Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Mical2'

617453

Institutional Source

Beutler Lab

Gene Symbol

Mical2

Ensembl Gene

ENSMUSG00000038244

Gene Name

microtubule associated monooxygenase, calponin and LIM domain containing 2

Synonyms

5330438E18Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112225856-112355194 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112303767 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 148 (K148N)

Ref Sequence

ENSEMBL: ENSMUSP00000047639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037991] [ENSMUST00000050149]

AlphaFold

Q8BML1
Q9D5U9

Predicted Effect

probably damaging
Transcript: ENSMUST00000037991
AA Change: K148N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047639
Gene: ENSMUSG00000038244
AA Change: K148N

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_3	86	143	1e-8	PFAM
Pfam:FAD_binding_2	88	127	3.2e-6	PFAM
low complexity region	175	188	N/A	INTRINSIC
low complexity region	500	515	N/A	INTRINSIC
CH	518	617	4.14e-17	SMART
low complexity region	691	700	N/A	INTRINSIC
low complexity region	894	925	N/A	INTRINSIC
LIM	979	1033	9.91e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000050149
AA Change: K148N

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

SMART Domains

Protein: ENSMUSP00000051163
Gene: ENSMUSG00000038244
AA Change: K148N

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_3	86	143	1.1e-8	PFAM
Pfam:FAD_binding_2	88	127	1.5e-6	PFAM
Pfam:Pyr_redox_2	88	259	1.3e-6	PFAM
low complexity region	500	515	N/A	INTRINSIC
CH	518	617	4.14e-17	SMART
low complexity region	691	700	N/A	INTRINSIC
LIM	752	806	9.91e-10	SMART
low complexity region	918	926	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,223,854	T1386S	probably benign	Het
AI661453	T	G	17: 47,466,236	S296A	unknown	Het
Ambp	G	T	4: 63,144,197	N268K	probably damaging	Het
Ankrd11	T	C	8: 122,887,593	K2503E	probably damaging	Het
Ap1g1	C	A	8: 109,832,735	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,470,149		probably null	Het
Aspa	A	C	11: 73,322,206	N103K	probably benign	Het
BC049730	T	A	7: 24,714,174	I205N	possibly damaging	Het
Bend7	G	A	2: 4,752,779	V211I	probably benign	Het
Bsn	A	G	9: 108,114,404	M1383T	probably benign	Het
Cad	G	T	5: 31,068,806	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,590,301	L856S	probably damaging	Het
Cdh7	T	A	1: 110,061,108	S247T	probably benign	Het
Ces1b	A	G	8: 93,069,315		probably null	Het
Chd7	T	A	4: 8,751,605	V34E	unknown	Het
Clca3a2	A	T	3: 144,805,766	F623I	probably damaging	Het
Cope	T	G	8: 70,312,803	M217R	probably benign	Het
Crim1	T	A	17: 78,315,555	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,918,566	I644N	probably damaging	Het
Cry1	G	A	10: 85,146,402	A360V	probably damaging	Het
Ctcfl	A	T	2: 173,118,766	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,616,114	Q475*	probably null	Het
Cyp39a1	T	C	17: 43,746,577	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,977,668	Q484L	probably benign	Het
Dnah1	A	G	14: 31,265,014	F3607S	probably damaging	Het
Dnali1	T	A	4: 125,065,530	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,153,330	I313V	probably benign	Het
Ehhadh	C	A	16: 21,777,820	A53S	probably benign	Het
Epcam	T	C	17: 87,646,308	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062	I155V	possibly damaging	Het
Fgd6	A	T	10: 94,044,344	K353N	possibly damaging	Het
Glce	A	T	9: 62,060,591	M426K	probably benign	Het
Glmp	A	T	3: 88,326,520	N228I	probably damaging	Het
Gm4787	C	A	12: 81,377,720	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,409,376	H273L	probably benign	Het
Gzmg	T	A	14: 56,157,446	T122S	probably benign	Het
Hace1	T	C	10: 45,700,970	V820A	probably damaging	Het
Igf2r	T	A	17: 12,718,795	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,458,873	M20V	probably benign	Het
Kcnn3	T	G	3: 89,609,703	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,473,239	F94Y	unknown	Het
Kmt2c	C	T	5: 25,281,680	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,782,557	E740G	probably benign	Het
Lmod3	T	C	6: 97,248,299	D187G	probably benign	Het
Lsm3	C	T	6: 91,519,561	H49Y	probably benign	Het
Magi1	T	C	6: 93,697,365	S962G	probably damaging	Het
Man2b1	G	A	8: 85,095,613	R782Q	probably damaging	Het
Nbeal1	C	T	1: 60,260,272	Q1256*	probably null	Het
Ncam1	G	T	9: 49,564,892	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,681,794	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,624,287	N28D	probably benign	Het
Nprl2	A	C	9: 107,543,061	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510	I88N	probably damaging	Het
Oas3	A	G	5: 120,756,966	I986T	possibly damaging	Het
Olfr809	A	T	10: 129,776,785	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,099,293	Y187F	possibly damaging	Het
Pgc	A	G	17: 47,728,776	T32A	probably benign	Het
Ranbp2	A	C	10: 58,485,861	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,479	R46G		Het
Rrbp1	C	A	2: 143,956,792	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,967,232	T676S	probably benign	Het
Setdb1	A	T	3: 95,338,599	F672I	probably damaging	Het
Setdb1	T	A	3: 95,347,085	D195V	probably damaging	Het
Slc12a8	A	G	16: 33,625,086	E450G	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc25a12	A	T	2: 71,275,189	V667E	unknown	Het
Slc39a3	T	C	10: 81,031,277	T212A	probably benign	Het
Slc45a1	C	T	4: 150,638,309	G373S	possibly damaging	Het
Snx11	G	A	11: 96,772,854	T53M	probably damaging	Het
Snx33	A	G	9: 56,925,340	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stk32a	C	T	18: 43,315,101	Q382*	probably null	Het
Sun3	C	A	11: 9,023,376	S167I	probably damaging	Het
Sycp2	A	G	2: 178,355,062	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,752,447	T913P	probably damaging	Het
Trav8d-1	C	T	14: 52,778,827	Q57*	probably null	Het
Trio	C	G	15: 27,749,866	V2250L	probably benign	Het
Unc119b	A	T	5: 115,127,043	I204N	probably damaging	Het
Usp4	A	G	9: 108,378,471	E576G	probably damaging	Het
Uvssa	T	A	5: 33,409,504	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,732,338	Y43C	probably damaging	Het
Xpo6	G	A	7: 126,169,254	L94F	probably benign	Het
Zbtb11	A	G	16: 56,006,020	K804R	probably damaging	Het
Zfp616	A	G	11: 74,084,068	R479G	probably benign	Het
Zfp661	T	C	2: 127,577,924	T99A	probably benign	Het
Zfp839	A	T	12: 110,855,098	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,189,568		probably null	Het

Other mutations in Mical2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Mical2	APN	7	112315072	missense	probably benign	0.00
IGL00934:Mical2	APN	7	112349403	missense	probably damaging	1.00
IGL00941:Mical2	APN	7	112321445	splice site	probably benign
IGL01020:Mical2	APN	7	112315076	splice site	probably benign
IGL01395:Mical2	APN	7	112323585	missense	probably damaging	1.00
IGL01658:Mical2	APN	7	112314998	missense	probably damaging	1.00
IGL02040:Mical2	APN	7	112311406	missense	probably damaging	1.00
IGL02388:Mical2	APN	7	112335413	missense	probably benign
IGL02551:Mical2	APN	7	112323990	missense	probably benign	0.01
IGL02578:Mical2	APN	7	112351373	missense	probably benign	0.05
IGL02751:Mical2	APN	7	112332036	missense	probably benign	0.11
R0101:Mical2	UTSW	7	112336867	missense	possibly damaging	0.86
R0504:Mical2	UTSW	7	112271317	missense	probably benign	0.00
R0594:Mical2	UTSW	7	112318450	missense	probably damaging	0.97
R0609:Mical2	UTSW	7	112321440	splice site	probably null
R1542:Mical2	UTSW	7	112309468	missense	probably damaging	1.00
R1740:Mical2	UTSW	7	112333836	missense	probably benign
R1855:Mical2	UTSW	7	112345282	missense	probably benign	0.21
R2086:Mical2	UTSW	7	112318603	missense	probably benign	0.31
R2136:Mical2	UTSW	7	112271515	missense	possibly damaging	0.72
R2418:Mical2	UTSW	7	112320734	critical splice donor site	probably null
R3053:Mical2	UTSW	7	112311423	missense	probably damaging	1.00
R4308:Mical2	UTSW	7	112331992	missense	probably benign	0.27
R4663:Mical2	UTSW	7	112328677	missense	possibly damaging	0.80
R4868:Mical2	UTSW	7	112318624	missense	probably damaging	1.00
R4902:Mical2	UTSW	7	112336900	missense	probably benign
R5112:Mical2	UTSW	7	112320611	missense	probably damaging	1.00
R5487:Mical2	UTSW	7	112320635	missense	probably damaging	1.00
R5563:Mical2	UTSW	7	112314978	missense	probably damaging	1.00
R5817:Mical2	UTSW	7	112323659	missense	probably benign
R5987:Mical2	UTSW	7	112334948	missense	probably benign	0.00
R6087:Mical2	UTSW	7	112318485	nonsense	probably null
R6209:Mical2	UTSW	7	112324086	splice site	probably null
R6311:Mical2	UTSW	7	112323558	missense	probably damaging	1.00
R6319:Mical2	UTSW	7	112328677	missense	possibly damaging	0.80
R6578:Mical2	UTSW	7	112311445	missense	probably damaging	1.00
R6782:Mical2	UTSW	7	112346761	missense	probably damaging	1.00
R7061:Mical2	UTSW	7	112346801	missense	probably benign	0.10
R7147:Mical2	UTSW	7	112323603	missense	possibly damaging	0.77
R7260:Mical2	UTSW	7	112319794	missense	probably benign	0.10
R7266:Mical2	UTSW	7	112303756	missense	probably damaging	1.00
R7391:Mical2	UTSW	7	112320609	missense	probably damaging	1.00
R7724:Mical2	UTSW	7	112323626	missense	probably damaging	1.00
R7747:Mical2	UTSW	7	112333839	missense	probably benign	0.02
R7818:Mical2	UTSW	7	112345307	missense	probably damaging	1.00
R8429:Mical2	UTSW	7	112345253	missense	probably benign	0.01
R8505:Mical2	UTSW	7	112319800	missense	probably benign	0.02
R8532:Mical2	UTSW	7	112318544	missense	probably damaging	1.00
R8862:Mical2	UTSW	7	112311367	missense	probably damaging	1.00
R8988:Mical2	UTSW	7	112311454	missense	possibly damaging	0.63
R9123:Mical2	UTSW	7	112271382	missense	possibly damaging	0.61
R9127:Mical2	UTSW	7	112271382	missense	possibly damaging	0.61
R9128:Mical2	UTSW	7	112271382	missense	possibly damaging	0.61
R9129:Mical2	UTSW	7	112271382	missense	possibly damaging	0.61
R9187:Mical2	UTSW	7	112303590	nonsense	probably null
R9310:Mical2	UTSW	7	112351713	missense	probably benign	0.45
R9399:Mical2	UTSW	7	112346875	missense	probably damaging	1.00
R9500:Mical2	UTSW	7	112336847	critical splice acceptor site	probably null
RF008:Mical2	UTSW	7	112323626	missense	probably damaging	1.00
X0062:Mical2	UTSW	7	112346843	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCCTAGACACTCAAGGTTTC -3'
(R):5'- TTCACAGTCCTCCAGGTAACAC -3'

Sequencing Primer
(F):5'- ACAGTGTCTCATCGTCGGAG -3'
(R):5'- TAACACCTGAGAGTTGGATGAATG -3'

Posted On

2020-01-23