Incidental Mutation 'R3547:Mcf2'
ID 268282
Institutional Source Beutler Lab
Gene Symbol Mcf2
Ensembl Gene ENSMUSG00000031139
Gene Name mcf.2 transforming sequence
Synonyms B230117G22Rik, Dbl
MMRRC Submission 040666-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3547 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 59101316-59224449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59180806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 74 (K74R)
Ref Sequence ENSEMBL: ENSMUSP00000033478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033478] [ENSMUST00000063507] [ENSMUST00000101531] [ENSMUST00000228150]
AlphaFold Q8BLE2
Predicted Effect probably damaging
Transcript: ENSMUST00000033478
AA Change: K74R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033478
Gene: ENSMUSG00000031139
AA Change: K74R

DomainStartEndE-ValueType
Pfam:CRAL_TRIO_2 10 89 4.4e-10 PFAM
SPEC 221 322 2.74e-2 SMART
coiled coil region 395 419 N/A INTRINSIC
RhoGEF 514 689 1.3e-62 SMART
PH 709 826 1.43e-9 SMART
low complexity region 835 850 N/A INTRINSIC
low complexity region 888 901 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000063507
AA Change: K177R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067075
Gene: ENSMUSG00000031139
AA Change: K177R

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
SEC14 122 268 5.71e-19 SMART
SPEC 404 505 2.74e-2 SMART
coiled coil region 578 602 N/A INTRINSIC
RhoGEF 681 856 1.3e-62 SMART
PH 876 993 1.43e-9 SMART
low complexity region 1002 1017 N/A INTRINSIC
low complexity region 1055 1068 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000101531
AA Change: K74R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099070
Gene: ENSMUSG00000031139
AA Change: K74R

DomainStartEndE-ValueType
Pfam:CRAL_TRIO_2 10 89 9.5e-10 PFAM
SPEC 221 322 2.74e-2 SMART
coiled coil region 395 419 N/A INTRINSIC
RhoGEF 498 673 1.3e-62 SMART
PH 693 810 1.43e-9 SMART
low complexity region 819 834 N/A INTRINSIC
low complexity region 872 885 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000228150
AA Change: K257R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.1559 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have been found for this gene. These isoforms exhibit different expression patterns and varying levels of GEF activity.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous and hemizygous null mice are viable, fertile and behaviorally normal, exhibit normal gonad and brain development and neuronal migration, but show a significant reduction of basal dendritic length in distinct subpopulations of cortical pyramidal neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg5 A G 3: 54,656,736 (GRCm39) R316G probably benign Het
Anapc1 T C 2: 128,484,602 (GRCm39) N1121D possibly damaging Het
Antxr2 A T 5: 98,125,516 (GRCm39) I247N probably benign Het
Arid5b C T 10: 67,934,292 (GRCm39) G294S probably benign Het
Arl9 A G 5: 77,158,326 (GRCm39) D136G probably benign Het
Atxn1l A G 8: 110,458,981 (GRCm39) L427P possibly damaging Het
Celf3 T G 3: 94,395,845 (GRCm39) C304G probably damaging Het
Clcc1 T A 3: 108,575,429 (GRCm39) C169S probably benign Het
Clec4a3 A G 6: 122,941,239 (GRCm39) E78G probably damaging Het
Clip1 A G 5: 123,769,141 (GRCm39) L532P probably damaging Het
Col12a1 T G 9: 79,540,698 (GRCm39) K2429T probably damaging Het
Col20a1 G T 2: 180,636,704 (GRCm39) E228D probably damaging Het
Cx3cl1 A C 8: 95,504,752 (GRCm39) E56A possibly damaging Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Fap A C 2: 62,349,355 (GRCm39) L478R probably damaging Het
Fhit T C 14: 9,870,095 (GRCm38) T125A probably benign Het
Gdi1 T A X: 73,351,414 (GRCm39) F175L possibly damaging Het
Golga7b T C 19: 42,255,510 (GRCm39) M129T possibly damaging Het
Gpr149 A T 3: 62,502,549 (GRCm39) C436S probably benign Het
Grid2 T C 6: 64,297,005 (GRCm39) V456A probably damaging Het
Gstcd G T 3: 132,790,599 (GRCm39) T56K possibly damaging Het
Hydin G A 8: 111,308,699 (GRCm39) G3995D possibly damaging Het
Igkv4-50 G A 6: 69,677,765 (GRCm39) T113I probably benign Het
Igkv5-43 A G 6: 69,753,240 (GRCm39) probably benign Het
Igsf10 G A 3: 59,237,962 (GRCm39) H740Y probably benign Het
Igsf10 C A 3: 59,243,935 (GRCm39) R133L probably damaging Het
Lcmt1 A G 7: 122,999,702 (GRCm39) E94G probably benign Het
Lrp1b A T 2: 40,490,300 (GRCm39) L287H probably damaging Het
Ly6m C A 15: 74,753,463 (GRCm39) A18S probably null Het
Map3k3 C T 11: 106,033,379 (GRCm39) Q211* probably null Het
Map4 T A 9: 109,881,266 (GRCm39) F43L possibly damaging Het
Mylk G A 16: 34,700,538 (GRCm39) V460I possibly damaging Het
Nat1 A G 8: 67,943,684 (GRCm39) D23G possibly damaging Het
Nbeal1 T C 1: 60,317,939 (GRCm39) F1959L probably damaging Het
Ncf1 T A 5: 134,255,463 (GRCm39) K143* probably null Het
Nlrp6 T G 7: 140,506,682 (GRCm39) V849G probably benign Het
Or52b3 A G 7: 102,203,677 (GRCm39) Y62C probably damaging Het
Pi4k2a C T 19: 42,078,987 (GRCm39) P16L probably benign Het
Pitx3 T A 19: 46,124,548 (GRCm39) Q273L possibly damaging Het
Ppp1r27 T A 11: 120,441,511 (GRCm39) I90F probably damaging Het
Prickle2 T C 6: 92,388,118 (GRCm39) Y428C probably damaging Het
Prkcq A G 2: 11,288,627 (GRCm39) K527E probably benign Het
Prune2 T A 19: 17,101,712 (GRCm39) S2405R probably damaging Het
Reln A G 5: 22,432,598 (GRCm39) V134A possibly damaging Het
Rnf167 T C 11: 70,540,507 (GRCm39) I129T possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfxn2 T C 19: 46,578,635 (GRCm39) S217P probably damaging Het
Slc16a7 T A 10: 125,130,569 (GRCm39) K39* probably null Het
Slc22a17 A G 14: 55,144,694 (GRCm39) L573P probably damaging Het
Slc25a45 T C 19: 5,934,574 (GRCm39) Y181H probably damaging Het
Slc6a20a A G 9: 123,489,567 (GRCm39) S159P probably damaging Het
Tbc1d1 G A 5: 64,443,350 (GRCm39) R523Q probably damaging Het
Thnsl1 T G 2: 21,217,438 (GRCm39) D397E probably benign Het
Ttn T A 2: 76,575,450 (GRCm39) I25148F probably damaging Het
Ube4b T C 4: 149,419,573 (GRCm39) D1045G probably damaging Het
Ugt8a A T 3: 125,661,031 (GRCm39) L487* probably null Het
Uprt T A X: 103,526,934 (GRCm39) L123H probably damaging Het
Usp9x T C X: 12,994,629 (GRCm39) L940P probably benign Het
Utp20 T C 10: 88,618,551 (GRCm39) K1150E probably damaging Het
Uty A C Y: 1,158,512 (GRCm39) D463E possibly damaging Het
Vmn1r7 A G 6: 57,001,834 (GRCm39) I142T possibly damaging Het
Vps13d T G 4: 144,801,545 (GRCm39) T3558P probably damaging Het
Zfp319 A G 8: 96,055,445 (GRCm39) S253P probably damaging Het
Zfp831 A G 2: 174,499,476 (GRCm39) S1265G probably benign Het
Other mutations in Mcf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Mcf2 APN X 59,179,095 (GRCm39) missense probably damaging 0.99
IGL00845:Mcf2 APN X 59,172,446 (GRCm39) missense probably damaging 1.00
IGL02399:Mcf2 APN X 59,180,812 (GRCm39) missense probably damaging 1.00
R2012:Mcf2 UTSW X 59,122,574 (GRCm39) missense probably damaging 0.98
R3545:Mcf2 UTSW X 59,180,806 (GRCm39) missense probably damaging 1.00
X0020:Mcf2 UTSW X 59,155,982 (GRCm39) missense probably damaging 1.00
Z1088:Mcf2 UTSW X 59,224,073 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGCATGATCACAGGAAGAACTG -3'
(R):5'- TGCACAGGACAGAACTGTTTG -3'

Sequencing Primer
(F):5'- CTGGGCAGAGAGAGAATCCTTTC -3'
(R):5'- ACAGAACTGTTTGAAGCATTTATACC -3'
Posted On 2015-02-19