Incidental Mutation 'R5473:Rsrc2'
ID 433920
Institutional Source Beutler Lab
Gene Symbol Rsrc2
Ensembl Gene ENSMUSG00000029422
Gene Name arginine/serine-rich coiled-coil 2
Synonyms 1500011J06Rik
MMRRC Submission 043034-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # R5473 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 123866489-123887477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 123869150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 98 (A98T)
Ref Sequence ENSEMBL: ENSMUSP00000138280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050827] [ENSMUST00000057795] [ENSMUST00000111515] [ENSMUST00000182015] [ENSMUST00000182309] [ENSMUST00000182489] [ENSMUST00000182955] [ENSMUST00000183147] [ENSMUST00000182556]
AlphaFold A2RTL5
Predicted Effect probably damaging
Transcript: ENSMUST00000050827
AA Change: A271T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050563
Gene: ENSMUSG00000029422
AA Change: A271T

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 damaging
Transcript: ENSMUST00000057795
AA Change: A271T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049942
Gene: ENSMUSG00000029422
AA Change: A271T

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 benign
Transcript: ENSMUST00000111515
SMART Domains Protein: ENSMUSP00000107140
Gene: ENSMUSG00000029422

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 damaging
Transcript: ENSMUST00000182309
AA Change: A329T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138691
Gene: ENSMUSG00000029422
AA Change: A329T

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: ENSMUST00000182985
Predicted Effect probably damaging
Transcript: ENSMUST00000182489
AA Change: A282T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138518
Gene: ENSMUSG00000029422
AA Change: A282T

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: ENSMUST00000182948
Predicted Effect probably damaging
Transcript: ENSMUST00000182955
AA Change: A98T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138280
Gene: ENSMUSG00000029422
AA Change: A98T

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 noncoding transcript
Transcript: ENSMUST00000182968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182744
Predicted Effect probably damaging
Transcript: ENSMUST00000183147
AA Change: A98T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000182584
Predicted Effect probably benign
Transcript: ENSMUST00000182556
SMART Domains Protein: ENSMUSP00000138631
Gene: ENSMUSG00000029422

DomainStartEndE-ValueType
low complexity region 50 150 N/A INTRINSIC
low complexity region 151 168 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182861
Meta Mutation Damage Score 0.1765 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 T C 7: 119,312,173 (GRCm39) Y549H probably damaging Het
Adamtsl4 G T 3: 95,587,303 (GRCm39) Q758K probably damaging Het
Anapc1 G T 2: 128,449,115 (GRCm39) probably benign Het
Ankrd26 A T 6: 118,492,797 (GRCm39) C1316S probably benign Het
Birc5 T C 11: 117,743,533 (GRCm39) V89A possibly damaging Het
Camk2d G T 3: 126,391,048 (GRCm39) probably benign Het
Ccdc47 A T 11: 106,095,855 (GRCm39) S280R probably damaging Het
Cntnap5a T A 1: 116,016,986 (GRCm39) F193Y probably benign Het
Cntrob G T 11: 69,213,579 (GRCm39) D70E possibly damaging Het
Col24a1 A C 3: 145,243,016 (GRCm39) M1519L probably benign Het
Col2a1 G T 15: 97,885,370 (GRCm39) A491D unknown Het
Crat A G 2: 30,297,726 (GRCm39) L266P probably damaging Het
Dlgap1 A T 17: 70,824,025 (GRCm39) probably benign Het
Dnaaf10 T C 11: 17,174,591 (GRCm39) V153A probably damaging Het
Eya4 T A 10: 23,039,351 (GRCm39) H104L probably benign Het
Fam83b T C 9: 76,398,782 (GRCm39) K774E probably damaging Het
Fgd6 T C 10: 93,880,538 (GRCm39) I464T probably benign Het
Gorasp2 A C 2: 70,508,950 (GRCm39) M123L probably damaging Het
H2-M10.3 A T 17: 36,678,261 (GRCm39) V188E probably damaging Het
Hnrnpk A T 13: 58,541,913 (GRCm39) W333R probably damaging Het
Hrh4 T C 18: 13,154,985 (GRCm39) Y175H probably benign Het
Igf2r G T 17: 12,914,201 (GRCm39) T1756K probably benign Het
Kcnq5 A G 1: 21,527,626 (GRCm39) probably null Het
Kiz G T 2: 146,811,915 (GRCm39) E675* probably null Het
Mcm3ap T G 10: 76,338,593 (GRCm39) L1407R probably damaging Het
Mdc1 A G 17: 36,158,952 (GRCm39) D444G probably benign Het
Myl3 C A 9: 110,597,026 (GRCm39) H129N probably damaging Het
Neo1 T C 9: 58,788,126 (GRCm39) N1309S possibly damaging Het
Nrxn1 A T 17: 90,897,520 (GRCm39) Y269N probably damaging Het
Nsd1 A G 13: 55,395,585 (GRCm39) N1165S probably damaging Het
Nuf2 T C 1: 169,334,856 (GRCm39) D302G probably benign Het
Olfr908 A G 9: 38,427,508 (GRCm39) Y60C probably damaging Het
Or10j3 G C 1: 173,031,732 (GRCm39) G270R probably benign Het
Or14j1 T C 17: 38,146,630 (GRCm39) F247L probably benign Het
Or5d38 A T 2: 87,954,981 (GRCm39) M116K possibly damaging Het
Oxsm A T 14: 16,242,045 (GRCm38) S241R probably damaging Het
Pde1a G T 2: 79,736,372 (GRCm39) S87R probably damaging Het
Plagl2 A T 2: 153,074,114 (GRCm39) C262* probably null Het
Plcg2 A G 8: 118,361,140 (GRCm39) K1233R probably benign Het
Pon3 A T 6: 5,256,177 (GRCm39) I17K possibly damaging Het
Ppfia1 A T 7: 144,045,229 (GRCm39) M951K probably benign Het
Pramel12 A G 4: 143,145,874 (GRCm39) R448G probably damaging Het
Prpf31 A G 7: 3,642,824 (GRCm39) K438E probably benign Het
Pum3 C A 19: 27,396,248 (GRCm39) V328F probably damaging Het
Ralgapa1 T C 12: 55,723,495 (GRCm39) E1677G probably benign Het
Rpf2 A G 10: 40,103,627 (GRCm39) V96A possibly damaging Het
Saraf G A 8: 34,628,412 (GRCm39) R86Q probably damaging Het
Scara5 T A 14: 65,977,788 (GRCm39) D349E possibly damaging Het
Slc30a1 T C 1: 191,641,734 (GRCm39) V460A possibly damaging Het
Tdrd7 G T 4: 46,020,877 (GRCm39) V768L possibly damaging Het
Tshz2 T C 2: 169,725,718 (GRCm39) S105P probably benign Het
Ufsp2 A G 8: 46,445,258 (GRCm39) I362M probably damaging Het
Ugt1a7c T A 1: 88,023,159 (GRCm39) I106K probably benign Het
Zdhhc5 A G 2: 84,520,810 (GRCm39) Y456H 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
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'- AAGCTGCTTATTAGTACCTGCTAC -3'
(R):5'- CCACTGGAGGTTCAGTTCTTAATG -3'

Sequencing Primer
(F):5'- TGCTACCCACCCCTTATAAATATATG -3'
(R):5'- CAGTTCTTAATGTTGCTGCACTG -3'
Posted On 2016-10-06