Incidental Mutation 'R4671:Mast2'
ID 348414
Institutional Source Beutler Lab
Gene Symbol Mast2
Ensembl Gene ENSMUSG00000003810
Gene Name microtubule associated serine/threonine kinase 2
Synonyms MAST205, Mtssk
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4671 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 116163957-116321420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116165847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1287 (S1287P)
Ref Sequence ENSEMBL: ENSMUSP00000102094 (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: S1226P

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: S1226P

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 damaging
Transcript: ENSMUST00000106484
AA Change: S1233P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: S1233P

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 damaging
Transcript: ENSMUST00000106485
AA Change: S1287P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: S1287P

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: S1294P

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: S1294P

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: ENSMUST00000147459
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156884
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,789,157 (GRCm39) S271P probably benign Het
Acod1 T G 14: 103,284,508 (GRCm39) M2R probably benign Het
Adamts20 T C 15: 94,301,206 (GRCm39) E106G possibly damaging Het
Adgra3 G A 5: 50,136,710 (GRCm39) T661M probably damaging Het
Akap13 T A 7: 75,229,312 (GRCm39) C161* probably null Het
Akr1c12 A C 13: 4,323,816 (GRCm39) S162A possibly damaging Het
Anks1 C A 17: 28,270,552 (GRCm39) H805N probably benign Het
Arhgap22 T C 14: 33,084,500 (GRCm39) C260R probably damaging Het
Banf1 T C 19: 5,415,872 (GRCm39) R33G probably benign Het
Bcas1 T C 2: 170,226,245 (GRCm39) K310R probably damaging Het
Cacna1c G T 6: 118,629,019 (GRCm39) H1240N probably damaging Het
Cartpt C T 13: 100,036,588 (GRCm39) probably null Het
Ccdc127 T A 13: 74,505,164 (GRCm39) Y237* probably null Het
Ccnb1ip1 A T 14: 51,029,734 (GRCm39) Y109* probably null Het
Cenpj A T 14: 56,790,840 (GRCm39) V403E possibly damaging Het
Cps1 A G 1: 67,235,719 (GRCm39) Y951C probably damaging Het
Dcakd T C 11: 102,890,634 (GRCm39) E51G possibly damaging Het
Dennd4a A T 9: 64,801,689 (GRCm39) N944I probably benign Het
Dus3l C T 17: 57,075,566 (GRCm39) R430C probably benign Het
Dync2h1 A G 9: 7,169,640 (GRCm39) L279P possibly damaging Het
Dzip3 G A 16: 48,799,953 (GRCm39) Q112* probably null Het
Eif1ad T A 19: 5,418,219 (GRCm39) M1K probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fancg T C 4: 43,005,272 (GRCm39) E366G probably benign Het
Gin1 C T 1: 97,712,565 (GRCm39) P154S probably damaging Het
Gm11938 A T 11: 99,493,832 (GRCm39) C88S possibly damaging Het
Gpr183 T C 14: 122,192,149 (GRCm39) D124G probably damaging Het
Gucy2g T A 19: 55,226,500 (GRCm39) I139F probably damaging Het
Iqub A T 6: 24,479,183 (GRCm39) M453K probably benign Het
Jcad A G 18: 4,674,175 (GRCm39) T646A probably benign Het
Kif23 A T 9: 61,852,641 (GRCm39) D24E probably benign Het
Kmt2c T C 5: 25,571,175 (GRCm39) N845S probably damaging Het
Lhx5 G A 5: 120,578,032 (GRCm39) S284N probably benign Het
Lipf T G 19: 33,954,076 (GRCm39) V389G possibly damaging Het
Lrrc7 C T 3: 157,908,132 (GRCm39) probably null Het
Magi1 A G 6: 93,657,768 (GRCm39) probably null Het
Mepce C T 5: 137,784,905 (GRCm39) probably benign Het
Mkrn1 A G 6: 39,382,691 (GRCm39) V173A probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Naip6 A G 13: 100,431,239 (GRCm39) probably null Het
Nsmce3 A T 7: 64,522,530 (GRCm39) L46Q probably benign Het
Or1n2 G A 2: 36,797,405 (GRCm39) C149Y probably benign Het
Or2j6 T G 7: 139,980,218 (GRCm39) Y247S probably damaging Het
Or4k44 A T 2: 111,368,280 (GRCm39) M118K probably damaging Het
Or51e2 A G 7: 102,391,808 (GRCm39) V134A probably damaging Het
Or56a3b T C 7: 104,771,513 (GRCm39) L283P probably damaging Het
Parp14 A G 16: 35,678,691 (GRCm39) F426L probably benign Het
Pcf11 A T 7: 92,306,737 (GRCm39) S1144T possibly damaging Het
Prpf3 T A 3: 95,758,976 (GRCm39) T59S possibly damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptk7 A G 17: 46,885,392 (GRCm39) V678A probably benign Het
Rb1 A G 14: 73,511,116 (GRCm39) L331S probably damaging Het
Relch A G 1: 105,646,584 (GRCm39) I637V probably benign Het
Sell A G 1: 163,893,042 (GRCm39) Y86C probably damaging Het
Serpina1e G A 12: 103,914,341 (GRCm39) R328W probably damaging Het
Sertad3 T G 7: 27,176,091 (GRCm39) L175R possibly damaging Het
Stard9 G T 2: 120,529,121 (GRCm39) G1793W probably damaging Het
Stra6 T C 9: 58,056,517 (GRCm39) I383T probably benign Het
Tcf7l1 A G 6: 72,626,161 (GRCm39) L154P probably damaging Het
Tent5c C A 3: 100,380,515 (GRCm39) L80F probably benign Het
Tonsl A T 15: 76,507,610 (GRCm39) D55E probably benign Het
Ttc21b A G 2: 66,057,257 (GRCm39) S572P possibly damaging Het
Ttc7 T A 17: 87,654,048 (GRCm39) L575Q probably damaging Het
Ubl4b C T 3: 107,462,194 (GRCm39) S22N probably damaging Het
Ubr4 T C 4: 139,163,502 (GRCm39) V2634A possibly damaging Het
Zbed6 A G 1: 133,584,778 (GRCm39) V853A probably benign Het
Zfp46 A C 4: 136,017,484 (GRCm39) D106A probably damaging Het
Zfp951 A C 5: 104,962,567 (GRCm39) I333S 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
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'- AGAATGCCCCAAGACTGCTG -3'
(R):5'- GAAGCTCCCTATTCCGGAAAATC -3'

Sequencing Primer
(F):5'- ACTGGTGACTACAGTCCACTTAATC -3'
(R):5'- TCACAAAGCAGGCCTCCTTG -3'
Posted On 2015-10-08