39)	L458I	possibly damaging	Het
Exoc6	G	T	19: 37,565,458 (GRCm39)	C178F	probably damaging	Het
Fam149a	A	G	8: 45,803,582 (GRCm39)	V384A	probably benign	Het
Fcrl5	T	C	3: 87,365,141 (GRCm39)	*597Q	probably null	Het
Fer1l6	A	G	15: 58,435,899 (GRCm39)	K431E	possibly damaging	Het
Fmo3	T	A	1: 162,796,434 (GRCm39)	H46L	probably benign	Het
Gcm2	T	C	13: 41,256,840 (GRCm39)	D303G	probably damaging	Het
Gk2	T	C	5: 97,603,534 (GRCm39)	M435V	probably damaging	Het
Gli1	C	A	10: 127,171,868 (GRCm39)	M295I	probably damaging	Het
Gm11444	G	T	11: 85,737,862 (GRCm39)	H109Q		Het
Gtpbp1	T	A	15: 79,603,483 (GRCm39)	D182E		Het
Hnf4g	A	T	3: 3,713,185 (GRCm39)		probably null	Het
Hsf2	G	A	10: 57,388,188 (GRCm39)	R483H	probably damaging	Het
Kcnq4	C	T	4: 120,561,596 (GRCm39)	R491H	probably damaging	Het
Lama3	T	C	18: 12,715,602 (GRCm39)	V1686A	possibly damaging	Het
Larp6	A	G	9: 60,631,638 (GRCm39)	K137E	probably damaging	Het
Mboat1	T	G	13: 30,379,772 (GRCm39)		probably null	Het
Mdh1	T	C	11: 21,508,484 (GRCm39)	Y286C	probably damaging	Het
Mga	G	T	2: 119,792,417 (GRCm39)	K2607N	probably damaging	Het
Morf4l1	C	A	9: 89,979,433 (GRCm39)	V183F	possibly damaging	Het
Mroh4	G	A	15: 74,497,993 (GRCm39)	R196W	probably benign	Het
Muc16	C	A	9: 18,503,976 (GRCm39)	M6438I	probably damaging	Het
Myom3	A	G	4: 135,530,589 (GRCm39)	Y1167C	probably damaging	Het
Neurl3	T	C	1: 36,308,302 (GRCm39)	E170G	possibly damaging	Het
Nsd3	T	C	8: 26,156,050 (GRCm39)	I539T	probably benign	Het
Nup155	T	C	15: 8,186,177 (GRCm39)	F1313S	probably benign	Het
Nxn	A	T	11: 76,153,974 (GRCm39)	V287E	possibly damaging	Het
Or4a80	G	A	2: 89,582,443 (GRCm39)	T243I	probably benign	Het
Or7a38	A	C	10: 78,753,593 (GRCm39)	L306F	probably benign	Het
Or8c13	C	A	9: 38,091,748 (GRCm39)	V124F	probably damaging	Het
Pax6	A	G	2: 105,526,753 (GRCm39)	N220D	probably benign	Het
Pcdha11	G	A	18: 37,138,470 (GRCm39)	R33H	probably benign	Het
Pdzd8	A	G	19: 59,333,389 (GRCm39)	F211L	probably damaging	Het
Pear1	C	A	3: 87,661,945 (GRCm39)	V477F	possibly damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Pidd1	A	T	7: 141,020,400 (GRCm39)	V539E	probably damaging	Het
Ptprg	A	T	14: 12,207,365 (GRCm38)	I878F	probably damaging	Het
Rabepk	T	C	2: 34,675,711 (GRCm39)	T140A	probably benign	Het
Ranbp2	G	T	10: 58,299,728 (GRCm39)	R454L	probably damaging	Het
Rnf123	C	T	9: 107,935,735 (GRCm39)	R943Q	probably null	Het
Sash1	G	A	10: 8,605,481 (GRCm39)	R970*	probably null	Het
Serpinb2	C	A	1: 107,452,422 (GRCm39)	F333L	probably damaging	Het
Shank3	T	A	15: 89,387,728 (GRCm39)		probably null	Het
Slc9a2	A	C	1: 40,765,539 (GRCm39)	I310L	probably damaging	Het
Strip2	T	A	6: 29,920,532 (GRCm39)		probably null	Het
Thoc3	T	C	13: 54,611,565 (GRCm39)	T241A	probably damaging	Het
Tmem139	T	A	6: 42,240,199 (GRCm39)	V2E	probably damaging	Het
Usp24	G	T	4: 106,244,743 (GRCm39)	V1233F	probably damaging	Het
Vnn1	A	G	10: 23,776,645 (GRCm39)	Q332R	probably benign	Het
Wac	T	A	18: 7,921,455 (GRCm39)	H530Q	probably damaging	Het
Wdr35	T	A	12: 9,028,659 (GRCm39)	N92K	probably benign	Het
Zbtb18	T	G	1: 177,274,820 (GRCm39)	L60R	probably damaging	Het
Zfp184	T	A	13: 22,144,162 (GRCm39)	C623S	probably damaging	Het
Zfp292	A	G	4: 34,806,796 (GRCm39)	Y2088H	probably damaging	Het
Zfp975	G	T	7: 42,312,096 (GRCm39)	S172R	probably benign	Het
Zswim2	G	A	2: 83,746,071 (GRCm39)	Q456*	probably null	Het

Other mutations in Cma1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01070:Cma1	APN	14	56,180,154 (GRCm39)	missense	probably benign	0.26
IGL02797:Cma1	APN	14	56,181,271 (GRCm39)	missense	possibly damaging	0.58
R0026:Cma1	UTSW	14	56,179,621 (GRCm39)	missense	probably damaging	1.00
R2029:Cma1	UTSW	14	56,181,191 (GRCm39)	missense	possibly damaging	0.81
R2060:Cma1	UTSW	14	56,181,155 (GRCm39)	critical splice donor site	probably null
R4994:Cma1	UTSW	14	56,179,128 (GRCm39)	missense	probably damaging	1.00
R5275:Cma1	UTSW	14	56,179,157 (GRCm39)	missense	probably damaging	1.00
R5794:Cma1	UTSW	14	56,181,977 (GRCm39)	missense	probably benign
R5824:Cma1	UTSW	14	56,179,182 (GRCm39)	missense	possibly damaging	0.79
R5955:Cma1	UTSW	14	56,181,226 (GRCm39)	missense	probably benign	0.20
R5958:Cma1	UTSW	14	56,179,113 (GRCm39)	makesense	probably null
R6075:Cma1	UTSW	14	56,179,771 (GRCm39)	missense	probably damaging	0.97
R6139:Cma1	UTSW	14	56,180,157 (GRCm39)	critical splice acceptor site	probably null
R7139:Cma1	UTSW	14	56,181,273 (GRCm39)	missense	probably damaging	1.00
R7220:Cma1	UTSW	14	56,180,120 (GRCm39)	missense	probably benign
R7988:Cma1	UTSW	14	56,181,989 (GRCm39)	missense	possibly damaging	0.53
R9171:Cma1	UTSW	14	56,181,189 (GRCm39)	missense	probably benign	0.28
R9627:Cma1	UTSW	14	56,181,289 (GRCm39)	missense	probably benign	0.07
R9803:Cma1	UTSW	14	56,179,186 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CATTTGTCAGTTGACCTAGGCTC -3'
(R):5'- AGCTGACAGAGATGCCTGAG -3'

Sequencing Primer
(F):5'- TCAGTTGACCTAGGCTCAGGATC -3'
(R):5'- ATGCCTGAGAGAAGTATGGC -3'

Posted On

2019-05-15