Incidental Mutation 'R3875:Rsrc2'
ID 276784
Institutional Source Beutler Lab
Gene Symbol Rsrc2
Ensembl Gene ENSMUSG00000029422
Gene Name arginine/serine-rich coiled-coil 2
Synonyms 1500011J06Rik
MMRRC Submission 068967-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # R3875 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 123866489-123887477 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) C to T at 123874691 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] [ENSMUST00000182489] [ENSMUST00000182556] [ENSMUST00000182309] [ENSMUST00000182241] [ENSMUST00000182955] [ENSMUST00000182411] [ENSMUST00000183147]
AlphaFold A2RTL5
Predicted Effect unknown
Transcript: ENSMUST00000050827
AA Change: R160Q
SMART Domains Protein: ENSMUSP00000050563
Gene: ENSMUSG00000029422
AA Change: R160Q

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: R160Q
SMART Domains Protein: ENSMUSP00000049942
Gene: ENSMUSG00000029422
AA Change: R160Q

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: R160Q
SMART Domains Protein: ENSMUSP00000107140
Gene: ENSMUSG00000029422
AA Change: R160Q

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: ENSMUST00000182489
AA Change: R171Q
SMART Domains Protein: ENSMUSP00000138518
Gene: ENSMUSG00000029422
AA Change: R171Q

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: R160Q
SMART Domains Protein: ENSMUSP00000138631
Gene: ENSMUSG00000029422
AA Change: R160Q

DomainStartEndE-ValueType
low complexity region 50 150 N/A INTRINSIC
low complexity region 151 168 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182744
Predicted Effect unknown
Transcript: ENSMUST00000182309
AA Change: R218Q
SMART Domains Protein: ENSMUSP00000138691
Gene: ENSMUSG00000029422
AA Change: R218Q

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 noncoding transcript
Transcript: ENSMUST00000182968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182948
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 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: 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 probably benign
Transcript: ENSMUST00000182584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182985
Predicted Effect probably benign
Transcript: ENSMUST00000183147
Meta Mutation Damage Score 0.0806 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T C 2: 152,276,000 (GRCm39) S72P probably benign Het
Abca5 T A 11: 110,201,059 (GRCm39) Y447F probably damaging Het
Adgrg2 A G X: 159,261,992 (GRCm39) S337G probably benign Het
Akap12 G A 10: 4,307,590 (GRCm39) V1467I probably benign Het
Baz2a T A 10: 127,959,979 (GRCm39) M1419K probably damaging Het
Cacna1g G A 11: 94,328,749 (GRCm39) T1033I probably damaging Het
Car12 C A 9: 66,624,834 (GRCm39) probably benign Het
Cpne1 G A 2: 155,918,202 (GRCm39) H352Y probably damaging Het
D630039A03Rik T A 4: 57,910,606 (GRCm39) T69S probably benign Het
Dhodh T C 8: 110,321,592 (GRCm39) D310G probably null Het
Dnah2 A G 11: 69,320,174 (GRCm39) I3965T probably damaging Het
Drd5 T G 5: 38,477,157 (GRCm39) V50G possibly damaging Het
Dst C A 1: 34,210,328 (GRCm39) H934Q probably damaging Het
Eif1ad10 T C 12: 88,216,476 (GRCm39) D132G unknown Het
Far2 G A 6: 148,052,089 (GRCm39) E123K probably benign Het
Fbxo43 A T 15: 36,162,249 (GRCm39) F319L probably benign Het
Flii T C 11: 60,611,318 (GRCm39) S418G probably benign Het
Glyctk T A 9: 106,034,820 (GRCm39) Y82F probably damaging Het
Gm11353 G T 13: 26,676,651 (GRCm39) noncoding transcript Het
Gm6505 T A 3: 28,819,286 (GRCm39) noncoding transcript Het
Gpr151 A G 18: 42,711,661 (GRCm39) V339A probably benign Het
H2-T22 T C 17: 36,351,195 (GRCm39) I296V probably benign Het
Igfn1 T C 1: 135,882,352 (GRCm39) N2831S probably damaging Het
Igkv13-85 A G 6: 68,907,484 (GRCm39) V39A probably damaging Het
Irx5 A G 8: 93,086,793 (GRCm39) T242A probably benign Het
Krt26 T C 11: 99,225,570 (GRCm39) K304E probably damaging Het
Mcoln1 A G 8: 3,558,355 (GRCm39) D203G probably benign Het
Mlph T C 1: 90,855,844 (GRCm39) C57R probably damaging Het
Myh13 C A 11: 67,249,020 (GRCm39) H1275Q probably benign Het
Nbeal1 T A 1: 60,233,758 (GRCm39) probably benign Het
Orc5 T A 5: 22,742,564 (GRCm39) M115L probably benign Het
Pcdha6 T A 18: 37,101,119 (GRCm39) I104N probably damaging Het
Plcb4 T C 2: 135,844,552 (GRCm39) S157P probably damaging Het
Polq A G 16: 36,894,389 (GRCm39) D1787G probably damaging Het
Prkar2b T G 12: 32,015,122 (GRCm39) I142L probably benign Het
Ptprq A G 10: 107,520,965 (GRCm39) S736P possibly damaging Het
Qrich2 A T 11: 116,336,477 (GRCm39) V2046D probably damaging Het
Rad21 A T 15: 51,833,361 (GRCm39) F373I probably damaging Het
Rcvrn A G 11: 67,590,880 (GRCm39) I155V probably benign Het
Sgsh A G 11: 119,241,773 (GRCm39) L111P probably damaging Het
Ssc5d A T 7: 4,930,261 (GRCm39) D114V probably damaging Het
St6gal2 C A 17: 55,789,698 (GRCm39) P244Q probably benign Het
Tarbp1 A G 8: 127,165,538 (GRCm39) probably benign Het
Tmem221 T C 8: 72,008,399 (GRCm39) probably null Het
Trh A T 6: 92,220,679 (GRCm39) V61E possibly damaging Het
Trim32 A T 4: 65,531,703 (GRCm39) I87F possibly damaging Het
Tti2 A G 8: 31,641,175 (GRCm39) K100E probably benign Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vps13d A G 4: 144,917,114 (GRCm39) Y17H probably damaging Het
Zfp106 T C 2: 120,365,094 (GRCm39) K438E probably benign Het
Zfp60 T C 7: 27,449,006 (GRCm39) I558T probably damaging Het
Zzef1 A C 11: 72,779,866 (GRCm39) I1880L probably benign 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
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
R6263:Rsrc2 UTSW 5 123,877,751 (GRCm39) start gained probably benign
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'- AATGTCAGTCTTCTTGAATGTGC -3'
(R):5'- CCAGCTATAGCATGGGTGTTG -3'

Sequencing Primer
(F):5'- CTTGAATGTGCAAATTAAAAACCGGC -3'
(R):5'- CCAGCTATAGCATGGGTGTTGTTAAC -3'
Posted On 2015-04-06