Incidental Mutation 'R0375:Carf'
ID 30668
Institutional Source Beutler Lab
Gene Symbol Carf
Ensembl Gene ENSMUSG00000026017
Gene Name calcium response factor
Synonyms Als2cr8
MMRRC Submission 038581-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0375 (G1)
Quality Score 200
Status Validated
Chromosome 1
Chromosomal Location 60137406-60193112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60183161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 386 (V386A)
Ref Sequence ENSEMBL: ENSMUSP00000027171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027171] [ENSMUST00000130075] [ENSMUST00000180952] [ENSMUST00000186107] [ENSMUST00000187978]
AlphaFold Q8VHI4
Predicted Effect probably damaging
Transcript: ENSMUST00000027171
AA Change: V386A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: V386A

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 damaging
Transcript: ENSMUST00000180952
AA Change: V421A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: V421A

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 noncoding transcript
Transcript: ENSMUST00000186779
Predicted Effect probably damaging
Transcript: ENSMUST00000187978
AA Change: V421A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: V421A

DomainStartEndE-ValueType
Pfam:ALS2CR8 224 458 1.2e-64 PFAM
Meta Mutation Damage Score 0.3639 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.7%
Validation Efficiency 100% (61/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik T A 11: 25,719,092 (GRCm39) Y17F unknown Het
Aars2 A G 17: 45,825,476 (GRCm39) D313G probably damaging Het
Abca9 A T 11: 110,006,273 (GRCm39) D1277E probably benign Het
Adgrl1 G T 8: 84,661,530 (GRCm39) A981S probably damaging Het
Aff3 T G 1: 38,244,021 (GRCm39) K917Q possibly damaging Het
BC049715 A T 6: 136,816,994 (GRCm39) H78L probably benign Het
Bltp1 C T 3: 37,100,401 (GRCm39) T4707I probably damaging Het
Cacna1g C A 11: 94,301,880 (GRCm39) A2027S possibly damaging Het
Camk1g G A 1: 193,038,709 (GRCm39) probably benign Het
Cd46 A G 1: 194,768,472 (GRCm39) S82P probably benign Het
Clic5 A G 17: 44,581,510 (GRCm39) E180G possibly damaging Het
Col27a1 A G 4: 63,143,898 (GRCm39) T529A probably benign Het
Col7a1 C T 9: 108,809,305 (GRCm39) R2627C unknown Het
Cuzd1 G A 7: 130,913,637 (GRCm39) probably benign Het
Cwc27 T C 13: 104,944,331 (GRCm39) D50G possibly damaging Het
Dhx38 A G 8: 110,281,813 (GRCm39) V735A possibly damaging Het
Dhx57 T G 17: 80,565,550 (GRCm39) E834A probably damaging Het
Dsg4 A G 18: 20,603,936 (GRCm39) D801G probably damaging Het
Dtx1 T C 5: 120,819,464 (GRCm39) E578G probably damaging Het
F830016B08Rik A T 18: 60,433,265 (GRCm39) H116L probably damaging Het
Fbxw18 T C 9: 109,517,907 (GRCm39) I360V possibly damaging Het
Fignl2 G A 15: 100,951,974 (GRCm39) P103S probably benign Het
Frmpd1 A G 4: 45,284,196 (GRCm39) T1006A probably benign Het
Ggnbp2 G T 11: 84,727,200 (GRCm39) C545* probably null Het
Gm3336 A G 8: 71,171,294 (GRCm39) probably benign Het
Gpr37 T C 6: 25,669,290 (GRCm39) N518S probably benign Het
Hbs1l T A 10: 21,218,440 (GRCm39) D312E possibly damaging Het
Hoxd10 C A 2: 74,523,064 (GRCm39) S247R probably benign Het
Ifnb1 A T 4: 88,440,981 (GRCm39) F11I probably benign Het
Marf1 T C 16: 13,969,184 (GRCm39) probably benign Het
Myo1f T A 17: 33,820,930 (GRCm39) V879E probably benign Het
Naip1 A G 13: 100,545,656 (GRCm39) F1291L probably benign Het
Nckap1l A G 15: 103,382,586 (GRCm39) E529G probably damaging Het
Npm3 T C 19: 45,736,668 (GRCm39) E157G probably damaging Het
Or10x4 A G 1: 174,218,775 (GRCm39) T47A probably damaging Het
Or4a67 T A 2: 88,597,985 (GRCm39) T225S possibly damaging Het
Or4a68 G T 2: 89,269,740 (GRCm39) N294K probably benign Het
Pex16 G A 2: 92,210,802 (GRCm39) G312D probably damaging Het
Ppp6r1 A G 7: 4,636,286 (GRCm39) V768A probably benign Het
Prrc1 A G 18: 57,495,564 (GRCm39) T14A probably damaging Het
Ranbp2 T C 10: 58,313,105 (GRCm39) L1275P probably damaging Het
Rnf214 C A 9: 45,811,121 (GRCm39) V181F probably damaging Het
Ror2 T C 13: 53,286,040 (GRCm39) N58S probably damaging Het
Selplg G A 5: 113,958,069 (GRCm39) T79I probably damaging Het
Setd1b G A 5: 123,295,500 (GRCm39) G1023S unknown Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Skint5 A G 4: 113,562,793 (GRCm39) V803A unknown Het
Slc25a46 T C 18: 31,716,319 (GRCm39) I394M possibly damaging Het
Snrnp27 A T 6: 86,657,935 (GRCm39) I101K possibly damaging Het
Spag17 C A 3: 99,934,906 (GRCm39) T704K probably benign Het
Tas2r144 T A 6: 42,193,058 (GRCm39) M266K possibly damaging Het
Tasor2 A G 13: 3,646,842 (GRCm39) V61A possibly damaging Het
Tbc1d31 T A 15: 57,818,746 (GRCm39) L783H probably benign Het
Tbck C A 3: 132,456,993 (GRCm39) probably benign Het
Vcan A G 13: 89,839,394 (GRCm39) V2050A probably damaging Het
Vmn1r70 T A 7: 10,367,987 (GRCm39) N158K probably damaging Het
Vmn2r103 T A 17: 20,013,121 (GRCm39) Y81N probably benign Het
Vmn2r103 A G 17: 20,013,726 (GRCm39) T173A probably benign Het
Ylpm1 T G 12: 85,061,754 (GRCm39) S552A unknown Het
Zdhhc17 A T 10: 110,817,967 (GRCm39) Y58* probably null 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
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
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 PCR Primer
(F):5'- GCTTTGAACCAGTGAAACAGCACC -3'
(R):5'- ACAGGAGCTGAGATGCTCTAATGAGAC -3'

Sequencing Primer
(F):5'- AACCTGTGTGAATTCTATTGCC -3'
(R):5'- TGCTCTAATGAGACAAAGAAGTGG -3'
Posted On 2013-04-24