Incidental Mutation 'R6263:Rsrc2'
ID 506815
Institutional Source Beutler Lab
Gene Symbol Rsrc2
Ensembl Gene ENSMUSG00000029422
Gene Name arginine/serine-rich coiled-coil 2
Synonyms 1500011J06Rik
MMRRC Submission 044437-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # R6263 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 123866489-123887477 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to A at 123877751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050827] [ENSMUST00000057795] [ENSMUST00000111515] [ENSMUST00000182015] [ENSMUST00000182093] [ENSMUST00000182309] [ENSMUST00000182489] [ENSMUST00000182556] [ENSMUST00000182411] [ENSMUST00000182241] [ENSMUST00000182955] [ENSMUST00000183147]
AlphaFold A2RTL5
Predicted Effect unknown
Transcript: ENSMUST00000050827
AA Change: R77C
SMART Domains Protein: ENSMUSP00000050563
Gene: ENSMUSG00000029422
AA Change: R77C

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 unknown
Transcript: ENSMUST00000057795
AA Change: R77C
SMART Domains Protein: ENSMUSP00000049942
Gene: ENSMUSG00000029422
AA Change: R77C

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 unknown
Transcript: ENSMUST00000111515
AA Change: R77C
SMART Domains Protein: ENSMUSP00000107140
Gene: ENSMUSG00000029422
AA Change: R77C

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 unknown
Transcript: ENSMUST00000182309
AA Change: R135C
SMART Domains Protein: ENSMUSP00000138691
Gene: ENSMUSG00000029422
AA Change: R135C

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 unknown
Transcript: ENSMUST00000182489
AA Change: R88C
SMART Domains Protein: ENSMUSP00000138518
Gene: ENSMUSG00000029422
AA Change: R88C

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 unknown
Transcript: ENSMUST00000182556
AA Change: R77C
SMART Domains Protein: ENSMUSP00000138631
Gene: ENSMUSG00000029422
AA Change: R77C

DomainStartEndE-ValueType
low complexity region 50 150 N/A INTRINSIC
low complexity region 151 168 N/A INTRINSIC
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 benign
Transcript: ENSMUST00000182861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182809
Predicted Effect probably benign
Transcript: ENSMUST00000182241
SMART Domains Protein: ENSMUSP00000138162
Gene: ENSMUSG00000029422

DomainStartEndE-ValueType
low complexity region 36 69 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182948
Predicted Effect probably benign
Transcript: ENSMUST00000182584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182542
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183253
Meta Mutation Damage Score 0.2848 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,995,641 (GRCm39) I5642V probably benign Het
Atp5f1a A G 18: 77,866,930 (GRCm39) probably null Het
Bltp1 T A 3: 36,985,260 (GRCm39) N863K probably benign Het
Bsn A T 9: 107,990,453 (GRCm39) F1766L probably damaging Het
Ccdc141 T C 2: 76,938,807 (GRCm39) Q266R probably damaging Het
Cdh10 T A 15: 18,964,154 (GRCm39) D105E possibly damaging Het
Clca3a1 T A 3: 144,455,539 (GRCm39) D418V probably damaging Het
Cnnm2 C A 19: 46,845,344 (GRCm39) T612K probably benign Het
Col3a1 T C 1: 45,360,735 (GRCm39) V55A unknown Het
Cpd A C 11: 76,737,097 (GRCm39) D232E probably benign Het
Csde1 A G 3: 102,947,333 (GRCm39) H95R probably benign Het
Ctcfl T A 2: 172,937,130 (GRCm39) H596L probably benign Het
Cwc22 T C 2: 77,726,515 (GRCm39) R855G possibly damaging Het
Cwc25 A G 11: 97,644,053 (GRCm39) Y227H probably damaging Het
Cyp2c38 G A 19: 39,380,659 (GRCm39) P409S probably damaging Het
Ddx5 A G 11: 106,679,139 (GRCm39) S2P possibly damaging Het
Dnah2 C A 11: 69,348,238 (GRCm39) G2570W probably damaging Het
Dnajc10 T A 2: 80,174,292 (GRCm39) V528E probably damaging Het
Efcab3 G A 11: 104,810,312 (GRCm39) D3150N unknown Het
Fmo1 A G 1: 162,677,629 (GRCm39) probably null Het
Gpatch1 C A 7: 35,002,848 (GRCm39) D221Y probably damaging Het
Ino80 T C 2: 119,213,895 (GRCm39) Y1225C probably damaging Het
Itga7 T A 10: 128,779,955 (GRCm39) D501E probably benign Het
Lgr4 T C 2: 109,842,243 (GRCm39) S743P possibly damaging Het
Lilra5 A T 7: 4,241,360 (GRCm39) Y99F probably damaging Het
Lmna A G 3: 88,410,265 (GRCm39) V49A probably damaging Het
Lrrc72 G A 12: 36,258,603 (GRCm39) R267* probably null Het
Mapkbp1 T C 2: 119,853,772 (GRCm39) S1199P probably damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Myh10 A T 11: 68,701,058 (GRCm39) N1756Y probably damaging Het
Nfe2 A G 15: 103,159,378 (GRCm39) I31T probably damaging Het
Nfe2l1 A T 11: 96,708,570 (GRCm39) F732I probably benign Het
Or4a39 C G 2: 89,237,074 (GRCm39) M116I possibly damaging Het
Or4c12b T A 2: 89,647,104 (GRCm39) C145S probably damaging Het
Or52e19b C A 7: 103,032,403 (GRCm39) V269F possibly damaging Het
Pax6 T C 2: 105,523,199 (GRCm39) probably null Het
Phb1 A G 11: 95,568,941 (GRCm39) E192G probably damaging Het
Plekhn1 A T 4: 156,309,650 (GRCm39) probably null Het
Plxnb2 A T 15: 89,046,189 (GRCm39) V942E probably damaging Het
Potegl T A 2: 23,156,745 (GRCm39) probably benign Het
Septin8 G A 11: 53,439,210 (GRCm39) C460Y probably benign Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc16a7 A G 10: 125,130,508 (GRCm39) I59T probably benign Het
Slc35d1 A T 4: 103,065,365 (GRCm39) I172N possibly damaging Het
Smg5 A T 3: 88,249,208 (GRCm39) N40Y possibly damaging Het
Smurf1 A G 5: 144,818,541 (GRCm39) V633A probably damaging Het
Snx9 T C 17: 5,937,324 (GRCm39) V22A probably damaging Het
Sox6 A T 7: 115,076,295 (GRCm39) M741K probably damaging Het
Spata31d1d T C 13: 59,873,797 (GRCm39) Q1246R probably benign Het
Sval1 A G 6: 41,928,660 (GRCm39) E24G probably damaging Het
Tas2r124 A G 6: 132,731,867 (GRCm39) I59V probably benign Het
Tmem151b T A 17: 45,857,992 (GRCm39) T85S probably benign Het
Tpr T A 1: 150,317,996 (GRCm39) probably null Het
Trpm6 A C 19: 18,831,472 (GRCm39) T1446P possibly damaging Het
Tsc22d4 A T 5: 137,766,441 (GRCm39) K502N possibly damaging Het
Tssk3 C T 4: 129,383,051 (GRCm39) S207N probably benign Het
Ttbk1 G T 17: 46,778,188 (GRCm39) P618Q probably damaging Het
Ttll6 A T 11: 96,047,371 (GRCm39) M657L probably benign Het
Ubash3a T A 17: 31,434,069 (GRCm39) I138N probably benign Het
Ush2a A G 1: 188,090,839 (GRCm39) Y490C probably damaging Het
Vmn1r82 G T 7: 12,039,461 (GRCm39) V127F probably damaging Het
Vmn2r32 A T 7: 7,479,691 (GRCm39) S161T possibly damaging Het
Wdr49 T C 3: 75,388,824 (GRCm39) I58M possibly damaging Het
Wiz A T 17: 32,579,417 (GRCm39) probably null Het
Wrap53 A T 11: 69,453,619 (GRCm39) Y324* probably null Het
Zfp747 A C 7: 126,975,138 (GRCm39) probably benign Het
Zfp827 A G 8: 79,905,702 (GRCm39) Y33C probably damaging Het
Other mutations in Rsrc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00646:Rsrc2 APN 5 123,877,685 (GRCm39) utr 5 prime probably benign
IGL03268:Rsrc2 APN 5 123,878,790 (GRCm39) nonsense probably null
PIT4519001:Rsrc2 UTSW 5 123,883,135 (GRCm39) missense unknown
R0254:Rsrc2 UTSW 5 123,878,910 (GRCm39) utr 5 prime probably benign
R2889:Rsrc2 UTSW 5 123,874,620 (GRCm39) critical splice donor site probably benign
R3875:Rsrc2 UTSW 5 123,874,691 (GRCm39) utr 5 prime probably benign
R4914:Rsrc2 UTSW 5 123,877,613 (GRCm39) utr 5 prime probably benign
R5200:Rsrc2 UTSW 5 123,877,562 (GRCm39) nonsense probably null
R5237:Rsrc2 UTSW 5 123,877,645 (GRCm39) utr 5 prime probably benign
R5473:Rsrc2 UTSW 5 123,869,150 (GRCm39) missense probably damaging 1.00
R6657:Rsrc2 UTSW 5 123,877,630 (GRCm39) utr 5 prime probably benign
R6806:Rsrc2 UTSW 5 123,877,594 (GRCm39) utr 5 prime probably benign
R7145:Rsrc2 UTSW 5 123,877,630 (GRCm39) utr 5 prime probably benign
R8894:Rsrc2 UTSW 5 123,878,793 (GRCm39) missense unknown
R9648:Rsrc2 UTSW 5 123,877,688 (GRCm39) missense unknown
R9768:Rsrc2 UTSW 5 123,868,561 (GRCm39) missense probably benign 0.08
X0020:Rsrc2 UTSW 5 123,867,286 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ACACTTACCGACTTCGACTC -3'
(R):5'- TAGAGGCGAAGAAAGCTCCC -3'

Sequencing Primer
(F):5'- ACCGACTTCGACTCCTTGATCTG -3'
(R):5'- AACAATGCAGGGGTTTTTCC -3'
Posted On 2018-03-15