Incidental Mutation 'R7271:Musk'
ID 565282
Institutional Source Beutler Lab
Gene Symbol Musk
Ensembl Gene ENSMUSG00000057280
Gene Name muscle, skeletal, receptor tyrosine kinase
Synonyms Nsk1, MDK4, Nsk2, Nsk3
MMRRC Submission 045356-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7271 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 58285960-58374303 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58373409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 793 (M793K)
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: M768K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080590
Gene: ENSMUSG00000057280
AA Change: M768K

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 probably damaging
Transcript: ENSMUST00000084578
AA Change: M768K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081625
Gene: ENSMUSG00000057280
AA Change: M768K

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: M793K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095665
Gene: ENSMUSG00000057280
AA Change: M793K

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: M770K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095667
Gene: ENSMUSG00000057280
AA Change: M770K

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: M760K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099957
Gene: ENSMUSG00000057280
AA Change: M760K

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: M770K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136696
Gene: ENSMUSG00000057280
AA Change: M770K

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 probably damaging
Transcript: ENSMUST00000179951
AA Change: M778K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137453
Gene: ENSMUSG00000057280
AA Change: M778K

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 0.8233 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (58/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l C T 10: 42,291,544 (GRCm39) probably null Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
Alpk3 A G 7: 80,728,202 (GRCm39) E444G possibly damaging Het
Amer2 T A 14: 60,617,123 (GRCm39) D439E possibly damaging Het
Ano6 A G 15: 95,811,781 (GRCm39) Y222C probably damaging Het
Atp4a A C 7: 30,421,944 (GRCm39) K827Q probably benign Het
Atp9a G A 2: 168,576,047 (GRCm39) Het
Casp7 T A 19: 56,424,793 (GRCm39) C171S probably damaging Het
Ccdc9b T A 2: 118,591,164 (GRCm39) probably null Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cdkl1 A G 12: 69,795,585 (GRCm39) L315S probably benign Het
Cfap91 A G 16: 38,148,708 (GRCm39) I240T probably damaging Het
Crybg1 G T 10: 43,873,619 (GRCm39) S1163* probably null Het
Csmd1 A T 8: 17,077,295 (GRCm39) W121R probably damaging Het
Cyyr1 A T 16: 85,262,493 (GRCm39) M88K possibly damaging Het
Dlc1 T C 8: 37,049,954 (GRCm39) Q587R probably damaging Het
Dock2 T C 11: 34,223,750 (GRCm39) E1128G possibly damaging Het
Dynap T A 18: 70,374,320 (GRCm39) T69S possibly damaging Het
Esr1 T C 10: 4,733,874 (GRCm39) C225R probably damaging Het
Fbxo31 C T 8: 122,305,503 (GRCm39) probably benign Het
Fndc11 G A 2: 180,863,893 (GRCm39) V233I possibly damaging Het
Fto T C 8: 92,211,818 (GRCm39) F381S probably damaging Het
Gtf2ird1 A G 5: 134,433,758 (GRCm39) L223P probably benign Het
Ifi214 A T 1: 173,357,042 (GRCm39) H20Q probably damaging Het
Impa2 T A 18: 67,439,806 (GRCm39) I101N probably damaging Het
Kidins220 A T 12: 25,061,570 (GRCm39) T854S probably benign Het
Lamb1 T A 12: 31,337,423 (GRCm39) C385S probably damaging Het
Lrrc8c A G 5: 105,755,853 (GRCm39) S543G probably benign Het
Manba A T 3: 135,248,137 (GRCm39) Y342F probably damaging Het
Map3k1 T C 13: 111,893,231 (GRCm39) D758G probably benign Het
Mtor G T 4: 148,630,942 (GRCm39) A2300S possibly damaging Het
Nup133 A C 8: 124,649,153 (GRCm39) I563S probably benign Het
Or10ab4 G A 7: 107,654,423 (GRCm39) R78Q probably damaging Het
Or10ag55-ps1 T A 2: 87,114,725 (GRCm39) N30K probably benign Het
Or4k77 A G 2: 111,199,693 (GRCm39) T239A probably damaging Het
Or8g21 A T 9: 38,905,953 (GRCm39) Y259* probably null Het
Pcdh12 C A 18: 38,416,100 (GRCm39) V342F probably damaging Het
Pcdhb4 T A 18: 37,441,222 (GRCm39) H177Q possibly damaging Het
Pcnx2 G A 8: 126,613,690 (GRCm39) A587V probably benign Het
Phkb C T 8: 86,770,418 (GRCm39) P896S probably damaging Het
Prss36 A G 7: 127,543,877 (GRCm39) S165P probably benign Het
Prss43 A G 9: 110,657,671 (GRCm39) D190G probably damaging Het
Psmd14 T C 2: 61,591,356 (GRCm39) V53A probably damaging Het
Sel1l3 T G 5: 53,273,704 (GRCm39) H1054P probably damaging Het
Selenoh T C 2: 84,500,631 (GRCm39) R70G probably damaging Het
Serpinb9d A G 13: 33,378,617 (GRCm39) Q21R probably benign Het
Slc29a1 T C 17: 45,899,288 (GRCm39) E262G probably benign Het
Slc7a14 A G 3: 31,278,384 (GRCm39) L407P probably damaging Het
Smyd4 T C 11: 75,281,325 (GRCm39) V266A possibly damaging Het
Spata31d1a T A 13: 59,849,913 (GRCm39) R738S probably benign Het
Speer4a2 G A 5: 26,292,993 (GRCm39) T67I probably benign Het
Srcin1 C T 11: 97,442,715 (GRCm39) G38S probably damaging Het
Stab2 A T 10: 86,838,972 (GRCm39) probably null Het
Syde2 A G 3: 145,726,031 (GRCm39) N1308D possibly damaging Het
Trip11 A T 12: 101,850,611 (GRCm39) M1151K probably damaging Het
Ttll4 A T 1: 74,727,820 (GRCm39) I861F possibly damaging Het
Zfp319 G A 8: 96,058,471 (GRCm39) probably benign Het
Zfp518b T C 5: 38,831,907 (GRCm39) N33D probably benign Het
Zfp874a T A 13: 67,591,415 (GRCm39) I90F probably benign Het
Zmiz2 G T 11: 6,349,593 (GRCm39) V412L probably damaging 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
BB002:Musk UTSW 4 58,367,513 (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
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'- AACAGCTCTGCATTGCCAG -3'
(R):5'- AGGTTGTACAGTTCCAAGGG -3'

Sequencing Primer
(F):5'- TGCATTGCCAGGCAGGTG -3'
(R):5'- TACAGTTCCAAGGGGCAGTTCTC -3'
Posted On 2019-06-26