Incidental Mutation 'R7939:Mast2'
ID 648924
Institutional Source Beutler Lab
Gene Symbol Mast2
Ensembl Gene ENSMUSG00000003810
Gene Name microtubule associated serine/threonine kinase 2
Synonyms MAST205, Mtssk
MMRRC Submission 045985-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7939 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 116163957-116321420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116287668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 136 (S136T)
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: S75T

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: S75T

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: S75T

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: S75T

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 possibly damaging
Transcript: ENSMUST00000106485
AA Change: S136T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: S136T

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: S136T

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: S136T

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A G 8: 87,275,433 (GRCm39) I415T probably damaging Het
Ackr3 A G 1: 90,142,287 (GRCm39) S249G probably benign Het
Adgre1 G T 17: 57,756,938 (GRCm39) A732S probably damaging Het
Ahnak T A 19: 8,991,448 (GRCm39) L4244* probably null Het
Aldh3a2 C A 11: 61,115,424 (GRCm39) C511F probably benign Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ankrd11 A T 8: 123,617,812 (GRCm39) H2013Q probably damaging Het
Atp5mc3 A G 2: 73,740,206 (GRCm39) probably null Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Chtf18 A T 17: 25,941,111 (GRCm39) I629N probably damaging Het
Clstn3 T C 6: 124,439,158 (GRCm39) Y33C probably damaging Het
Cmc2 T C 8: 117,616,513 (GRCm39) R71G unknown Het
Cts7 A T 13: 61,504,364 (GRCm39) N66K probably damaging Het
Cysltr2 C T 14: 73,267,399 (GRCm39) V104I possibly damaging Het
Dnai4 G A 4: 102,953,798 (GRCm39) Q134* probably null Het
Dnm3 C T 1: 162,123,165 (GRCm39) V460I possibly damaging Het
Ecel1 C T 1: 87,077,256 (GRCm39) V651I probably benign Het
Ext2 G A 2: 93,560,601 (GRCm39) R522C probably damaging Het
Farp2 T C 1: 93,487,983 (GRCm39) L70P probably damaging Het
Fnip1 T C 11: 54,393,093 (GRCm39) Y510H probably damaging Het
Gm15446 T C 5: 110,090,360 (GRCm39) V204A probably benign Het
Gm29394 T C 15: 57,912,046 (GRCm39) K53E unknown Het
Gm39115 T C 7: 141,689,768 (GRCm39) T2A unknown Het
Helz2 A G 2: 180,879,543 (GRCm39) W692R probably damaging Het
Htra2 A T 6: 83,028,545 (GRCm39) Y428N probably damaging Het
Khdrbs2 T A 1: 32,212,056 (GRCm39) S20T probably benign Het
Kifap3 C A 1: 163,643,427 (GRCm39) Y217* probably null Het
Mesp1 C T 7: 79,442,734 (GRCm39) W181* probably null Het
Mtch1 A C 17: 29,559,806 (GRCm39) S158A probably damaging Het
Mtmr10 C A 7: 63,963,899 (GRCm39) S211R probably benign Het
Mtmr9 C A 14: 63,771,973 (GRCm39) Q204H probably damaging Het
Myo5a A G 9: 75,097,182 (GRCm39) N43D Het
Myom3 G T 4: 135,534,589 (GRCm39) probably null Het
Neb T C 2: 52,076,073 (GRCm39) D5903G probably damaging Het
Niban1 T G 1: 151,581,775 (GRCm39) L457R probably damaging Het
Noxred1 A G 12: 87,268,105 (GRCm39) V342A probably benign Het
Nsd2 T A 5: 34,012,933 (GRCm39) S421R probably benign Het
Or10a3 T C 7: 108,480,481 (GRCm39) I111V probably benign Het
Or5p55 T A 7: 107,566,986 (GRCm39) C127* probably null Het
Oxa1l T C 14: 54,604,876 (GRCm39) C270R probably benign Het
Pcdha3 T A 18: 37,080,933 (GRCm39) N558K probably damaging Het
Pcdha7 T C 18: 37,109,063 (GRCm39) V696A possibly damaging Het
Pigl T C 11: 62,349,506 (GRCm39) L74P probably damaging Het
Plch2 G T 4: 155,087,235 (GRCm39) R339S possibly damaging Het
Prdm11 G T 2: 92,843,074 (GRCm39) D128E probably damaging Het
Ptdss1 A G 13: 67,143,411 (GRCm39) T415A probably benign Het
Ptprj A T 2: 90,295,009 (GRCm39) W400R probably damaging Het
Qdpr T C 5: 45,607,407 (GRCm39) Y13C probably damaging Het
Retsat G A 6: 72,581,919 (GRCm39) M355I probably benign Het
Slc24a1 T G 9: 64,835,648 (GRCm39) E826D probably benign Het
Taok3 T C 5: 117,331,902 (GRCm39) F40L probably benign Het
Tecta T C 9: 42,299,519 (GRCm39) T190A probably damaging Het
Tmem220 C A 11: 66,920,850 (GRCm39) T85K probably damaging Het
Traip T C 9: 107,833,077 (GRCm39) F38L probably benign Het
Tspan1 A T 4: 116,024,209 (GRCm39) I18N probably damaging Het
Ttc24 A T 3: 87,981,945 (GRCm39) D40E possibly damaging Het
Ttn A T 2: 76,542,737 (GRCm39) Y33416* probably null Het
Ttn A T 2: 76,576,105 (GRCm39) D24929E probably damaging Het
Vmn2r16 T A 5: 109,487,705 (GRCm39) S193T possibly damaging Het
Vmn2r83 T A 10: 79,314,651 (GRCm39) W300R probably damaging Het
Vps13a C T 19: 16,718,155 (GRCm39) V522M possibly damaging Het
Wdr17 C A 8: 55,140,677 (GRCm39) R232L probably damaging Het
Wtap A T 17: 13,200,683 (GRCm39) Y33* probably null Het
Zc3h10 A T 10: 128,380,376 (GRCm39) V327E probably damaging Het
Zfp658 T C 7: 43,224,301 (GRCm39) S859P possibly damaging Het
Zfp874b A T 13: 67,622,622 (GRCm39) C225* probably null Het
Zfp980 A T 4: 145,428,582 (GRCm39) H437L probably damaging 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
R8052:Mast2 UTSW 4 116,170,172 (GRCm39) missense probably damaging 0.99
R8115:Mast2 UTSW 4 116,292,644 (GRCm39) missense probably benign 0.01
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'- TGTCCAGTATTTGCCAGAGC -3'
(R):5'- GCCCTGTCAAATTCGTACATG -3'

Sequencing Primer
(F):5'- AGGTTAGCCTGTCCACTAAGTCAG -3'
(R):5'- CCCTGTCAAATTCGTACATGGATAAG -3'
Posted On 2020-09-15