Incidental Mutation 'R8115:Mast2'
ID 631125
Institutional Source Beutler Lab
Gene Symbol Mast2
Ensembl Gene ENSMUSG00000003810
Gene Name microtubule associated serine/threonine kinase 2
Synonyms MAST205, Mtssk
MMRRC Submission 067544-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8115 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 116163957-116321420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116292644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 109 (S109P)
Ref Sequence ENSEMBL: ENSMUSP00000102095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003908] [ENSMUST00000106484] [ENSMUST00000106485] [ENSMUST00000106486]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000003908
AA Change: S48P

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: S48P

DomainStartEndE-ValueType
low complexity region 38 49 N/A INTRINSIC
low complexity region 56 63 N/A INTRINSIC
Pfam:DUF1908 141 416 1.8e-148 PFAM
S_TKc 452 725 2.96e-99 SMART
S_TK_X 726 786 1.08e-1 SMART
low complexity region 849 861 N/A INTRINSIC
low complexity region 1009 1028 N/A INTRINSIC
PDZ 1049 1129 2.23e-12 SMART
low complexity region 1142 1157 N/A INTRINSIC
low complexity region 1177 1210 N/A INTRINSIC
low complexity region 1224 1249 N/A INTRINSIC
low complexity region 1279 1302 N/A INTRINSIC
low complexity region 1345 1360 N/A INTRINSIC
low complexity region 1437 1452 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106484
AA Change: S48P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: S48P

DomainStartEndE-ValueType
low complexity region 38 49 N/A INTRINSIC
low complexity region 56 63 N/A INTRINSIC
Pfam:DUF1908 141 423 1.3e-151 PFAM
S_TKc 459 732 2.96e-99 SMART
S_TK_X 733 793 1.08e-1 SMART
low complexity region 856 868 N/A INTRINSIC
low complexity region 1016 1035 N/A INTRINSIC
PDZ 1056 1136 2.23e-12 SMART
low complexity region 1149 1164 N/A INTRINSIC
low complexity region 1184 1217 N/A INTRINSIC
low complexity region 1233 1255 N/A INTRINSIC
low complexity region 1285 1308 N/A INTRINSIC
low complexity region 1351 1366 N/A INTRINSIC
low complexity region 1443 1458 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106485
AA Change: S109P

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: S109P

DomainStartEndE-ValueType
low complexity region 7 26 N/A INTRINSIC
low complexity region 27 41 N/A INTRINSIC
low complexity region 99 110 N/A INTRINSIC
low complexity region 117 124 N/A INTRINSIC
Pfam:DUF1908 202 477 1.1e-148 PFAM
S_TKc 513 786 2.96e-99 SMART
S_TK_X 787 847 1.08e-1 SMART
low complexity region 910 922 N/A INTRINSIC
low complexity region 1070 1089 N/A INTRINSIC
PDZ 1110 1190 2.23e-12 SMART
low complexity region 1203 1218 N/A INTRINSIC
low complexity region 1238 1271 N/A INTRINSIC
low complexity region 1285 1310 N/A INTRINSIC
low complexity region 1340 1363 N/A INTRINSIC
low complexity region 1406 1421 N/A INTRINSIC
low complexity region 1498 1513 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106486
AA Change: S109P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: S109P

DomainStartEndE-ValueType
low complexity region 7 26 N/A INTRINSIC
low complexity region 27 41 N/A INTRINSIC
low complexity region 99 110 N/A INTRINSIC
low complexity region 117 124 N/A INTRINSIC
Pfam:DUF1908 202 483 2.9e-143 PFAM
S_TKc 520 793 2.96e-99 SMART
S_TK_X 794 854 1.08e-1 SMART
low complexity region 917 929 N/A INTRINSIC
low complexity region 1077 1096 N/A INTRINSIC
PDZ 1117 1197 2.23e-12 SMART
low complexity region 1210 1225 N/A INTRINSIC
low complexity region 1245 1278 N/A INTRINSIC
low complexity region 1294 1316 N/A INTRINSIC
low complexity region 1346 1369 N/A INTRINSIC
low complexity region 1412 1427 N/A INTRINSIC
low complexity region 1504 1519 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.5%
  • 10x: 98.4%
  • 20x: 94.2%
Validation Efficiency 100% (68/68)
MGI Phenotype PHENOTYPE: No phenotype has been reported for a gene trap strain; however, it is not yet known whether the gene trap insertion affects expression of the gene. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T G 15: 60,791,996 (GRCm39) I211L probably benign Het
Abhd16b G A 2: 181,135,527 (GRCm39) R143H possibly damaging Het
Abt1 T C 13: 23,606,402 (GRCm39) E184G probably damaging Het
Aqp1 AGG AGGG 6: 55,322,498 (GRCm39) probably null Het
Asxl3 G A 18: 22,650,642 (GRCm39) R877Q probably damaging Het
B3galt1 A G 2: 67,948,320 (GRCm39) T12A possibly damaging Het
Bcat1 G A 6: 144,955,819 (GRCm39) P354L probably damaging Het
C9orf72 T C 4: 35,218,763 (GRCm39) Y32C Het
Cad T C 5: 31,218,271 (GRCm39) F452L possibly damaging Het
Cadps2 T A 6: 23,328,897 (GRCm39) I973F probably benign Het
Cenpq T C 17: 41,243,720 (GRCm39) N43D probably damaging Het
Chd9 G T 8: 91,762,960 (GRCm39) V2262L probably damaging Het
Cttnbp2nl G T 3: 104,913,402 (GRCm39) Q161K probably damaging Het
D630003M21Rik A T 2: 158,058,510 (GRCm39) H463Q probably benign Het
Defb1 C T 8: 22,284,500 (GRCm39) H40Y probably benign Het
Dmrtb1 A T 4: 107,534,256 (GRCm39) D186E probably benign Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Efr3a T A 15: 65,738,644 (GRCm39) F758I probably damaging Het
Fap A G 2: 62,349,385 (GRCm39) I501T probably benign Het
Galr3 C T 15: 78,927,524 (GRCm39) R322* probably null Het
Hrnr C A 3: 93,231,039 (GRCm39) R426S unknown Het
Hsp90ab1 A T 17: 45,880,201 (GRCm39) M476K possibly damaging Het
Igsf3 G T 3: 101,362,595 (GRCm39) R872L probably benign Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Iqsec3 T G 6: 121,449,989 (GRCm39) R178S unknown Het
Itgbl1 T C 14: 124,094,955 (GRCm39) C327R probably damaging Het
Itsn2 A T 12: 4,723,602 (GRCm39) Q1179L possibly damaging Het
Kcnb2 T C 1: 15,781,851 (GRCm39) *908R probably null Het
Kdm5b G T 1: 134,547,411 (GRCm39) W1020L possibly damaging Het
Kpna3 C A 14: 61,608,367 (GRCm39) V364L probably damaging Het
Lsm14a T C 7: 34,074,662 (GRCm39) I93V probably benign Het
Muc4 G A 16: 32,575,678 (GRCm39) S1726N unknown Het
Myo7a T C 7: 97,715,653 (GRCm39) D1477G probably damaging Het
Nostrin G A 2: 69,011,264 (GRCm39) probably null Het
Oasl1 T A 5: 115,074,996 (GRCm39) V352E probably damaging Het
Or9a2 T A 6: 41,748,472 (GRCm39) T254S probably benign Het
Pafah1b1 A G 11: 74,575,319 (GRCm39) V195A probably damaging Het
Pcdhb4 G A 18: 37,442,453 (GRCm39) V588M probably damaging Het
Pcsk5 A G 19: 17,487,530 (GRCm39) probably null Het
Peg10 A G 6: 4,756,707 (GRCm39) I428V unknown Het
Pmfbp1 G A 8: 110,263,669 (GRCm39) V824M probably damaging Het
Prkag3 T C 1: 74,787,118 (GRCm39) R47G possibly damaging Het
Prl8a1 T A 13: 27,758,028 (GRCm39) H227L probably benign Het
Prune2 A G 19: 17,101,288 (GRCm39) D2264G probably benign Het
Psg28 A G 7: 18,164,311 (GRCm39) Y134H probably benign Het
Rab3gap2 T A 1: 184,999,447 (GRCm39) Y1019N possibly damaging Het
Rbm15 A T 3: 107,238,966 (GRCm39) F477L probably damaging Het
Ric1 A T 19: 29,563,973 (GRCm39) N576Y probably damaging Het
S1pr1 T A 3: 115,506,298 (GRCm39) T99S probably benign Het
Serpinb9b G T 13: 33,219,531 (GRCm39) V153F probably null Het
Sh2d3c A G 2: 32,615,276 (GRCm39) E122G probably benign Het
Slc6a11 T A 6: 114,108,442 (GRCm39) W69R probably damaging Het
Slco6c1 T A 1: 97,000,686 (GRCm39) I539F probably damaging Het
Smgc G T 15: 91,733,322 (GRCm39) probably null Het
Spata17 T C 1: 186,849,653 (GRCm39) Y194C probably damaging Het
Tap1 A T 17: 34,412,293 (GRCm39) probably null Het
Topbp1 T C 9: 103,197,740 (GRCm39) S440P probably benign Het
Trpc6 T C 9: 8,609,982 (GRCm39) L150P probably damaging Het
Ttll4 C T 1: 74,726,489 (GRCm39) Q696* probably null Het
Ubash3b C T 9: 40,937,624 (GRCm39) E447K probably damaging Het
Unc5cl T C 17: 48,774,438 (GRCm39) S477P possibly damaging Het
Unc80 A G 1: 66,688,072 (GRCm39) T2357A probably benign Het
Vmn1r58 A T 7: 5,413,341 (GRCm39) S296R probably benign Het
Vmn2r85 G T 10: 130,261,820 (GRCm39) N172K probably benign Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Yipf7 T A 5: 69,684,570 (GRCm39) T82S probably benign Het
Zap70 A G 1: 36,820,287 (GRCm39) S523G probably damaging Het
Zfp354a A G 11: 50,960,490 (GRCm39) T233A probably benign Het
Other mutations in Mast2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Mast2 APN 4 116,168,526 (GRCm39) missense probably benign 0.39
IGL00916:Mast2 APN 4 116,184,830 (GRCm39) missense possibly damaging 0.88
IGL02112:Mast2 APN 4 116,176,961 (GRCm39) missense probably damaging 1.00
R0645:Mast2 UTSW 4 116,170,043 (GRCm39) splice site probably benign
R0645:Mast2 UTSW 4 116,165,184 (GRCm39) missense probably damaging 1.00
R0883:Mast2 UTSW 4 116,168,964 (GRCm39) missense probably damaging 1.00
R1447:Mast2 UTSW 4 116,169,210 (GRCm39) missense probably benign 0.02
R1449:Mast2 UTSW 4 116,166,210 (GRCm39) missense probably damaging 1.00
R1473:Mast2 UTSW 4 116,169,152 (GRCm39) missense probably damaging 1.00
R1491:Mast2 UTSW 4 116,173,688 (GRCm39) missense possibly damaging 0.90
R1529:Mast2 UTSW 4 116,287,716 (GRCm39) missense probably benign 0.17
R1654:Mast2 UTSW 4 116,173,747 (GRCm39) critical splice acceptor site probably null
R1768:Mast2 UTSW 4 116,164,156 (GRCm39) missense probably damaging 1.00
R1807:Mast2 UTSW 4 116,167,938 (GRCm39) splice site probably benign
R1981:Mast2 UTSW 4 116,172,037 (GRCm39) missense probably damaging 1.00
R2081:Mast2 UTSW 4 116,187,671 (GRCm39) splice site probably null
R2157:Mast2 UTSW 4 116,179,480 (GRCm39) missense probably damaging 1.00
R3409:Mast2 UTSW 4 116,168,107 (GRCm39) missense possibly damaging 0.94
R3411:Mast2 UTSW 4 116,168,107 (GRCm39) missense possibly damaging 0.94
R3434:Mast2 UTSW 4 116,165,292 (GRCm39) missense probably benign 0.00
R3435:Mast2 UTSW 4 116,165,292 (GRCm39) missense probably benign 0.00
R3953:Mast2 UTSW 4 116,170,926 (GRCm39) missense probably damaging 1.00
R4056:Mast2 UTSW 4 116,194,698 (GRCm39) splice site probably benign
R4153:Mast2 UTSW 4 116,173,160 (GRCm39) missense possibly damaging 0.91
R4648:Mast2 UTSW 4 116,172,036 (GRCm39) nonsense probably null
R4671:Mast2 UTSW 4 116,165,847 (GRCm39) missense probably damaging 1.00
R4911:Mast2 UTSW 4 116,210,254 (GRCm39) missense probably benign 0.36
R4980:Mast2 UTSW 4 116,174,948 (GRCm39) missense probably damaging 1.00
R5322:Mast2 UTSW 4 116,190,608 (GRCm39) critical splice donor site probably null
R5462:Mast2 UTSW 4 116,164,655 (GRCm39) missense probably damaging 0.99
R5586:Mast2 UTSW 4 116,292,760 (GRCm39) missense probably damaging 0.99
R5750:Mast2 UTSW 4 116,166,086 (GRCm39) intron probably benign
R5771:Mast2 UTSW 4 116,190,622 (GRCm39) missense possibly damaging 0.60
R5885:Mast2 UTSW 4 116,172,035 (GRCm39) missense probably damaging 1.00
R6230:Mast2 UTSW 4 116,183,295 (GRCm39) missense probably damaging 1.00
R6347:Mast2 UTSW 4 116,174,929 (GRCm39) missense probably damaging 1.00
R6527:Mast2 UTSW 4 116,172,136 (GRCm39) missense probably damaging 0.99
R6619:Mast2 UTSW 4 116,173,694 (GRCm39) nonsense probably null
R7070:Mast2 UTSW 4 116,168,052 (GRCm39) missense probably benign 0.03
R7303:Mast2 UTSW 4 116,165,508 (GRCm39) missense possibly damaging 0.63
R7822:Mast2 UTSW 4 116,170,070 (GRCm39) missense probably damaging 1.00
R7843:Mast2 UTSW 4 116,210,208 (GRCm39) missense probably damaging 0.98
R7918:Mast2 UTSW 4 116,292,732 (GRCm39) missense possibly damaging 0.50
R7939:Mast2 UTSW 4 116,287,668 (GRCm39) missense probably benign 0.09
R8052:Mast2 UTSW 4 116,170,172 (GRCm39) missense probably damaging 0.99
R8312:Mast2 UTSW 4 116,287,683 (GRCm39) missense probably benign
R8398:Mast2 UTSW 4 116,165,946 (GRCm39) missense probably damaging 1.00
R8477:Mast2 UTSW 4 116,164,407 (GRCm39) missense probably benign 0.43
R8759:Mast2 UTSW 4 116,292,757 (GRCm39) missense possibly damaging 0.80
R8832:Mast2 UTSW 4 116,168,875 (GRCm39) critical splice donor site probably null
R9245:Mast2 UTSW 4 116,167,701 (GRCm39) missense probably damaging 1.00
R9261:Mast2 UTSW 4 116,165,900 (GRCm39) missense probably damaging 1.00
R9530:Mast2 UTSW 4 116,169,535 (GRCm39) missense probably damaging 1.00
R9642:Mast2 UTSW 4 116,170,966 (GRCm39) missense probably damaging 0.99
R9709:Mast2 UTSW 4 116,173,044 (GRCm39) missense probably damaging 1.00
R9745:Mast2 UTSW 4 116,167,815 (GRCm39) missense probably benign 0.00
R9746:Mast2 UTSW 4 116,168,927 (GRCm39) missense probably benign 0.01
R9752:Mast2 UTSW 4 116,179,508 (GRCm39) missense probably benign 0.06
X0003:Mast2 UTSW 4 116,164,844 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GCTACCAAGATGACCACTCAATTG -3'
(R):5'- GGGCTGCACGTAAAGGTAC -3'

Sequencing Primer
(F):5'- CCCAGGTTATATACAGGCTAAG -3'
(R):5'- ATCCTCTGGGACTGCTGTTAACAG -3'
Posted On 2020-06-30