Incidental Mutation 'R8221:C2cd4c'
ID 636702
Institutional Source Beutler Lab
Gene Symbol C2cd4c
Ensembl Gene ENSMUSG00000045912
Gene Name C2 calcium-dependent domain containing 4C
Synonyms 4932409I22Rik, LOC237397, Fam148c
MMRRC Submission 067639-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # R8221 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 79442688-79449859 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79448482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 222 (S222P)
Ref Sequence ENSEMBL: ENSMUSP00000059433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059699] [ENSMUST00000178228]
AlphaFold Q5HZI2
Predicted Effect probably damaging
Transcript: ENSMUST00000059699
AA Change: S222P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059433
Gene: ENSMUSG00000045912
AA Change: S222P

DomainStartEndE-ValueType
low complexity region 75 94 N/A INTRINSIC
low complexity region 174 193 N/A INTRINSIC
C2 319 419 1.19e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000178228
AA Change: S222P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136013
Gene: ENSMUSG00000045912
AA Change: S222P

DomainStartEndE-ValueType
low complexity region 75 94 N/A INTRINSIC
low complexity region 174 193 N/A INTRINSIC
C2 319 419 1.19e-4 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (74/74)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight but normal glucose homeostasis and pancreas development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,410,576 (GRCm39) F134S probably damaging Het
Acsl5 T C 19: 55,257,262 (GRCm39) probably null Het
Adam29 G T 8: 56,325,463 (GRCm39) N330K probably benign Het
Adgrv1 A G 13: 81,677,033 (GRCm39) S1933P probably benign Het
Afap1l2 T C 19: 56,902,824 (GRCm39) H785R probably damaging Het
Ahnak T A 19: 8,987,800 (GRCm39) L3028* probably null Het
Ajuba T C 14: 54,807,847 (GRCm39) T462A possibly damaging Het
Ankrd36 A G 11: 5,534,016 (GRCm39) N289S possibly damaging Het
Ankrd46 A T 15: 36,486,001 (GRCm39) L84Q probably damaging Het
Ankrd54 T G 15: 78,940,270 (GRCm39) D163A probably damaging Het
Arhgef28 A G 13: 98,282,064 (GRCm39) L10P probably benign Het
Atm A T 9: 53,367,288 (GRCm39) probably null Het
Azin1 G C 15: 38,492,572 (GRCm39) F312L probably damaging Het
Cdyl A G 13: 36,000,147 (GRCm39) T143A probably benign Het
Clhc1 G A 11: 29,503,751 (GRCm39) V56I possibly damaging Het
Cntn4 T C 6: 106,486,471 (GRCm39) S300P probably benign Het
Col12a1 A G 9: 79,551,224 (GRCm39) Y2131H probably damaging Het
Cyp3a41b A G 5: 145,506,190 (GRCm39) S287P probably benign Het
Dctn4 A G 18: 60,689,401 (GRCm39) D424G probably benign Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Dop1b A G 16: 93,546,847 (GRCm39) T284A probably benign Het
E330034G19Rik A C 14: 24,346,135 (GRCm39) probably null Het
Ehhadh G A 16: 21,581,373 (GRCm39) P540S possibly damaging Het
Emsy T C 7: 98,297,111 (GRCm39) E24G probably damaging Het
F930015N05Rik A C 11: 64,326,418 (GRCm39) L74W unknown Het
Fat1 A G 8: 45,406,390 (GRCm39) D1047G Het
Galnt7 A G 8: 58,005,600 (GRCm39) V211A possibly damaging Het
Gdap2 T C 3: 100,109,611 (GRCm39) C543R unknown Het
Ghr A C 15: 3,362,901 (GRCm39) D190E probably benign Het
Glrx A G 13: 75,995,346 (GRCm39) M89V probably benign Het
Gm10323 A C 13: 67,000,859 (GRCm39) Y91* noncoding transcript Het
Gnb4 A T 3: 32,644,184 (GRCm39) D153E possibly damaging Het
Gnptab G T 10: 88,276,254 (GRCm39) probably null Het
Grip2 T C 6: 91,762,665 (GRCm39) D193G possibly damaging Het
Igsf3 T C 3: 101,347,038 (GRCm39) W658R probably damaging Het
Ip6k1 T A 9: 107,923,115 (GRCm39) F416I probably benign Het
Klhl1 T G 14: 96,517,546 (GRCm39) T377P possibly damaging Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Lrrfip1 T C 1: 91,042,878 (GRCm39) S428P probably benign Het
Megf10 A G 18: 57,416,893 (GRCm39) D754G probably benign Het
Mrgprx2 T A 7: 48,132,527 (GRCm39) Y97F probably benign Het
Msantd2 T G 9: 37,400,684 (GRCm39) V22G probably damaging Het
Myl6b T C 10: 128,333,209 (GRCm39) K11R unknown Het
Nab2 C A 10: 127,498,645 (GRCm39) V475L probably benign Het
Npas1 T C 7: 16,189,890 (GRCm39) E552G probably damaging Het
Pknox2 T C 9: 36,821,040 (GRCm39) N274S possibly damaging Het
Pmepa1 A T 2: 173,069,700 (GRCm39) L247Q probably damaging Het
Poll T C 19: 45,542,047 (GRCm39) K420E probably damaging Het
Polr2a A G 11: 69,628,344 (GRCm39) V1283A probably benign Het
Ppil4 A T 10: 7,671,444 (GRCm39) Y36F probably benign Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Psd2 C T 18: 36,113,478 (GRCm39) R317W probably damaging Het
Pspc1 T A 14: 57,015,616 (GRCm39) M1L probably benign Het
Qrsl1 A T 10: 43,758,080 (GRCm39) F338I possibly damaging Het
Rcor3 A G 1: 191,814,749 (GRCm39) Y77H unknown Het
Sbno2 G A 10: 79,905,845 (GRCm39) P157L probably benign Het
Scn10a C T 9: 119,446,829 (GRCm39) V1400I probably damaging Het
Setd3 C G 12: 108,073,612 (GRCm39) G555A possibly damaging Het
Slc12a4 A T 8: 106,678,601 (GRCm39) M245K probably benign Het
Slc1a5 T A 7: 16,515,902 (GRCm39) L26Q probably benign Het
Slc38a3 T G 9: 107,534,908 (GRCm39) M156L probably damaging Het
Slc45a2 A T 15: 11,001,233 (GRCm39) I111F probably benign Het
Slc4a3 T A 1: 75,528,810 (GRCm39) M491K probably benign Het
Son A G 16: 91,453,734 (GRCm39) D827G probably damaging Het
Sppl2c A T 11: 104,077,710 (GRCm39) H170L probably damaging Het
St6gal2 T A 17: 55,797,935 (GRCm39) probably null Het
Taf4b T A 18: 15,031,106 (GRCm39) L830H probably damaging Het
Tex22 A G 12: 113,038,696 (GRCm39) probably null Het
Tiam2 C T 17: 3,568,860 (GRCm39) R1669C probably damaging Het
Tmprss15 T A 16: 78,821,223 (GRCm39) N506I probably damaging Het
Topors A T 4: 40,260,686 (GRCm39) I866K unknown Het
Trip12 G T 1: 84,743,771 (GRCm39) T512K possibly damaging Het
Ubr1 T A 2: 120,791,585 (GRCm39) H133L probably damaging Het
Wwtr1 T C 3: 57,366,441 (GRCm39) D422G probably damaging Het
Zfp689 A C 7: 127,043,758 (GRCm39) C291G probably damaging Het
Zfyve9 A G 4: 108,576,877 (GRCm39) L68P possibly damaging Het
Zswim5 G T 4: 116,735,219 (GRCm39) R188L probably benign Het
Other mutations in C2cd4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02660:C2cd4c APN 10 79,449,136 (GRCm39) missense probably benign
IGL02950:C2cd4c APN 10 79,448,665 (GRCm39) missense probably damaging 1.00
R0400:C2cd4c UTSW 10 79,449,043 (GRCm39) missense probably damaging 1.00
R0925:C2cd4c UTSW 10 79,448,584 (GRCm39) missense probably benign
R1428:C2cd4c UTSW 10 79,448,064 (GRCm39) missense probably damaging 0.97
R2017:C2cd4c UTSW 10 79,448,823 (GRCm39) missense possibly damaging 0.69
R2111:C2cd4c UTSW 10 79,448,255 (GRCm39) missense probably damaging 1.00
R4951:C2cd4c UTSW 10 79,448,839 (GRCm39) missense possibly damaging 0.93
R4982:C2cd4c UTSW 10 79,449,075 (GRCm39) missense probably benign 0.01
R5006:C2cd4c UTSW 10 79,448,341 (GRCm39) missense probably benign 0.12
R5281:C2cd4c UTSW 10 79,448,878 (GRCm39) missense probably benign 0.00
R5699:C2cd4c UTSW 10 79,448,385 (GRCm39) missense probably benign 0.00
R5870:C2cd4c UTSW 10 79,448,043 (GRCm39) missense possibly damaging 0.93
R9753:C2cd4c UTSW 10 79,448,067 (GRCm39) missense probably damaging 1.00
Z1176:C2cd4c UTSW 10 79,448,299 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- GTGCCCATCTTCACTGTGTG -3'
(R):5'- CTTTTCCACAGTGAGCACGG -3'

Sequencing Primer
(F):5'- TGCTCTCCACGTGGTGC -3'
(R):5'- CAGTGAGCACGGGGCCC -3'
Posted On 2020-07-13