Incidental Mutation 'R9255:Plekhg4'
ID 701812
Institutional Source Beutler Lab
Gene Symbol Plekhg4
Ensembl Gene ENSMUSG00000014782
Gene Name pleckstrin homology domain containing, family G (with RhoGef domain) member 4
Synonyms 4931414L13Rik
MMRRC Submission 068961-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R9255 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 106099906-106109494 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106103271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 315 (M315L)
Ref Sequence ENSEMBL: ENSMUSP00000150574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014927] [ENSMUST00000159286] [ENSMUST00000160191] [ENSMUST00000160650] [ENSMUST00000214056]
AlphaFold A0A1L1SU27
Predicted Effect probably benign
Transcript: ENSMUST00000014927
AA Change: M279L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782
AA Change: M279L

DomainStartEndE-ValueType
low complexity region 364 377 N/A INTRINSIC
low complexity region 440 451 N/A INTRINSIC
low complexity region 463 475 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
low complexity region 559 577 N/A INTRINSIC
low complexity region 653 664 N/A INTRINSIC
low complexity region 701 718 N/A INTRINSIC
RhoGEF 729 900 3.15e-29 SMART
PH 914 1022 1.44e-5 SMART
low complexity region 1148 1169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159286
AA Change: M235L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000125556
Gene: ENSMUSG00000014782
AA Change: M235L

DomainStartEndE-ValueType
SCOP:d1aua_2 136 275 5e-9 SMART
Blast:SEC14 137 271 9e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000160191
AA Change: M210L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125249
Gene: ENSMUSG00000014782
AA Change: M210L

DomainStartEndE-ValueType
low complexity region 295 308 N/A INTRINSIC
low complexity region 371 382 N/A INTRINSIC
low complexity region 394 406 N/A INTRINSIC
low complexity region 466 478 N/A INTRINSIC
low complexity region 490 508 N/A INTRINSIC
low complexity region 584 595 N/A INTRINSIC
low complexity region 632 649 N/A INTRINSIC
RhoGEF 660 831 3.15e-29 SMART
PH 845 953 1.44e-5 SMART
low complexity region 1079 1100 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160650
Predicted Effect probably benign
Transcript: ENSMUST00000214056
AA Change: M315L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,626,795 (GRCm39) Y549C probably damaging Het
Abca13 A C 11: 9,278,213 (GRCm39) N3131T probably damaging Het
Acap3 T C 4: 155,990,145 (GRCm39) V775A probably benign Het
Actn3 T A 19: 4,921,820 (GRCm39) I149F probably damaging Het
Adcy2 A T 13: 69,036,199 (GRCm39) M154K possibly damaging Het
Agbl1 A T 7: 76,416,150 (GRCm39) M976L unknown Het
Agbl3 T A 6: 34,789,840 (GRCm39) M531K probably damaging Het
Armc8 A C 9: 99,379,441 (GRCm39) M495R possibly damaging Het
Astn2 T A 4: 65,563,085 (GRCm39) K899* probably null Het
Atp10b T A 11: 43,107,148 (GRCm39) H727Q probably damaging Het
Bach1 A G 16: 87,519,401 (GRCm39) I564V possibly damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Ccdc136 T A 6: 29,409,237 (GRCm39) H183Q probably benign Het
Celf3 T C 3: 94,392,594 (GRCm39) F98L probably benign Het
Chrd G A 16: 20,558,801 (GRCm39) C845Y probably damaging Het
Clec1a T G 6: 129,409,208 (GRCm39) K139N probably benign Het
Cntln T G 4: 85,019,103 (GRCm39) N130K possibly damaging Het
Cog1 A T 11: 113,547,019 (GRCm39) T538S probably benign Het
Cog8 A G 8: 107,779,383 (GRCm39) I298T probably damaging Het
Dio1 A T 4: 107,164,102 (GRCm39) W72R probably damaging Het
Elapor1 T C 3: 108,376,864 (GRCm39) R453G probably damaging Het
Exph5 T A 9: 53,284,609 (GRCm39) N563K possibly damaging Het
Foxn1 C A 11: 78,252,399 (GRCm39) E330* probably null Het
Fzd7 G T 1: 59,522,495 (GRCm39) R126L possibly damaging Het
Gmnn A G 13: 24,937,351 (GRCm39) Y147H probably benign Het
Gpa33 A G 1: 165,980,186 (GRCm39) N83S probably benign Het
Hdac4 A G 1: 91,889,173 (GRCm39) probably null Het
Hydin A G 8: 111,261,972 (GRCm39) D2691G probably benign Het
Ifi203 A T 1: 173,756,787 (GRCm39) I332N unknown Het
Inpp1 A G 1: 52,829,306 (GRCm39) S238P probably benign Het
Jmy A G 13: 93,589,894 (GRCm39) probably null Het
Kcnab3 C T 11: 69,222,337 (GRCm39) Q327* probably null Het
Kctd1 A G 18: 15,194,853 (GRCm39) V590A probably benign Het
Lrrc8e A T 8: 4,284,504 (GRCm39) H243L probably damaging Het
Lsr A G 7: 30,657,670 (GRCm39) L498S probably benign Het
Mapkbp1 A G 2: 119,843,556 (GRCm39) D268G probably damaging Het
Mfn1 T C 3: 32,598,287 (GRCm39) V203A possibly damaging Het
Micu1 T A 10: 59,604,051 (GRCm39) I212N probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Or11i1 A G 3: 106,729,737 (GRCm39) I46T probably benign Het
Or12j4 T C 7: 140,046,423 (GRCm39) F103S probably damaging Het
Or8g30 T C 9: 39,230,487 (GRCm39) Y141C probably benign Het
Pabpc6 T C 17: 9,886,769 (GRCm39) E594G probably damaging Het
Pald1 A T 10: 61,176,989 (GRCm39) probably null Het
Pdpk1 A G 17: 24,325,938 (GRCm39) I113T possibly damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pi4kb T C 3: 94,906,219 (GRCm39) S589P probably damaging Het
Pik3ca G A 3: 32,496,981 (GRCm39) probably null Het
Proz G A 8: 13,123,472 (GRCm39) V248M possibly damaging Het
Prss1 T C 6: 41,438,183 (GRCm39) Y37H probably damaging Het
R3hdml T A 2: 163,337,612 (GRCm39) W89R probably damaging Het
Ranbp3l A G 15: 9,057,293 (GRCm39) T319A probably benign Het
Scn4a C T 11: 106,215,054 (GRCm39) A1246T probably damaging Het
Sdr42e1 T A 8: 118,389,999 (GRCm39) Y214F probably benign Het
Slc10a2 C T 8: 5,148,565 (GRCm39) V127I probably benign Het
Slc16a1 T A 3: 104,560,148 (GRCm39) M151K possibly damaging Het
Slc25a25 C T 2: 32,310,391 (GRCm39) E123K probably damaging Het
Ssbp2 T A 13: 91,818,525 (GRCm39) M171K possibly damaging Het
Styk1 A G 6: 131,286,946 (GRCm39) V183A probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tspan18 T G 2: 93,040,200 (GRCm39) D185A probably benign Het
Tti2 T A 8: 31,645,570 (GRCm39) F320Y probably damaging Het
Ttn T C 2: 76,608,621 (GRCm39) I17798M probably damaging Het
Ube2j1 C A 4: 33,036,759 (GRCm39) H28N probably benign Het
Vmn1r195 A C 13: 22,463,342 (GRCm39) I271L possibly damaging Het
Vmn2r81 A C 10: 79,103,166 (GRCm39) T120P possibly damaging Het
Vmn2r-ps158 A T 7: 42,673,965 (GRCm39) Y348F possibly damaging Het
Wtip A G 7: 33,824,908 (GRCm39) probably null Het
Zc3h12d C T 10: 7,729,022 (GRCm39) H129Y probably damaging Het
Zfp600 T G 4: 146,131,673 (GRCm39) S114A possibly damaging Het
Other mutations in Plekhg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Plekhg4 APN 8 106,102,370 (GRCm39) missense probably benign 0.01
IGL00970:Plekhg4 APN 8 106,105,067 (GRCm39) missense probably benign 0.02
IGL01784:Plekhg4 APN 8 106,105,589 (GRCm39) missense probably damaging 1.00
IGL02063:Plekhg4 APN 8 106,105,884 (GRCm39) splice site probably benign
IGL02371:Plekhg4 APN 8 106,105,691 (GRCm39) splice site probably null
IGL02984:Plekhg4 UTSW 8 106,107,020 (GRCm39) missense probably damaging 1.00
R0013:Plekhg4 UTSW 8 106,102,028 (GRCm39) nonsense probably null
R0105:Plekhg4 UTSW 8 106,108,644 (GRCm39) missense possibly damaging 0.65
R0105:Plekhg4 UTSW 8 106,108,644 (GRCm39) missense possibly damaging 0.65
R0631:Plekhg4 UTSW 8 106,105,934 (GRCm39) missense probably damaging 1.00
R1078:Plekhg4 UTSW 8 106,108,309 (GRCm39) nonsense probably null
R1201:Plekhg4 UTSW 8 106,108,305 (GRCm39) missense probably damaging 1.00
R1222:Plekhg4 UTSW 8 106,105,742 (GRCm39) missense probably benign 0.03
R1418:Plekhg4 UTSW 8 106,105,742 (GRCm39) missense probably benign 0.03
R1459:Plekhg4 UTSW 8 106,108,431 (GRCm39) missense probably damaging 0.98
R1465:Plekhg4 UTSW 8 106,107,672 (GRCm39) splice site probably benign
R1558:Plekhg4 UTSW 8 106,108,467 (GRCm39) missense possibly damaging 0.73
R1637:Plekhg4 UTSW 8 106,108,413 (GRCm39) missense probably benign 0.08
R1757:Plekhg4 UTSW 8 106,108,293 (GRCm39) missense probably damaging 0.99
R1922:Plekhg4 UTSW 8 106,105,017 (GRCm39) missense probably damaging 1.00
R1961:Plekhg4 UTSW 8 106,108,096 (GRCm39) missense probably damaging 0.99
R2074:Plekhg4 UTSW 8 106,103,084 (GRCm39) small deletion probably benign
R2113:Plekhg4 UTSW 8 106,106,066 (GRCm39) missense probably damaging 1.00
R2124:Plekhg4 UTSW 8 106,103,084 (GRCm39) small deletion probably benign
R2196:Plekhg4 UTSW 8 106,103,084 (GRCm39) small deletion probably benign
R2321:Plekhg4 UTSW 8 106,104,172 (GRCm39) missense probably benign 0.00
R2432:Plekhg4 UTSW 8 106,108,468 (GRCm39) missense probably benign 0.00
R2908:Plekhg4 UTSW 8 106,107,493 (GRCm39) missense probably damaging 1.00
R2910:Plekhg4 UTSW 8 106,103,084 (GRCm39) small deletion probably benign
R4179:Plekhg4 UTSW 8 106,108,030 (GRCm39) missense possibly damaging 0.93
R4180:Plekhg4 UTSW 8 106,108,030 (GRCm39) missense possibly damaging 0.93
R4513:Plekhg4 UTSW 8 106,107,034 (GRCm39) missense probably damaging 1.00
R4678:Plekhg4 UTSW 8 106,107,003 (GRCm39) nonsense probably null
R4946:Plekhg4 UTSW 8 106,108,628 (GRCm39) missense probably null 0.01
R5223:Plekhg4 UTSW 8 106,105,581 (GRCm39) missense probably benign 0.18
R5362:Plekhg4 UTSW 8 106,108,030 (GRCm39) missense possibly damaging 0.93
R5454:Plekhg4 UTSW 8 106,102,745 (GRCm39) critical splice donor site probably null
R5609:Plekhg4 UTSW 8 106,106,134 (GRCm39) critical splice donor site probably null
R5624:Plekhg4 UTSW 8 106,107,382 (GRCm39) missense probably damaging 0.99
R5806:Plekhg4 UTSW 8 106,105,542 (GRCm39) missense possibly damaging 0.85
R6297:Plekhg4 UTSW 8 106,104,472 (GRCm39) missense probably damaging 1.00
R7198:Plekhg4 UTSW 8 106,105,329 (GRCm39) missense probably damaging 1.00
R7443:Plekhg4 UTSW 8 106,107,499 (GRCm39) missense probably damaging 1.00
R7570:Plekhg4 UTSW 8 106,105,316 (GRCm39) missense possibly damaging 0.95
R7577:Plekhg4 UTSW 8 106,102,031 (GRCm39) missense probably benign
R7632:Plekhg4 UTSW 8 106,106,782 (GRCm39) missense probably damaging 1.00
R7782:Plekhg4 UTSW 8 106,104,399 (GRCm39) missense probably benign 0.14
R7958:Plekhg4 UTSW 8 106,103,281 (GRCm39) missense possibly damaging 0.86
R8239:Plekhg4 UTSW 8 106,107,546 (GRCm39) nonsense probably null
R8335:Plekhg4 UTSW 8 106,102,848 (GRCm39) missense probably damaging 0.97
R8411:Plekhg4 UTSW 8 106,103,961 (GRCm39) nonsense probably null
R9011:Plekhg4 UTSW 8 106,102,284 (GRCm39) missense probably benign 0.23
R9017:Plekhg4 UTSW 8 106,105,332 (GRCm39) missense possibly damaging 0.85
R9297:Plekhg4 UTSW 8 106,105,907 (GRCm39) missense probably damaging 1.00
R9391:Plekhg4 UTSW 8 106,106,043 (GRCm39) missense probably damaging 1.00
R9524:Plekhg4 UTSW 8 106,101,398 (GRCm39) missense unknown
R9613:Plekhg4 UTSW 8 106,107,620 (GRCm39) missense probably damaging 1.00
R9683:Plekhg4 UTSW 8 106,102,923 (GRCm39) missense probably benign 0.00
Z1177:Plekhg4 UTSW 8 106,101,474 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACCGTTTAGGCCTGAAGTG -3'
(R):5'- CTCCTAGCGAAGTAGGCAAC -3'

Sequencing Primer
(F):5'- TGACCGTACTAGTCGATGCC -3'
(R):5'- GCAACTCCACGTTAGGAATGTG -3'
Posted On 2022-03-25