Mutagenetix > Incidental Mutation

Incidental Mutation 'R7147:Mical2'

553878

Institutional Source

Beutler Lab

Gene Symbol

Mical2

Ensembl Gene

ENSMUSG00000038244

Gene Name

microtubule associated monooxygenase, calponin and LIM domain containing 2

Synonyms

4921517J23Rik, Ebitein1, 5330438E18Rik, Micalcl

MMRRC Submission

045224-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R7147 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111825063-112012313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111922810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 605 (P605L)

Ref Sequence

ENSEMBL: ENSMUSP00000047639 (fasta)

Gene Model

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

AlphaFold

Q8BML1
Q9D5U9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037991
AA Change: P605L

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047639
Gene: ENSMUSG00000038244
AA Change: P605L

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

possibly damaging
Transcript: ENSMUST00000050149
AA Change: P605L

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000051163
Gene: ENSMUSG00000038244
AA Change: P605L

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: 99.7%
20x: 98.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	C	T	14: 56,017,182 (GRCm39)	G303D	probably damaging	Het
Adgra3	C	T	5: 50,118,587 (GRCm39)	G987D	probably damaging	Het
Akap11	A	G	14: 78,748,905 (GRCm39)	S1161P		Het
Ampd3	G	A	7: 110,404,059 (GRCm39)	E528K	probably damaging	Het
Arl8b	G	A	6: 108,791,976 (GRCm39)	R79Q	probably damaging	Het
Atf4	AAGCGGGCTGAGC	AAGC	15: 80,141,500 (GRCm39)		probably benign	Het
Cald1	A	T	6: 34,723,231 (GRCm39)	Q105L		Het
Casd1	T	C	6: 4,624,187 (GRCm39)	Y327H	probably benign	Het
Chodl	T	A	16: 78,743,629 (GRCm39)	C239S	probably damaging	Het
D130043K22Rik	A	T	13: 25,066,546 (GRCm39)	H781L	probably benign	Het
Dlg1	A	T	16: 31,610,672 (GRCm39)	M318L	probably benign	Het
Dlgap1	T	C	17: 70,969,753 (GRCm39)	S520P	probably benign	Het
Dmxl2	T	C	9: 54,324,013 (GRCm39)	I950V	probably benign	Het
Dnah17	T	A	11: 117,985,755 (GRCm39)	T1441S	probably benign	Het
Dock7	A	T	4: 98,849,654 (GRCm39)	N1638K	unknown	Het
Ect2	A	T	3: 27,204,239 (GRCm39)	D23E	probably benign	Het
Ephx1	T	A	1: 180,829,384 (GRCm39)	T55S	probably damaging	Het
F11	T	C	8: 45,703,183 (GRCm39)	Y169C	probably damaging	Het
Fbxw27	A	G	9: 109,618,391 (GRCm39)		probably null	Het
Fhl5	T	A	4: 25,213,777 (GRCm39)		probably null	Het
Gm5145	G	A	17: 20,791,323 (GRCm39)	E234K	probably damaging	Het
Gpr39	G	A	1: 125,800,238 (GRCm39)	D330N	possibly damaging	Het
Greb1	C	T	12: 16,783,428 (GRCm39)	R102H	probably damaging	Het
H4c17	A	G	13: 21,996,159 (GRCm39)	D69G	probably damaging	Het
Ighmbp2	T	C	19: 3,321,676 (GRCm39)	K361R	probably benign	Het
Inpp4b	A	G	8: 82,629,400 (GRCm39)	D245G	probably damaging	Het
Ints14	T	C	9: 64,891,267 (GRCm39)	V416A	possibly damaging	Het
Kif21a	A	G	15: 90,865,086 (GRCm39)	S529P	probably benign	Het
Limk1	A	G	5: 134,686,195 (GRCm39)	M609T	probably benign	Het
Lrrc75a	G	A	11: 62,496,795 (GRCm39)	P256S	probably damaging	Het
Mcc	T	C	18: 44,626,580 (GRCm39)	R339G	probably damaging	Het
Mdga1	C	T	17: 30,065,495 (GRCm39)	W371*	probably null	Het
Mei4	T	A	9: 81,809,649 (GRCm39)	L244Q	probably damaging	Het
Mrgprf	G	T	7: 144,862,128 (GRCm39)	R230L	possibly damaging	Het
Nlgn1	T	A	3: 26,187,509 (GRCm39)	R125S	probably benign	Het
Or52h7	A	G	7: 104,213,273 (GRCm39)		probably benign	Het
Papola	A	T	12: 105,774,897 (GRCm39)		probably benign	Het
Pold2	T	C	11: 5,823,095 (GRCm39)	D360G	probably benign	Het
Prr12	T	C	7: 44,683,274 (GRCm39)	R1797G	unknown	Het
Psmg2	C	T	18: 67,786,338 (GRCm39)	P233S	probably benign	Het
Ptprh	A	G	7: 4,553,781 (GRCm39)	W857R	probably damaging	Het
Raet1e	A	T	10: 22,057,179 (GRCm39)	M168L	probably benign	Het
Rhbdl2	A	T	4: 123,703,908 (GRCm39)	Y61F	probably damaging	Het
Sacm1l	A	G	9: 123,398,016 (GRCm39)	N236S	probably damaging	Het
Sbf2	A	T	7: 110,046,268 (GRCm39)	S310T	probably benign	Het
Sdr42e2	A	T	7: 120,412,238 (GRCm39)	R33S	probably damaging	Het
Sh3d19	T	A	3: 86,011,584 (GRCm39)	I390N	possibly damaging	Het
Slco3a1	A	G	7: 74,154,042 (GRCm39)	Y177H	probably damaging	Het
Smo	G	A	6: 29,758,448 (GRCm39)	G531D	possibly damaging	Het
Snx25	A	C	8: 46,558,233 (GRCm39)	V258G	probably damaging	Het
Spata31d1b	T	A	13: 59,866,028 (GRCm39)	S1059T	probably benign	Het
Srgap2	C	T	1: 131,238,332 (GRCm39)	C274Y		Het
Srrm1	A	G	4: 135,074,137 (GRCm39)	I48T	probably damaging	Het
Syne1	A	T	10: 5,199,340 (GRCm39)	V3719E	probably damaging	Het
Tcerg1	T	A	18: 42,683,128 (GRCm39)	M616K	probably benign	Het
Tgtp2	G	C	11: 48,950,135 (GRCm39)	R146G	probably damaging	Het
Tie1	A	T	4: 118,341,610 (GRCm39)	V234D	probably damaging	Het
Tom1	A	G	8: 75,783,895 (GRCm39)	N293S	probably damaging	Het
Trim13	A	T	14: 61,842,080 (GRCm39)	K32N	probably damaging	Het
Trim6	G	A	7: 103,874,777 (GRCm39)	V5I	probably benign	Het
Vps11	A	T	9: 44,266,379 (GRCm39)	L436*	probably null	Het
Vps50	C	T	6: 3,567,750 (GRCm39)	Q549*	probably null	Het
Vtcn1	T	A	3: 100,791,210 (GRCm39)	F83I	probably damaging	Het
Zfp131	T	C	13: 120,228,079 (GRCm39)	T523A	probably benign	Het
Zfp758	A	T	17: 22,594,981 (GRCm39)	Y489F	possibly damaging	Het
Zfp804a	T	C	2: 82,088,531 (GRCm39)	Y787H	probably benign	Het
Zfp9	C	T	6: 118,441,963 (GRCm39)	C233Y	probably damaging	Het

Other mutations in Mical2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Mical2	APN	7	111,981,352 (GRCm39)	missense	possibly damaging	0.94
IGL00886:Mical2	APN	7	111,914,279 (GRCm39)	missense	probably benign	0.00
IGL00934:Mical2	APN	7	111,948,610 (GRCm39)	missense	probably damaging	1.00
IGL00941:Mical2	APN	7	111,920,652 (GRCm39)	splice site	probably benign
IGL01020:Mical2	APN	7	111,914,283 (GRCm39)	splice site	probably benign
IGL01395:Mical2	APN	7	111,922,792 (GRCm39)	missense	probably damaging	1.00
IGL01658:Mical2	APN	7	111,914,205 (GRCm39)	missense	probably damaging	1.00
IGL01775:Mical2	APN	7	111,981,269 (GRCm39)	missense	possibly damaging	0.89
IGL02040:Mical2	APN	7	111,910,613 (GRCm39)	missense	probably damaging	1.00
IGL02051:Mical2	APN	7	111,980,597 (GRCm39)	missense	probably benign	0.30
IGL02388:Mical2	APN	7	111,934,620 (GRCm39)	missense	probably benign
IGL02551:Mical2	APN	7	111,923,197 (GRCm39)	missense	probably benign	0.01
IGL02578:Mical2	APN	7	111,950,580 (GRCm39)	missense	probably benign	0.05
IGL02751:Mical2	APN	7	111,931,243 (GRCm39)	missense	probably benign	0.11
IGL03114:Mical2	APN	7	111,996,764 (GRCm39)	missense	probably damaging	1.00
R0091:Mical2	UTSW	7	111,980,503 (GRCm39)	missense	probably benign	0.05
R0101:Mical2	UTSW	7	111,936,074 (GRCm39)	missense	possibly damaging	0.86
R0415:Mical2	UTSW	7	111,980,235 (GRCm39)	missense	probably damaging	1.00
R0504:Mical2	UTSW	7	111,870,524 (GRCm39)	missense	probably benign	0.00
R0594:Mical2	UTSW	7	111,917,657 (GRCm39)	missense	probably damaging	0.97
R0609:Mical2	UTSW	7	111,920,647 (GRCm39)	splice site	probably null
R0962:Mical2	UTSW	7	111,979,624 (GRCm39)	missense	probably damaging	0.99
R1521:Mical2	UTSW	7	111,980,817 (GRCm39)	missense	probably damaging	1.00
R1542:Mical2	UTSW	7	111,908,675 (GRCm39)	missense	probably damaging	1.00
R1611:Mical2	UTSW	7	111,980,671 (GRCm39)	missense	probably damaging	0.99
R1740:Mical2	UTSW	7	111,933,043 (GRCm39)	missense	probably benign
R1815:Mical2	UTSW	7	112,012,109 (GRCm39)	missense	probably damaging	1.00
R1855:Mical2	UTSW	7	111,944,489 (GRCm39)	missense	probably benign	0.21
R1958:Mical2	UTSW	7	111,980,311 (GRCm39)	missense	probably benign	0.00
R1962:Mical2	UTSW	7	112,012,051 (GRCm39)	missense	probably benign	0.14
R2086:Mical2	UTSW	7	111,917,810 (GRCm39)	missense	probably benign	0.31
R2136:Mical2	UTSW	7	111,870,722 (GRCm39)	missense	possibly damaging	0.72
R2418:Mical2	UTSW	7	111,919,941 (GRCm39)	critical splice donor site	probably null
R2439:Mical2	UTSW	7	111,994,002 (GRCm39)	missense	probably damaging	0.99
R3053:Mical2	UTSW	7	111,910,630 (GRCm39)	missense	probably damaging	1.00
R3979:Mical2	UTSW	7	112,006,885 (GRCm39)	splice site	probably null
R4308:Mical2	UTSW	7	111,931,199 (GRCm39)	missense	probably benign	0.27
R4551:Mical2	UTSW	7	111,981,123 (GRCm39)	missense	possibly damaging	0.87
R4583:Mical2	UTSW	7	112,012,154 (GRCm39)	missense	probably benign	0.02
R4663:Mical2	UTSW	7	111,927,884 (GRCm39)	missense	possibly damaging	0.80
R4868:Mical2	UTSW	7	111,917,831 (GRCm39)	missense	probably damaging	1.00
R4902:Mical2	UTSW	7	111,936,107 (GRCm39)	missense	probably benign
R5112:Mical2	UTSW	7	111,919,818 (GRCm39)	missense	probably damaging	1.00
R5459:Mical2	UTSW	7	111,981,444 (GRCm39)	missense	probably benign	0.00
R5487:Mical2	UTSW	7	111,919,842 (GRCm39)	missense	probably damaging	1.00
R5563:Mical2	UTSW	7	111,914,185 (GRCm39)	missense	probably damaging	1.00
R5763:Mical2	UTSW	7	111,973,861 (GRCm39)	critical splice donor site	probably null
R5817:Mical2	UTSW	7	111,922,866 (GRCm39)	missense	probably benign
R5987:Mical2	UTSW	7	111,934,155 (GRCm39)	missense	probably benign	0.00
R6042:Mical2	UTSW	7	111,979,619 (GRCm39)	missense	probably benign	0.40
R6087:Mical2	UTSW	7	111,917,692 (GRCm39)	nonsense	probably null
R6189:Mical2	UTSW	7	112,012,087 (GRCm39)	missense	probably damaging	1.00
R6209:Mical2	UTSW	7	111,923,293 (GRCm39)	splice site	probably null
R6311:Mical2	UTSW	7	111,922,765 (GRCm39)	missense	probably damaging	1.00
R6319:Mical2	UTSW	7	111,927,884 (GRCm39)	missense	possibly damaging	0.80
R6578:Mical2	UTSW	7	111,910,652 (GRCm39)	missense	probably damaging	1.00
R6750:Mical2	UTSW	7	111,981,046 (GRCm39)	missense	probably damaging	0.98
R6782:Mical2	UTSW	7	111,945,968 (GRCm39)	missense	probably damaging	1.00
R6798:Mical2	UTSW	7	111,975,266 (GRCm39)	utr 3 prime	probably benign
R7061:Mical2	UTSW	7	111,946,008 (GRCm39)	missense	probably benign	0.10
R7260:Mical2	UTSW	7	111,919,001 (GRCm39)	missense	probably benign	0.10
R7266:Mical2	UTSW	7	111,902,963 (GRCm39)	missense	probably damaging	1.00
R7347:Mical2	UTSW	7	111,981,358 (GRCm39)	missense	probably benign	0.01
R7391:Mical2	UTSW	7	111,919,816 (GRCm39)	missense	probably damaging	1.00
R7724:Mical2	UTSW	7	111,922,833 (GRCm39)	missense	probably damaging	1.00
R7747:Mical2	UTSW	7	111,933,046 (GRCm39)	missense	probably benign	0.02
R7783:Mical2	UTSW	7	112,012,183 (GRCm39)	missense	probably damaging	1.00
R7818:Mical2	UTSW	7	111,944,514 (GRCm39)	missense	probably damaging	1.00
R7824:Mical2	UTSW	7	112,006,844 (GRCm39)	missense	probably damaging	1.00
R7995:Mical2	UTSW	7	111,980,975 (GRCm39)	missense	probably benign	0.31
R8022:Mical2	UTSW	7	111,902,974 (GRCm39)	missense	probably damaging	1.00
R8429:Mical2	UTSW	7	111,944,460 (GRCm39)	missense	probably benign	0.01
R8505:Mical2	UTSW	7	111,919,007 (GRCm39)	missense	probably benign	0.02
R8532:Mical2	UTSW	7	111,917,751 (GRCm39)	missense	probably damaging	1.00
R8830:Mical2	UTSW	7	111,980,403 (GRCm39)	missense	probably benign	0.01
R8862:Mical2	UTSW	7	111,910,574 (GRCm39)	missense	probably damaging	1.00
R8906:Mical2	UTSW	7	111,980,671 (GRCm39)	missense	probably damaging	0.99
R8988:Mical2	UTSW	7	111,910,661 (GRCm39)	missense	possibly damaging	0.63
R9006:Mical2	UTSW	7	111,981,323 (GRCm39)	missense	probably benign	0.13
R9123:Mical2	UTSW	7	111,870,589 (GRCm39)	missense	possibly damaging	0.61
R9127:Mical2	UTSW	7	111,870,589 (GRCm39)	missense	possibly damaging	0.61
R9128:Mical2	UTSW	7	111,870,589 (GRCm39)	missense	possibly damaging	0.61
R9129:Mical2	UTSW	7	111,870,589 (GRCm39)	missense	possibly damaging	0.61
R9140:Mical2	UTSW	7	112,006,826 (GRCm39)	missense	probably damaging	1.00
R9187:Mical2	UTSW	7	111,902,797 (GRCm39)	nonsense	probably null
R9233:Mical2	UTSW	7	111,981,399 (GRCm39)	missense	probably benign	0.05
R9304:Mical2	UTSW	7	111,980,974 (GRCm39)	missense	probably damaging	0.97
R9310:Mical2	UTSW	7	111,950,920 (GRCm39)	missense	probably benign	0.45
R9377:Mical2	UTSW	7	111,981,246 (GRCm39)	missense	probably benign	0.10
R9399:Mical2	UTSW	7	111,946,082 (GRCm39)	missense	probably damaging	1.00
R9457:Mical2	UTSW	7	112,010,665 (GRCm39)	missense	probably damaging	0.96
R9500:Mical2	UTSW	7	111,936,054 (GRCm39)	critical splice acceptor site	probably null
R9620:Mical2	UTSW	7	111,980,403 (GRCm39)	missense	probably benign	0.01
R9652:Mical2	UTSW	7	111,945,996 (GRCm39)	missense	probably damaging	1.00
R9657:Mical2	UTSW	7	111,921,806 (GRCm39)	missense	probably benign	0.37
R9756:Mical2	UTSW	7	111,902,928 (GRCm39)	missense	probably damaging	0.99
R9789:Mical2	UTSW	7	111,945,996 (GRCm39)	missense	probably damaging	1.00
RF008:Mical2	UTSW	7	111,922,833 (GRCm39)	missense	probably damaging	1.00
X0062:Mical2	UTSW	7	111,946,050 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACTGGAAACTTCATCGTCC -3'
(R):5'- TTGGCCTCTGAGTCAAATGG -3'

Sequencing Primer
(F):5'- ACAGTGCTTCTTATGCGCAAG -3'
(R):5'- CCTCTGAGTCAAATGGAAGTTGTC -3'

Posted On

2019-05-15