Mutagenetix > Incidental Mutation

Incidental Mutation 'R0620:Mtss2'

58606

Institutional Source

Beutler Lab

Gene Symbol

Mtss2

Ensembl Gene

ENSMUSG00000033763

Gene Name

MTSS I-BAR domain containing 2

Synonyms

Mtss1l, ABBA

MMRRC Submission

038809-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0620 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

111448108-111468032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111464580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 322 (P322S)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052457] [ENSMUST00000076846] [ENSMUST00000144041] [ENSMUST00000150680]

AlphaFold

Q6P9S0

Predicted Effect

probably benign
Transcript: ENSMUST00000052457
AA Change: P405S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000050211
Gene: ENSMUSG00000033763
AA Change: P405S

Domain	Start	End	E-Value	Type
Pfam:IMD	15	236	8.1e-108	PFAM
low complexity region	252	274	N/A	INTRINSIC
low complexity region	284	295	N/A	INTRINSIC
low complexity region	312	330	N/A	INTRINSIC
low complexity region	368	386	N/A	INTRINSIC
low complexity region	429	442	N/A	INTRINSIC
low complexity region	546	562	N/A	INTRINSIC
low complexity region	668	690	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000076846

SMART Domains

Protein: ENSMUSP00000076120
Gene: ENSMUSG00000031750

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:IL34	28	184	2e-79	PFAM
low complexity region	219	235	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133848

Predicted Effect

probably damaging
Transcript: ENSMUST00000141302
AA Change: P322S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116518
Gene: ENSMUSG00000033763
AA Change: P322S

Domain	Start	End	E-Value	Type
Pfam:IMD	1	122	1e-56	PFAM
low complexity region	138	179	N/A	INTRINSIC
low complexity region	202	213	N/A	INTRINSIC
low complexity region	230	248	N/A	INTRINSIC
low complexity region	286	304	N/A	INTRINSIC
low complexity region	347	360	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144041
AA Change: P343S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000115220
Gene: ENSMUSG00000033763
AA Change: P343S

Domain	Start	End	E-Value	Type
Pfam:IMD	1	174	3.6e-72	PFAM
low complexity region	190	212	N/A	INTRINSIC
low complexity region	222	233	N/A	INTRINSIC
low complexity region	250	268	N/A	INTRINSIC
low complexity region	306	324	N/A	INTRINSIC
low complexity region	367	380	N/A	INTRINSIC
low complexity region	484	500	N/A	INTRINSIC
low complexity region	606	628	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149273

SMART Domains

Protein: ENSMUSP00000119495
Gene: ENSMUSG00000033763

Domain	Start	End	E-Value	Type
Pfam:IMD	1	126	2.5e-59	PFAM
low complexity region	142	183	N/A	INTRINSIC
low complexity region	206	217	N/A	INTRINSIC
low complexity region	239	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150680

SMART Domains

Protein: ENSMUSP00000114398
Gene: ENSMUSG00000031750

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:IL34	23	155	4.6e-64	PFAM
low complexity region	197	208	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154803

Meta Mutation Damage Score

0.0637

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,835,094 (GRCm39)	T679A	possibly damaging	Het
Ahr	T	C	12: 35,558,193 (GRCm39)	T276A	probably benign	Het
Akap9	A	T	5: 4,114,136 (GRCm39)	Q3138H	probably damaging	Het
Armt1	T	A	10: 4,382,689 (GRCm39)	F7I	probably benign	Het
B3galt2	A	G	1: 143,521,878 (GRCm39)	R5G	probably damaging	Het
Bod1l	T	C	5: 41,958,576 (GRCm39)	N2750S	probably benign	Het
Cadps2	T	A	6: 23,583,395 (GRCm39)	E365V	probably damaging	Het
Cd200r3	T	A	16: 44,778,080 (GRCm39)		probably null	Het
Cemip2	T	A	19: 21,795,335 (GRCm39)	S743T	probably benign	Het
Cst7	T	A	2: 150,417,806 (GRCm39)		probably benign	Het
Defb30	A	T	14: 63,287,212 (GRCm39)		probably benign	Het
Dido1	C	T	2: 180,301,644 (GRCm39)	G2087S	probably benign	Het
Dio2	A	G	12: 90,704,845 (GRCm39)	Y72H	probably benign	Het
Dnah11	C	T	12: 117,951,204 (GRCm39)	E3035K	probably damaging	Het
Dnajb13	T	C	7: 100,152,456 (GRCm39)	K287E	possibly damaging	Het
Dnajc11	G	A	4: 152,058,085 (GRCm39)	V244I	possibly damaging	Het
Ect2	C	T	3: 27,193,801 (GRCm39)	A226T	probably damaging	Het
Ercc8	G	A	13: 108,310,595 (GRCm39)		probably null	Het
Fam120b	T	A	17: 15,623,189 (GRCm39)	M389K	probably benign	Het
Fam151a	A	G	4: 106,605,128 (GRCm39)	M497V	probably benign	Het
Fam186b	C	A	15: 99,178,009 (GRCm39)	G439V	probably benign	Het
Fank1	A	G	7: 133,478,494 (GRCm39)	Y185C	probably damaging	Het
Gart	T	C	16: 91,427,490 (GRCm39)		probably benign	Het
Glb1l	T	C	1: 75,176,364 (GRCm39)	Y572C	probably damaging	Het
Gm11563	C	T	11: 99,549,263 (GRCm39)	A164T	unknown	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Gsdmc3	T	A	15: 63,731,542 (GRCm39)	D330V	probably damaging	Het
H2-DMa	C	T	17: 34,356,934 (GRCm39)	T144M	probably damaging	Het
Haus6	A	T	4: 86,501,751 (GRCm39)	F707I	possibly damaging	Het
Hmcn1	T	A	1: 150,469,767 (GRCm39)	T4971S	probably benign	Het
Ints6	A	T	14: 62,934,208 (GRCm39)	F766L	probably benign	Het
Kdm5d	T	A	Y: 927,330 (GRCm39)	M650K	probably damaging	Het
Kif21b	T	C	1: 136,087,166 (GRCm39)	F881S	possibly damaging	Het
Klrk1	C	A	6: 129,591,598 (GRCm39)	Q176H	possibly damaging	Het
Ky	T	C	9: 102,414,820 (GRCm39)	V244A	probably benign	Het
Mia2	T	A	12: 59,201,205 (GRCm39)	L191M	possibly damaging	Het
Miga2	T	A	2: 30,271,756 (GRCm39)		probably benign	Het
Nalcn	A	G	14: 123,536,553 (GRCm39)		probably benign	Het
Ncbp3	T	A	11: 72,940,671 (GRCm39)		probably benign	Het
Nprl3	G	A	11: 32,184,876 (GRCm39)	L378F	probably damaging	Het
Ntrk2	A	T	13: 58,994,635 (GRCm39)	M184L	probably benign	Het
Or11g1	G	T	14: 50,651,154 (GRCm39)	C51F	probably benign	Het
Or9e1	T	G	11: 58,732,269 (GRCm39)	C110G	probably damaging	Het
Osbpl9	T	C	4: 108,940,325 (GRCm39)	E287G	probably damaging	Het
Parva	T	C	7: 112,175,618 (GRCm39)	F250L	probably damaging	Het
Pcdhb11	C	T	18: 37,554,864 (GRCm39)	Q65*	probably null	Het
Phtf1	A	G	3: 103,901,081 (GRCm39)	T377A	probably damaging	Het
Pkp4	G	A	2: 59,152,987 (GRCm39)	V612I	possibly damaging	Het
Plscr2	C	A	9: 92,169,707 (GRCm39)	S52R	probably benign	Het
Pnisr	C	T	4: 21,874,092 (GRCm39)		probably benign	Het
Pole2	A	C	12: 69,256,653 (GRCm39)	S291A	probably damaging	Het
Ppp2r5d	A	G	17: 46,994,944 (GRCm39)	F586L	probably benign	Het
Prrx1	G	A	1: 163,085,385 (GRCm39)	R182C	probably damaging	Het
Ptprs	A	G	17: 56,736,103 (GRCm39)	I110T	possibly damaging	Het
Rasgrf2	G	A	13: 92,067,936 (GRCm39)		probably benign	Het
Resf1	A	T	6: 149,229,873 (GRCm39)	Q973L	probably damaging	Het
Riox2	T	C	16: 59,312,255 (GRCm39)	V464A	probably benign	Het
Robo2	A	G	16: 73,764,690 (GRCm39)	V646A	possibly damaging	Het
Ros1	T	A	10: 51,994,444 (GRCm39)	I1279F	probably damaging	Het
Siglec1	G	A	2: 130,916,188 (GRCm39)	T1254M	probably benign	Het
Snx7	T	C	3: 117,640,324 (GRCm39)	N62D	probably damaging	Het
Sp100	G	A	1: 85,587,588 (GRCm39)		probably null	Het
Stil	A	T	4: 114,864,356 (GRCm39)	I86L	possibly damaging	Het
Tbc1d16	T	A	11: 119,099,864 (GRCm39)	D170V	probably benign	Het
Trappc13	G	A	13: 104,297,589 (GRCm39)	T105M	probably damaging	Het
Trhr	T	A	15: 44,092,896 (GRCm39)	S378T	probably benign	Het
Ttc7b	T	C	12: 100,466,332 (GRCm39)		probably null	Het
Vegfc	A	T	8: 54,610,174 (GRCm39)	Y110F	probably benign	Het
Vmn1r184	C	A	7: 25,966,602 (GRCm39)	P116H	possibly damaging	Het
Vmn2r5	A	T	3: 64,411,235 (GRCm39)	C444*	probably null	Het
Zfp341	A	G	2: 154,476,193 (GRCm39)	E460G	possibly damaging	Het
Zfp819	T	A	7: 43,265,868 (GRCm39)	V41E	probably benign	Het

Other mutations in Mtss2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02124:Mtss2	APN	8	111,464,256 (GRCm39)	missense	probably damaging	1.00
R0685:Mtss2	UTSW	8	111,454,029 (GRCm39)	critical splice donor site	probably null
R2082:Mtss2	UTSW	8	111,452,889 (GRCm39)	critical splice donor site	probably null
R2149:Mtss2	UTSW	8	111,453,015 (GRCm39)	missense	possibly damaging	0.58
R2266:Mtss2	UTSW	8	111,455,362 (GRCm39)	missense	possibly damaging	0.80
R2267:Mtss2	UTSW	8	111,455,362 (GRCm39)	missense	possibly damaging	0.80
R2269:Mtss2	UTSW	8	111,455,362 (GRCm39)	missense	possibly damaging	0.80
R2378:Mtss2	UTSW	8	111,464,981 (GRCm39)	missense	probably damaging	1.00
R3756:Mtss2	UTSW	8	111,456,692 (GRCm39)	missense	probably damaging	1.00
R4005:Mtss2	UTSW	8	111,465,673 (GRCm39)	frame shift	probably null
R4552:Mtss2	UTSW	8	111,465,137 (GRCm39)	missense	probably damaging	1.00
R4553:Mtss2	UTSW	8	111,465,137 (GRCm39)	missense	probably damaging	1.00
R4849:Mtss2	UTSW	8	111,452,875 (GRCm39)	missense	possibly damaging	0.92
R5212:Mtss2	UTSW	8	111,455,850 (GRCm39)	missense	probably damaging	1.00
R6294:Mtss2	UTSW	8	111,453,960 (GRCm39)	missense	possibly damaging	0.89
R6336:Mtss2	UTSW	8	111,458,796 (GRCm39)	missense	probably damaging	1.00
R7090:Mtss2	UTSW	8	111,456,656 (GRCm39)	missense	probably damaging	1.00
R7580:Mtss2	UTSW	8	111,464,268 (GRCm39)	missense	possibly damaging	0.95
R7581:Mtss2	UTSW	8	111,452,845 (GRCm39)	missense	possibly damaging	0.92
R7810:Mtss2	UTSW	8	111,452,833 (GRCm39)	missense	probably damaging	0.99
R8497:Mtss2	UTSW	8	111,465,222 (GRCm39)	missense	possibly damaging	0.95
R9033:Mtss2	UTSW	8	111,465,651 (GRCm39)	missense	probably damaging	1.00
R9596:Mtss2	UTSW	8	111,458,689 (GRCm39)	missense
R9640:Mtss2	UTSW	8	111,464,575 (GRCm39)	missense	probably benign	0.00
R9796:Mtss2	UTSW	8	111,456,753 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTCACTCCAGGGTCAATGCCAG -3'
(R):5'- GCATCCCCATTCACAGAGTAGCAG -3'

Sequencing Primer
(F):5'- GACATGGAGAGTGAGGCTTT -3'
(R):5'- TTCACAGAGTAGCAGTCGTAGTC -3'

Posted On

2013-07-11