Incidental Mutation 'R2156:Srrm2'
ID 234862
Institutional Source Beutler Lab
Gene Symbol Srrm2
Ensembl Gene ENSMUSG00000039218
Gene Name serine/arginine repetitive matrix 2
Synonyms 5033413A03Rik, SRm300
MMRRC Submission 040159-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R2156 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24009506-24043715 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24037237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1390 (T1390A)
Ref Sequence ENSEMBL: ENSMUSP00000139842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088621] [ENSMUST00000190686]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000088621
AA Change: T1294A

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218
AA Change: T1294A

DomainStartEndE-ValueType
low complexity region 82 157 N/A INTRINSIC
low complexity region 161 188 N/A INTRINSIC
low complexity region 223 238 N/A INTRINSIC
internal_repeat_4 248 305 2.93e-5 PROSPERO
internal_repeat_5 259 388 2.93e-5 PROSPERO
low complexity region 407 423 N/A INTRINSIC
CTD 464 584 5.25e-14 SMART
low complexity region 652 682 N/A INTRINSIC
low complexity region 689 721 N/A INTRINSIC
internal_repeat_6 732 778 4.88e-5 PROSPERO
low complexity region 779 795 N/A INTRINSIC
low complexity region 802 824 N/A INTRINSIC
low complexity region 839 853 N/A INTRINSIC
internal_repeat_2 859 1124 6.34e-6 PROSPERO
internal_repeat_1 1055 1183 3.81e-6 PROSPERO
internal_repeat_4 1113 1166 2.93e-5 PROSPERO
internal_repeat_6 1169 1213 4.88e-5 PROSPERO
low complexity region 1236 1244 N/A INTRINSIC
low complexity region 1275 1286 N/A INTRINSIC
low complexity region 1290 1312 N/A INTRINSIC
internal_repeat_2 1313 1485 6.34e-6 PROSPERO
low complexity region 1493 1525 N/A INTRINSIC
low complexity region 1545 1555 N/A INTRINSIC
low complexity region 1559 1720 N/A INTRINSIC
low complexity region 1734 1919 N/A INTRINSIC
low complexity region 1926 1951 N/A INTRINSIC
low complexity region 1966 1980 N/A INTRINSIC
low complexity region 2079 2105 N/A INTRINSIC
internal_repeat_3 2107 2118 1.06e-5 PROSPERO
internal_repeat_3 2135 2146 1.06e-5 PROSPERO
low complexity region 2153 2172 N/A INTRINSIC
internal_repeat_5 2182 2320 2.93e-5 PROSPERO
internal_repeat_1 2224 2368 3.81e-6 PROSPERO
low complexity region 2390 2425 N/A INTRINSIC
low complexity region 2518 2539 N/A INTRINSIC
low complexity region 2541 2550 N/A INTRINSIC
low complexity region 2552 2571 N/A INTRINSIC
low complexity region 2594 2607 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189977
Predicted Effect probably benign
Transcript: ENSMUST00000190686
AA Change: T1390A

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: T1390A

DomainStartEndE-ValueType
Pfam:cwf21 58 102 1.5e-13 PFAM
low complexity region 178 253 N/A INTRINSIC
low complexity region 257 284 N/A INTRINSIC
low complexity region 319 334 N/A INTRINSIC
internal_repeat_4 344 401 3.07e-5 PROSPERO
internal_repeat_5 355 484 3.07e-5 PROSPERO
low complexity region 503 519 N/A INTRINSIC
CTD 560 680 5.25e-14 SMART
low complexity region 748 778 N/A INTRINSIC
low complexity region 785 817 N/A INTRINSIC
internal_repeat_6 828 874 5.11e-5 PROSPERO
low complexity region 875 891 N/A INTRINSIC
low complexity region 898 920 N/A INTRINSIC
low complexity region 935 949 N/A INTRINSIC
internal_repeat_2 955 1220 6.62e-6 PROSPERO
internal_repeat_1 1151 1279 3.97e-6 PROSPERO
internal_repeat_4 1209 1262 3.07e-5 PROSPERO
internal_repeat_6 1265 1309 5.11e-5 PROSPERO
low complexity region 1332 1340 N/A INTRINSIC
low complexity region 1371 1382 N/A INTRINSIC
low complexity region 1386 1408 N/A INTRINSIC
internal_repeat_2 1409 1581 6.62e-6 PROSPERO
low complexity region 1589 1621 N/A INTRINSIC
low complexity region 1641 1651 N/A INTRINSIC
low complexity region 1655 1816 N/A INTRINSIC
low complexity region 1830 2015 N/A INTRINSIC
low complexity region 2022 2047 N/A INTRINSIC
low complexity region 2062 2076 N/A INTRINSIC
low complexity region 2175 2201 N/A INTRINSIC
internal_repeat_3 2203 2214 1.1e-5 PROSPERO
internal_repeat_3 2231 2242 1.1e-5 PROSPERO
low complexity region 2249 2268 N/A INTRINSIC
internal_repeat_5 2278 2416 3.07e-5 PROSPERO
internal_repeat_1 2320 2464 3.97e-6 PROSPERO
low complexity region 2486 2521 N/A INTRINSIC
low complexity region 2614 2635 N/A INTRINSIC
low complexity region 2637 2646 N/A INTRINSIC
low complexity region 2648 2667 N/A INTRINSIC
low complexity region 2690 2703 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T A 11: 58,313,134 (GRCm39) probably null Het
Acaa2 T C 18: 74,926,476 (GRCm39) probably null Het
Adam7 T C 14: 68,748,792 (GRCm39) Q485R probably benign Het
Adcy4 T G 14: 56,006,627 (GRCm39) T1069P probably benign Het
Arsj T C 3: 126,232,337 (GRCm39) L361P probably damaging Het
Birc2 A C 9: 7,826,939 (GRCm39) L349R probably damaging Het
C1qa T C 4: 136,623,727 (GRCm39) Y159C probably damaging Het
Cdh13 A G 8: 119,963,703 (GRCm39) K428E probably damaging Het
Cenpe T C 3: 134,953,235 (GRCm39) M1563T probably benign Het
Col10a1 T C 10: 34,271,696 (GRCm39) V556A probably benign Het
Creg2 G A 1: 39,662,338 (GRCm39) L265F probably damaging Het
Cyp1a2 T A 9: 57,589,433 (GRCm39) D127V probably damaging Het
Cyp3a44 A T 5: 145,740,480 (GRCm39) Y53* probably null Het
Cyth1 C T 11: 118,073,634 (GRCm39) R233Q probably damaging Het
Dnmbp G A 19: 43,890,346 (GRCm39) H474Y possibly damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Ercc2 G A 7: 19,120,717 (GRCm39) R206H possibly damaging Het
Evx2 T A 2: 74,486,360 (GRCm39) H343L probably damaging Het
Fcrl2 T A 3: 87,164,648 (GRCm39) I293F probably benign Het
Gcnt4 A G 13: 97,082,974 (GRCm39) E90G probably damaging Het
Gid8 T G 2: 180,358,751 (GRCm39) C139G probably benign Het
Gm11938 C A 11: 99,493,933 (GRCm39) C54F probably damaging Het
Gm3336 G A 8: 71,174,509 (GRCm39) V158I probably benign Het
Gucy1b1 T C 3: 81,968,327 (GRCm39) N60D probably benign Het
Hdac7 T C 15: 97,691,944 (GRCm39) K810E probably benign Het
Hsp90ab1 A G 17: 45,880,629 (GRCm39) F361L possibly damaging Het
Igf2bp3 A T 6: 49,085,858 (GRCm39) probably null Het
Inpp4b T A 8: 82,775,118 (GRCm39) I772N probably damaging Het
Iqca1 A G 1: 90,017,238 (GRCm39) L390P possibly damaging Het
Itgb2 C T 10: 77,396,082 (GRCm39) R586W probably benign Het
Itih1 A G 14: 30,655,432 (GRCm39) S588P possibly damaging Het
Iyd T A 10: 3,497,166 (GRCm39) probably null Het
Kl A G 5: 150,912,425 (GRCm39) K725E probably benign Het
Layn T A 9: 50,968,697 (GRCm39) M349L probably benign Het
Map3k5 T C 10: 19,900,683 (GRCm39) Y286H probably damaging Het
Med4 C T 14: 73,755,472 (GRCm39) probably benign Het
Mfn1 T A 3: 32,588,400 (GRCm39) N42K possibly damaging Het
Mindy2 T C 9: 70,563,874 (GRCm39) D152G probably benign Het
Mrc2 A G 11: 105,238,682 (GRCm39) probably null Het
Mrpl11 C A 19: 5,012,497 (GRCm39) A26E probably damaging Het
Msh6 G A 17: 88,293,568 (GRCm39) W774* probably null Het
Mtch1 A T 17: 29,561,841 (GRCm39) V121E probably damaging Het
Mtg2 G T 2: 179,725,923 (GRCm39) E178* probably null Het
Nbas A T 12: 13,491,510 (GRCm39) N1461Y probably damaging Het
Ndfip2 A G 14: 105,525,204 (GRCm39) T65A probably benign Het
Ninl G T 2: 150,786,503 (GRCm39) Q1146K probably damaging Het
Notch1 T C 2: 26,350,873 (GRCm39) D2089G possibly damaging Het
Notch3 C T 17: 32,366,818 (GRCm39) V906M probably damaging Het
Or51l14 A G 7: 103,101,371 (GRCm39) I276V probably benign Het
Or6b6 A G 7: 106,570,775 (GRCm39) Y259H probably damaging Het
Osmr A T 15: 6,873,891 (GRCm39) Y169N probably benign Het
Ovgp1 T C 3: 105,885,033 (GRCm39) V124A possibly damaging Het
P2rx1 T C 11: 72,904,939 (GRCm39) M369T probably benign Het
Pde4dip T C 3: 97,631,534 (GRCm39) Q1125R probably damaging Het
Podn A T 4: 107,878,892 (GRCm39) V180E probably damaging Het
Pold1 A T 7: 44,188,542 (GRCm39) V475E probably damaging Het
Polg A G 7: 79,111,468 (GRCm39) I261T possibly damaging Het
Satb1 G T 17: 52,047,438 (GRCm39) Q595K probably benign Het
Scaf8 T A 17: 3,214,407 (GRCm39) probably null Het
Semp2l1 T A 1: 32,585,128 (GRCm39) M261L probably benign Het
Serpinb3a C T 1: 106,975,202 (GRCm39) probably null Het
Slc22a26 T C 19: 7,779,480 (GRCm39) D112G probably damaging Het
Slc25a23 A G 17: 57,352,562 (GRCm39) F441L probably benign Het
Slc25a53 T C X: 135,884,216 (GRCm39) T42A probably damaging Het
Slc6a15 T C 10: 103,229,269 (GRCm39) Y103H probably damaging Het
Slx4 A G 16: 3,804,223 (GRCm39) S864P probably benign Het
Snap91 T C 9: 86,707,130 (GRCm39) E220G probably damaging Het
Spam1 T C 6: 24,796,267 (GRCm39) F73L probably damaging Het
Sphkap C T 1: 83,255,710 (GRCm39) V393M probably benign Het
Spred2 T C 11: 19,971,241 (GRCm39) Y370H probably damaging Het
Sqle T C 15: 59,195,578 (GRCm39) probably null Het
Tas1r2 A G 4: 139,396,352 (GRCm39) R564G possibly damaging Het
Tbl2 G T 5: 135,185,374 (GRCm39) probably null Het
Tcof1 T C 18: 60,964,901 (GRCm39) D606G possibly damaging Het
Tdpoz3 T A 3: 93,734,087 (GRCm39) L254H probably damaging Het
Trpm1 A T 7: 63,884,736 (GRCm39) I806F probably damaging Het
Ttc22 A G 4: 106,496,237 (GRCm39) D429G probably benign Het
Ube2o C A 11: 116,471,972 (GRCm39) G90C probably damaging Het
Usp34 T A 11: 23,332,602 (GRCm39) F1110I probably damaging Het
Vmn2r82 T C 10: 79,214,722 (GRCm39) L235P probably damaging Het
Vps35 A G 8: 86,013,129 (GRCm39) V116A probably benign Het
Wdfy3 A G 5: 102,046,291 (GRCm39) probably null Het
Zeb2 T C 2: 44,878,821 (GRCm39) K1138E probably benign Het
Zfp513 G A 5: 31,357,866 (GRCm39) T169I probably benign Het
Zfp629 T C 7: 127,211,551 (GRCm39) D86G probably benign Het
Other mutations in Srrm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Srrm2 APN 17 24,031,452 (GRCm39) missense probably benign 0.23
IGL00484:Srrm2 APN 17 24,037,492 (GRCm39) missense probably benign 0.23
IGL01413:Srrm2 APN 17 24,034,999 (GRCm39) unclassified probably benign
IGL02272:Srrm2 APN 17 24,034,756 (GRCm39) unclassified probably benign
IGL02279:Srrm2 APN 17 24,034,306 (GRCm39) unclassified probably benign
IGL02325:Srrm2 APN 17 24,029,453 (GRCm39) unclassified probably benign
IGL02947:Srrm2 APN 17 24,029,720 (GRCm39) missense probably benign 0.23
IGL03002:Srrm2 APN 17 24,034,708 (GRCm39) unclassified probably benign
BB009:Srrm2 UTSW 17 24,037,501 (GRCm39) missense probably benign 0.23
BB019:Srrm2 UTSW 17 24,037,501 (GRCm39) missense probably benign 0.23
R0173:Srrm2 UTSW 17 24,034,103 (GRCm39) unclassified probably benign
R1018:Srrm2 UTSW 17 24,041,514 (GRCm39) missense probably damaging 0.98
R1109:Srrm2 UTSW 17 24,038,591 (GRCm39) unclassified probably benign
R1199:Srrm2 UTSW 17 24,036,725 (GRCm39) unclassified probably benign
R1471:Srrm2 UTSW 17 24,039,770 (GRCm39) missense probably damaging 1.00
R1478:Srrm2 UTSW 17 24,034,876 (GRCm39) missense probably benign 0.23
R1618:Srrm2 UTSW 17 24,037,906 (GRCm39) unclassified probably benign
R1678:Srrm2 UTSW 17 24,037,960 (GRCm39) missense probably benign 0.23
R1853:Srrm2 UTSW 17 24,039,499 (GRCm39) missense probably damaging 1.00
R1968:Srrm2 UTSW 17 24,040,465 (GRCm39) missense probably damaging 1.00
R2094:Srrm2 UTSW 17 24,031,403 (GRCm39) unclassified probably benign
R2102:Srrm2 UTSW 17 24,036,722 (GRCm39) unclassified probably benign
R2214:Srrm2 UTSW 17 24,035,719 (GRCm39) unclassified probably benign
R2913:Srrm2 UTSW 17 24,034,658 (GRCm39) unclassified probably benign
R3721:Srrm2 UTSW 17 24,041,549 (GRCm39) small deletion probably benign
R4411:Srrm2 UTSW 17 24,029,442 (GRCm39) unclassified probably benign
R4412:Srrm2 UTSW 17 24,029,442 (GRCm39) unclassified probably benign
R4413:Srrm2 UTSW 17 24,029,442 (GRCm39) unclassified probably benign
R4583:Srrm2 UTSW 17 24,038,593 (GRCm39) unclassified probably benign
R4682:Srrm2 UTSW 17 24,034,666 (GRCm39) missense probably benign 0.23
R4910:Srrm2 UTSW 17 24,034,362 (GRCm39) unclassified probably benign
R4943:Srrm2 UTSW 17 24,041,389 (GRCm39) missense possibly damaging 0.94
R5023:Srrm2 UTSW 17 24,038,291 (GRCm39) unclassified probably benign
R5033:Srrm2 UTSW 17 24,039,592 (GRCm39) missense probably damaging 1.00
R5163:Srrm2 UTSW 17 24,038,524 (GRCm39) unclassified probably benign
R5186:Srrm2 UTSW 17 24,035,561 (GRCm39) missense probably benign 0.23
R5197:Srrm2 UTSW 17 24,036,358 (GRCm39) missense probably benign 0.23
R5366:Srrm2 UTSW 17 24,037,678 (GRCm39) missense probably benign 0.23
R5483:Srrm2 UTSW 17 24,040,246 (GRCm39) missense probably damaging 0.96
R5551:Srrm2 UTSW 17 24,037,450 (GRCm39) unclassified probably benign
R5602:Srrm2 UTSW 17 24,038,311 (GRCm39) unclassified probably benign
R5733:Srrm2 UTSW 17 24,040,360 (GRCm39) missense probably damaging 0.98
R5774:Srrm2 UTSW 17 24,037,249 (GRCm39) unclassified probably benign
R5909:Srrm2 UTSW 17 24,040,291 (GRCm39) missense probably benign 0.27
R5961:Srrm2 UTSW 17 24,039,083 (GRCm39) unclassified probably benign
R6122:Srrm2 UTSW 17 24,039,330 (GRCm39) missense possibly damaging 0.58
R6906:Srrm2 UTSW 17 24,039,337 (GRCm39) missense probably damaging 0.97
R7084:Srrm2 UTSW 17 24,039,290 (GRCm39) missense probably damaging 0.99
R7177:Srrm2 UTSW 17 24,035,747 (GRCm39) missense unknown
R7197:Srrm2 UTSW 17 24,037,198 (GRCm39) missense unknown
R7442:Srrm2 UTSW 17 24,039,091 (GRCm39) missense unknown
R7644:Srrm2 UTSW 17 24,038,294 (GRCm39) missense unknown
R7664:Srrm2 UTSW 17 24,039,955 (GRCm39) missense probably damaging 0.99
R7874:Srrm2 UTSW 17 24,034,652 (GRCm39) missense unknown
R7932:Srrm2 UTSW 17 24,037,501 (GRCm39) missense probably benign 0.23
R7950:Srrm2 UTSW 17 24,027,084 (GRCm39) missense unknown
R7958:Srrm2 UTSW 17 24,040,286 (GRCm39) missense probably benign 0.25
R8081:Srrm2 UTSW 17 24,039,219 (GRCm39) missense probably damaging 1.00
R8118:Srrm2 UTSW 17 24,027,057 (GRCm39) missense unknown
R8174:Srrm2 UTSW 17 24,034,297 (GRCm39) missense unknown
R8191:Srrm2 UTSW 17 24,039,219 (GRCm39) missense probably damaging 1.00
R8334:Srrm2 UTSW 17 24,027,330 (GRCm39) missense unknown
R8523:Srrm2 UTSW 17 24,027,489 (GRCm39) unclassified probably benign
R8728:Srrm2 UTSW 17 24,038,831 (GRCm39) missense unknown
R8912:Srrm2 UTSW 17 24,038,575 (GRCm39) missense probably benign 0.23
R9209:Srrm2 UTSW 17 24,039,880 (GRCm39) missense probably benign 0.05
RF006:Srrm2 UTSW 17 24,031,562 (GRCm39) missense unknown
Z1176:Srrm2 UTSW 17 24,036,157 (GRCm39) missense unknown
Z1177:Srrm2 UTSW 17 24,036,484 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ATCTGTGGACATGAAAGAACAGTC -3'
(R):5'- TGATGGAGAATGACTTCGGGC -3'

Sequencing Primer
(F):5'- GAACAGTCAAGGTCTTCCAGGC -3'
(R):5'- CTCTAGGAGTCTGAGGCAATGC -3'
Posted On 2014-10-01