Incidental Mutation 'R7459:Carf'
ID 578285
Institutional Source Beutler Lab
Gene Symbol Carf
Ensembl Gene ENSMUSG00000026017
Gene Name calcium response factor
Synonyms Als2cr8
MMRRC Submission 045533-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7459 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 60137406-60193112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 60167198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 177 (T177K)
Ref Sequence ENSEMBL: ENSMUSP00000137825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027171] [ENSMUST00000124986] [ENSMUST00000130075] [ENSMUST00000180952] [ENSMUST00000186107] [ENSMUST00000187978]
AlphaFold Q8VHI4
Predicted Effect probably damaging
Transcript: ENSMUST00000027171
AA Change: T142K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: T142K

DomainStartEndE-ValueType
Pfam:ALS2CR8 227 457 6.4e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124986
Predicted Effect probably benign
Transcript: ENSMUST00000130075
Predicted Effect possibly damaging
Transcript: ENSMUST00000180952
AA Change: T177K

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: T177K

DomainStartEndE-ValueType
Pfam:ALS2CR8 224 458 1.2e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186107
AA Change: T142K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139554
Gene: ENSMUSG00000026017
AA Change: T142K

DomainStartEndE-ValueType
low complexity region 239 255 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000187978
AA Change: T177K

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: T177K

DomainStartEndE-ValueType
Pfam:ALS2CR8 224 458 1.2e-64 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,756,933 (GRCm39) V730E probably damaging Het
Agbl1 G A 7: 76,069,814 (GRCm39) D449N not run Het
Agr2 A T 12: 36,047,452 (GRCm39) E96V probably benign Het
Atp1a2 A C 1: 172,114,862 (GRCm39) S308A probably benign Het
Birc7 T C 2: 180,571,150 (GRCm39) S71P possibly damaging Het
Brme1 T G 8: 84,893,981 (GRCm39) S383A probably benign Het
Camk2g T C 14: 20,829,275 (GRCm39) I73V probably damaging Het
Ccdc191 C T 16: 43,767,820 (GRCm39) Q665* probably null Het
Cd79a A T 7: 24,598,567 (GRCm39) T39S possibly damaging Het
Ces5a C A 8: 94,262,369 (GRCm39) probably benign Het
Dkk2 C A 3: 131,880,790 (GRCm39) T145N probably benign Het
Dot1l C T 10: 80,609,007 (GRCm39) A188V probably damaging Het
Egfr T A 11: 16,846,967 (GRCm39) V788D probably damaging Het
Esyt3 T A 9: 99,240,117 (GRCm39) H109L probably benign Het
Fam234b C T 6: 135,188,899 (GRCm39) T168I probably benign Het
Fan1 G T 7: 63,998,714 (GRCm39) S936Y probably damaging Het
Fat2 T C 11: 55,194,745 (GRCm39) E1098G probably damaging Het
Fcgbp A G 7: 27,806,710 (GRCm39) D2226G possibly damaging Het
Flacc1 T G 1: 58,730,911 (GRCm39) E48D possibly damaging Het
Flvcr2 T C 12: 85,793,831 (GRCm39) V69A probably benign Het
Foxb2 T A 19: 16,850,436 (GRCm39) H190L unknown Het
Fut4 C T 9: 14,662,602 (GRCm39) V231M possibly damaging Het
Gtf2a1 G A 12: 91,542,426 (GRCm39) A91V probably benign Het
Hip1 A G 5: 135,443,151 (GRCm39) S961P probably damaging Het
Hsf2bp C T 17: 32,165,708 (GRCm39) V296M probably benign Het
Hspbp1 G T 7: 4,687,577 (GRCm39) H11Q probably benign Het
Ighv1-84 C T 12: 115,944,432 (GRCm39) E81K probably benign Het
Isg20l2 T C 3: 87,839,485 (GRCm39) L232P possibly damaging Het
Isx A G 8: 75,619,392 (GRCm39) Y181C probably benign Het
Kif9 A G 9: 110,348,109 (GRCm39) Y644C probably damaging Het
Lin7c T A 2: 109,727,682 (GRCm39) V177D probably benign Het
Lpin3 T C 2: 160,739,220 (GRCm39) S343P probably benign Het
Mat1a A T 14: 40,842,141 (GRCm39) Q246L probably benign Het
Mlkl T C 8: 112,060,162 (GRCm39) I75V probably benign Het
Ndufa7 T A 17: 34,057,140 (GRCm39) S107T probably damaging Het
Niban3 T A 8: 72,057,671 (GRCm39) C516S possibly damaging Het
Nip7 T A 8: 107,783,968 (GRCm39) C69* probably null Het
Nipa2 A T 7: 55,583,089 (GRCm39) W219R probably damaging Het
Oas2 A C 5: 120,887,775 (GRCm39) S22A unknown Het
Obscn A G 11: 59,022,483 (GRCm39) V754A probably benign Het
Or4a76 G A 2: 89,461,012 (GRCm39) P77S probably damaging Het
Osbpl1a C T 18: 13,066,642 (GRCm39) C39Y probably damaging Het
Pcdhb16 A T 18: 37,612,606 (GRCm39) Y522F probably benign Het
Pced1a T G 2: 130,261,744 (GRCm39) D303A possibly damaging Het
Peli1 T A 11: 21,098,190 (GRCm39) Y308* probably null Het
Pfas T A 11: 68,879,481 (GRCm39) R243W Het
Pik3r5 C A 11: 68,383,416 (GRCm39) Q412K probably benign Het
Pkd1l1 A T 11: 8,852,428 (GRCm39) I1135N Het
Prune1 C A 3: 95,189,021 (GRCm39) probably benign Het
Ptpn4 T A 1: 119,587,564 (GRCm39) K926N probably damaging Het
Ptpre A G 7: 135,269,329 (GRCm39) N277S probably benign Het
Raver2 A T 4: 100,964,410 (GRCm39) D255V possibly damaging Het
Rgs20 A G 1: 4,980,857 (GRCm39) V187A probably benign Het
Rgs3 A G 4: 62,543,391 (GRCm39) E242G probably benign Het
Rims2 T G 15: 39,381,235 (GRCm39) S1055R probably benign Het
Rnf146 T C 10: 29,223,640 (GRCm39) D82G probably benign Het
Rpgrip1 A G 14: 52,378,016 (GRCm39) S455G probably benign Het
Samm50 T C 15: 84,080,057 (GRCm39) probably null Het
Sh3bgr A G 16: 96,007,122 (GRCm39) K31E probably benign Het
Slc39a8 T C 3: 135,592,672 (GRCm39) I449T probably damaging Het
Slc5a3 A T 16: 91,875,905 (GRCm39) Y654F probably benign Het
Spata1 T A 3: 146,181,977 (GRCm39) L264F possibly damaging Het
Spats2l A T 1: 57,838,512 (GRCm39) probably benign Het
Stard13 A C 5: 150,971,064 (GRCm39) S848A probably damaging Het
Stat2 A G 10: 128,112,434 (GRCm39) S25G possibly damaging Het
Tet2 C T 3: 133,186,050 (GRCm39) R1129Q possibly damaging Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tmem266 T C 9: 55,303,883 (GRCm39) L3P unknown Het
Tns3 A T 11: 8,442,793 (GRCm39) D523E probably benign Het
Trim3 A T 7: 105,267,015 (GRCm39) S455T probably damaging Het
Trim31 T C 17: 37,220,554 (GRCm39) V490A probably damaging Het
Trmt11 A C 10: 30,466,039 (GRCm39) N168K probably benign Het
Trpc4 G A 3: 54,198,653 (GRCm39) V526M probably damaging Het
Ttn C A 2: 76,749,482 (GRCm39) D3856Y possibly damaging Het
Tulp2 G A 7: 45,169,227 (GRCm39) D377N probably damaging Het
Ubl7 A G 9: 57,821,875 (GRCm39) T75A probably damaging Het
Ugt2b34 T G 5: 87,049,134 (GRCm39) D297A possibly damaging Het
Usp34 A T 11: 23,314,458 (GRCm39) H800L possibly damaging Het
Utp3 C A 5: 88,703,412 (GRCm39) L314M probably damaging Het
Zer1 A G 2: 30,003,337 (GRCm39) Y27H probably damaging 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
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
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'- ACATGTGTGCCCATACAGTAC -3'
(R):5'- CTATGAGAGACTTCTGCTCTGTC -3'

Sequencing Primer
(F):5'- GTGTGCCCATACAGTACAATATTAC -3'
(R):5'- ACTTTGTAGACCAAGCTGGC -3'
Posted On 2019-10-07