Incidental Mutation 'R0964:Ccser2'
ID 81590
Institutional Source Beutler Lab
Gene Symbol Ccser2
Ensembl Gene ENSMUSG00000058690
Gene Name coiled-coil serine rich 2
Synonyms 2900054P12Rik, 1700012P13Rik, Gcap14
MMRRC Submission 039093-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R0964 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 36596893-36690734 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 36630965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067700] [ENSMUST00000090024] [ENSMUST00000182042] [ENSMUST00000182576] [ENSMUST00000182797] [ENSMUST00000183007] [ENSMUST00000183038] [ENSMUST00000183316]
AlphaFold Q3UHI0
Predicted Effect probably benign
Transcript: ENSMUST00000067700
SMART Domains Protein: ENSMUSP00000068550
Gene: ENSMUSG00000058690

DomainStartEndE-ValueType
low complexity region 50 63 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
coiled coil region 157 194 N/A INTRINSIC
low complexity region 221 234 N/A INTRINSIC
low complexity region 331 342 N/A INTRINSIC
low complexity region 365 385 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090024
SMART Domains Protein: ENSMUSP00000087478
Gene: ENSMUSG00000058690

DomainStartEndE-ValueType
low complexity region 389 412 N/A INTRINSIC
low complexity region 496 506 N/A INTRINSIC
low complexity region 543 562 N/A INTRINSIC
low complexity region 603 616 N/A INTRINSIC
low complexity region 677 688 N/A INTRINSIC
coiled coil region 710 747 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182042
SMART Domains Protein: ENSMUSP00000138453
Gene: ENSMUSG00000058690

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 105 116 N/A INTRINSIC
coiled coil region 138 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182576
SMART Domains Protein: ENSMUSP00000138318
Gene: ENSMUSG00000058690

DomainStartEndE-ValueType
low complexity region 44 57 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182635
Predicted Effect probably benign
Transcript: ENSMUST00000182797
SMART Domains Protein: ENSMUSP00000138787
Gene: ENSMUSG00000058690

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 105 116 N/A INTRINSIC
coiled coil region 138 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183007
Predicted Effect probably benign
Transcript: ENSMUST00000183038
SMART Domains Protein: ENSMUSP00000138718
Gene: ENSMUSG00000058690

DomainStartEndE-ValueType
low complexity region 50 63 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
coiled coil region 157 194 N/A INTRINSIC
low complexity region 221 234 N/A INTRINSIC
low complexity region 331 342 N/A INTRINSIC
low complexity region 365 385 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183316
SMART Domains Protein: ENSMUSP00000138100
Gene: ENSMUSG00000058690

DomainStartEndE-ValueType
low complexity region 45 56 N/A INTRINSIC
coiled coil region 78 115 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Acacb A T 5: 114,367,813 (GRCm39) M1604L possibly damaging Het
Acp3 A G 9: 104,204,174 (GRCm39) V40A possibly damaging Het
Adgrl1 T C 8: 84,661,041 (GRCm39) probably benign Het
Alppl2 C T 1: 87,015,446 (GRCm39) V372I possibly damaging Het
Apol8 C T 15: 77,633,811 (GRCm39) S255N probably benign Het
Atp8b4 A T 2: 126,179,413 (GRCm39) F973I probably damaging Het
Bbs4 A G 9: 59,230,259 (GRCm39) *150Q probably null Het
Bltp3a A T 17: 28,106,152 (GRCm39) T893S probably damaging Het
Cacna1h A T 17: 25,597,749 (GRCm39) probably benign Het
Ccn1 C A 3: 145,353,503 (GRCm39) C353F probably damaging Het
Chd9 A G 8: 91,741,832 (GRCm39) E1607G probably benign Het
Clca4b A G 3: 144,621,337 (GRCm39) I579T probably benign Het
Col20a1 T A 2: 180,626,278 (GRCm39) probably benign Het
Creg2 T C 1: 39,664,144 (GRCm39) I205V probably benign Het
Ddx24 C T 12: 103,390,166 (GRCm39) R275H probably damaging Het
Dip2c G A 13: 9,618,699 (GRCm39) A579T probably benign Het
Dnah3 T C 7: 119,551,962 (GRCm39) probably benign Het
Dnah8 G A 17: 30,892,894 (GRCm39) probably null Het
Gckr T C 5: 31,484,259 (GRCm39) probably benign Het
Gpbp1l1 A G 4: 116,438,436 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,281,523 (GRCm39) T1913A probably benign Het
Lmo7 T C 14: 102,158,003 (GRCm39) probably benign Het
Meioc G A 11: 102,570,857 (GRCm39) V863I probably damaging Het
Myh1 A G 11: 67,096,751 (GRCm39) I341V probably benign Het
Myh1 A G 11: 67,112,430 (GRCm39) D1799G probably damaging Het
Myh13 A G 11: 67,235,828 (GRCm39) T664A probably benign Het
Myo3b A C 2: 70,257,193 (GRCm39) D1269A probably damaging Het
Nckap1 A G 2: 80,378,243 (GRCm39) probably null Het
Nr3c2 A G 8: 77,635,297 (GRCm39) probably null Het
Nxpe5 T C 5: 138,238,186 (GRCm39) S249P probably damaging Het
Or52z1 C T 7: 103,436,604 (GRCm39) M293I probably benign Het
Or8k16 A G 2: 85,520,709 (GRCm39) N312S probably benign Het
Or9a4 T C 6: 40,549,139 (GRCm39) V273A probably benign Het
Pitpnm3 G A 11: 71,949,296 (GRCm39) T675I probably damaging Het
Plekhm1 C A 11: 103,285,908 (GRCm39) E176* probably null Het
Prdm11 C A 2: 92,819,567 (GRCm39) probably benign Het
Prodh2 C A 7: 30,205,706 (GRCm39) R218S probably damaging Het
Rps15a T C 7: 117,714,060 (GRCm39) D54G probably benign Het
Sbno2 G T 10: 79,920,093 (GRCm39) T46N possibly damaging Het
Sdk2 A G 11: 113,697,243 (GRCm39) probably benign Het
Sema3c T C 5: 17,926,907 (GRCm39) F567L probably damaging Het
Slc36a1 A G 11: 55,116,780 (GRCm39) probably benign Het
Spaca6 A T 17: 18,058,653 (GRCm39) E284V possibly damaging Het
Srsf3 C A 17: 29,255,412 (GRCm39) L66I probably damaging Het
Srsf3 T A 17: 29,255,413 (GRCm39) L66Q probably damaging Het
Syne1 T C 10: 4,993,652 (GRCm39) T8363A possibly damaging Het
Trmt1 T A 8: 85,423,481 (GRCm39) L298Q probably damaging Het
Uba6 T C 5: 86,267,260 (GRCm39) I923V possibly damaging Het
Vmn2r106 G A 17: 20,487,859 (GRCm39) H847Y probably benign Het
Vmn2r15 T C 5: 109,445,401 (GRCm39) T8A probably benign Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign Het
Zbtb41 T G 1: 139,366,769 (GRCm39) F583V probably damaging Het
Zfp938 T A 10: 82,061,253 (GRCm39) I456F probably benign Het
Other mutations in Ccser2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Ccser2 APN 14 36,662,021 (GRCm39) missense probably damaging 1.00
IGL01285:Ccser2 APN 14 36,660,626 (GRCm39) missense probably damaging 1.00
IGL01622:Ccser2 APN 14 36,662,920 (GRCm39) missense probably benign 0.03
IGL01623:Ccser2 APN 14 36,662,920 (GRCm39) missense probably benign 0.03
IGL02322:Ccser2 APN 14 36,631,086 (GRCm39) missense probably damaging 1.00
IGL02342:Ccser2 APN 14 36,640,562 (GRCm39) splice site probably benign
IGL02899:Ccser2 APN 14 36,662,716 (GRCm39) missense probably benign 0.39
R0433:Ccser2 UTSW 14 36,640,486 (GRCm39) missense probably damaging 1.00
R0543:Ccser2 UTSW 14 36,662,149 (GRCm39) missense probably benign
R0674:Ccser2 UTSW 14 36,640,548 (GRCm39) missense possibly damaging 0.94
R0853:Ccser2 UTSW 14 36,662,367 (GRCm39) missense probably benign 0.18
R1748:Ccser2 UTSW 14 36,618,271 (GRCm39) nonsense probably null
R1748:Ccser2 UTSW 14 36,618,270 (GRCm39) missense probably damaging 1.00
R1854:Ccser2 UTSW 14 36,640,548 (GRCm39) missense possibly damaging 0.94
R2405:Ccser2 UTSW 14 36,660,626 (GRCm39) missense probably damaging 1.00
R2926:Ccser2 UTSW 14 36,601,518 (GRCm39) missense possibly damaging 0.91
R3846:Ccser2 UTSW 14 36,662,245 (GRCm39) missense probably benign
R4298:Ccser2 UTSW 14 36,612,337 (GRCm39) missense possibly damaging 0.63
R4701:Ccser2 UTSW 14 36,660,654 (GRCm39) missense probably damaging 1.00
R4746:Ccser2 UTSW 14 36,631,082 (GRCm39) missense probably damaging 1.00
R4888:Ccser2 UTSW 14 36,662,343 (GRCm39) missense probably damaging 0.98
R4959:Ccser2 UTSW 14 36,662,753 (GRCm39) missense probably benign 0.00
R5020:Ccser2 UTSW 14 36,662,134 (GRCm39) missense probably benign 0.00
R5179:Ccser2 UTSW 14 36,601,308 (GRCm39) missense possibly damaging 0.79
R5378:Ccser2 UTSW 14 36,601,391 (GRCm39) missense possibly damaging 0.65
R6011:Ccser2 UTSW 14 36,601,532 (GRCm39) missense probably benign 0.17
R6057:Ccser2 UTSW 14 36,663,122 (GRCm39) missense probably damaging 0.98
R6180:Ccser2 UTSW 14 36,662,276 (GRCm39) missense probably benign
R6216:Ccser2 UTSW 14 36,662,465 (GRCm39) missense probably damaging 1.00
R6244:Ccser2 UTSW 14 36,662,675 (GRCm39) missense probably benign 0.00
R6266:Ccser2 UTSW 14 36,601,632 (GRCm39) missense probably damaging 1.00
R6730:Ccser2 UTSW 14 36,601,043 (GRCm39) missense probably damaging 1.00
R6862:Ccser2 UTSW 14 36,662,038 (GRCm39) missense probably benign
R7025:Ccser2 UTSW 14 36,661,964 (GRCm39) missense probably damaging 1.00
R7076:Ccser2 UTSW 14 36,661,786 (GRCm39) missense probably benign 0.14
R7092:Ccser2 UTSW 14 36,662,612 (GRCm39) missense probably benign 0.03
R7353:Ccser2 UTSW 14 36,663,100 (GRCm39) missense possibly damaging 0.91
R7440:Ccser2 UTSW 14 36,620,174 (GRCm39) missense possibly damaging 0.92
R7509:Ccser2 UTSW 14 36,660,602 (GRCm39) missense probably damaging 1.00
R7555:Ccser2 UTSW 14 36,601,457 (GRCm39) missense possibly damaging 0.65
R7770:Ccser2 UTSW 14 36,648,831 (GRCm39) missense probably damaging 1.00
R8103:Ccser2 UTSW 14 36,618,240 (GRCm39) missense probably damaging 1.00
R8194:Ccser2 UTSW 14 36,618,220 (GRCm39) missense probably damaging 1.00
R8356:Ccser2 UTSW 14 36,612,331 (GRCm39) missense probably benign 0.00
R8456:Ccser2 UTSW 14 36,612,331 (GRCm39) missense probably benign 0.00
R8805:Ccser2 UTSW 14 36,601,712 (GRCm39) missense probably damaging 1.00
R8890:Ccser2 UTSW 14 36,601,352 (GRCm39) missense probably damaging 0.98
R8994:Ccser2 UTSW 14 36,662,076 (GRCm39) missense probably benign 0.06
R9274:Ccser2 UTSW 14 36,660,737 (GRCm39) missense possibly damaging 0.54
R9425:Ccser2 UTSW 14 36,601,163 (GRCm39) missense probably benign 0.01
R9502:Ccser2 UTSW 14 36,631,090 (GRCm39) missense probably benign 0.01
R9644:Ccser2 UTSW 14 36,601,150 (GRCm39) missense possibly damaging 0.90
X0066:Ccser2 UTSW 14 36,662,956 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACAATCTGCTGCCAGGAACTGAAC -3'
(R):5'- GAAAGGAGTGAGCGCACCTCTAAC -3'

Sequencing Primer
(F):5'- TGCCAGGAACTGAACTGATCC -3'
(R):5'- CAGTTTTGCTAACAGGCAAGC -3'
Posted On 2013-11-08