Incidental Mutation 'R1467:Carf'
ID 164527
Institutional Source Beutler Lab
Gene Symbol Carf
Ensembl Gene ENSMUSG00000026017
Gene Name calcium response factor
Synonyms Als2cr8
MMRRC Submission 039520-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1467 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 60137406-60193112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 60167152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 127 (V127I)
Ref Sequence ENSEMBL: ENSMUSP00000139554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027171] [ENSMUST00000124986] [ENSMUST00000130075] [ENSMUST00000180952] [ENSMUST00000186107] [ENSMUST00000187978]
AlphaFold Q8VHI4
Predicted Effect probably benign
Transcript: ENSMUST00000027171
AA Change: V127I

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: V127I

DomainStartEndE-ValueType
Pfam:ALS2CR8 227 457 6.4e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124986
Predicted Effect probably benign
Transcript: ENSMUST00000130075
Predicted Effect probably benign
Transcript: ENSMUST00000180952
AA Change: V162I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: V162I

DomainStartEndE-ValueType
Pfam:ALS2CR8 224 458 1.2e-64 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000186107
AA Change: V127I

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139554
Gene: ENSMUSG00000026017
AA Change: V127I

DomainStartEndE-ValueType
low complexity region 239 255 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187978
AA Change: V162I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: V162I

DomainStartEndE-ValueType
Pfam:ALS2CR8 224 458 1.2e-64 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.1%
  • 10x: 88.5%
  • 20x: 62.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele have aberrant learning and memory. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Gene trapped(2)

Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik C A 9: 124,058,093 (GRCm39) V9L possibly damaging Het
A630010A05Rik C A 16: 14,436,447 (GRCm39) L167I possibly damaging Het
Abca14 A T 7: 119,815,405 (GRCm39) M218L possibly damaging Het
Abca15 C A 7: 119,939,761 (GRCm39) probably null Het
Acod1 T C 14: 103,292,003 (GRCm39) F176L probably benign Het
Actr5 A G 2: 158,480,617 (GRCm39) H545R probably benign Het
Adcy1 A G 11: 7,088,396 (GRCm39) T472A probably damaging Het
Aldh1l1 A G 6: 90,548,910 (GRCm39) K469R possibly damaging Het
Ambra1 A T 2: 91,716,048 (GRCm39) Q853L probably damaging Het
Apol7e G T 15: 77,601,966 (GRCm39) G188V probably damaging Het
AU018091 A T 7: 3,214,089 (GRCm39) W43R probably benign Het
Baat A G 4: 49,503,101 (GRCm39) V7A probably benign Het
Bcas1 C A 2: 170,229,852 (GRCm39) Q249H possibly damaging Het
Bltp1 T A 3: 37,090,094 (GRCm39) V676D probably damaging Het
Bptf G T 11: 106,945,881 (GRCm39) Q2453K possibly damaging Het
Btg3 A G 16: 78,161,688 (GRCm39) probably null Het
Cacna2d3 T C 14: 29,055,736 (GRCm39) N298S possibly damaging Het
Catsperg1 T C 7: 28,884,433 (GRCm39) S916G probably damaging Het
Cers1 T C 8: 70,775,819 (GRCm39) S274P possibly damaging Het
Ces4a T A 8: 105,864,667 (GRCm39) V48E possibly damaging Het
Cfap54 T A 10: 92,805,625 (GRCm39) H1495L probably benign Het
Cntnap5a T A 1: 115,612,898 (GRCm39) L11* probably null Het
Cr2 C T 1: 194,839,817 (GRCm39) G913R probably damaging Het
Cul9 A G 17: 46,836,299 (GRCm39) L1155P probably damaging Het
Dlec1 A T 9: 118,971,646 (GRCm39) D1278V probably damaging Het
Dmrt2 A G 19: 25,650,970 (GRCm39) E52G possibly damaging Het
Dsp A G 13: 38,376,688 (GRCm39) K1491R probably benign Het
Ecpas A G 4: 58,832,753 (GRCm39) V869A probably benign Het
Eef1d A T 15: 75,767,770 (GRCm39) D206E probably damaging Het
Erbb2 C T 11: 98,327,001 (GRCm39) Q1137* probably null Het
Ercc2 T A 7: 19,119,811 (GRCm39) D157E probably benign Het
Eri1 A G 8: 35,936,284 (GRCm39) *346Q probably null Het
Espl1 A G 15: 102,228,293 (GRCm39) E1689G probably benign Het
Fap C T 2: 62,347,964 (GRCm39) V539I probably benign Het
Fasn A G 11: 120,701,866 (GRCm39) F1871S probably benign Het
Gabpb1 T G 2: 126,494,247 (GRCm39) Y126S probably damaging Het
Grm1 T C 10: 10,595,702 (GRCm39) Y642C probably damaging Het
Heatr4 T C 12: 84,024,841 (GRCm39) T327A possibly damaging Het
Hmbox1 T C 14: 65,099,027 (GRCm39) D212G possibly damaging Het
Hmcn1 T A 1: 150,565,341 (GRCm39) D2262V probably damaging Het
Hoxb9 A G 11: 96,162,764 (GRCm39) T133A probably benign Het
Insr A T 8: 3,219,720 (GRCm39) V934E probably damaging Het
Ipo9 T C 1: 135,334,281 (GRCm39) E315G possibly damaging Het
Itga10 C T 3: 96,559,545 (GRCm39) Q481* probably null Het
Kntc1 T A 5: 123,925,047 (GRCm39) M1120K probably benign Het
Krt78 A G 15: 101,854,728 (GRCm39) Y1028H possibly damaging Het
Lrrc38 A T 4: 143,096,450 (GRCm39) I254F probably damaging Het
Lyrm7 A G 11: 54,741,215 (GRCm39) F40L probably damaging Het
Mfsd4b1 C T 10: 39,878,631 (GRCm39) S422N possibly damaging Het
Mlh3 A T 12: 85,284,374 (GRCm39) L1380* probably null Het
Mrpl24 C A 3: 87,829,744 (GRCm39) A110D probably benign Het
Mrps14 T C 1: 160,024,520 (GRCm39) V17A probably benign Het
Mtcl1 T C 17: 66,755,322 (GRCm39) D340G probably damaging Het
Neb T C 2: 52,120,059 (GRCm39) Y3900C probably damaging Het
Neurod4 T C 10: 130,106,473 (GRCm39) D267G probably benign Het
Nf1 A T 11: 79,319,452 (GRCm39) I536F possibly damaging Het
Nkg7 C T 7: 43,086,857 (GRCm39) P44S probably damaging Het
Or14c40 T C 7: 86,313,185 (GRCm39) V105A possibly damaging Het
Or4a67 T C 2: 88,597,832 (GRCm39) I276V probably benign Het
Pcif1 T C 2: 164,731,058 (GRCm39) Y404H probably benign Het
Pcnx2 A T 8: 126,480,289 (GRCm39) L2006Q possibly damaging Het
Pcnx3 A T 19: 5,724,922 (GRCm39) S821T possibly damaging Het
Pde8b T A 13: 95,170,680 (GRCm39) D662V probably damaging Het
Pkd1l3 C T 8: 110,343,000 (GRCm39) P113S unknown Het
Pkd2l1 G T 19: 44,142,648 (GRCm39) Q465K possibly damaging Het
Plch2 G T 4: 155,068,189 (GRCm39) P1479Q probably benign Het
Plekhm3 A T 1: 64,932,041 (GRCm39) I521N probably damaging Het
Pola2 A T 19: 5,992,093 (GRCm39) Y526* probably null Het
Prss23 T C 7: 89,159,217 (GRCm39) D284G probably damaging Het
Psme2b A G 11: 48,836,467 (GRCm39) F160S probably damaging Het
Rap1gap2 A G 11: 74,327,853 (GRCm39) V139A possibly damaging Het
Rbbp9 G T 2: 144,385,777 (GRCm39) R163S possibly damaging Het
Rdh12 T C 12: 79,260,522 (GRCm39) L206P probably damaging Het
Rhou T C 8: 124,388,029 (GRCm39) W254R possibly damaging Het
Scfd1 A G 12: 51,478,281 (GRCm39) K498E possibly damaging Het
Scn7a A G 2: 66,519,902 (GRCm39) Y1001H probably benign Het
Setx T A 2: 29,048,917 (GRCm39) V1981E probably damaging Het
Sfxn1 T C 13: 54,247,890 (GRCm39) I205T possibly damaging Het
Shld2 G T 14: 33,990,619 (GRCm39) H96N possibly damaging Het
Speer1g C T 5: 11,180,337 (GRCm39) H82Y probably damaging Het
Spock1 G A 13: 57,577,182 (GRCm39) R416C possibly damaging Het
Spred2 A G 11: 19,968,109 (GRCm39) I222V probably benign Het
Stkld1 A T 2: 26,839,407 (GRCm39) T358S probably benign Het
Strip1 T C 3: 107,534,724 (GRCm39) E102G possibly damaging Het
Tars3 T C 7: 65,305,444 (GRCm39) S223P probably damaging Het
Tdpoz1 T A 3: 93,578,637 (GRCm39) E49V probably benign Het
Tert A G 13: 73,776,328 (GRCm39) T360A probably benign Het
Tspear A G 10: 77,717,026 (GRCm39) Y567C probably damaging Het
Ttc28 A G 5: 111,433,254 (GRCm39) Q2096R probably benign Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Vmn2r111 T A 17: 22,790,028 (GRCm39) H326L probably damaging Het
Vmn2r18 A G 5: 151,510,301 (GRCm39) F24S possibly damaging Het
Vmn2r82 A T 10: 79,232,133 (GRCm39) I711F probably benign Het
Vwa8 C T 14: 79,341,134 (GRCm39) Q1537* probably null Het
Wdr64 G A 1: 175,603,288 (GRCm39) V630I probably benign Het
Wnt6 G T 1: 74,821,434 (GRCm39) W84L probably damaging Het
Zfp11 C A 5: 129,735,254 (GRCm39) R69L probably benign Het
Other mutations in Carf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Carf APN 1 60,164,001 (GRCm39) splice site probably benign
IGL00730:Carf APN 1 60,186,577 (GRCm39) nonsense probably null
IGL00792:Carf APN 1 60,165,168 (GRCm39) missense possibly damaging 0.73
IGL00913:Carf APN 1 60,187,114 (GRCm39) missense probably benign 0.20
IGL01487:Carf APN 1 60,148,538 (GRCm39) missense probably damaging 1.00
IGL02214:Carf APN 1 60,187,240 (GRCm39) missense probably damaging 1.00
IGL03258:Carf APN 1 60,148,388 (GRCm39) missense possibly damaging 0.93
IGL03285:Carf APN 1 60,185,313 (GRCm39) missense probably damaging 1.00
3-1:Carf UTSW 1 60,180,627 (GRCm39) missense possibly damaging 0.93
PIT4283001:Carf UTSW 1 60,167,161 (GRCm39) missense probably benign 0.32
R0375:Carf UTSW 1 60,183,161 (GRCm39) missense probably damaging 1.00
R0465:Carf UTSW 1 60,171,142 (GRCm39) missense probably damaging 1.00
R0591:Carf UTSW 1 60,165,073 (GRCm39) splice site probably benign
R1158:Carf UTSW 1 60,186,998 (GRCm39) missense probably benign 0.22
R1433:Carf UTSW 1 60,164,017 (GRCm39) missense probably damaging 1.00
R1464:Carf UTSW 1 60,165,065 (GRCm39) splice site probably benign
R1467:Carf UTSW 1 60,167,152 (GRCm39) missense possibly damaging 0.58
R1546:Carf UTSW 1 60,165,195 (GRCm39) critical splice donor site probably null
R1801:Carf UTSW 1 60,180,664 (GRCm39) missense possibly damaging 0.60
R1977:Carf UTSW 1 60,185,295 (GRCm39) missense probably damaging 1.00
R2086:Carf UTSW 1 60,148,570 (GRCm39) missense probably damaging 1.00
R2163:Carf UTSW 1 60,186,645 (GRCm39) splice site probably benign
R2198:Carf UTSW 1 60,180,643 (GRCm39) missense probably damaging 1.00
R2238:Carf UTSW 1 60,187,193 (GRCm39) missense probably benign
R2981:Carf UTSW 1 60,178,391 (GRCm39) missense probably damaging 1.00
R4090:Carf UTSW 1 60,175,506 (GRCm39) missense possibly damaging 0.94
R4573:Carf UTSW 1 60,187,271 (GRCm39) missense probably benign 0.39
R4737:Carf UTSW 1 60,148,477 (GRCm39) missense probably benign 0.00
R4906:Carf UTSW 1 60,180,526 (GRCm39) missense probably damaging 1.00
R4965:Carf UTSW 1 60,189,796 (GRCm39) missense probably damaging 0.99
R5080:Carf UTSW 1 60,189,772 (GRCm39) missense probably damaging 0.98
R5184:Carf UTSW 1 60,147,333 (GRCm39) missense probably damaging 0.99
R5949:Carf UTSW 1 60,178,472 (GRCm39) missense probably damaging 1.00
R6135:Carf UTSW 1 60,187,122 (GRCm39) missense probably damaging 1.00
R6346:Carf UTSW 1 60,180,699 (GRCm39) nonsense probably null
R6886:Carf UTSW 1 60,175,413 (GRCm39) splice site probably null
R7115:Carf UTSW 1 60,187,309 (GRCm39) missense probably damaging 1.00
R7228:Carf UTSW 1 60,148,553 (GRCm39) missense probably damaging 0.99
R7459:Carf UTSW 1 60,167,198 (GRCm39) missense possibly damaging 0.93
R7755:Carf UTSW 1 60,187,214 (GRCm39) missense probably benign 0.00
R7809:Carf UTSW 1 60,183,226 (GRCm39) missense probably damaging 0.98
R8053:Carf UTSW 1 60,167,197 (GRCm39) missense probably benign 0.42
R8137:Carf UTSW 1 60,187,124 (GRCm39) missense probably benign 0.00
R8423:Carf UTSW 1 60,189,752 (GRCm39) missense possibly damaging 0.95
R9155:Carf UTSW 1 60,189,842 (GRCm39) missense possibly damaging 0.85
R9177:Carf UTSW 1 60,148,558 (GRCm39) missense possibly damaging 0.61
R9215:Carf UTSW 1 60,189,804 (GRCm39) missense possibly damaging 0.62
R9268:Carf UTSW 1 60,148,558 (GRCm39) missense possibly damaging 0.61
R9750:Carf UTSW 1 60,171,158 (GRCm39) nonsense probably null
Z1177:Carf UTSW 1 60,175,421 (GRCm39) critical splice acceptor site probably null
Predicted Primers
Posted On 2014-03-28