Incidental Mutation 'R5186:Srrm2'
ID 397917
Institutional Source Beutler Lab
Gene Symbol Srrm2
Ensembl Gene ENSMUSG00000039218
Gene Name serine/arginine repetitive matrix 2
Synonyms 5033413A03Rik, SRm300
MMRRC Submission 042765-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R5186 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24009506-24043715 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24035561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 831 (T831I)
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: T735I

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218
AA Change: T735I

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: ENSMUST00000186045
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: T831I

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: T831I

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: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,982,425 (GRCm39) I6V probably null Het
Aox1 A G 1: 58,107,529 (GRCm39) D601G probably damaging Het
Asic1 GCACC GCACCACC 15: 99,596,684 (GRCm39) probably benign Het
Cacna1g T G 11: 94,333,674 (GRCm39) N931T probably damaging Het
Ccdc14 T C 16: 34,541,955 (GRCm39) F511L probably damaging Het
Cd177 T A 7: 24,444,348 (GRCm39) E710V probably benign Het
Cep112 T C 11: 108,643,386 (GRCm39) C49R probably benign Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Dnah2 T C 11: 69,326,710 (GRCm39) N3575S probably damaging Het
Dnah6 T A 6: 73,044,410 (GRCm39) I3234F probably damaging Het
Eci3 G T 13: 35,130,961 (GRCm39) A302E possibly damaging Het
Fam204a T C 19: 60,188,421 (GRCm39) K214E probably damaging Het
Fam78a T C 2: 31,972,666 (GRCm39) T85A possibly damaging Het
Flnb T C 14: 7,909,748 (GRCm38) Y1401H probably damaging Het
Foxl2 A T 9: 98,838,108 (GRCm39) D132V probably damaging Het
Frs2 C A 10: 116,914,747 (GRCm39) W57C probably damaging Het
Gm26558 G T 2: 70,491,761 (GRCm39) probably benign Het
Gpr139 A G 7: 118,744,063 (GRCm39) V174A probably benign Het
Grik5 T C 7: 24,715,244 (GRCm39) T676A probably damaging Het
H60c T C 10: 3,209,273 (GRCm39) probably null Het
Hspa1l A G 17: 35,197,445 (GRCm39) K495E probably damaging Het
Irgm1 C T 11: 48,757,044 (GRCm39) V256I probably benign Het
Kat7 T A 11: 95,177,242 (GRCm39) T293S probably benign Het
Lipg C T 18: 75,094,009 (GRCm39) V13I probably benign Het
Lrrn1 A T 6: 107,546,185 (GRCm39) Y661F probably damaging Het
Mllt3 A G 4: 87,759,232 (GRCm39) V272A probably benign Het
Mx1 G A 16: 97,256,694 (GRCm39) R162C probably benign Het
Myo18b T A 5: 113,019,336 (GRCm39) D647V probably damaging Het
Naf1 G A 8: 67,332,298 (GRCm39) V329I probably benign Het
Or4k40 A T 2: 111,251,119 (GRCm39) M59K probably damaging Het
Or52u1 A T 7: 104,237,418 (GRCm39) I153F probably damaging Het
Or8g22 A T 9: 38,958,265 (GRCm39) C194* probably null Het
P2rx5 G A 11: 73,062,616 (GRCm39) V442M possibly damaging Het
Pcdhb9 A G 18: 37,534,285 (GRCm39) E93G probably damaging Het
Pcdhga4 A T 18: 37,820,479 (GRCm39) N676I probably benign Het
Pgm5 A G 19: 24,797,492 (GRCm39) M230T probably damaging Het
Pik3c2g T C 6: 139,599,016 (GRCm39) V44A probably damaging Het
Pp2d1 T C 17: 53,815,168 (GRCm39) M519V probably benign Het
Ppp1r10 A G 17: 36,239,403 (GRCm39) E404G probably damaging Het
Prpf8 A T 11: 75,380,609 (GRCm39) E104V possibly damaging Het
Ptpra T C 2: 30,328,367 (GRCm39) probably null Het
Pygl A C 12: 70,248,118 (GRCm39) N248K probably damaging Het
Rbm8a A G 3: 96,538,248 (GRCm39) D102G probably damaging Het
Sema3d A G 5: 12,634,875 (GRCm39) D647G probably benign Het
Serpinb11 A T 1: 107,307,484 (GRCm39) D305V probably damaging Het
Slc12a8 T C 16: 33,437,578 (GRCm39) I337T probably damaging Het
Slc29a2 G A 19: 5,078,995 (GRCm39) R286Q probably benign Het
Slc2a3 T A 6: 122,712,542 (GRCm39) D234V probably damaging Het
Slco4a1 T C 2: 180,114,901 (GRCm39) V608A probably damaging Het
Spata31d1e A T 13: 59,891,553 (GRCm39) L89H probably damaging Het
St18 T A 1: 6,872,541 (GRCm39) probably null Het
Tesk2 G C 4: 116,599,093 (GRCm39) G67A probably damaging Het
Tlr1 A T 5: 65,082,564 (GRCm39) L671H probably damaging Het
Tmem63b A T 17: 45,972,403 (GRCm39) Y735N possibly damaging Het
Tmprss11a C T 5: 86,567,938 (GRCm39) C263Y probably damaging Het
Trio A T 15: 27,898,077 (GRCm39) V345E probably damaging Het
Tut7 A G 13: 59,964,470 (GRCm39) probably null Het
Ubr5 A G 15: 37,998,160 (GRCm39) S1674P probably damaging Het
Uchl3 T A 14: 101,933,353 (GRCm39) C209S probably damaging Het
Uhmk1 T C 1: 170,038,736 (GRCm39) N206S probably damaging Het
Uhrf1 C T 17: 56,625,340 (GRCm39) R588W probably damaging Het
Usp28 T C 9: 48,921,550 (GRCm39) V256A probably damaging Het
Utrn C A 10: 12,604,521 (GRCm39) L552F probably damaging Het
Vmn1r55 A T 7: 5,149,985 (GRCm39) M146K probably damaging Het
Vmn1r57 A C 7: 5,224,107 (GRCm39) I211L probably benign Het
Zar1 C T 5: 72,734,742 (GRCm39) C316Y probably damaging Het
Zc3h11a A T 1: 133,549,412 (GRCm39) S750T probably damaging Het
Zfp366 G A 13: 99,382,676 (GRCm39) C613Y probably benign Het
Zfp37 A T 4: 62,109,493 (GRCm39) C524S probably damaging Het
Zfp516 T C 18: 82,975,218 (GRCm39) V472A probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zic1 T C 9: 91,246,424 (GRCm39) Y216C probably damaging 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
R2156:Srrm2 UTSW 17 24,037,237 (GRCm39) missense probably benign 0.23
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
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'- AGACGGAGCAGGTCTCTTTC -3'
(R):5'- AGATGACGACCTAGATGGGC -3'

Sequencing Primer
(F):5'- ACGGAGCAGGTCTCTTTCTTCAC -3'
(R):5'- ACGACCTAGATGGGCTCTGTC -3'
Posted On 2016-07-06