Incidental Mutation 'R4034:Csn1s2a'
ID 313618
Institutional Source Beutler Lab
Gene Symbol Csn1s2a
Ensembl Gene ENSMUSG00000061937
Gene Name casein alpha s2-like A
Synonyms Csn1s2a, Csng
MMRRC Submission 040962-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4034 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 87922426-87936656 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87929746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 115 (Q115R)
Ref Sequence ENSEMBL: ENSMUSP00000142901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076379] [ENSMUST00000196585] [ENSMUST00000196749] [ENSMUST00000200322]
AlphaFold Q02862
Predicted Effect probably benign
Transcript: ENSMUST00000076379
AA Change: Q123R

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000075716
Gene: ENSMUSG00000061937
AA Change: Q123R

DomainStartEndE-ValueType
low complexity region 23 31 N/A INTRINSIC
coiled coil region 58 86 N/A INTRINSIC
low complexity region 102 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196585
AA Change: Q108R

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143515
Gene: ENSMUSG00000061937
AA Change: Q108R

DomainStartEndE-ValueType
low complexity region 23 31 N/A INTRINSIC
low complexity region 51 80 N/A INTRINSIC
low complexity region 87 100 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196749
AA Change: Q122R

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143715
Gene: ENSMUSG00000061937
AA Change: Q122R

DomainStartEndE-ValueType
low complexity region 23 31 N/A INTRINSIC
coiled coil region 57 85 N/A INTRINSIC
low complexity region 101 114 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199200
Predicted Effect probably benign
Transcript: ENSMUST00000200322
AA Change: Q115R

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142901
Gene: ENSMUSG00000061937
AA Change: Q115R

DomainStartEndE-ValueType
low complexity region 23 31 N/A INTRINSIC
low complexity region 51 57 N/A INTRINSIC
low complexity region 72 87 N/A INTRINSIC
low complexity region 94 107 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200210
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,108 (GRCm39) L775* probably null Het
Aarsd1 C T 11: 101,302,158 (GRCm39) V301I probably damaging Het
Arap1 A T 7: 101,049,484 (GRCm39) Y982F possibly damaging Het
Aspa T C 11: 73,199,597 (GRCm39) K227E possibly damaging Het
Ccdc168 A G 1: 44,098,026 (GRCm39) V1024A probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cngb1 C A 8: 95,991,078 (GRCm39) C708F possibly damaging Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mroh9 A G 1: 162,908,122 (GRCm39) probably null Het
Muc5ac G A 7: 141,353,581 (GRCm39) probably null Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Pgm5 T A 19: 24,839,021 (GRCm39) I45F probably damaging Het
Ppl T C 16: 4,924,721 (GRCm39) T115A probably benign Het
Sgpp1 A G 12: 75,762,964 (GRCm39) Y406H probably damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Tcerg1 T A 18: 42,652,598 (GRCm39) N75K unknown Het
Tmco4 T C 4: 138,748,172 (GRCm39) Y251H probably damaging Het
Usp42 C T 5: 143,701,194 (GRCm39) S943N probably benign Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Vmn1r14 G A 6: 57,211,310 (GRCm39) R252H possibly damaging Het
Wapl T C 14: 34,459,871 (GRCm39) V1013A possibly damaging Het
Zfp37 G A 4: 62,109,933 (GRCm39) T414I probably damaging Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R probably damaging Het
Other mutations in Csn1s2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Csn1s2a APN 5 87,932,439 (GRCm39) missense possibly damaging 0.83
IGL01829:Csn1s2a APN 5 87,934,569 (GRCm39) missense unknown
R0137:Csn1s2a UTSW 5 87,926,826 (GRCm39) missense possibly damaging 0.46
R1503:Csn1s2a UTSW 5 87,923,658 (GRCm39) missense possibly damaging 0.66
R1799:Csn1s2a UTSW 5 87,926,052 (GRCm39) missense probably damaging 0.97
R1870:Csn1s2a UTSW 5 87,926,058 (GRCm39) missense probably benign 0.27
R2400:Csn1s2a UTSW 5 87,928,014 (GRCm39) critical splice donor site probably null
R2897:Csn1s2a UTSW 5 87,929,680 (GRCm39) missense unknown
R4360:Csn1s2a UTSW 5 87,929,700 (GRCm39) missense possibly damaging 0.46
R4377:Csn1s2a UTSW 5 87,923,680 (GRCm39) missense probably benign
R4834:Csn1s2a UTSW 5 87,929,637 (GRCm39) missense probably benign 0.27
R4965:Csn1s2a UTSW 5 87,929,697 (GRCm39) missense possibly damaging 0.83
R6807:Csn1s2a UTSW 5 87,929,731 (GRCm39) missense probably benign
R7115:Csn1s2a UTSW 5 87,929,664 (GRCm39) missense probably benign 0.00
R7353:Csn1s2a UTSW 5 87,933,161 (GRCm39) missense possibly damaging 0.66
R7420:Csn1s2a UTSW 5 87,927,865 (GRCm39) missense possibly damaging 0.83
R8932:Csn1s2a UTSW 5 87,933,164 (GRCm39) missense probably benign 0.05
R9074:Csn1s2a UTSW 5 87,934,458 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGCTTTGTCAAACTGGCATAG -3'
(R):5'- TCACACATGAATGGTTTTGCGTG -3'

Sequencing Primer
(F):5'- AAACTTGACCTATGAAGAATAGTCAC -3'
(R):5'- CACATGAATGGTTTTGCGTGATTTAC -3'
Posted On 2015-04-30