Incidental Mutation 'R8728:Srrm2'
ID 662609
Institutional Source Beutler Lab
Gene Symbol Srrm2
Ensembl Gene ENSMUSG00000039218
Gene Name serine/arginine repetitive matrix 2
Synonyms 5033413A03Rik, SRm300
MMRRC Submission 068576-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R8728 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24009506-24043715 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24038831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1825 (R1825Q)
Ref Sequence ENSEMBL: ENSMUSP00000085993 (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 unknown
Transcript: ENSMUST00000088621
AA Change: R1825Q
SMART Domains Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218
AA Change: R1825Q

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 unknown
Transcript: ENSMUST00000190686
AA Change: R1921Q
SMART Domains Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: R1921Q

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A G 14: 66,295,086 (GRCm39) L253P probably damaging Het
Adamts20 C T 15: 94,229,281 (GRCm39) G946D probably benign Het
Afdn A G 17: 14,119,207 (GRCm39) R1648G probably damaging Het
Ak9 G A 10: 41,282,959 (GRCm39) A1242T Het
Anxa9 T C 3: 95,209,979 (GRCm39) K127E probably damaging Het
Atp6v0a2 T C 5: 124,796,152 (GRCm39) S739P probably benign Het
Bloc1s6 A T 2: 122,588,026 (GRCm39) M122L possibly damaging Het
Bltp3b A T 10: 89,618,582 (GRCm39) M274L probably benign Het
Bms1 A G 6: 118,369,331 (GRCm39) I990T possibly damaging Het
Ccdc9b T C 2: 118,587,793 (GRCm39) T514A probably benign Het
Cdk14 G A 5: 5,470,117 (GRCm39) silent Het
Celsr3 T C 9: 108,723,940 (GRCm39) L2899S probably benign Het
Ces1b A T 8: 93,798,576 (GRCm39) D203E probably benign Het
Cnnm1 A G 19: 43,473,365 (GRCm39) N753S probably benign Het
Col19a1 C T 1: 24,365,113 (GRCm39) G501R probably damaging Het
Cym A G 3: 107,125,991 (GRCm39) F91L possibly damaging Het
Cyp2c67 T G 19: 39,614,605 (GRCm39) R307S probably damaging Het
Cyp3a59 G A 5: 146,035,122 (GRCm39) probably null Het
Cyp4a31 G A 4: 115,422,225 (GRCm39) E70K probably benign Het
Dagla G A 19: 10,225,771 (GRCm39) R798C probably damaging Het
Dcaf1 C T 9: 106,724,005 (GRCm39) R478C possibly damaging Het
Dcbld1 T C 10: 52,109,929 (GRCm39) L28P probably benign Het
Ddr2 T C 1: 169,829,552 (GRCm39) D234G possibly damaging Het
Fam83a T A 15: 57,873,062 (GRCm39) M297K possibly damaging Het
Galnt18 T A 7: 111,119,243 (GRCm39) D426V probably damaging Het
Gm29735 ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA 7: 141,710,266 (GRCm39) probably benign Het
Gm43302 T C 5: 105,438,793 (GRCm39) I32V probably benign Het
Gm9944 T C 4: 144,179,601 (GRCm39) Y96C unknown Het
Hdac1-ps A G 17: 78,800,332 (GRCm39) K441R probably benign Het
Impdh2 C T 9: 108,437,562 (GRCm39) probably benign Het
Iws1 G A 18: 32,216,334 (GRCm39) R358Q probably damaging Het
Kctd18 G T 1: 58,002,289 (GRCm39) D179E probably damaging Het
Krt13 T G 11: 100,012,318 (GRCm39) S2R probably null Het
Krt78 A T 15: 101,856,225 (GRCm39) S529T probably benign Het
Krtap4-7 C G 11: 99,534,788 (GRCm39) C25S unknown Het
Lama1 T C 17: 68,125,663 (GRCm39) I2940T Het
Lmnb2 A G 10: 80,740,913 (GRCm39) probably null Het
Lrrc27 A T 7: 138,822,555 (GRCm39) E482V probably damaging Het
Lrrc72 G A 12: 36,258,656 (GRCm39) T67M probably benign Het
Malrd1 T A 2: 15,701,753 (GRCm39) C789* probably null Het
Mei1 T G 15: 81,966,182 (GRCm39) V268G Het
Mical3 C A 6: 120,950,514 (GRCm39) A966S probably damaging Het
Mmp10 C T 9: 7,502,480 (GRCm39) P29L probably benign Het
Mroh2b T C 15: 4,935,122 (GRCm39) F186L probably damaging Het
Muc4 A T 16: 32,754,952 (GRCm38) T1609S unknown Het
Myrfl A T 10: 116,634,545 (GRCm39) C616* probably null Het
Ncor1 C T 11: 62,221,685 (GRCm39) A946T probably benign Het
Or10al6 C A 17: 38,082,642 (GRCm39) L33M probably damaging Het
Or2t48 T C 11: 58,420,027 (GRCm39) T262A probably benign Het
Pbp2 T C 6: 135,287,104 (GRCm39) Y81C probably benign Het
Plekhh1 C A 12: 79,115,862 (GRCm39) Q802K possibly damaging Het
Pnldc1 A T 17: 13,116,165 (GRCm39) F279Y probably damaging Het
Psmb5 A T 14: 54,855,261 (GRCm39) L63Q probably damaging Het
Rasa3 C T 8: 13,636,873 (GRCm39) probably null Het
Rbm4b G A 19: 4,812,219 (GRCm39) M209I probably benign Het
Rnf38 A G 4: 44,131,615 (GRCm39) S421P probably benign Het
Sema5a T C 15: 32,562,703 (GRCm39) V238A probably damaging Het
Sesn1 G T 10: 41,779,771 (GRCm39) G402W probably damaging Het
Six4 A G 12: 73,159,180 (GRCm39) V260A probably benign Het
Stat1 G A 1: 52,178,353 (GRCm39) W262* probably null Het
Tcf20 A T 15: 82,739,158 (GRCm39) D764E probably damaging Het
Tgm2 T C 2: 157,962,065 (GRCm39) N585D probably benign Het
Tmf1 A T 6: 97,133,821 (GRCm39) L1039H probably damaging Het
Trak2 A G 1: 58,974,934 (GRCm39) V86A probably benign Het
Ttc39b A G 4: 83,171,247 (GRCm39) I202T probably damaging Het
Vmn1r30 A G 6: 58,412,460 (GRCm39) F124S probably benign Het
Vwa7 T A 17: 35,236,133 (GRCm39) F29Y probably damaging Het
Wdr64 A T 1: 175,559,079 (GRCm39) M281L probably benign Het
Zfand2a C T 5: 139,467,753 (GRCm39) V40M possibly damaging Het
Zfp865 G C 7: 5,034,819 (GRCm39) A935P 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
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
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'- TCACCTGTGAGTAGGAGACG -3'
(R):5'- TCCGAGACCTAGATCGTCTTC -3'

Sequencing Primer
(F):5'- TCAGTGAATAGGCGTAGATCTCGATC -3'
(R):5'- CGTCTTCGAATTGCTGGCG -3'
Posted On 2021-03-08