Incidental Mutation 'R8391:Ric8a'
ID 647386
Institutional Source Beutler Lab
Gene Symbol Ric8a
Ensembl Gene ENSMUSG00000025485
Gene Name RIC8 guanine nucleotide exchange factor A
Synonyms synembryn, Ric8, RIC-8
MMRRC Submission 067756-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8391 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 140437310-140443644 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140437916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 52 (S52T)
Ref Sequence ENSEMBL: ENSMUSP00000026558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026557] [ENSMUST00000026558] [ENSMUST00000209320] [ENSMUST00000209690] [ENSMUST00000209766] [ENSMUST00000210708] [ENSMUST00000210710] [ENSMUST00000211527] [ENSMUST00000211590] [ENSMUST00000211624]
AlphaFold Q3TIR3
Predicted Effect probably benign
Transcript: ENSMUST00000026557
SMART Domains Protein: ENSMUSP00000026557
Gene: ENSMUSG00000025484

DomainStartEndE-ValueType
Pfam:SNARE 20 82 3.4e-13 PFAM
transmembrane domain 87 106 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000026558
AA Change: S52T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000026558
Gene: ENSMUSG00000025485
AA Change: S52T

DomainStartEndE-ValueType
Pfam:Ric8 66 505 2.3e-125 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209320
Predicted Effect probably benign
Transcript: ENSMUST00000209690
Predicted Effect probably benign
Transcript: ENSMUST00000209766
Predicted Effect probably benign
Transcript: ENSMUST00000210708
AA Change: S52T

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000210710
Predicted Effect probably benign
Transcript: ENSMUST00000211527
Predicted Effect probably benign
Transcript: ENSMUST00000211590
Predicted Effect probably benign
Transcript: ENSMUST00000211624
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in lethality during gastrulation. Heterozygotes exhibit impaired spatial learning and increased anxiety. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,368,968 (GRCm39) S155P possibly damaging Het
Akr1c21 C T 13: 4,626,278 (GRCm39) R101W probably damaging Het
Angpt1 T A 15: 42,375,794 (GRCm39) N154I probably damaging Het
Aoc1l2 T C 6: 48,909,602 (GRCm39) W616R probably damaging Het
Atp2a1 T A 7: 126,047,888 (GRCm39) I641F possibly damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Bltp3b T C 10: 89,645,605 (GRCm39) V1226A possibly damaging Het
Cacna1b G A 2: 24,596,212 (GRCm39) A493V probably damaging Het
Cacna1h G A 17: 25,596,204 (GRCm39) A1939V probably benign Het
Cacna2d4 A G 6: 119,325,706 (GRCm39) I1027V probably benign Het
Cbln3 G A 14: 56,120,523 (GRCm39) R170C probably damaging Het
Cemip T C 7: 83,604,517 (GRCm39) S842G probably damaging Het
Cep164 T A 9: 45,718,491 (GRCm39) Q284L unknown Het
Crybg2 T C 4: 133,803,035 (GRCm39) F889L probably damaging Het
Fhip1a T C 3: 85,595,788 (GRCm39) N366D probably damaging Het
Gars1 T A 6: 55,025,127 (GRCm39) Y124N probably damaging Het
Gbp2b T C 3: 142,309,894 (GRCm39) F228S probably damaging Het
Gm5565 C A 5: 146,096,962 (GRCm39) R59L probably benign Het
Gm8947 A T 1: 151,068,737 (GRCm39) D190V probably benign Het
Grid2ip T C 5: 143,365,951 (GRCm39) M543T probably damaging Het
Gucy2c A G 6: 136,681,213 (GRCm39) L957P probably damaging Het
Hint1 T C 11: 54,757,368 (GRCm39) I18T possibly damaging Het
Il23r T C 6: 67,429,374 (GRCm39) S323G probably benign Het
Iqcf3 T G 9: 106,438,175 (GRCm39) E16A unknown Het
Kcnj1 A T 9: 32,308,028 (GRCm39) T151S probably damaging Het
Kdm1a G T 4: 136,281,154 (GRCm39) T685K probably benign Het
Lipo4 T A 19: 33,488,965 (GRCm39) H206L probably benign Het
Lrp5 A G 19: 3,654,185 (GRCm39) Y1081H probably damaging Het
Masp1 A T 16: 23,289,128 (GRCm39) H557Q possibly damaging Het
Nhsl1 C T 10: 18,400,691 (GRCm39) T605I possibly damaging Het
Or1af1 T A 2: 37,110,277 (GRCm39) Y259N probably damaging Het
Or1j21 C T 2: 36,684,096 (GRCm39) P283S probably damaging Het
Pkmyt1 C T 17: 23,954,013 (GRCm39) R307C probably damaging Het
Plppr4 T C 3: 117,129,060 (GRCm39) I136V probably benign Het
Ppp1r12c A C 7: 4,500,431 (GRCm39) Y150D probably damaging Het
Qrich2 C G 11: 116,356,403 (GRCm39) V149L probably benign Het
R3hdm1 T C 1: 128,121,215 (GRCm39) F176L Het
Romo1 G T 2: 155,986,340 (GRCm39) probably benign Het
Rps6ka1 G A 4: 133,591,346 (GRCm39) H318Y probably damaging Het
Slc43a3 A G 2: 84,768,151 (GRCm39) N41S probably benign Het
Srrm4 T G 5: 116,582,755 (GRCm39) T567P unknown Het
Srsf12 C G 4: 33,226,070 (GRCm39) P111R probably damaging Het
St6galnac4 G T 2: 32,484,086 (GRCm39) D95Y probably damaging Het
Sult2a6 T C 7: 13,956,516 (GRCm39) probably null Het
Synj2 A G 17: 5,991,796 (GRCm39) E24G probably damaging Het
Try10 T G 6: 41,334,306 (GRCm39) L166R probably damaging Het
Ttn A G 2: 76,562,544 (GRCm39) V28767A probably damaging Het
Ttn T A 2: 76,604,822 (GRCm39) I18371F probably damaging Het
Zc3h13 T A 14: 75,568,625 (GRCm39) L1306Q probably damaging Het
Zp2 T A 7: 119,726,179 (GRCm39) T674S probably benign Het
Zscan4-ps3 A G 7: 11,346,801 (GRCm39) Y279C probably benign Het
Other mutations in Ric8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02158:Ric8a APN 7 140,442,270 (GRCm39) missense probably benign 0.00
R0277:Ric8a UTSW 7 140,437,813 (GRCm39) unclassified probably benign
R0529:Ric8a UTSW 7 140,440,806 (GRCm39) missense probably damaging 1.00
R0707:Ric8a UTSW 7 140,437,886 (GRCm39) unclassified probably benign
R1272:Ric8a UTSW 7 140,442,289 (GRCm39) missense probably benign 0.22
R1627:Ric8a UTSW 7 140,438,091 (GRCm39) missense probably damaging 0.98
R1655:Ric8a UTSW 7 140,440,808 (GRCm39) missense probably benign 0.01
R2281:Ric8a UTSW 7 140,441,851 (GRCm39) missense probably benign 0.44
R2327:Ric8a UTSW 7 140,439,471 (GRCm39) missense probably damaging 1.00
R3721:Ric8a UTSW 7 140,441,874 (GRCm39) critical splice donor site probably null
R4287:Ric8a UTSW 7 140,441,335 (GRCm39) missense probably damaging 1.00
R4504:Ric8a UTSW 7 140,438,429 (GRCm39) missense probably benign 0.03
R4505:Ric8a UTSW 7 140,438,429 (GRCm39) missense probably benign 0.03
R4506:Ric8a UTSW 7 140,438,429 (GRCm39) missense probably benign 0.03
R4507:Ric8a UTSW 7 140,438,429 (GRCm39) missense probably benign 0.03
R4552:Ric8a UTSW 7 140,441,250 (GRCm39) missense probably damaging 1.00
R5500:Ric8a UTSW 7 140,438,228 (GRCm39) missense probably benign 0.43
R6737:Ric8a UTSW 7 140,438,789 (GRCm39) splice site probably null
R8150:Ric8a UTSW 7 140,441,269 (GRCm39) missense probably damaging 1.00
R8788:Ric8a UTSW 7 140,438,806 (GRCm39) missense probably benign 0.00
R8966:Ric8a UTSW 7 140,438,379 (GRCm39) missense probably benign
R9449:Ric8a UTSW 7 140,437,393 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCCCTGCAGCATTCTCAGAG -3'
(R):5'- TTGGACTGCTGAGCACAAG -3'

Sequencing Primer
(F):5'- AGAGCTTCACCTTCGATGATG -3'
(R):5'- TTACACAGGCATTTGAGAGACTCG -3'
Posted On 2020-09-02