Incidental Mutation 'R7918:Mast2'
ID 648174
Institutional Source Beutler Lab
Gene Symbol Mast2
Ensembl Gene ENSMUSG00000003810
Gene Name microtubule associated serine/threonine kinase 2
Synonyms MAST205, Mtssk
MMRRC Submission 045966-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7918 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 116163957-116321420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116292732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 79 (I79M)
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: I18M

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: I18M

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 possibly damaging
Transcript: ENSMUST00000106484
AA Change: I18M

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: I18M

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: I79M

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: I79M

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 possibly damaging
Transcript: ENSMUST00000106486
AA Change: I79M

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: I79M

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330070K13Rik G A 5: 130,413,269 (GRCm39) T30I unknown Het
Adam21 A G 12: 81,607,378 (GRCm39) V128A possibly damaging Het
Adam26a T C 8: 44,022,566 (GRCm39) Y308C probably damaging Het
Adam26b A G 8: 43,974,138 (GRCm39) V288A probably benign Het
Ankrd29 A C 18: 12,428,979 (GRCm39) L30R probably damaging Het
Bank1 A G 3: 135,799,123 (GRCm39) I406T probably damaging Het
Cacna1g A G 11: 94,334,856 (GRCm39) I817T probably benign Het
Catsperd T C 17: 56,938,564 (GRCm39) F31L probably benign Het
Cep164 A G 9: 45,690,986 (GRCm39) probably null Het
Clca4b T C 3: 144,619,033 (GRCm39) Y702C probably damaging Het
Clstn1 A G 4: 149,728,508 (GRCm39) I655V probably damaging Het
Dock1 A G 7: 134,747,147 (GRCm39) E1486G probably damaging Het
Epha8 A G 4: 136,661,877 (GRCm39) F573L probably benign Het
Exoc1 A G 5: 76,691,840 (GRCm39) N323S probably benign Het
Exoc6b C T 6: 85,046,332 (GRCm39) R19Q probably damaging Het
Gcsam T C 16: 45,440,502 (GRCm39) *182R probably null Het
Ighv9-2 T C 12: 114,072,911 (GRCm39) I21V probably benign Het
Ints2 G A 11: 86,113,043 (GRCm39) T825M probably damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lad1 A G 1: 135,757,454 (GRCm39) T398A probably benign Het
Lrfn2 T C 17: 49,378,212 (GRCm39) V431A probably damaging Het
Nup107 A G 10: 117,617,905 (GRCm39) V171A probably benign Het
Or1e1c T C 11: 73,265,923 (GRCm39) F119S probably damaging Het
Or8b101 T A 9: 38,020,103 (GRCm39) Y35* probably null Het
Or8g37 C A 9: 39,731,406 (GRCm39) T157K probably damaging Het
Pde4dip T A 3: 97,622,539 (GRCm39) K1557* probably null Het
Plat C T 8: 23,263,655 (GRCm39) P185S probably damaging Het
Plcg1 T G 2: 160,595,585 (GRCm39) V511G probably damaging Het
Plxnb3 C T X: 72,811,251 (GRCm39) A1258V probably benign Het
Rnf223 T C 4: 156,217,240 (GRCm39) V205A probably benign Het
Slc13a1 G C 6: 24,118,065 (GRCm39) T224R probably benign Het
Slc39a10 T A 1: 46,874,912 (GRCm39) H130L possibly damaging Het
Sucnr1 T A 3: 59,993,790 (GRCm39) I106N probably damaging Het
Syde2 T C 3: 145,708,170 (GRCm39) probably null Het
Syne1 T C 10: 5,309,078 (GRCm39) I644V possibly damaging Het
Tbc1d8 A C 1: 39,441,809 (GRCm39) F261C probably damaging Het
Tmem132e A G 11: 82,336,116 (GRCm39) Y1066C probably damaging Het
Trip12 A C 1: 84,722,784 (GRCm39) I1322S probably damaging Het
Tsnaxip1 A G 8: 106,571,167 (GRCm39) I676V probably benign Het
Vmn1r231 A T 17: 21,110,236 (GRCm39) Y226* probably null Het
Vmn2r63 G C 7: 42,552,955 (GRCm39) A767G probably damaging Het
Wdr5b A G 16: 35,862,192 (GRCm39) T104A probably damaging Het
Zbed5 T C 5: 129,930,504 (GRCm39) V151A possibly damaging Het
Zc3h7b T C 15: 81,653,189 (GRCm39) F31S probably damaging Het
Zfp874b A T 13: 67,622,279 (GRCm39) C340S possibly damaging Het
Zmym4 T A 4: 126,804,797 (GRCm39) probably null 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
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
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'- TTCTGGAGGTTGAACCCAGG -3'
(R):5'- ACTGTAGTACTTTTGGGTCAGTAAGAG -3'

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