Incidental Mutation 'R1447:Mast2'
ID 160691
Institutional Source Beutler Lab
Gene Symbol Mast2
Ensembl Gene ENSMUSG00000003810
Gene Name microtubule associated serine/threonine kinase 2
Synonyms MAST205, Mtssk
MMRRC Submission 039502-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1447 (G1)
Quality Score 136
Status Not validated
Chromosome 4
Chromosomal Location 116163957-116321420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 116169210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 733 (M733I)
Ref Sequence ENSEMBL: ENSMUSP00000102093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003908] [ENSMUST00000106484] [ENSMUST00000106485] [ENSMUST00000106486]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000003908
AA Change: M726I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: M726I

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: M733I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: M733I

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: M787I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: M787I

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: M794I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: M794I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128713
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147459
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.8%
  • 20x: 84.2%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A T 15: 11,263,447 (GRCm39) D603V probably benign Het
Ahnak A T 19: 8,984,446 (GRCm39) E1910V probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Amotl1 A G 9: 14,467,038 (GRCm39) V704A probably benign Het
Ankrd50 A T 3: 38,509,691 (GRCm39) V892E probably damaging Het
Aoc1 G A 6: 48,883,176 (GRCm39) V351I probably benign Het
Atp6v1b1 T C 6: 83,734,924 (GRCm39) V412A possibly damaging Het
Atp8b2 A T 3: 89,851,477 (GRCm39) I906N probably damaging Het
Bltp1 T C 3: 37,019,735 (GRCm39) L2048P probably damaging Het
Bnc2 A G 4: 84,211,457 (GRCm39) V304A probably benign Het
Btaf1 A G 19: 36,969,854 (GRCm39) D1176G probably benign Het
C1qtnf3 G A 15: 10,952,735 (GRCm39) G66R probably damaging Het
Ccdc162 T C 10: 41,456,243 (GRCm39) E360G probably damaging Het
Csmd1 C A 8: 15,975,306 (GRCm39) G2968* probably null Het
Cyp2j7 A T 4: 96,083,530 (GRCm39) F473L possibly damaging Het
Ddx24 T C 12: 103,390,566 (GRCm39) K142E possibly damaging Het
Dnah1 A T 14: 31,028,855 (GRCm39) M625K probably benign Het
Dnah9 A T 11: 65,999,308 (GRCm39) Y944N possibly damaging Het
Eef1akmt1 T A 14: 57,803,441 (GRCm39) K38* probably null Het
Enpp2 C T 15: 54,782,994 (GRCm39) probably null Het
Eps8l1 A G 7: 4,477,055 (GRCm39) E508G probably damaging Het
Etaa1 A T 11: 17,896,625 (GRCm39) D497E possibly damaging Het
Fam181b C T 7: 92,729,368 (GRCm39) A47V probably damaging Het
Fubp3 T C 2: 31,490,559 (GRCm39) V221A probably damaging Het
Golga2 T C 2: 32,187,788 (GRCm39) V191A possibly damaging Het
Haus5 G T 7: 30,361,216 (GRCm39) probably null Het
Hydin T C 8: 111,249,798 (GRCm39) L2247P probably damaging Het
Lama5 A C 2: 179,827,671 (GRCm39) I2197S probably damaging Het
Mapre3 C T 5: 31,019,151 (GRCm39) probably benign Het
Mphosph10 A T 7: 64,030,698 (GRCm39) F514I probably damaging Het
Mterf3 A G 13: 67,065,103 (GRCm39) L266P probably damaging Het
Nup205 A G 6: 35,192,120 (GRCm39) D1114G probably benign Het
Or1ak2 T G 2: 36,827,788 (GRCm39) V219G possibly damaging Het
Or1e21 A G 11: 73,344,700 (GRCm39) F113L probably benign Het
Phf24 G T 4: 42,938,232 (GRCm39) E119* probably null Het
Pik3r5 G A 11: 68,385,003 (GRCm39) R636Q probably benign Het
Plaat3 G A 19: 7,556,598 (GRCm39) R133H probably benign Het
Rida T A 15: 34,488,757 (GRCm39) Q45L possibly damaging Het
Ros1 T C 10: 51,974,954 (GRCm39) T1544A possibly damaging Het
Rpl7 T A 1: 16,172,821 (GRCm39) Y166F probably benign Het
Rps6ka5 A G 12: 100,544,084 (GRCm39) I338T probably benign Het
Scn3a A T 2: 65,300,324 (GRCm39) N1347K probably damaging Het
Serpinb6d A G 13: 33,854,739 (GRCm39) D238G probably benign Het
Sh3rf2 T A 18: 42,234,736 (GRCm39) I173N probably benign Het
Smarcc2 T C 10: 128,305,660 (GRCm39) probably null Het
Thoc2l T C 5: 104,670,070 (GRCm39) S1531P possibly damaging Het
Thsd4 T C 9: 59,904,496 (GRCm39) N567D probably benign Het
Tmprss13 C A 9: 45,239,878 (GRCm39) P62Q unknown Het
Tmprss7 T C 16: 45,501,033 (GRCm39) Q256R probably benign Het
Tssc4 A G 7: 142,623,892 (GRCm39) T67A probably benign Het
Tssk5 G A 15: 76,256,304 (GRCm39) Q372* probably null Het
Usp47 G T 7: 111,673,775 (GRCm39) probably null Het
Utp15 A G 13: 98,389,386 (GRCm39) I304T possibly damaging Het
Vmn1r35 A C 6: 66,655,890 (GRCm39) V93G probably benign Het
Zfhx3 A C 8: 109,675,076 (GRCm39) Q2042P probably benign Het
Zfp532 C A 18: 65,758,061 (GRCm39) R665S probably damaging Het
Zfp976 G T 7: 42,262,023 (GRCm39) P605T possibly damaging Het
Zfpl1 A G 19: 6,132,649 (GRCm39) V125A possibly 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
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
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'- CACACCTTGCTGAACCTTGGAGAG -3'
(R):5'- ACAGAGAGGCTACTTCCATGTACCC -3'

Sequencing Primer
(F):5'- ATCCTCAGAGTCCACATGGTG -3'
(R):5'- AAGTTCAATGGGAAGTCCCTC -3'
Posted On 2014-03-14