Incidental Mutation 'BB002:Musk'
ID 642150
Institutional Source Beutler Lab
Gene Symbol Musk
Ensembl Gene ENSMUSG00000057280
Gene Name muscle, skeletal, receptor tyrosine kinase
Synonyms Nsk1, MDK4, Nsk2, Nsk3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # BB002
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 58285960-58374303 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58367513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 592 (L592Q)
Ref Sequence ENSEMBL: ENSMUSP00000095665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081919] [ENSMUST00000084578] [ENSMUST00000098057] [ENSMUST00000098059] [ENSMUST00000102893] [ENSMUST00000177951] [ENSMUST00000179951]
AlphaFold Q61006
Predicted Effect probably damaging
Transcript: ENSMUST00000081919
AA Change: L567Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080590
Gene: ENSMUSG00000057280
AA Change: L567Q

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000084578
AA Change: L567Q

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000081625
Gene: ENSMUSG00000057280
AA Change: L567Q

DomainStartEndE-ValueType
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: L592Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095665
Gene: ENSMUSG00000057280
AA Change: L592Q

DomainStartEndE-ValueType
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: L569Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095667
Gene: ENSMUSG00000057280
AA Change: L569Q

DomainStartEndE-ValueType
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: L559Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099957
Gene: ENSMUSG00000057280
AA Change: L559Q

DomainStartEndE-ValueType
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: L569Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136696
Gene: ENSMUSG00000057280
AA Change: L569Q

DomainStartEndE-ValueType
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: L577Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137453
Gene: ENSMUSG00000057280
AA Change: L577Q

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.6086 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C T 7: 40,643,506 (GRCm39) Q392* probably null Het
4933427D14Rik A C 11: 72,071,327 (GRCm39) L473V probably benign Het
A930002H24Rik A T 17: 64,170,392 (GRCm39) V132E unknown Het
Abcc2 A G 19: 43,795,551 (GRCm39) I436V probably benign Het
Ahr G A 12: 35,565,067 (GRCm39) Q103* probably null Het
Asb15 T A 6: 24,562,723 (GRCm39) H228Q probably benign Het
Asphd1 T A 7: 126,547,628 (GRCm39) Y225F probably damaging Het
Atp2c1 A G 9: 105,319,969 (GRCm39) M468T possibly damaging Het
Brca1 A G 11: 101,398,972 (GRCm39) I1540T probably benign Het
Ccn5 G C 2: 163,670,961 (GRCm39) R156T possibly damaging Het
Cdh20 A T 1: 104,912,473 (GRCm39) I576F probably damaging Het
Chst11 T A 10: 83,026,788 (GRCm39) S72T probably damaging Het
Cldn17 T G 16: 88,303,533 (GRCm39) K65N probably damaging Het
Cldn22 T C 8: 48,278,222 (GRCm39) I220T probably benign Het
Coasy T G 11: 100,974,522 (GRCm39) D229E probably benign Het
Colec10 T C 15: 54,325,767 (GRCm39) V199A probably damaging Het
Cpn2 G T 16: 30,079,619 (GRCm39) D27E probably damaging Het
F5 T A 1: 164,003,935 (GRCm39) probably null Het
Fat3 C T 9: 15,942,656 (GRCm39) V1239I possibly damaging Het
Fbxl16 A G 17: 26,035,880 (GRCm39) N159S probably benign Het
Fhad1 A G 4: 141,681,498 (GRCm39) I514T probably damaging Het
Fras1 A G 5: 96,929,443 (GRCm39) K3949R probably damaging Het
Gm8126 A G 14: 43,119,023 (GRCm39) N164S probably damaging Het
Grm3 T A 5: 9,639,880 (GRCm39) E55V probably benign Het
Itgbl1 G A 14: 124,210,735 (GRCm39) D478N possibly damaging Het
Kcnt2 T A 1: 140,282,247 (GRCm39) Y77* probably null Het
Kdm4c T C 4: 74,323,058 (GRCm39) S997P probably damaging Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Lrrc28 T C 7: 67,268,857 (GRCm39) Y71C probably damaging Het
Lrrc45 T A 11: 120,606,706 (GRCm39) W203R probably benign Het
Lrrc66 A T 5: 73,765,835 (GRCm39) C403S possibly damaging Het
Ly6g6e A T 17: 35,296,894 (GRCm39) E45V probably damaging Het
Mgam C T 6: 40,735,985 (GRCm39) T1574I probably damaging Het
Msrb2 A T 2: 19,388,091 (GRCm39) M80L probably benign Het
Nlrp4a C A 7: 26,150,011 (GRCm39) N539K probably benign Het
Obscn C G 11: 59,003,381 (GRCm39) E1306Q probably benign Het
Opalin T A 19: 41,052,242 (GRCm39) *144C probably null Het
Or1e28-ps1 A G 11: 73,615,362 (GRCm39) S163P unknown Het
Or1l8 A G 2: 36,817,371 (GRCm39) F252L possibly damaging Het
Or4f4-ps1 A G 2: 111,330,166 (GRCm39) S190G probably damaging Het
Or9g4 T C 2: 85,504,907 (GRCm39) E196G Het
Pgam2 T A 11: 5,753,007 (GRCm39) H196L possibly damaging Het
Prrc2b A G 2: 32,094,127 (GRCm39) E503G probably damaging Het
Prss45 T C 9: 110,670,103 (GRCm39) L304P unknown Het
Rbm20 T A 19: 53,801,753 (GRCm39) V87D probably damaging Het
Rskr T C 11: 78,182,449 (GRCm39) L86P probably damaging Het
Serpinb8 T C 1: 107,526,715 (GRCm39) L85S probably benign Het
Sh2b2 A T 5: 136,253,115 (GRCm39) H352Q probably benign Het
Slc6a17 T C 3: 107,403,056 (GRCm39) I124V probably damaging Het
Smim10l1 G A 6: 133,082,545 (GRCm39) V31M probably damaging Het
Snx10 T C 6: 51,557,301 (GRCm39) S78P probably benign Het
Stard10 T C 7: 100,991,838 (GRCm39) V187A probably damaging Het
Svil C A 18: 5,118,357 (GRCm39) D2146E probably benign Het
Tsc22d4 A G 5: 137,749,627 (GRCm39) D301G probably null Het
Ube3c T A 5: 29,851,429 (GRCm39) I752N probably damaging Het
Wwc1 T C 11: 35,734,990 (GRCm39) M962V probably benign Het
Other mutations in Musk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01406:Musk APN 4 58,367,539 (GRCm39) missense probably damaging 1.00
IGL01727:Musk APN 4 58,303,887 (GRCm39) missense probably benign 0.37
IGL01981:Musk APN 4 58,296,629 (GRCm39) missense probably damaging 1.00
IGL02064:Musk APN 4 58,286,128 (GRCm39) missense possibly damaging 0.89
IGL02326:Musk APN 4 58,354,113 (GRCm39) missense probably benign 0.02
IGL02475:Musk APN 4 58,353,936 (GRCm39) critical splice acceptor site probably benign
IGL02585:Musk APN 4 58,347,849 (GRCm39) missense probably benign
IGL02719:Musk APN 4 58,356,496 (GRCm39) missense probably benign
IGL02797:Musk APN 4 58,366,921 (GRCm39) missense probably benign 0.00
IGL02869:Musk APN 4 58,354,078 (GRCm39) missense probably benign 0.05
IGL02940:Musk APN 4 58,373,364 (GRCm39) missense probably damaging 1.00
IGL03167:Musk APN 4 58,366,821 (GRCm39) missense possibly damaging 0.81
IGL03230:Musk APN 4 58,296,710 (GRCm39) missense probably damaging 1.00
BB012:Musk UTSW 4 58,367,513 (GRCm39) missense probably damaging 1.00
R0384:Musk UTSW 4 58,373,711 (GRCm39) makesense probably null
R1014:Musk UTSW 4 58,354,156 (GRCm39) missense possibly damaging 0.88
R1462:Musk UTSW 4 58,286,204 (GRCm39) splice site probably benign
R1493:Musk UTSW 4 58,354,003 (GRCm39) missense probably benign 0.19
R1739:Musk UTSW 4 58,293,563 (GRCm39) missense probably damaging 1.00
R1883:Musk UTSW 4 58,373,189 (GRCm39) missense probably benign 0.18
R2230:Musk UTSW 4 58,333,672 (GRCm39) missense possibly damaging 0.79
R2914:Musk UTSW 4 58,366,938 (GRCm39) missense probably damaging 0.99
R3508:Musk UTSW 4 58,327,347 (GRCm39) missense probably damaging 0.98
R4225:Musk UTSW 4 58,373,240 (GRCm39) missense probably damaging 0.99
R4601:Musk UTSW 4 58,301,625 (GRCm39) missense probably damaging 0.99
R4771:Musk UTSW 4 58,301,706 (GRCm39) missense probably benign 0.16
R4793:Musk UTSW 4 58,373,400 (GRCm39) missense probably damaging 1.00
R4845:Musk UTSW 4 58,296,679 (GRCm39) missense probably damaging 1.00
R4919:Musk UTSW 4 58,366,899 (GRCm39) missense probably damaging 1.00
R4954:Musk UTSW 4 58,344,222 (GRCm39) missense probably damaging 0.96
R5596:Musk UTSW 4 58,373,036 (GRCm39) missense probably damaging 1.00
R5715:Musk UTSW 4 58,333,663 (GRCm39) missense probably damaging 1.00
R5894:Musk UTSW 4 58,373,583 (GRCm39) missense probably damaging 1.00
R5934:Musk UTSW 4 58,373,613 (GRCm39) missense probably damaging 1.00
R6230:Musk UTSW 4 58,367,576 (GRCm39) missense probably damaging 1.00
R6335:Musk UTSW 4 58,366,811 (GRCm39) missense probably benign
R6358:Musk UTSW 4 58,373,171 (GRCm39) missense possibly damaging 0.72
R6395:Musk UTSW 4 58,286,169 (GRCm39) missense probably benign
R6652:Musk UTSW 4 58,368,977 (GRCm39) missense probably damaging 1.00
R6764:Musk UTSW 4 58,354,027 (GRCm39) missense probably damaging 1.00
R7233:Musk UTSW 4 58,373,307 (GRCm39) missense possibly damaging 0.83
R7238:Musk UTSW 4 58,344,312 (GRCm39) missense probably benign 0.01
R7271:Musk UTSW 4 58,373,409 (GRCm39) missense probably damaging 1.00
R7511:Musk UTSW 4 58,333,672 (GRCm39) missense probably benign 0.10
R7925:Musk UTSW 4 58,367,513 (GRCm39) missense probably damaging 1.00
R8085:Musk UTSW 4 58,373,110 (GRCm39) missense probably benign 0.00
R8243:Musk UTSW 4 58,293,600 (GRCm39) missense probably benign
R8249:Musk UTSW 4 58,368,926 (GRCm39) missense probably damaging 1.00
R8501:Musk UTSW 4 58,367,502 (GRCm39) missense probably damaging 1.00
R8671:Musk UTSW 4 58,286,051 (GRCm39) start gained probably benign
R8672:Musk UTSW 4 58,286,051 (GRCm39) start gained probably benign
R8839:Musk UTSW 4 58,286,151 (GRCm39) missense probably benign
R8927:Musk UTSW 4 58,301,638 (GRCm39) missense probably damaging 0.99
R8928:Musk UTSW 4 58,301,638 (GRCm39) missense probably damaging 0.99
R8988:Musk UTSW 4 58,354,032 (GRCm39) missense probably benign 0.04
R9167:Musk UTSW 4 58,296,687 (GRCm39) missense probably benign 0.30
X0020:Musk UTSW 4 58,368,996 (GRCm39) missense probably damaging 1.00
X0066:Musk UTSW 4 58,327,356 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACCTAGGTCTAAGTGCAGAGG -3'
(R):5'- GACATGCTACTTTCTAGTGGAAGG -3'

Sequencing Primer
(F):5'- CCTAGGTCTAAGTGCAGAGGTCATTG -3'
(R):5'- AGAACACTGCTTTTCCAGGG -3'
Posted On 2020-08-01