Mutagenetix > Incidental Mutation

Incidental Mutation 'R9321:Myom2'

706208

Institutional Source

Beutler Lab

Gene Symbol

Myom2

Ensembl Gene

ENSMUSG00000031461

Gene Name

myomesin 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R9321 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15107653-15183410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15172464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1188 (P1188S)

Ref Sequence

ENSEMBL: ENSMUSP00000033842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033842]

AlphaFold

Q14BI5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033842
AA Change: P1188S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: P1188S

Domain	Start	End	E-Value	Type
low complexity region	34	63	N/A	INTRINSIC
low complexity region	79	87	N/A	INTRINSIC
coiled coil region	97	129	N/A	INTRINSIC
IG	160	247	7.7e-5	SMART
IG	284	373	8.01e-3	SMART
FN3	383	466	1.5e-14	SMART
FN3	511	594	1.79e-12	SMART
FN3	612	693	1.95e-13	SMART
FN3	711	794	8.69e-11	SMART
FN3	813	896	1.86e-10	SMART
IG_like	913	999	1.58e2	SMART
Blast:IG_like	1021	1106	1e-44	BLAST
IG_like	1135	1215	2.27e1	SMART
Blast:IG_like	1227	1321	9e-51	BLAST
IGc2	1357	1425	4.96e-8	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,460,475 (GRCm39)	S4162G	probably benign	Het
Acvr2b	T	C	9: 119,257,351 (GRCm39)	I152T	probably benign	Het
Adam15	T	A	3: 89,254,794 (GRCm39)		probably null	Het
Adam34	C	T	8: 44,105,243 (GRCm39)	G134D	probably damaging	Het
Aifm2	C	T	10: 61,571,410 (GRCm39)	Q315*	probably null	Het
Akap10	A	G	11: 61,791,235 (GRCm39)	F408S	probably damaging	Het
Ap3b2	T	C	7: 81,114,252 (GRCm39)		probably null	Het
Btbd2	A	C	10: 80,483,675 (GRCm39)	V181G	probably damaging	Het
Carmil3	G	T	14: 55,741,425 (GRCm39)	G1070V		Het
Ceacam2	G	T	7: 25,230,089 (GRCm39)	D172E	possibly damaging	Het
Crtc3	G	A	7: 80,259,650 (GRCm39)	A203V	probably benign	Het
Dclre1a	A	G	19: 56,531,100 (GRCm39)	S749P	probably damaging	Het
Dnah2	C	T	11: 69,338,939 (GRCm39)		probably null	Het
Eif2ak4	G	A	2: 118,292,798 (GRCm39)	V1341M	possibly damaging	Het
Enpp5	T	C	17: 44,393,689 (GRCm39)	V295A	possibly damaging	Het
Gm1110	T	A	9: 26,831,891 (GRCm39)	M87L	probably benign	Het
Gm57858	A	T	3: 36,073,139 (GRCm39)	V381E	probably damaging	Het
H2-Ab1	T	C	17: 34,486,969 (GRCm39)	L241P	probably damaging	Het
Hmx2	A	G	7: 131,157,320 (GRCm39)	T145A	probably benign	Het
Irag1	A	G	7: 110,524,534 (GRCm39)	S138P	probably benign	Het
Itpripl1	T	C	2: 126,984,000 (GRCm39)	S41G	probably benign	Het
Kcnb2	G	A	1: 15,779,793 (GRCm39)	D222N	possibly damaging	Het
Ldb3	C	A	14: 34,266,099 (GRCm39)	G499*	probably null	Het
Lig1	T	C	7: 13,034,935 (GRCm39)	F577S	probably damaging	Het
Lnx1	T	C	5: 74,780,991 (GRCm39)	I177V	probably damaging	Het
Mark4	G	T	7: 19,170,901 (GRCm39)	T323K	probably benign	Het
Mroh5	A	G	15: 73,661,113 (GRCm39)	V301A	probably benign	Het
Mtx3	T	A	13: 92,984,097 (GRCm39)	W125R	probably damaging	Het
Myo18a	G	A	11: 77,733,370 (GRCm39)	G1404R	probably damaging	Het
Nars1	C	T	18: 64,637,950 (GRCm39)	E335K	probably damaging	Het
Nfya	A	T	17: 48,707,494 (GRCm39)	V16E	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Nme5	T	G	18: 34,704,597 (GRCm39)	I83L	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nptx1	A	G	11: 119,438,378 (GRCm39)	L13P	unknown	Het
Or11g27	G	A	14: 50,771,471 (GRCm39)	V201I	probably benign	Het
Or13c25	G	T	4: 52,911,314 (GRCm39)	T160N	probably damaging	Het
Or13m2-ps1	T	A	6: 42,777,792 (GRCm39)	V39D	possibly damaging	Het
Or4k44	A	G	2: 111,368,434 (GRCm39)	S67P	probably damaging	Het
Or5j3	A	T	2: 86,128,297 (GRCm39)	I46F	probably benign	Het
Or6d13	T	C	6: 116,518,370 (GRCm39)	Y319H	probably benign	Het
Pdzd2	T	C	15: 12,386,023 (GRCm39)	T916A	probably benign	Het
Plekha6	A	G	1: 133,209,549 (GRCm39)	N615S	probably damaging	Het
Prorp	A	G	12: 55,351,434 (GRCm39)	I248V	possibly damaging	Het
Rad52	T	C	6: 119,889,969 (GRCm39)	Y32H	probably damaging	Het
Slc22a16	T	A	10: 40,450,047 (GRCm39)	I161N	probably damaging	Het
Slx4	A	G	16: 3,804,654 (GRCm39)	M720T	probably benign	Het
Spem1	T	C	11: 69,712,661 (GRCm39)	H58R	probably benign	Het
Spg7	C	A	8: 123,803,688 (GRCm39)	D239E	probably benign	Het
Tas2r123	A	T	6: 132,825,095 (GRCm39)	M331L	probably benign	Het
Tcaf1	T	C	6: 42,656,290 (GRCm39)	T229A	probably benign	Het
Tdrd1	T	C	19: 56,848,767 (GRCm39)	L939P	probably damaging	Het
Timd2	T	C	11: 46,577,916 (GRCm39)	T72A	probably benign	Het
Tmem179	G	T	12: 112,477,390 (GRCm39)	N31K	probably damaging	Het
Tpd52l1	T	C	10: 31,214,189 (GRCm39)	S165G		Het
Tubgcp6	T	C	15: 88,992,186 (GRCm39)	T600A	probably damaging	Het
Txlna	T	A	4: 129,528,246 (GRCm39)	E230D	probably damaging	Het
Ush2a	A	T	1: 188,089,148 (GRCm39)	I368F	probably damaging	Het
Vmn1r76	A	T	7: 11,665,094 (GRCm39)	M40K	possibly damaging	Het
Zfp592	C	T	7: 80,691,226 (GRCm39)	S1135L	possibly damaging	Het
Zfp606	A	G	7: 12,226,610 (GRCm39)	T244A	possibly damaging	Het

Other mutations in Myom2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Myom2	APN	8	15,119,490 (GRCm39)	missense	probably damaging	1.00
IGL00426:Myom2	APN	8	15,119,502 (GRCm39)	missense	probably benign	0.00
IGL00503:Myom2	APN	8	15,164,289 (GRCm39)	splice site	probably null
IGL01515:Myom2	APN	8	15,172,655 (GRCm39)	missense	probably benign	0.15
IGL01649:Myom2	APN	8	15,163,755 (GRCm39)	missense	probably benign	0.24
IGL01658:Myom2	APN	8	15,127,880 (GRCm39)	missense	probably damaging	1.00
IGL01786:Myom2	APN	8	15,156,330 (GRCm39)	missense	probably damaging	0.99
IGL01924:Myom2	APN	8	15,119,685 (GRCm39)	missense	probably benign	0.37
IGL01929:Myom2	APN	8	15,167,698 (GRCm39)	missense	probably damaging	0.96
IGL02016:Myom2	APN	8	15,175,195 (GRCm39)	missense	probably benign	0.01
IGL02511:Myom2	APN	8	15,115,743 (GRCm39)	missense	probably benign
IGL02558:Myom2	APN	8	15,164,237 (GRCm39)	missense	probably benign	0.31
IGL02944:Myom2	APN	8	15,154,065 (GRCm39)	critical splice acceptor site	probably null
IGL03052:Myom2	APN	8	15,173,442 (GRCm39)	splice site	probably benign
IGL03195:Myom2	APN	8	15,161,844 (GRCm39)	nonsense	probably null
IGL03288:Myom2	APN	8	15,172,679 (GRCm39)	missense	probably damaging	0.99
IGL03402:Myom2	APN	8	15,115,731 (GRCm39)	missense	probably benign
yomama	UTSW	8	15,182,895 (GRCm39)	missense	probably benign	0.10
yoyoma	UTSW	8	15,182,667 (GRCm39)	missense	probably damaging	0.99
R0069:Myom2	UTSW	8	15,167,624 (GRCm39)	missense	probably benign
R0116:Myom2	UTSW	8	15,167,633 (GRCm39)	missense	probably damaging	1.00
R0131:Myom2	UTSW	8	15,133,329 (GRCm39)	missense	probably damaging	0.98
R0373:Myom2	UTSW	8	15,148,419 (GRCm39)	missense	possibly damaging	0.91
R0463:Myom2	UTSW	8	15,154,123 (GRCm39)	missense	probably benign	0.09
R0544:Myom2	UTSW	8	15,119,796 (GRCm39)	missense	probably damaging	1.00
R0629:Myom2	UTSW	8	15,119,783 (GRCm39)	missense	probably damaging	0.98
R0634:Myom2	UTSW	8	15,169,216 (GRCm39)	splice site	probably benign
R0645:Myom2	UTSW	8	15,167,698 (GRCm39)	missense	probably damaging	0.96
R0730:Myom2	UTSW	8	15,149,326 (GRCm39)	missense	probably benign	0.00
R0744:Myom2	UTSW	8	15,182,924 (GRCm39)	nonsense	probably null
R0836:Myom2	UTSW	8	15,182,924 (GRCm39)	nonsense	probably null
R1033:Myom2	UTSW	8	15,158,934 (GRCm39)	missense	probably benign	0.04
R1103:Myom2	UTSW	8	15,160,827 (GRCm39)	missense	probably benign	0.22
R1110:Myom2	UTSW	8	15,172,413 (GRCm39)	missense	probably benign	0.44
R1208:Myom2	UTSW	8	15,134,631 (GRCm39)	missense	probably damaging	1.00
R1208:Myom2	UTSW	8	15,134,631 (GRCm39)	missense	probably damaging	1.00
R1353:Myom2	UTSW	8	15,156,424 (GRCm39)	missense	probably damaging	1.00
R1530:Myom2	UTSW	8	15,172,384 (GRCm39)	missense	probably damaging	1.00
R1544:Myom2	UTSW	8	15,154,059 (GRCm39)	splice site	probably benign
R1576:Myom2	UTSW	8	15,134,556 (GRCm39)	missense	probably damaging	1.00
R1758:Myom2	UTSW	8	15,115,795 (GRCm39)	missense	probably benign	0.00
R1884:Myom2	UTSW	8	15,164,278 (GRCm39)	missense	probably benign	0.01
R1908:Myom2	UTSW	8	15,131,023 (GRCm39)	missense	probably damaging	1.00
R1962:Myom2	UTSW	8	15,182,599 (GRCm39)	splice site	probably null
R1977:Myom2	UTSW	8	15,135,263 (GRCm39)	missense	possibly damaging	0.47
R2018:Myom2	UTSW	8	15,181,151 (GRCm39)	missense	probably damaging	1.00
R2049:Myom2	UTSW	8	15,156,379 (GRCm39)	missense	probably damaging	0.97
R2155:Myom2	UTSW	8	15,134,555 (GRCm39)	missense	probably damaging	0.98
R2314:Myom2	UTSW	8	15,113,927 (GRCm39)	missense	probably damaging	0.99
R2350:Myom2	UTSW	8	15,158,835 (GRCm39)	missense	probably benign	0.09
R2358:Myom2	UTSW	8	15,162,018 (GRCm39)	missense	possibly damaging	0.68
R2904:Myom2	UTSW	8	15,148,348 (GRCm39)	missense	probably benign	0.00
R3418:Myom2	UTSW	8	15,135,294 (GRCm39)	missense	probably benign	0.01
R3606:Myom2	UTSW	8	15,119,775 (GRCm39)	missense	probably damaging	1.00
R3607:Myom2	UTSW	8	15,119,775 (GRCm39)	missense	probably damaging	1.00
R3735:Myom2	UTSW	8	15,119,676 (GRCm39)	missense	probably benign	0.01
R3756:Myom2	UTSW	8	15,152,650 (GRCm39)	missense	probably benign	0.11
R3902:Myom2	UTSW	8	15,154,165 (GRCm39)	missense	probably benign
R3951:Myom2	UTSW	8	15,134,556 (GRCm39)	missense	probably benign	0.35
R4240:Myom2	UTSW	8	15,182,895 (GRCm39)	missense	probably benign	0.10
R4361:Myom2	UTSW	8	15,162,018 (GRCm39)	missense	possibly damaging	0.68
R4581:Myom2	UTSW	8	15,156,459 (GRCm39)	missense	probably benign	0.02
R4736:Myom2	UTSW	8	15,131,271 (GRCm39)	missense	probably damaging	0.99
R5010:Myom2	UTSW	8	15,133,310 (GRCm39)	missense	probably damaging	0.98
R5108:Myom2	UTSW	8	15,182,667 (GRCm39)	missense	probably damaging	0.99
R5370:Myom2	UTSW	8	15,149,343 (GRCm39)	missense	probably benign	0.10
R5427:Myom2	UTSW	8	15,163,764 (GRCm39)	missense	probably benign	0.03
R5498:Myom2	UTSW	8	15,179,142 (GRCm39)	missense	probably benign	0.01
R5504:Myom2	UTSW	8	15,178,879 (GRCm39)	missense	probably damaging	1.00
R5567:Myom2	UTSW	8	15,152,546 (GRCm39)	missense	probably benign	0.01
R5743:Myom2	UTSW	8	15,130,914 (GRCm39)	missense	possibly damaging	0.82
R5745:Myom2	UTSW	8	15,172,705 (GRCm39)	missense	probably benign	0.01
R5844:Myom2	UTSW	8	15,181,182 (GRCm39)	critical splice donor site	probably null
R5854:Myom2	UTSW	8	15,158,478 (GRCm39)	missense	probably benign
R6141:Myom2	UTSW	8	15,113,903 (GRCm39)	missense	probably damaging	1.00
R6209:Myom2	UTSW	8	15,154,173 (GRCm39)	missense	possibly damaging	0.76
R6248:Myom2	UTSW	8	15,148,472 (GRCm39)	splice site	probably null
R6378:Myom2	UTSW	8	15,149,356 (GRCm39)	missense	probably benign	0.11
R6829:Myom2	UTSW	8	15,172,643 (GRCm39)	nonsense	probably null
R6913:Myom2	UTSW	8	15,115,710 (GRCm39)	missense	probably benign
R6957:Myom2	UTSW	8	15,167,741 (GRCm39)	missense	probably null	0.42
R6958:Myom2	UTSW	8	15,167,741 (GRCm39)	missense	probably null	0.42
R6960:Myom2	UTSW	8	15,167,741 (GRCm39)	missense	probably null	0.42
R6961:Myom2	UTSW	8	15,167,741 (GRCm39)	missense	probably null	0.42
R6962:Myom2	UTSW	8	15,167,741 (GRCm39)	missense	probably null	0.42
R6999:Myom2	UTSW	8	15,134,531 (GRCm39)	missense	probably benign	0.22
R7148:Myom2	UTSW	8	15,134,577 (GRCm39)	missense	possibly damaging	0.72
R7210:Myom2	UTSW	8	15,154,114 (GRCm39)	missense	probably damaging	1.00
R7298:Myom2	UTSW	8	15,148,411 (GRCm39)	missense	probably damaging	1.00
R7463:Myom2	UTSW	8	15,167,679 (GRCm39)	missense	probably null	0.94
R7535:Myom2	UTSW	8	15,167,679 (GRCm39)	missense	probably damaging	1.00
R7573:Myom2	UTSW	8	15,172,450 (GRCm39)	missense	probably damaging	1.00
R7590:Myom2	UTSW	8	15,167,679 (GRCm39)	missense	probably damaging	1.00
R7690:Myom2	UTSW	8	15,161,717 (GRCm39)	critical splice acceptor site	probably null
R7794:Myom2	UTSW	8	15,133,259 (GRCm39)	missense	probably damaging	1.00
R7822:Myom2	UTSW	8	15,158,454 (GRCm39)	missense	probably benign
R7948:Myom2	UTSW	8	15,135,306 (GRCm39)	missense	probably benign	0.00
R8094:Myom2	UTSW	8	15,119,418 (GRCm39)	missense	possibly damaging	0.94
R8268:Myom2	UTSW	8	15,179,157 (GRCm39)	missense	probably damaging	1.00
R8292:Myom2	UTSW	8	15,182,888 (GRCm39)	missense	probably benign	0.01
R8514:Myom2	UTSW	8	15,175,153 (GRCm39)	missense	possibly damaging	0.65
R8539:Myom2	UTSW	8	15,164,254 (GRCm39)	missense	probably benign	0.01
R8790:Myom2	UTSW	8	15,169,242 (GRCm39)	missense	probably damaging	1.00
R8824:Myom2	UTSW	8	15,164,169 (GRCm39)	missense	possibly damaging	0.82
R8895:Myom2	UTSW	8	15,152,589 (GRCm39)	nonsense	probably null
R9024:Myom2	UTSW	8	15,113,936 (GRCm39)	missense	probably damaging	1.00
R9129:Myom2	UTSW	8	15,154,068 (GRCm39)	missense	probably damaging	1.00
R9224:Myom2	UTSW	8	15,178,804 (GRCm39)	missense	possibly damaging	0.89
R9237:Myom2	UTSW	8	15,152,591 (GRCm39)	missense	possibly damaging	0.85
R9341:Myom2	UTSW	8	15,134,633 (GRCm39)	missense	probably damaging	0.97
R9343:Myom2	UTSW	8	15,134,633 (GRCm39)	missense	probably damaging	0.97
R9375:Myom2	UTSW	8	15,149,210 (GRCm39)	missense	probably damaging	1.00
R9455:Myom2	UTSW	8	15,156,293 (GRCm39)	missense	probably benign	0.31
R9563:Myom2	UTSW	8	15,158,399 (GRCm39)	nonsense	probably null
R9565:Myom2	UTSW	8	15,158,399 (GRCm39)	nonsense	probably null
RF001:Myom2	UTSW	8	15,131,418 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- AGGTCTCTCCATAAGCACCC -3'
(R):5'- CACCATGGTCCTTCTTAGACAAC -3'

Sequencing Primer
(F):5'- GTTCACTAACCCTGAAGGATTTG -3'
(R):5'- GACAACTAGGAATAAAACACATCCC -3'

Posted On

2022-04-18