Incidental Mutation 'R1876:Srgap3'
ID 211219
Institutional Source Beutler Lab
Gene Symbol Srgap3
Ensembl Gene ENSMUSG00000030257
Gene Name SLIT-ROBO Rho GTPase activating protein 3
Synonyms Arhgap14, D130026O08Rik
MMRRC Submission 039898-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R1876 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 112694932-112924227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112752527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 319 (M319T)
Ref Sequence ENSEMBL: ENSMUSP00000085712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088373] [ENSMUST00000113169]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000060215
Predicted Effect probably damaging
Transcript: ENSMUST00000088373
AA Change: M319T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: M319T

DomainStartEndE-ValueType
FCH 22 120 3.81e-16 SMART
low complexity region 172 190 N/A INTRINSIC
coiled coil region 353 392 N/A INTRINSIC
low complexity region 484 495 N/A INTRINSIC
RhoGAP 517 691 7.43e-66 SMART
SH3 747 802 9.69e-15 SMART
coiled coil region 955 985 N/A INTRINSIC
low complexity region 1025 1038 N/A INTRINSIC
low complexity region 1053 1064 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113169
AA Change: M319T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: M319T

DomainStartEndE-ValueType
FCH 22 120 3.81e-16 SMART
low complexity region 172 190 N/A INTRINSIC
coiled coil region 353 392 N/A INTRINSIC
Blast:RhoGAP 434 474 4e-11 BLAST
low complexity region 476 488 N/A INTRINSIC
RhoGAP 493 667 7.43e-66 SMART
SH3 723 778 9.69e-15 SMART
coiled coil region 931 961 N/A INTRINSIC
low complexity region 1001 1014 N/A INTRINSIC
low complexity region 1029 1040 N/A INTRINSIC
Meta Mutation Damage Score 0.6168 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.2%
Validation Efficiency 99% (82/83)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in spine density in the brain CA1 and cortical layers IV/V. Mice homozygous for a different knock-out allele exhibit a neurodevelopment disorder with schizophrenia-related intermediate phenotypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C A 5: 77,025,396 (GRCm39) C961F probably damaging Het
Abca16 A C 7: 120,032,608 (GRCm39) D209A probably damaging Het
Adamts14 T C 10: 61,036,151 (GRCm39) I1047V probably benign Het
Ak1 A G 2: 32,520,282 (GRCm39) K27E probably damaging Het
Akap9 T A 5: 4,011,809 (GRCm39) D837E probably benign Het
Arfgef3 T C 10: 18,473,104 (GRCm39) Y1653C probably damaging Het
Atad2 T G 15: 57,970,264 (GRCm39) I446L probably benign Het
Atp8b3 T G 10: 80,365,912 (GRCm39) T313P possibly damaging Het
Btg4 T C 9: 51,028,489 (GRCm39) L72S probably damaging Het
Canx A G 11: 50,195,186 (GRCm39) I294T probably damaging Het
Casp1 G A 9: 5,303,663 (GRCm39) E250K probably benign Het
Chchd10 T A 10: 75,772,166 (GRCm39) S46T probably benign Het
Col12a1 G T 9: 79,585,563 (GRCm39) Y1271* probably null Het
Col3a1 G A 1: 45,381,395 (GRCm39) probably null Het
Ctc1 A T 11: 68,922,390 (GRCm39) T872S probably benign Het
Cx3cl1 T C 8: 95,507,048 (GRCm39) F351S probably damaging Het
Cyb5r4 T A 9: 86,937,867 (GRCm39) H295Q probably damaging Het
Cyp2j7 T C 4: 96,105,656 (GRCm39) T285A probably benign Het
Dip2a G A 10: 76,153,925 (GRCm39) T135M probably damaging Het
Eif1ad18 T G 12: 88,050,810 (GRCm39) I115S probably damaging Het
Fgf10 A G 13: 118,925,695 (GRCm39) E158G probably damaging Het
Ftcd G T 10: 76,417,403 (GRCm39) A281S probably benign Het
Gpat4 A T 8: 23,669,486 (GRCm39) M333K possibly damaging Het
Gpcpd1 A G 2: 132,376,673 (GRCm39) L541P probably damaging Het
Grk5 T C 19: 61,071,663 (GRCm39) Y408H probably damaging Het
Hcrtr2 A G 9: 76,153,627 (GRCm39) probably null Het
Hsd17b13 T A 5: 104,116,633 (GRCm39) N127I probably damaging Het
Hspa4 T G 11: 53,174,983 (GRCm39) D158A probably benign Het
Ice2 G A 9: 69,322,857 (GRCm39) A451T possibly damaging Het
Inpp5e A T 2: 26,298,169 (GRCm39) I144K possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrrc49 T C 9: 60,495,060 (GRCm39) I652V possibly damaging Het
Man1a A T 10: 53,795,268 (GRCm39) W571R probably damaging Het
Mecom A G 3: 30,047,807 (GRCm39) S32P probably damaging Het
Mrpl40 A G 16: 18,691,224 (GRCm39) I162T probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mtmr12 T C 15: 12,257,716 (GRCm39) W265R probably damaging Het
Mup21 C T 4: 62,067,663 (GRCm39) V79I probably benign Het
Myh11 G A 16: 14,086,967 (GRCm39) probably benign Het
Myom3 T A 4: 135,506,711 (GRCm39) F495I probably benign Het
Ncoa7 A T 10: 30,574,122 (GRCm39) probably benign Het
Nisch T C 14: 30,895,594 (GRCm39) Y45C probably damaging Het
Nkain2 T A 10: 32,766,435 (GRCm39) probably benign Het
Or1ak2 A T 2: 36,827,775 (GRCm39) I215F possibly damaging Het
Or4k1 A G 14: 50,377,629 (GRCm39) S156P probably damaging Het
Pdcl A C 2: 37,245,708 (GRCm39) H98Q probably damaging Het
Pink1 A G 4: 138,043,013 (GRCm39) V427A probably damaging Het
Plce1 T C 19: 38,769,067 (GRCm39) S2242P probably damaging Het
Plrg1 C A 3: 82,976,375 (GRCm39) probably benign Het
Plxnc1 A G 10: 94,702,803 (GRCm39) F586S possibly damaging Het
Pnpla7 G A 2: 24,930,985 (GRCm39) V867M possibly damaging Het
Ppfia3 T A 7: 45,001,631 (GRCm39) D427V possibly damaging Het
Ppp6r3 A T 19: 3,521,971 (GRCm39) probably benign Het
Pros1 A T 16: 62,723,881 (GRCm39) S210C probably damaging Het
Ptk2b A G 14: 66,395,841 (GRCm39) S839P probably benign Het
Ptpre T C 7: 135,280,046 (GRCm39) V570A possibly damaging Het
Rbm48 C T 5: 3,645,259 (GRCm39) A142T probably damaging Het
Safb2 T C 17: 56,883,909 (GRCm39) probably null Het
Scnn1a A G 6: 125,315,801 (GRCm39) E384G probably benign Het
Sec23ip A G 7: 128,354,575 (GRCm39) Y277C probably benign Het
Slc25a29 G A 12: 108,793,637 (GRCm39) T42M probably damaging Het
Slc6a4 A T 11: 76,905,990 (GRCm39) T264S probably benign Het
Strn4 T A 7: 16,572,207 (GRCm39) I640N probably damaging Het
Tacc2 A G 7: 130,225,475 (GRCm39) D739G probably benign Het
Tigd4 T A 3: 84,501,242 (GRCm39) L53* probably null Het
Tlr6 T A 5: 65,112,763 (GRCm39) D48V probably damaging Het
Tmem125 T C 4: 118,399,101 (GRCm39) D110G probably damaging Het
Tmem198 A G 1: 75,461,567 (GRCm39) D341G probably damaging Het
Tnfaip3 A G 10: 18,880,682 (GRCm39) F462L possibly damaging Het
Tnrc6a CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT 7: 122,761,669 (GRCm39) probably benign Het
Ush2a T A 1: 188,410,486 (GRCm39) I2378N possibly damaging Het
Usp47 A G 7: 111,654,127 (GRCm39) T108A probably damaging Het
Vmn1r236 T A 17: 21,506,900 (GRCm39) I6K probably benign Het
Vmn2r65 A T 7: 84,595,505 (GRCm39) V393D probably damaging Het
Other mutations in Srgap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Srgap3 APN 6 112,716,358 (GRCm39) missense probably damaging 0.98
IGL01325:Srgap3 APN 6 112,752,647 (GRCm39) missense probably damaging 1.00
IGL01608:Srgap3 APN 6 112,923,439 (GRCm39) missense probably benign 0.00
IGL01626:Srgap3 APN 6 112,750,609 (GRCm39) missense probably damaging 0.98
IGL01787:Srgap3 APN 6 112,699,983 (GRCm39) missense probably benign 0.00
IGL02698:Srgap3 APN 6 112,723,889 (GRCm39) missense probably damaging 0.98
IGL02805:Srgap3 APN 6 112,704,224 (GRCm39) missense probably damaging 0.99
IGL02813:Srgap3 APN 6 112,708,441 (GRCm39) missense probably damaging 1.00
IGL02876:Srgap3 APN 6 112,748,414 (GRCm39) missense probably damaging 1.00
IGL03264:Srgap3 APN 6 112,793,636 (GRCm39) missense probably damaging 1.00
IGL03342:Srgap3 APN 6 112,752,648 (GRCm39) missense probably damaging 1.00
R0007:Srgap3 UTSW 6 112,806,473 (GRCm39) missense probably damaging 1.00
R0371:Srgap3 UTSW 6 112,748,432 (GRCm39) missense probably damaging 0.99
R0607:Srgap3 UTSW 6 112,700,080 (GRCm39) missense probably damaging 1.00
R1628:Srgap3 UTSW 6 112,716,331 (GRCm39) missense probably damaging 0.99
R1669:Srgap3 UTSW 6 112,699,865 (GRCm39) missense probably benign 0.36
R1858:Srgap3 UTSW 6 112,748,479 (GRCm39) missense probably damaging 1.00
R1896:Srgap3 UTSW 6 112,715,958 (GRCm39) missense probably benign 0.11
R2159:Srgap3 UTSW 6 112,748,339 (GRCm39) missense probably damaging 0.99
R2221:Srgap3 UTSW 6 112,923,454 (GRCm39) missense probably damaging 0.98
R2862:Srgap3 UTSW 6 112,699,933 (GRCm39) missense probably damaging 0.99
R3160:Srgap3 UTSW 6 112,706,619 (GRCm39) missense probably benign 0.00
R3162:Srgap3 UTSW 6 112,706,619 (GRCm39) missense probably benign 0.00
R4092:Srgap3 UTSW 6 112,700,045 (GRCm39) missense probably benign 0.00
R4561:Srgap3 UTSW 6 112,758,015 (GRCm39) missense probably damaging 0.98
R4781:Srgap3 UTSW 6 112,734,386 (GRCm39) intron probably benign
R4825:Srgap3 UTSW 6 112,704,271 (GRCm39) missense probably benign
R4887:Srgap3 UTSW 6 112,723,895 (GRCm39) missense probably damaging 1.00
R5304:Srgap3 UTSW 6 112,743,900 (GRCm39) missense probably damaging 1.00
R5556:Srgap3 UTSW 6 112,716,039 (GRCm39) missense probably damaging 0.99
R5672:Srgap3 UTSW 6 112,752,522 (GRCm39) missense probably benign
R5879:Srgap3 UTSW 6 112,699,807 (GRCm39) missense possibly damaging 0.67
R5944:Srgap3 UTSW 6 112,772,775 (GRCm39) missense possibly damaging 0.89
R6277:Srgap3 UTSW 6 112,716,344 (GRCm39) missense probably benign 0.02
R6298:Srgap3 UTSW 6 112,793,571 (GRCm39) missense probably damaging 0.98
R6407:Srgap3 UTSW 6 112,699,967 (GRCm39) missense probably damaging 0.99
R6408:Srgap3 UTSW 6 112,699,967 (GRCm39) missense probably damaging 0.99
R6797:Srgap3 UTSW 6 112,806,503 (GRCm39) missense probably damaging 1.00
R6852:Srgap3 UTSW 6 112,793,622 (GRCm39) missense probably damaging 1.00
R6965:Srgap3 UTSW 6 112,700,090 (GRCm39) missense probably damaging 1.00
R7055:Srgap3 UTSW 6 112,723,924 (GRCm39) missense probably damaging 0.97
R7067:Srgap3 UTSW 6 112,734,266 (GRCm39) intron probably benign
R7361:Srgap3 UTSW 6 112,723,882 (GRCm39) missense probably damaging 0.99
R7479:Srgap3 UTSW 6 112,712,794 (GRCm39) critical splice donor site probably null
R7606:Srgap3 UTSW 6 112,716,337 (GRCm39) missense probably benign 0.00
R7731:Srgap3 UTSW 6 112,743,858 (GRCm39) missense probably benign 0.36
R7787:Srgap3 UTSW 6 112,752,520 (GRCm39) missense probably benign 0.02
R7934:Srgap3 UTSW 6 112,708,450 (GRCm39) missense probably damaging 1.00
R8026:Srgap3 UTSW 6 112,716,325 (GRCm39) missense probably benign 0.00
R8040:Srgap3 UTSW 6 112,716,325 (GRCm39) missense probably benign 0.00
R8066:Srgap3 UTSW 6 112,748,339 (GRCm39) missense probably damaging 0.99
R8067:Srgap3 UTSW 6 112,716,325 (GRCm39) missense probably benign 0.00
R8090:Srgap3 UTSW 6 112,757,996 (GRCm39) nonsense probably null
R8151:Srgap3 UTSW 6 112,793,628 (GRCm39) missense probably damaging 1.00
R8248:Srgap3 UTSW 6 112,700,104 (GRCm39) missense probably damaging 1.00
R8365:Srgap3 UTSW 6 112,793,695 (GRCm39) missense probably damaging 1.00
R8369:Srgap3 UTSW 6 112,699,779 (GRCm39) missense probably benign
R8444:Srgap3 UTSW 6 112,752,509 (GRCm39) missense possibly damaging 0.56
R8509:Srgap3 UTSW 6 112,708,297 (GRCm39) nonsense probably null
R8772:Srgap3 UTSW 6 112,743,906 (GRCm39) missense probably damaging 1.00
R8827:Srgap3 UTSW 6 112,716,302 (GRCm39) missense probably damaging 1.00
R8881:Srgap3 UTSW 6 112,700,098 (GRCm39) missense probably benign
R9002:Srgap3 UTSW 6 112,757,854 (GRCm39) missense possibly damaging 0.76
R9041:Srgap3 UTSW 6 112,754,054 (GRCm39) missense probably damaging 0.99
R9198:Srgap3 UTSW 6 112,743,865 (GRCm39) missense probably damaging 1.00
R9404:Srgap3 UTSW 6 112,706,616 (GRCm39) missense probably benign 0.04
R9616:Srgap3 UTSW 6 112,748,524 (GRCm39) missense probably damaging 1.00
X0062:Srgap3 UTSW 6 112,772,747 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAAACCGAAGAGGCCTCTAG -3'
(R):5'- ATCATAGGTCCCCACTCCAG -3'

Sequencing Primer
(F):5'- AACCTTCTGGATGGTGCAAC -3'
(R):5'- ATAGGTCCCCACTCCAGCTCTC -3'
Posted On 2014-06-30