Mutagenetix > Incidental Mutation

Incidental Mutation 'R2055:Mmp23'

226578

Institutional Source

Beutler Lab

Gene Symbol

Mmp23

Ensembl Gene

ENSMUSG00000029061

Gene Name

matrix metallopeptidase 23

Synonyms

CA-MMP, cysteine array matrix metalloproteinase

MMRRC Submission

040060-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155735112-155737841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155736444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 199 (K199R)

Ref Sequence

ENSEMBL: ENSMUSP00000030937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030937] [ENSMUST00000067081] [ENSMUST00000103176] [ENSMUST00000105598] [ENSMUST00000105600] [ENSMUST00000141108]

AlphaFold

O88676

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030937
AA Change: K199R

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030937
Gene: ENSMUSG00000029061
AA Change: K199R

Domain	Start	End	E-Value	Type
low complexity region	19	41	N/A	INTRINSIC
ZnMc	85	256	8.39e-48	SMART
ShKT	255	291	4.06e-10	SMART
IG	307	390	4.53e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000067081

SMART Domains

Protein: ENSMUSP00000070527
Gene: ENSMUSG00000029062

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
low complexity region	93	112	N/A	INTRINSIC
coiled coil region	123	214	N/A	INTRINSIC
low complexity region	252	259	N/A	INTRINSIC
low complexity region	261	272	N/A	INTRINSIC
coiled coil region	290	337	N/A	INTRINSIC
low complexity region	369	383	N/A	INTRINSIC
S_TKc	427	712	5.05e-93	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103176

SMART Domains

Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060

Domain	Start	End	E-Value	Type
Pfam:MIB_HERC2	12	78	3.4e-26	PFAM
ZnF_ZZ	85	130	6.44e-9	SMART
Pfam:MIB_HERC2	160	225	4.2e-26	PFAM
Blast:ANK	285	320	2e-13	BLAST
ANK	428	457	8.52e-4	SMART
ANK	461	490	6.71e-2	SMART
ANK	494	523	9.93e-5	SMART
ANK	527	559	1.1e2	SMART
ANK	563	593	9.21e0	SMART
ANK	597	627	3.57e-6	SMART
ANK	631	660	3.31e-1	SMART
ANK	664	709	1.73e3	SMART
Blast:ANK	733	762	9e-10	BLAST
low complexity region	763	772	N/A	INTRINSIC
RING	798	832	2.55e-1	SMART
RING	877	909	1.81e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105598

SMART Domains

Protein: ENSMUSP00000101223
Gene: ENSMUSG00000029062

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	59	78	N/A	INTRINSIC
coiled coil region	89	180	N/A	INTRINSIC
low complexity region	218	225	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
coiled coil region	256	303	N/A	INTRINSIC
low complexity region	335	349	N/A	INTRINSIC
S_TKc	393	678	5.05e-93	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105600

SMART Domains

Protein: ENSMUSP00000101225
Gene: ENSMUSG00000029062

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
low complexity region	93	112	N/A	INTRINSIC
coiled coil region	123	214	N/A	INTRINSIC
low complexity region	252	259	N/A	INTRINSIC
low complexity region	261	272	N/A	INTRINSIC
coiled coil region	290	337	N/A	INTRINSIC
low complexity region	369	383	N/A	INTRINSIC
S_TKc	427	712	5.05e-93	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139242

Predicted Effect

probably benign
Transcript: ENSMUST00000141108

SMART Domains

Protein: ENSMUSP00000122269
Gene: ENSMUSG00000029060

Domain	Start	End	E-Value	Type
Pfam:MIB_HERC2	1	52	7.1e-17	PFAM
internal_repeat_1	82	150	7.77e-12	PROSPERO
internal_repeat_1	153	220	7.77e-12	PROSPERO
ANK	289	318	8.52e-4	SMART
ANK	322	351	6.71e-2	SMART
Pfam:Ank	356	375	2.9e-4	PFAM

Meta Mutation Damage Score

0.1273

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded protein contains an N-terminal cysteine array and a novel immunoglobulin-fold domain at the C-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing. [provided by RefSeq, Feb 2016]

Allele List at MGI

All alleles(5) : Targeted(2) Gene trapped(3)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,107 (GRCm39)	E185G	probably damaging	Het
3425401B19Rik	A	G	14: 32,384,508 (GRCm39)	S486P	probably benign	Het
A630023A22Rik	T	C	14: 33,774,707 (GRCm39)		probably benign	Het
Abca1	T	C	4: 53,069,881 (GRCm39)	N1271S	probably benign	Het
AI597479	C	T	1: 43,150,280 (GRCm39)	A130V	probably benign	Het
Angptl4	A	G	17: 33,999,498 (GRCm39)		probably null	Het
Arhgef25	T	A	10: 127,021,004 (GRCm39)	N294I	probably damaging	Het
Atp2b1	T	C	10: 98,850,421 (GRCm39)	V848A	probably damaging	Het
Bard1	T	C	1: 71,114,031 (GRCm39)	T317A	probably benign	Het
C1rl	T	C	6: 124,470,781 (GRCm39)	W30R	probably benign	Het
Cchcr1	A	G	17: 35,837,317 (GRCm39)	E379G	probably damaging	Het
Cfap36	G	T	11: 29,197,122 (GRCm39)	A3E	probably damaging	Het
Cilp	G	A	9: 65,186,997 (GRCm39)	G1031S	probably damaging	Het
Clca4a	A	G	3: 144,676,489 (GRCm39)	Y64H	probably damaging	Het
Cops5	A	G	1: 10,102,562 (GRCm39)		probably null	Het
Cracr2a	G	T	6: 127,585,564 (GRCm39)	E121*	probably null	Het
Cstf1	A	G	2: 172,222,403 (GRCm39)	E387G	probably benign	Het
D630044L22Rik	A	C	17: 26,180,951 (GRCm39)	D733E	probably damaging	Het
Dlc1	A	T	8: 37,060,535 (GRCm39)	C514S	probably damaging	Het
Dmwd	G	T	7: 18,810,610 (GRCm39)	R139L	probably benign	Het
Dnah17	A	T	11: 117,958,357 (GRCm39)	S2709T	probably benign	Het
Dnmt3a	T	C	12: 3,922,859 (GRCm39)	I154T	probably benign	Het
Dpp7	T	C	2: 25,244,490 (GRCm39)	N297S	possibly damaging	Het
Ern2	A	T	7: 121,783,168 (GRCm39)	V34D	possibly damaging	Het
Erp27	A	G	6: 136,885,227 (GRCm39)		probably benign	Het
F2	T	C	2: 91,458,787 (GRCm39)	T508A	probably benign	Het
Fam181b	A	G	7: 92,729,634 (GRCm39)	T136A	probably benign	Het
Fam227b	C	A	2: 125,942,874 (GRCm39)	V308L	probably benign	Het
Fbxw20	A	T	9: 109,050,442 (GRCm39)	H394Q	probably damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Glt8d1	T	G	14: 30,731,693 (GRCm39)	S111A	probably benign	Het
Gm11146	A	T	16: 77,391,969 (GRCm39)		probably benign	Het
Grip1	C	T	10: 119,885,416 (GRCm39)		probably benign	Het
H2-Q2	A	T	17: 35,564,247 (GRCm39)	T334S	probably benign	Het
Hcrtr1	A	G	4: 130,024,680 (GRCm39)	V402A	probably benign	Het
Hmcn2	C	A	2: 31,268,294 (GRCm39)	A1130D	probably benign	Het
Hsd17b2	T	C	8: 118,428,913 (GRCm39)	L60P	possibly damaging	Het
Htr1f	A	T	16: 64,746,398 (GRCm39)	I298N	probably damaging	Het
Ighmbp2	G	T	19: 3,315,095 (GRCm39)	A775D	probably benign	Het
Kcnn3	A	G	3: 89,428,682 (GRCm39)	T303A	probably damaging	Het
Kiz	C	A	2: 146,733,203 (GRCm39)	Q460K	probably benign	Het
Krt75	C	T	15: 101,481,196 (GRCm39)	V193I	probably benign	Het
Lsp1	G	A	7: 142,043,144 (GRCm39)		probably null	Het
Mfsd12	A	G	10: 81,196,063 (GRCm39)	H146R	probably damaging	Het
Naip2	A	G	13: 100,315,880 (GRCm39)	V300A	probably benign	Het
Nbeal1	C	T	1: 60,350,216 (GRCm39)	L2422F	probably damaging	Het
Nbeal2	G	T	9: 110,464,375 (GRCm39)	D1094E	possibly damaging	Het
Nckap5	T	C	1: 125,954,635 (GRCm39)	E639G	probably damaging	Het
Nr4a3	A	G	4: 48,067,771 (GRCm39)	I456V	possibly damaging	Het
Or2t43	A	G	11: 58,457,673 (GRCm39)	F166S	probably damaging	Het
Parp9	G	T	16: 35,773,984 (GRCm39)	V86L	probably damaging	Het
Phactr1	A	G	13: 43,231,416 (GRCm39)	N386S	probably damaging	Het
Pold2	A	T	11: 5,823,516 (GRCm39)	Y304*	probably null	Het
Pou5f2	A	G	13: 78,173,940 (GRCm39)	Y294C	probably benign	Het
Rars1	A	G	11: 35,717,410 (GRCm39)		probably benign	Het
Rbm12b1	A	G	4: 12,145,606 (GRCm39)	E526G	probably benign	Het
Sacs	T	C	14: 61,451,498 (GRCm39)	Y4515H	probably damaging	Het
Sdk2	C	A	11: 113,741,780 (GRCm39)	R813L	probably damaging	Het
Six5	T	C	7: 18,829,154 (GRCm39)	V198A	possibly damaging	Het
Slco1a7	A	T	6: 141,671,181 (GRCm39)	H430Q	probably benign	Het
Spata31e2	A	T	1: 26,724,813 (GRCm39)	N122K	possibly damaging	Het
Spn	A	G	7: 126,736,388 (GRCm39)	S40P	probably damaging	Het
Ssr1	A	G	13: 38,171,761 (GRCm39)		probably benign	Het
Tlr6	C	A	5: 65,111,269 (GRCm39)	C546F	probably damaging	Het
Top1	T	A	2: 160,544,748 (GRCm39)		probably benign	Het
Trhr2	A	G	8: 123,085,532 (GRCm39)	S151P	probably damaging	Het
Tubb2b	T	G	13: 34,311,708 (GRCm39)	K362Q	probably benign	Het
Unc13c	T	C	9: 73,643,832 (GRCm39)	T1211A	probably damaging	Het
Vmn1r15	T	C	6: 57,235,729 (GRCm39)	V199A	possibly damaging	Het
Vnn1	A	G	10: 23,776,475 (GRCm39)		probably benign	Het
Vps41	T	A	13: 19,038,786 (GRCm39)	N737K	possibly damaging	Het
Vps50	T	A	6: 3,522,265 (GRCm39)	N144K	probably benign	Het
Zc3h7a	A	T	16: 10,955,340 (GRCm39)	N911K	probably benign	Het
Zkscan7	T	A	9: 122,718,002 (GRCm39)	S132R	probably damaging	Het

Other mutations in Mmp23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Mmp23	APN	4	155,735,464 (GRCm39)	missense	possibly damaging	0.67
IGL02749:Mmp23	APN	4	155,735,989 (GRCm39)	missense	possibly damaging	0.65
R0030:Mmp23	UTSW	4	155,735,768 (GRCm39)	nonsense	probably null
R0173:Mmp23	UTSW	4	155,735,222 (GRCm39)	missense	possibly damaging	0.82
R0244:Mmp23	UTSW	4	155,736,589 (GRCm39)	missense	probably damaging	1.00
R1521:Mmp23	UTSW	4	155,735,174 (GRCm39)	missense	possibly damaging	0.92
R1696:Mmp23	UTSW	4	155,735,166 (GRCm39)	makesense	probably null
R1957:Mmp23	UTSW	4	155,736,509 (GRCm39)	missense	possibly damaging	0.96
R3946:Mmp23	UTSW	4	155,736,480 (GRCm39)	missense	probably damaging	1.00
R4170:Mmp23	UTSW	4	155,735,767 (GRCm39)	missense	probably damaging	0.99
R5153:Mmp23	UTSW	4	155,735,797 (GRCm39)	missense	probably damaging	1.00
R5660:Mmp23	UTSW	4	155,735,710 (GRCm39)	missense	probably damaging	1.00
R6193:Mmp23	UTSW	4	155,735,990 (GRCm39)	missense	possibly damaging	0.90
R6480:Mmp23	UTSW	4	155,736,798 (GRCm39)	missense	probably damaging	1.00
R7426:Mmp23	UTSW	4	155,736,041 (GRCm39)	missense	probably damaging	1.00
R7979:Mmp23	UTSW	4	155,736,462 (GRCm39)	missense	possibly damaging	0.90
R9500:Mmp23	UTSW	4	155,736,567 (GRCm39)	missense	probably benign	0.17
R9545:Mmp23	UTSW	4	155,735,980 (GRCm39)	missense	probably benign	0.00
R9757:Mmp23	UTSW	4	155,735,515 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCTTCAGGAATGCAACTC -3'
(R):5'- TTAGGTTTCTACCCAGTCAACC -3'

Sequencing Primer
(F):5'- TTCAGGAATGCAACTCCAACTC -3'
(R):5'- ACCACACCGACTGCTTGGTC -3'

Posted On

2014-09-17