Incidental Mutation 'R3721:Srrm2'
ID 258933
Institutional Source Beutler Lab
Gene Symbol Srrm2
Ensembl Gene ENSMUSG00000039218
Gene Name serine/arginine repetitive matrix 2
Synonyms 5033413A03Rik, SRm300
MMRRC Submission 040712-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R3721 (G1)
Quality Score 208
Status Validated
Chromosome 17
Chromosomal Location 24009506-24043715 bp(+) (GRCm39)
Type of Mutation small deletion (3 aa in frame mutation)
DNA Base Change (assembly) CTCCTCTTCTTCCTCTTCTTCCTC to CTCCTCTTCTTCCTC at 24041549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069579] [ENSMUST00000088621] [ENSMUST00000190686]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069579
SMART Domains Protein: ENSMUSP00000066210
Gene: ENSMUSG00000055839

DomainStartEndE-ValueType
UBQ 3 80 5.1e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000088621
SMART Domains Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218

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 noncoding transcript
Transcript: ENSMUST00000175240
Predicted Effect probably benign
Transcript: ENSMUST00000186259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190568
Predicted Effect probably benign
Transcript: ENSMUST00000190686
SMART Domains Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a T C 2: 48,782,150 (GRCm39) S228P probably damaging Het
Adamts2 C T 11: 50,664,038 (GRCm39) probably benign Het
Arhgap9 A G 10: 127,164,840 (GRCm39) E588G possibly damaging Het
Ash2l C G 8: 26,308,653 (GRCm39) G453A probably damaging Het
Catsperg2 A G 7: 29,404,527 (GRCm39) V638A probably benign Het
Ccrl2 T C 9: 110,885,432 (GRCm39) D22G probably benign Het
Cdc73 T C 1: 143,571,191 (GRCm39) I83V possibly damaging Het
Ceacam23 A G 7: 17,636,663 (GRCm39) T247A probably benign Het
Clec2e C A 6: 129,071,373 (GRCm39) E155* probably null Het
Cyp3a59 T A 5: 146,033,407 (GRCm39) M181K probably damaging Het
Dars2 A T 1: 160,890,878 (GRCm39) V111E probably benign Het
Diras2 T A 13: 52,662,059 (GRCm39) I83F probably damaging Het
Dlg2 T A 7: 91,361,008 (GRCm39) probably null Het
Dnai1 G A 4: 41,602,615 (GRCm39) R113H probably damaging Het
Eeig2 C T 3: 108,887,083 (GRCm39) R305Q probably damaging Het
Emilin2 T C 17: 71,580,449 (GRCm39) N759S probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Ggnbp1 T C 17: 27,248,587 (GRCm39) V52A probably benign Het
Gpr171 A G 3: 59,005,091 (GRCm39) V228A possibly damaging Het
Gsta3 T C 1: 21,330,313 (GRCm39) M55T probably benign Het
Hectd3 T A 4: 116,856,942 (GRCm39) N496K probably benign Het
Hp1bp3 T G 4: 137,966,919 (GRCm39) F367V probably damaging Het
Il18rap T A 1: 40,576,248 (GRCm39) L253Q probably damaging Het
Irs1 C T 1: 82,267,806 (GRCm39) G137S probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lair1 A C 7: 4,013,782 (GRCm39) L155R probably damaging Het
Larp7 A G 3: 127,340,460 (GRCm39) L126P probably damaging Het
Lhx1 G A 11: 84,412,654 (GRCm39) R89C probably damaging Het
Lypd4 C A 7: 24,564,884 (GRCm39) A85S probably benign Het
Mei1 A G 15: 81,987,405 (GRCm39) H399R possibly damaging Het
Myh10 G T 11: 68,703,878 (GRCm39) R1863L probably damaging Het
Myo9a G A 9: 59,775,463 (GRCm39) V1025I probably benign Het
Naa25 T A 5: 121,569,619 (GRCm39) D659E probably benign Het
Nol9 A G 4: 152,124,163 (GRCm39) S118G probably benign Het
Or4k2 C T 14: 50,424,137 (GRCm39) C179Y probably damaging Het
Or5p72 G T 7: 108,022,326 (GRCm39) D183Y probably damaging Het
Pde10a T A 17: 9,188,421 (GRCm39) I907N probably damaging Het
Pkhd1 T C 1: 20,655,879 (GRCm39) D218G probably benign Het
Poll A G 19: 45,542,016 (GRCm39) I430T probably damaging Het
Pomgnt1 T G 4: 116,010,740 (GRCm39) probably benign Het
Rab6b T C 9: 103,044,373 (GRCm39) probably null Het
Rad1 T C 15: 10,488,112 (GRCm39) S79P probably benign Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Rcc1 T C 4: 132,065,125 (GRCm39) K133E possibly damaging Het
Ric8a T C 7: 140,441,874 (GRCm39) probably null Het
Rnf135 G T 11: 80,087,743 (GRCm39) A231S probably benign Het
Rps6ka4 A G 19: 6,816,645 (GRCm39) V146A possibly damaging Het
Sh3bp4 A G 1: 89,073,050 (GRCm39) I633V possibly damaging Het
Slc2a2 T A 3: 28,781,301 (GRCm39) N446K probably damaging Het
Slc44a1 T C 4: 53,491,445 (GRCm39) Y61H probably damaging Het
Slc7a1 G A 5: 148,272,343 (GRCm39) R445* probably null Het
Smc5 T C 19: 23,187,856 (GRCm39) M911V probably benign Het
Sntb1 C A 15: 55,506,214 (GRCm39) R453L probably benign Het
Spink4 T A 4: 40,929,136 (GRCm39) C54S probably damaging Het
Trpm1 T G 7: 63,867,475 (GRCm39) probably benign Het
Tufm T C 7: 126,089,632 (GRCm39) M442T probably benign Het
Ubn1 A G 16: 4,891,242 (GRCm39) N539S possibly 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
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'- TTCCCAGGGCTTTTCTCAGG -3'
(R):5'- TTTCTGGAGAACTCACCCCAAC -3'

Sequencing Primer
(F):5'- TTCCTCCAGGCCAAGGAAG -3'
(R):5'- CAGGTTTGGGTAATGCCT -3'
Posted On 2015-01-23