Incidental Mutation 'IGL03268:Rsrc2'
ID415135
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsrc2
Ensembl Gene ENSMUSG00000029422
Gene Namearginine/serine-rich coiled-coil 2
Synonyms1500011J06Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.929) question?
Stock #IGL03268
Quality Score
Status
Chromosome5
Chromosomal Location123728426-123749414 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 123740727 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 56 (K56*)
Ref Sequence ENSEMBL: ENSMUSP00000138631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050827] [ENSMUST00000057795] [ENSMUST00000111515] [ENSMUST00000182015] [ENSMUST00000182093] [ENSMUST00000182241] [ENSMUST00000182309] [ENSMUST00000182411] [ENSMUST00000182489] [ENSMUST00000182556] [ENSMUST00000182955] [ENSMUST00000183147]
Predicted Effect probably null
Transcript: ENSMUST00000050827
AA Change: K56*
SMART Domains Protein: ENSMUSP00000050563
Gene: ENSMUSG00000029422
AA Change: K56*

DomainStartEndE-ValueType
low complexity region 36 54 N/A INTRINSIC
low complexity region 108 208 N/A INTRINSIC
low complexity region 209 226 N/A INTRINSIC
coiled coil region 228 272 N/A INTRINSIC
low complexity region 294 308 N/A INTRINSIC
Pfam:SMAP 354 423 6.7e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000057795
AA Change: K56*
SMART Domains Protein: ENSMUSP00000049942
Gene: ENSMUSG00000029422
AA Change: K56*

DomainStartEndE-ValueType
low complexity region 50 150 N/A INTRINSIC
low complexity region 151 168 N/A INTRINSIC
coiled coil region 170 214 N/A INTRINSIC
low complexity region 236 250 N/A INTRINSIC
Pfam:SMAP 295 365 4.7e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111515
AA Change: K56*
SMART Domains Protein: ENSMUSP00000107140
Gene: ENSMUSG00000029422
AA Change: K56*

DomainStartEndE-ValueType
low complexity region 50 150 N/A INTRINSIC
low complexity region 151 168 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181980
Predicted Effect probably benign
Transcript: ENSMUST00000182015
SMART Domains Protein: ENSMUSP00000138210
Gene: ENSMUSG00000029422

DomainStartEndE-ValueType
low complexity region 36 69 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182093
Predicted Effect probably benign
Transcript: ENSMUST00000182241
SMART Domains Protein: ENSMUSP00000138162
Gene: ENSMUSG00000029422

DomainStartEndE-ValueType
low complexity region 36 69 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000182309
AA Change: K114*
SMART Domains Protein: ENSMUSP00000138691
Gene: ENSMUSG00000029422
AA Change: K114*

DomainStartEndE-ValueType
low complexity region 36 54 N/A INTRINSIC
low complexity region 108 208 N/A INTRINSIC
low complexity region 209 226 N/A INTRINSIC
coiled coil region 228 272 N/A INTRINSIC
low complexity region 294 308 N/A INTRINSIC
Pfam:SMAP 353 423 4.7e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182411
SMART Domains Protein: ENSMUSP00000138439
Gene: ENSMUSG00000029422

DomainStartEndE-ValueType
low complexity region 36 54 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000182489
AA Change: K67*
SMART Domains Protein: ENSMUSP00000138518
Gene: ENSMUSG00000029422
AA Change: K67*

DomainStartEndE-ValueType
internal_repeat_1 10 46 8.8e-5 PROSPERO
low complexity region 61 161 N/A INTRINSIC
low complexity region 162 179 N/A INTRINSIC
coiled coil region 181 225 N/A INTRINSIC
low complexity region 247 261 N/A INTRINSIC
Pfam:SMAP 306 376 4e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182542
Predicted Effect probably null
Transcript: ENSMUST00000182556
AA Change: K56*
SMART Domains Protein: ENSMUSP00000138631
Gene: ENSMUSG00000029422
AA Change: K56*

DomainStartEndE-ValueType
low complexity region 50 150 N/A INTRINSIC
low complexity region 151 168 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182612
Predicted Effect probably benign
Transcript: ENSMUST00000182861
Predicted Effect probably benign
Transcript: ENSMUST00000182955
SMART Domains Protein: ENSMUSP00000138280
Gene: ENSMUSG00000029422

DomainStartEndE-ValueType
coiled coil region 1 41 N/A INTRINSIC
low complexity region 63 77 N/A INTRINSIC
Pfam:SMAP 122 192 1.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183147
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,191 probably benign Het
Acvrl1 A T 15: 101,135,922 I162F possibly damaging Het
Adprhl1 A G 8: 13,246,170 probably benign Het
Anapc7 G A 5: 122,429,606 probably null Het
Ankrd13a T C 5: 114,792,235 L227P probably damaging Het
Anxa5 T C 3: 36,450,679 I245V probably benign Het
Arf1 A T 11: 59,212,837 V123E possibly damaging Het
Catsperg1 G A 7: 29,200,243 R338C probably damaging Het
Cc2d1a A C 8: 84,133,525 L855R probably damaging Het
Cdh18 G A 15: 23,366,867 A220T probably damaging Het
Cep350 T C 1: 155,953,549 H203R probably benign Het
Cep78 G T 19: 15,974,442 S333* probably null Het
Chrna2 T A 14: 66,150,946 probably benign Het
Dact1 T C 12: 71,317,483 V346A probably damaging Het
Dcn A G 10: 97,483,378 I6V probably benign Het
Dlg3 A G X: 100,809,887 Y600C probably damaging Het
Dmd A G X: 83,806,208 E1084G probably damaging Het
Epb41 A C 4: 131,928,495 D825E probably damaging Het
Galc T A 12: 98,222,593 probably benign Het
Hmcn1 T A 1: 150,772,510 D675V probably damaging Het
Igkv2-137 A G 6: 67,556,108 D85G probably benign Het
Kxd1 A G 8: 70,508,486 I78T probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lama2 A T 10: 27,422,653 I149N probably damaging Het
Mbnl2 G T 14: 120,379,157 C61F probably damaging Het
Mcts1 T C X: 38,601,982 I22T possibly damaging Het
Olfr594 T G 7: 103,220,641 F308V probably benign Het
Olfr725 T C 14: 50,034,567 T279A probably damaging Het
Pde12 T A 14: 26,668,459 E365V probably benign Het
Prl8a2 A G 13: 27,353,955 K204R probably benign Het
Rnf25 A T 1: 74,599,058 probably benign Het
Rragb A G X: 153,140,497 D5G unknown Het
Scn5a T C 9: 119,521,231 Q859R probably damaging Het
Sept4 G A 11: 87,589,703 V388M probably damaging Het
Slc29a2 C T 19: 5,024,503 probably benign Het
Slc30a5 G A 13: 100,806,703 T549I probably damaging Het
Slc7a2 A G 8: 40,912,517 T462A probably benign Het
Spsb2 A G 6: 124,809,487 E61G probably damaging Het
Srr A G 11: 74,913,117 Y5H probably benign Het
Suclg2 T C 6: 95,569,592 D301G probably damaging Het
Syt14 A G 1: 192,986,834 V37A probably benign Het
Syt9 A G 7: 107,436,405 N210D probably benign Het
Tenm3 T C 8: 48,235,523 D2343G probably damaging Het
Tma7 A G 9: 109,078,382 probably benign Het
Tor3a T C 1: 156,669,450 D175G probably damaging Het
Tpo G T 12: 30,094,965 A595D possibly damaging Het
Tpst2 T C 5: 112,308,225 V210A probably damaging Het
Uchl1 A T 5: 66,682,481 E122V probably benign Het
Vmn1r210 A T 13: 22,827,235 F294I probably benign Het
Other mutations in Rsrc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00646:Rsrc2 APN 5 123739622 utr 5 prime probably benign
PIT4519001:Rsrc2 UTSW 5 123745072 missense unknown
R0254:Rsrc2 UTSW 5 123740847 utr 5 prime probably benign
R2889:Rsrc2 UTSW 5 123736557 critical splice donor site probably benign
R3875:Rsrc2 UTSW 5 123736628 utr 5 prime probably benign
R4914:Rsrc2 UTSW 5 123739550 utr 5 prime probably benign
R5200:Rsrc2 UTSW 5 123739499 nonsense probably null
R5237:Rsrc2 UTSW 5 123739582 utr 5 prime probably benign
R5473:Rsrc2 UTSW 5 123731087 missense probably damaging 1.00
R6263:Rsrc2 UTSW 5 123739688 start gained probably benign
R6657:Rsrc2 UTSW 5 123739567 utr 5 prime probably benign
R6806:Rsrc2 UTSW 5 123739531 utr 5 prime probably benign
R7145:Rsrc2 UTSW 5 123739567 utr 5 prime probably benign
X0020:Rsrc2 UTSW 5 123729223 missense probably damaging 0.97
Posted On2016-08-02