Incidental Mutation 'R1158:Carf'
ID 101843
Institutional Source Beutler Lab
Gene Symbol Carf
Ensembl Gene ENSMUSG00000026017
Gene Name calcium response factor
Synonyms Als2cr8
MMRRC Submission 039231-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1158 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 60137406-60193112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60186998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 499 (K499E)
Ref Sequence ENSEMBL: ENSMUSP00000027171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027171] [ENSMUST00000130075] [ENSMUST00000180952] [ENSMUST00000186107] [ENSMUST00000187978]
AlphaFold Q8VHI4
Predicted Effect probably benign
Transcript: ENSMUST00000027171
AA Change: K499E

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: K499E

DomainStartEndE-ValueType
Pfam:ALS2CR8 227 457 6.4e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130075
Predicted Effect probably benign
Transcript: ENSMUST00000132949
Predicted Effect probably benign
Transcript: ENSMUST00000180952
AA Change: K534E

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: K534E

DomainStartEndE-ValueType
Pfam:ALS2CR8 224 458 1.2e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186107
SMART Domains Protein: ENSMUSP00000139554
Gene: ENSMUSG00000026017

DomainStartEndE-ValueType
low complexity region 239 255 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187978
AA Change: K534E

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: K534E

DomainStartEndE-ValueType
Pfam:ALS2CR8 224 458 1.2e-64 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 98% (43/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adpgk T C 9: 59,217,566 (GRCm39) V193A possibly damaging Het
Ahnak A C 19: 8,991,290 (GRCm39) E4191D probably benign Het
BC024139 T A 15: 76,004,542 (GRCm39) probably benign Het
Bpifb9a T G 2: 154,104,184 (GRCm39) I209S probably benign Het
Bst1 T G 5: 43,997,834 (GRCm39) probably null Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Casq2 A G 3: 102,024,199 (GRCm39) E147G probably damaging Het
Cd8a T A 6: 71,350,712 (GRCm39) V59D probably damaging Het
Chrm5 T C 2: 112,310,214 (GRCm39) T301A probably benign Het
Cog5 G A 12: 31,920,056 (GRCm39) probably benign Het
Csmd3 T C 15: 48,156,170 (GRCm39) probably null Het
Dop1a T C 9: 86,367,609 (GRCm39) S31P probably damaging Het
Eif1ad9 A T 12: 88,296,438 (GRCm39) I139F unknown Het
Epb41 T C 4: 131,727,502 (GRCm39) probably benign Het
Fhod3 C T 18: 25,118,293 (GRCm39) A210V probably damaging Het
Gdpgp1 T C 7: 79,888,250 (GRCm39) F94L probably benign Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Htr3b T C 9: 48,847,390 (GRCm39) K375R possibly damaging Het
Inhbe G A 10: 127,187,186 (GRCm39) R77W probably damaging Het
Itgb8 T C 12: 119,166,231 (GRCm39) E100G probably damaging Het
Jakmip1 T C 5: 37,248,472 (GRCm39) V44A possibly damaging Het
Lrp12 A G 15: 39,741,827 (GRCm39) V315A probably damaging Het
Lrp1b T A 2: 40,567,506 (GRCm39) T305S unknown Het
Map3k2 A G 18: 32,350,211 (GRCm39) T354A probably benign Het
Mmp16 T C 4: 17,987,726 (GRCm39) probably null Het
Mphosph10 T C 7: 64,038,607 (GRCm39) probably benign Het
Or10a48 A G 7: 108,424,385 (GRCm39) S274P probably damaging Het
Or10ak7 A T 4: 118,791,614 (GRCm39) C144S probably damaging Het
Or4c52 T A 2: 89,845,598 (GRCm39) I108N possibly damaging Het
Or4k47 T C 2: 111,452,086 (GRCm39) E111G probably damaging Het
Or5p52 G A 7: 107,502,130 (GRCm39) V69I possibly damaging Het
Slc43a3 C A 2: 84,768,140 (GRCm39) F37L probably benign Het
Slf2 G T 19: 44,919,855 (GRCm39) A36S probably damaging Het
Sorcs1 T C 19: 50,132,598 (GRCm39) probably benign Het
Thsd7b A C 1: 130,117,672 (GRCm39) probably null Het
Tnfrsf18 A C 4: 156,112,739 (GRCm39) I142L probably benign Het
Ttn A G 2: 76,632,855 (GRCm39) probably benign Het
Tufm T A 7: 126,088,614 (GRCm39) probably null Het
Vmn2r69 A T 7: 85,059,058 (GRCm39) probably benign Het
Zfp385c T C 11: 100,520,709 (GRCm39) probably benign Het
Zfp964 T A 8: 70,116,503 (GRCm39) C368S unknown Het
Zswim8 G A 14: 20,771,736 (GRCm39) 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
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
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 2014-01-15