Mutagenetix > Incidental Mutations

Incidental Mutation 'R8501:Musk'

655314

Institutional Source

Beutler Lab

Gene Symbol

Musk

Ensembl Gene

ENSMUSG00000057280

Gene Name

muscle, skeletal, receptor tyrosine kinase

Synonyms

MDK4, Nsk1, Nsk2, Nsk3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8501 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58285960-58374303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 58367502 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 588 (K588N)

Ref Sequence

ENSEMBL: ENSMUSP00000095665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081919] [ENSMUST00000084578] [ENSMUST00000098057] [ENSMUST00000098059] [ENSMUST00000102893] [ENSMUST00000177951] [ENSMUST00000179951]

Predicted Effect

probably damaging
Transcript: ENSMUST00000081919
AA Change: K563N

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

SMART Domains

Protein: ENSMUSP00000080590
Gene: ENSMUSG00000057280
AA Change: K563N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGc2	40	106	1.16e-8	SMART
IGc2	133	197	1.79e-14	SMART
IGc2	224	289	4.67e-4	SMART
Pfam:Fz	317	448	1.1e-27	PFAM
transmembrane domain	495	517	N/A	INTRINSIC
low complexity region	518	529	N/A	INTRINSIC
low complexity region	558	567	N/A	INTRINSIC
TyrKc	574	855	2.96e-140	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000084578
AA Change: K563N

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000081625
Gene: ENSMUSG00000057280
AA Change: K563N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGc2	40	106	1.16e-8	SMART
IGc2	133	197	1.79e-14	SMART
IGc2	224	289	4.67e-4	SMART
Pfam:Fz	317	448	1.2e-28	PFAM
transmembrane domain	495	517	N/A	INTRINSIC
low complexity region	518	529	N/A	INTRINSIC
low complexity region	558	567	N/A	INTRINSIC
TyrKc	574	855	2.96e-140	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000098057
AA Change: K588N

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

SMART Domains

Protein: ENSMUSP00000095665
Gene: ENSMUSG00000057280
AA Change: K588N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGc2	40	106	1.16e-8	SMART
IGc2	133	197	1.79e-14	SMART
IGc2	234	299	4.67e-4	SMART
Pfam:Fz	342	467	1.4e-15	PFAM
transmembrane domain	520	542	N/A	INTRINSIC
low complexity region	543	554	N/A	INTRINSIC
low complexity region	583	592	N/A	INTRINSIC
TyrKc	599	880	2.96e-140	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000098059
AA Change: K565N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095667
Gene: ENSMUSG00000057280
AA Change: K565N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGc2	40	106	1.16e-8	SMART
IGc2	133	197	1.79e-14	SMART
IGc2	234	299	4.67e-4	SMART
low complexity region	303	318	N/A	INTRINSIC
Pfam:Fz	327	458	2.1e-28	PFAM
transmembrane domain	497	519	N/A	INTRINSIC
low complexity region	520	531	N/A	INTRINSIC
low complexity region	560	569	N/A	INTRINSIC
TyrKc	576	857	2.96e-140	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102893
AA Change: K555N

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

SMART Domains

Protein: ENSMUSP00000099957
Gene: ENSMUSG00000057280
AA Change: K555N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGc2	40	106	1.16e-8	SMART
IGc2	133	197	1.79e-14	SMART
IGc2	224	289	4.67e-4	SMART
Pfam:Fz	317	448	1.1e-27	PFAM
transmembrane domain	487	509	N/A	INTRINSIC
low complexity region	510	521	N/A	INTRINSIC
low complexity region	550	559	N/A	INTRINSIC
TyrKc	566	847	2.96e-140	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000177951
AA Change: K565N

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

SMART Domains

Protein: ENSMUSP00000136696
Gene: ENSMUSG00000057280
AA Change: K565N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGc2	40	106	1.16e-8	SMART
IGc2	133	197	1.79e-14	SMART
IGc2	234	299	4.67e-4	SMART
Pfam:Fz	327	458	1.1e-27	PFAM
transmembrane domain	497	519	N/A	INTRINSIC
low complexity region	520	531	N/A	INTRINSIC
low complexity region	560	569	N/A	INTRINSIC
TyrKc	576	857	2.96e-140	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179951
AA Change: K573N

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137453
Gene: ENSMUSG00000057280
AA Change: K573N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGc2	40	106	1.16e-8	SMART
IGc2	133	197	1.79e-14	SMART
IGc2	234	299	4.67e-4	SMART
low complexity region	303	318	N/A	INTRINSIC
Pfam:Fz	327	458	1.2e-27	PFAM
transmembrane domain	505	527	N/A	INTRINSIC
low complexity region	528	539	N/A	INTRINSIC
low complexity region	568	577	N/A	INTRINSIC
TyrKc	584	865	2.96e-140	SMART

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the protein tyrosine kinase family. The encoded protein is a type 1 receptor-like protein located in muscle membrane that is activated by the heparan sulfate proteoglycan agrin released by nerve cells. The encoded protein activates signaling cascades responsible for multiple aspects of motor neuron and muscle development, including organization of the postsynaptic membrane, synaptic gene transcription, patterning of skeletal muscle, anchoring of acetylcholinesterase, and guidance of motor axons. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation lack neuromuscular synapses and spontaneous movement, and die at birth of respiratory failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
5031439G07Rik	C	T	15: 84,960,523	V98M	probably damaging	Het
Agbl2	G	A	2: 90,797,564	G238R	probably damaging	Het
Atg2a	T	C	19: 6,254,390	S1146P	probably damaging	Het
Atg3	C	A	16: 45,182,931	D207E	probably damaging	Het
Atp8b3	A	G	10: 80,520,146	V1244A	probably benign	Het
Cacna1i	T	C	15: 80,382,046		probably null	Het
Ccdc171	G	T	4: 83,663,658	E675*	probably null	Het
Cep68	A	T	11: 20,239,132	S627T	unknown	Het
Chrnd	T	C	1: 87,192,616	W165R	probably damaging	Het
Col6a2	G	T	10: 76,603,557	A791D	probably damaging	Het
Dlg2	C	A	7: 92,375,722	S598R	probably damaging	Het
Elfn2	G	T	15: 78,674,300	Q16K	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gpr165	C	A	X: 96,714,017	D7E	probably benign	Het
Grm8	A	T	6: 27,618,541	M434K	probably damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Igf2	G	C	7: 142,654,042	P106R	probably damaging	Het
Klf7	T	C	1: 64,079,163	S92G	probably benign	Het
Mme	T	A	3: 63,326,735	M73K	probably damaging	Het
Naa30	C	A	14: 49,172,896	H94N	possibly damaging	Het
Naip6	C	T	13: 100,300,276	A580T	possibly damaging	Het
Nfya	A	G	17: 48,398,989	L52P	unknown	Het
Olfr126	A	G	17: 37,850,865	Y91C	probably damaging	Het
Olfr346	A	G	2: 36,688,797	N265S	probably benign	Het
Olfr65	T	A	7: 103,906,611	H54Q		Het
Otogl	A	T	10: 107,790,560	M1481K	probably benign	Het
P4ha3	A	G	7: 100,313,355	D440G	probably damaging	Het
Pcdhb13	A	T	18: 37,444,440	T624S	probably damaging	Het
Piezo2	A	G	18: 63,045,540	Y1769H	probably damaging	Het
Plekha6	T	A	1: 133,287,837	V913E	probably benign	Het
Rapgefl1	A	G	11: 98,842,227	E211G	possibly damaging	Het
Rcc2	T	C	4: 140,715,926	L305P	probably damaging	Het
Rgs3	G	T	4: 62,602,956	V47F	possibly damaging	Het
Scly	A	G	1: 91,319,076	S370G	probably damaging	Het
Setmar	T	A	6: 108,075,861	D105E	probably benign	Het
Slc9a9	A	G	9: 94,855,739	Y233C	probably damaging	Het
Sp140	A	T	1: 85,641,740	N357I	probably damaging	Het
Trim30c	G	C	7: 104,387,470	T227R	probably benign	Het
Unc79	G	A	12: 103,092,638	V1014I	probably damaging	Het
Vmn1r151	A	T	7: 22,499,609	F24I	probably damaging	Het
Vmn2r78	T	C	7: 86,920,886	V204A	probably damaging	Het
Vps13a	T	C	19: 16,682,120	D1681G	probably benign	Het
Vwa2	T	C	19: 56,908,982	V573A	probably benign	Het
Wfdc2	A	G	2: 164,563,359	D44G	probably damaging	Het
Zfp40	T	A	17: 23,178,298	N75I	probably damaging	Het

Other mutations in Musk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Musk	APN	4	58367539	missense	probably damaging	1.00
IGL01727:Musk	APN	4	58303887	missense	probably benign	0.37
IGL01981:Musk	APN	4	58296629	missense	probably damaging	1.00
IGL02064:Musk	APN	4	58286128	missense	possibly damaging	0.89
IGL02326:Musk	APN	4	58354113	missense	probably benign	0.02
IGL02475:Musk	APN	4	58353936	critical splice acceptor site	probably benign
IGL02585:Musk	APN	4	58347849	missense	probably benign
IGL02719:Musk	APN	4	58356496	missense	probably benign
IGL02797:Musk	APN	4	58366921	missense	probably benign	0.00
IGL02869:Musk	APN	4	58354078	missense	probably benign	0.05
IGL02940:Musk	APN	4	58373364	missense	probably damaging	1.00
IGL03167:Musk	APN	4	58366821	missense	possibly damaging	0.81
IGL03230:Musk	APN	4	58296710	missense	probably damaging	1.00
BB002:Musk	UTSW	4	58367513	missense	probably damaging	1.00
BB012:Musk	UTSW	4	58367513	missense	probably damaging	1.00
R0384:Musk	UTSW	4	58373711	makesense	probably null
R1014:Musk	UTSW	4	58354156	missense	possibly damaging	0.88
R1462:Musk	UTSW	4	58286204	splice site	probably benign
R1493:Musk	UTSW	4	58354003	missense	probably benign	0.19
R1739:Musk	UTSW	4	58293563	missense	probably damaging	1.00
R1883:Musk	UTSW	4	58373189	missense	probably benign	0.18
R2230:Musk	UTSW	4	58333672	missense	possibly damaging	0.79
R2914:Musk	UTSW	4	58366938	missense	probably damaging	0.99
R3508:Musk	UTSW	4	58327347	missense	probably damaging	0.98
R4225:Musk	UTSW	4	58373240	missense	probably damaging	0.99
R4601:Musk	UTSW	4	58301625	missense	probably damaging	0.99
R4771:Musk	UTSW	4	58301706	missense	probably benign	0.16
R4793:Musk	UTSW	4	58373400	missense	probably damaging	1.00
R4845:Musk	UTSW	4	58296679	missense	probably damaging	1.00
R4919:Musk	UTSW	4	58366899	missense	probably damaging	1.00
R4954:Musk	UTSW	4	58344222	missense	probably damaging	0.96
R5596:Musk	UTSW	4	58373036	missense	probably damaging	1.00
R5715:Musk	UTSW	4	58333663	missense	probably damaging	1.00
R5894:Musk	UTSW	4	58373583	missense	probably damaging	1.00
R5934:Musk	UTSW	4	58373613	missense	probably damaging	1.00
R6230:Musk	UTSW	4	58367576	missense	probably damaging	1.00
R6335:Musk	UTSW	4	58366811	missense	probably benign
R6358:Musk	UTSW	4	58373171	missense	possibly damaging	0.72
R6395:Musk	UTSW	4	58286169	missense	probably benign
R6652:Musk	UTSW	4	58368977	missense	probably damaging	1.00
R6764:Musk	UTSW	4	58354027	missense	probably damaging	1.00
R7233:Musk	UTSW	4	58373307	missense	possibly damaging	0.83
R7238:Musk	UTSW	4	58344312	missense	probably benign	0.01
R7271:Musk	UTSW	4	58373409	missense	probably damaging	1.00
R7511:Musk	UTSW	4	58333672	missense	probably benign	0.10
R7925:Musk	UTSW	4	58367513	missense	probably damaging	1.00
R8085:Musk	UTSW	4	58373110	missense	probably benign	0.00
R8243:Musk	UTSW	4	58293600	missense	probably benign
R8249:Musk	UTSW	4	58368926	missense	probably damaging	1.00
X0020:Musk	UTSW	4	58368996	missense	probably damaging	1.00
X0066:Musk	UTSW	4	58327356	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGCCTCTAGCCATCTTAGCTC -3'
(R):5'- ATGCTACTTTCTAGTGGAAGGG -3'

Sequencing Primer
(F):5'- AGCCATCTTAGCTCTAAGTATTTCTG -3'
(R):5'- AGAACACTGCTTTTCCAGGG -3'

Posted On

2020-10-20