Incidental Mutation 'R4411:Srrm2'
ID 327940
Institutional Source Beutler Lab
Gene Symbol Srrm2
Ensembl Gene ENSMUSG00000039218
Gene Name serine/arginine repetitive matrix 2
Synonyms 5033413A03Rik, SRm300
MMRRC Submission 041693-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R4411 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 24009506-24043715 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 24029442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088621] [ENSMUST00000186961] [ENSMUST00000190686] [ENSMUST00000191385]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000088621
AA Change: K121E
SMART Domains Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218
AA Change: K121E

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: ENSMUST00000186961
SMART Domains Protein: ENSMUSP00000140813
Gene: ENSMUSG00000039218

DomainStartEndE-ValueType
cwf21 58 103 5.6e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190293
Predicted Effect unknown
Transcript: ENSMUST00000190686
AA Change: K217E
SMART Domains Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: K217E

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
Predicted Effect probably benign
Transcript: ENSMUST00000191385
Meta Mutation Damage Score 0.0850 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 95% (62/65)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,042,781 (GRCm39) I423V probably benign Het
Abl2 T C 1: 156,457,652 (GRCm39) V306A possibly damaging Het
Adcy4 T C 14: 56,006,900 (GRCm39) Y1006C probably damaging Het
Adprhl1 T C 8: 13,296,114 (GRCm39) K144E probably benign Het
Arid5b T C 10: 67,932,519 (GRCm39) R885G probably damaging Het
Atp9a A T 2: 168,503,853 (GRCm39) V613E probably damaging Het
Atxn7l1 G T 12: 33,244,886 (GRCm39) probably benign Het
Brd8 C A 18: 34,756,497 (GRCm39) probably benign Het
Bsnd C T 4: 106,343,868 (GRCm39) R146H probably benign Het
C4b C T 17: 34,947,838 (GRCm39) R1659H probably damaging Het
Duox1 G A 2: 122,168,115 (GRCm39) R1080H probably benign Het
Eml2 T C 7: 18,916,326 (GRCm39) probably null Het
Fbxo44 G A 4: 148,238,065 (GRCm39) R221C probably damaging Het
Frem1 T C 4: 82,881,481 (GRCm39) D166G probably damaging Het
Galnt5 T C 2: 57,889,207 (GRCm39) L269P probably benign Het
Gigyf2 A G 1: 87,364,582 (GRCm39) E954G probably damaging Het
Gpc6 T C 14: 118,188,590 (GRCm39) V408A probably benign Het
Hspg2 A G 4: 137,289,535 (GRCm39) T3832A probably benign Het
Ift88 A G 14: 57,715,436 (GRCm39) N493S probably damaging Het
Ighv1-76 A T 12: 115,811,731 (GRCm39) C41S probably damaging Het
Igkv12-46 G A 6: 69,741,930 (GRCm39) T16I probably benign Het
Igkv3-9 G T 6: 70,565,547 (GRCm39) V49F probably damaging Het
Isoc2b A T 7: 4,852,433 (GRCm39) probably benign Het
Lcp2 T A 11: 34,037,173 (GRCm39) probably benign Het
Lmntd1 A G 6: 145,373,003 (GRCm39) probably null Het
Mdm2 A T 10: 117,545,694 (GRCm39) probably null Het
Mrgprx3-ps T C 7: 46,959,746 (GRCm39) noncoding transcript Het
Msh2 T C 17: 88,025,032 (GRCm39) S637P probably damaging Het
Myo5b T C 18: 74,831,345 (GRCm39) F765S possibly damaging Het
Nav2 T A 7: 49,047,857 (GRCm39) N91K probably benign Het
Ndor1 G A 2: 25,138,492 (GRCm39) P363S probably benign Het
Npr3 G C 15: 11,905,235 (GRCm39) T164R probably benign Het
Pcdhb5 T C 18: 37,455,050 (GRCm39) S477P possibly damaging Het
Pde3b GTGATGATGATGATGATGATGATGATG GTGATGATGATGATGATGATGATG 7: 114,133,984 (GRCm39) probably benign Het
Pnpla7 G A 2: 24,941,716 (GRCm39) W13* probably null Het
Pnpla8 T C 12: 44,330,225 (GRCm39) V41A probably benign Het
Prdm2 A T 4: 142,860,240 (GRCm39) S1017T probably benign Het
Prdm5 T A 6: 65,878,771 (GRCm39) Y108* probably null Het
Rab34 T A 11: 78,079,592 (GRCm39) probably null Het
Skic3 A G 13: 76,275,623 (GRCm39) E410G possibly damaging Het
Smpd5 G T 15: 76,179,112 (GRCm39) R160L possibly damaging Het
Spmip10 A G 18: 56,727,720 (GRCm39) T65A probably benign Het
Taf5 T A 19: 47,059,453 (GRCm39) V199D probably damaging Het
Tas2r114 C T 6: 131,666,585 (GRCm39) V148I probably benign Het
Tas2r136 C A 6: 132,754,972 (GRCm39) V52L probably damaging Het
Tnfrsf25 G A 4: 152,202,843 (GRCm39) probably benign Het
Tpd52l1 T C 10: 31,255,315 (GRCm39) T11A possibly damaging Het
Trmt1l G A 1: 151,327,905 (GRCm39) E472K probably benign Het
Ttc17 T C 2: 94,173,098 (GRCm39) K766E probably damaging Het
Ttn C T 2: 76,560,633 (GRCm39) R29256Q probably damaging Het
Ttn T C 2: 76,572,414 (GRCm39) I26160V probably damaging Het
Ubxn6 A T 17: 56,376,303 (GRCm39) V311E probably damaging Het
Usp2 T C 9: 44,002,360 (GRCm39) S351P probably damaging Het
Usp7 C A 16: 8,526,778 (GRCm39) D187Y probably damaging Het
Vmn1r115 C T 7: 20,578,207 (GRCm39) R235K probably benign Het
Vmn2r50 A C 7: 9,784,235 (GRCm39) F80V probably damaging Het
Vmn2r58 T A 7: 41,511,360 (GRCm39) K481M possibly damaging Het
Vmn2r86 A G 10: 130,288,469 (GRCm39) I344T possibly damaging Het
Zfp455 A T 13: 67,355,389 (GRCm39) N219I 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
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'- TCATTGATTATGTAGCCCAGCC -3'
(R):5'- ACCCTTCAATTTAAGAGCTACCTC -3'

Sequencing Primer
(F):5'- AAAAGGAAGCAGTATTTTGGATTTG -3'
(R):5'- GAACTTCCACCTTAGCCAGAGGTG -3'
Posted On 2015-07-07