Incidental Mutation 'R3236:Aff2'
ID 259072
Institutional Source Beutler Lab
Gene Symbol Aff2
Ensembl Gene ENSMUSG00000031189
Gene Name AF4/FMR2 family, member 2
Synonyms Ox19, Fmr2, Oxh
MMRRC Submission 040618-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # R3236 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 68403900-68911643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68907543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1175 (V1175E)
Ref Sequence ENSEMBL: ENSMUSP00000033532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033532]
AlphaFold O55112
Predicted Effect possibly damaging
Transcript: ENSMUST00000033532
AA Change: V1175E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033532
Gene: ENSMUSG00000031189
AA Change: V1175E

DomainStartEndE-ValueType
Pfam:AF-4 18 372 2.3e-108 PFAM
Pfam:AF-4 363 1269 3.4e-265 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151662
Meta Mutation Damage Score 0.2045 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (64/65)
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired conditioned fear responses and enhanced long-term potentiation in hippocampal slices. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
5730455P16Rik G A 11: 80,258,996 (GRCm39) L255F probably damaging Het
Agbl3 A G 6: 34,800,022 (GRCm39) probably null Het
Armh3 A T 19: 45,963,722 (GRCm39) probably benign Het
Atm T A 9: 53,391,048 (GRCm39) D1842V probably benign Het
Bcar3 C A 3: 122,318,645 (GRCm39) Q678K probably benign Het
Ccdc88a A G 11: 29,397,995 (GRCm39) T243A possibly damaging Het
Col5a3 G T 9: 20,718,949 (GRCm39) N268K unknown Het
Col6a1 G A 10: 76,547,154 (GRCm39) T737M unknown Het
Cyp3a25 T C 5: 145,939,938 (GRCm39) probably benign Het
Dnah17 T C 11: 117,985,680 (GRCm39) T1466A probably benign Het
Dnah9 G A 11: 65,845,815 (GRCm39) T3023I probably benign Het
Ecm1 G T 3: 95,642,158 (GRCm39) Q476K possibly damaging Het
Eml6 A G 11: 29,781,097 (GRCm39) probably null Het
Fbh1 T C 2: 11,774,637 (GRCm39) D36G probably damaging Het
Fyb1 A C 15: 6,659,597 (GRCm39) D434A probably damaging Het
Gm5478 A G 15: 101,552,738 (GRCm39) Y398H probably damaging Het
H2-Q6 C A 17: 35,644,676 (GRCm39) T155K probably damaging Het
Hk1 T C 10: 62,131,798 (GRCm39) probably null Het
Kdm6b A G 11: 69,297,192 (GRCm39) Y387H probably damaging Het
Lipn A G 19: 34,046,138 (GRCm39) N37S probably benign Het
Lrig3 G A 10: 125,833,056 (GRCm39) C310Y probably damaging Het
Map6 T A 7: 98,986,031 (GRCm39) V645E probably damaging Het
Memo1 A T 17: 74,509,347 (GRCm39) I224K probably damaging Het
Morc2a T C 11: 3,633,612 (GRCm39) I602T probably benign Het
N4bp3 A T 11: 51,536,761 (GRCm39) F104Y probably damaging Het
Ndrg3 T A 2: 156,785,957 (GRCm39) I161F probably damaging Het
Notch3 T C 17: 32,377,435 (GRCm39) R214G probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or14j10 T C 17: 37,935,127 (GRCm39) E133G possibly damaging Het
Or4p7 T C 2: 88,221,750 (GRCm39) I53T probably benign Het
Pdgfra T C 5: 75,328,597 (GRCm39) V243A probably damaging Het
Piwil4 A G 9: 14,611,544 (GRCm39) probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pon2 A T 6: 5,266,986 (GRCm39) N252K possibly damaging Het
Ptf1a T C 2: 19,450,718 (GRCm39) F16S probably damaging Het
Rasgrp1 A G 2: 117,122,293 (GRCm39) Y366H probably benign Het
Rbfox1 G A 16: 7,225,892 (GRCm39) V353I possibly damaging Het
Rrh T C 3: 129,605,360 (GRCm39) Y110C probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scaf4 T A 16: 90,057,105 (GRCm39) D82V unknown Het
Serhl C A 15: 82,988,604 (GRCm39) P177Q probably damaging Het
Setdb1 A G 3: 95,246,065 (GRCm39) V619A probably damaging Het
Sf3b3 A G 8: 111,538,652 (GRCm39) S1123P probably damaging Het
Slc1a3 T C 15: 8,668,607 (GRCm39) I453V probably damaging Het
Slf2 A G 19: 44,930,773 (GRCm39) I617V probably benign Het
Snrnp200 T A 2: 127,063,802 (GRCm39) D660E probably damaging Het
Spata22 T A 11: 73,236,713 (GRCm39) F340I probably damaging Het
Speer4e1 T A 5: 14,984,939 (GRCm39) E206D possibly damaging Het
Stard6 T A 18: 70,633,557 (GRCm39) M188K probably damaging Het
Stat6 G A 10: 127,488,091 (GRCm39) V282I possibly damaging Het
Supt20 T C 3: 54,616,501 (GRCm39) S253P possibly damaging Het
Szt2 A C 4: 118,240,231 (GRCm39) probably null Het
Thsd4 C A 9: 60,301,670 (GRCm39) K208N probably benign Het
Thsd7b C T 1: 130,145,855 (GRCm39) Q1588* probably null Het
Tmem167 C T 13: 90,252,499 (GRCm39) R52C probably benign Het
Ttn T C 2: 76,729,753 (GRCm39) probably benign Het
Usp39 G A 6: 72,315,372 (GRCm39) probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vmn2r24 C T 6: 123,755,984 (GRCm39) Q19* probably null Het
Vps13b G A 15: 35,910,450 (GRCm39) E3405K probably benign Het
Zgrf1 A G 3: 127,407,024 (GRCm39) D1597G probably damaging Het
Other mutations in Aff2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Aff2 APN X 68,588,199 (GRCm39) missense possibly damaging 0.61
IGL01373:Aff2 APN X 68,911,335 (GRCm39) missense possibly damaging 0.84
IGL02253:Aff2 APN X 68,874,397 (GRCm39) missense probably benign 0.00
IGL02614:Aff2 APN X 68,907,693 (GRCm39) missense possibly damaging 0.92
IGL03116:Aff2 APN X 68,878,092 (GRCm39) missense probably benign 0.23
IGL03184:Aff2 APN X 68,810,840 (GRCm39) missense possibly damaging 0.82
H8562:Aff2 UTSW X 68,892,532 (GRCm39) missense unknown
LCD18:Aff2 UTSW X 68,791,141 (GRCm39) intron probably benign
R0190:Aff2 UTSW X 68,892,711 (GRCm39) frame shift probably null
R0481:Aff2 UTSW X 68,878,248 (GRCm39) missense probably damaging 1.00
R0554:Aff2 UTSW X 68,907,680 (GRCm39) missense possibly damaging 0.85
R2253:Aff2 UTSW X 68,878,409 (GRCm39) missense possibly damaging 0.84
R3237:Aff2 UTSW X 68,907,543 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GACCAAAGAGATGTGGGCATTC -3'
(R):5'- GCATCCTCATCCTTAGGCAAAG -3'

Sequencing Primer
(F):5'- GTGGGCATTCATATGAAGTTTCACAC -3'
(R):5'- TCCTCATCCTTAGGCAAAGAATAG -3'
Posted On 2015-01-23