Incidental Mutation 'R8334:Srrm2'
ID 644549
Institutional Source Beutler Lab
Gene Symbol Srrm2
Ensembl Gene ENSMUSG00000039218
Gene Name serine/arginine repetitive matrix 2
Synonyms 5033413A03Rik, SRm300
MMRRC Submission 067862-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R8334 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24009506-24043715 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24027330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 22 (V22A)
Ref Sequence ENSEMBL: ENSMUSP00000085993 (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: V22A
SMART Domains Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218
AA Change: V22A

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 unknown
Transcript: ENSMUST00000186961
AA Change: V118A
SMART Domains Protein: ENSMUSP00000140813
Gene: ENSMUSG00000039218
AA Change: V118A

DomainStartEndE-ValueType
cwf21 58 103 5.6e-18 SMART
Predicted Effect unknown
Transcript: ENSMUST00000190686
AA Change: V118A
SMART Domains Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: V118A

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 unknown
Transcript: ENSMUST00000191385
AA Change: V22A
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (63/64)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,959,650 (GRCm39) S696T probably damaging Het
Abhd12 T C 2: 150,700,373 (GRCm39) I75V probably benign Het
Adamts9 T C 6: 92,914,225 (GRCm39) probably null Het
Ap2a1 C T 7: 44,554,135 (GRCm39) V499I possibly damaging Het
Arhgef16 T A 4: 154,367,224 (GRCm39) K394* probably null Het
Armc2 A G 10: 41,799,761 (GRCm39) F699S probably damaging Het
Atat1 C T 17: 36,220,150 (GRCm39) probably null Het
Atm A G 9: 53,433,573 (GRCm39) S226P probably benign Het
Bcas3 A G 11: 85,467,637 (GRCm39) T687A possibly damaging Het
Bmp2k T C 5: 97,175,753 (GRCm39) M78T possibly damaging Het
Brinp3 T A 1: 146,777,791 (GRCm39) L746H probably damaging Het
Capn8 G A 1: 182,438,670 (GRCm39) probably null Het
Ccdc154 T A 17: 25,390,581 (GRCm39) F602I probably damaging Het
Celsr3 CGGGG CGGGGG 9: 108,718,471 (GRCm39) probably null Het
Chd3 A G 11: 69,241,622 (GRCm39) F1504L probably damaging Het
Cpsf1 A T 15: 76,487,787 (GRCm39) N77K probably benign Het
Crybb3 T A 5: 113,223,845 (GRCm39) Q188L possibly damaging Het
Dnah8 T A 17: 30,988,805 (GRCm39) H3258Q probably benign Het
Dnajb6 C T 5: 29,986,238 (GRCm39) R269W unknown Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Ech1 A G 7: 28,531,248 (GRCm39) I279V probably benign Het
Ehbp1 C A 11: 21,957,170 (GRCm39) R1173L probably damaging Het
Ehd4 T C 2: 119,967,545 (GRCm39) E83G probably damaging Het
Epha7 A G 4: 28,938,777 (GRCm39) E544G probably benign Het
Esp23 A G 17: 39,384,795 (GRCm39) V67A possibly damaging Het
Etl4 T C 2: 20,785,857 (GRCm39) V726A probably damaging Het
Fbxo39 G A 11: 72,208,470 (GRCm39) W274* probably null Het
Filip1l T C 16: 57,390,510 (GRCm39) I366T probably benign Het
Gm4841 T C 18: 60,404,054 (GRCm39) D13G probably benign Het
Gtpbp2 T A 17: 46,477,368 (GRCm39) F411Y possibly damaging Het
Kmt5b G T 19: 3,864,795 (GRCm39) V620L probably benign Het
Lrrc24 T C 15: 76,600,200 (GRCm39) Q313R probably benign Het
Lsm1 A G 8: 26,292,047 (GRCm39) E108G probably benign Het
Macf1 T C 4: 123,325,901 (GRCm39) K5201E possibly damaging Het
Matcap2 A G 9: 22,355,414 (GRCm39) E483G probably benign Het
Mettl25b C T 3: 87,835,056 (GRCm39) V31I possibly damaging Het
Mki67 G T 7: 135,298,245 (GRCm39) T2263K probably damaging Het
Mroh1 G A 15: 76,330,756 (GRCm39) G1156S probably benign Het
Ncor1 A T 11: 62,274,070 (GRCm39) M190K probably damaging Het
Nsmce3 A G 7: 64,522,467 (GRCm39) V67A probably damaging Het
Nuggc T C 14: 65,882,478 (GRCm39) V741A probably benign Het
Olfm3 G T 3: 114,916,206 (GRCm39) L379F probably damaging Het
Or4x13 T C 2: 90,231,277 (GRCm39) S91P probably benign Het
Or8g21 T A 9: 38,905,889 (GRCm39) I281F probably benign Het
Pcdhb13 A G 18: 37,577,853 (GRCm39) T744A probably damaging Het
Plek T C 11: 16,933,220 (GRCm39) T298A probably benign Het
Pou5f2 A G 13: 78,173,392 (GRCm39) I111M probably benign Het
Pou6f2 C T 13: 18,299,991 (GRCm39) R556H probably damaging Het
Pramel58 T G 5: 94,830,635 (GRCm39) N44K probably benign Het
Rcor1 G A 12: 111,059,529 (GRCm39) A148T Het
Rnh1 A G 7: 140,748,544 (GRCm39) V11A probably benign Het
Slc35f1 T C 10: 52,984,244 (GRCm39) F335L possibly damaging Het
St7 A T 6: 17,934,220 (GRCm39) H534L probably damaging Het
Swi5 T A 2: 32,170,463 (GRCm39) probably benign Het
Syf2 T A 4: 134,658,586 (GRCm39) H40Q probably benign Het
Tgtp2 G A 11: 48,949,721 (GRCm39) L284F probably benign Het
Tnn C T 1: 159,946,053 (GRCm39) G922R probably damaging Het
Trbc1 A C 6: 41,516,046 (GRCm39) probably benign Het
Trim33 A T 3: 103,261,145 (GRCm39) T1115S probably benign Het
Ttc22 C A 4: 106,496,115 (GRCm39) probably null Het
Ttn C T 2: 76,638,374 (GRCm39) A13969T probably damaging Het
Tuba4a T C 1: 75,193,945 (GRCm39) D74G probably benign Het
Ube3c T A 5: 29,795,882 (GRCm39) D90E probably benign Het
Ubr7 T C 12: 102,724,397 (GRCm39) V37A probably damaging Het
Vmn2r28 A C 7: 5,487,059 (GRCm39) C535G probably damaging Het
Wdr36 A G 18: 32,992,346 (GRCm39) T628A possibly damaging Het
Whrn C T 4: 63,413,047 (GRCm39) V142M probably damaging Het
Wnk2 A T 13: 49,203,958 (GRCm39) probably null Het
Xkr7 C T 2: 152,896,883 (GRCm39) T579I 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
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'- TTGCTGGAAAAGGATGTGAACC -3'
(R):5'- AGGCCTTTCTCCTGAGTACC -3'

Sequencing Primer
(F):5'- ATGTGAACCCTGGGGCCAAG -3'
(R):5'- GGCCTTTCTCCTGAGTACCTGTATG -3'
Posted On 2020-09-02