Incidental Mutation 'R8537:Sema5b'
ID 659305
Institutional Source Beutler Lab
Gene Symbol Sema5b
Ensembl Gene ENSMUSG00000052133
Gene Name sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B
Synonyms SemG, SemG, Semag
MMRRC Submission 067891-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8537 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 35361517-35485103 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35471979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 479 (A479V)
Ref Sequence ENSEMBL: ENSMUSP00000057494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050625] [ENSMUST00000120756]
AlphaFold Q60519
Predicted Effect possibly damaging
Transcript: ENSMUST00000050625
AA Change: A479V

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000057494
Gene: ENSMUSG00000052133
AA Change: A479V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Sema 68 479 1.68e-174 SMART
PSI 497 544 9.18e-12 SMART
TSP1 609 662 3.34e-15 SMART
TSP1 667 713 3.42e-12 SMART
TSP1 798 850 1.58e-16 SMART
TSP1 855 907 2.45e-13 SMART
TSP1 910 957 1.02e-1 SMART
transmembrane domain 977 999 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120756
AA Change: A479V

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112536
Gene: ENSMUSG00000052133
AA Change: A479V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Sema 68 479 1.68e-174 SMART
PSI 497 544 9.18e-12 SMART
TSP1 609 662 3.34e-15 SMART
TSP1 667 742 7.61e-10 SMART
TSP1 827 879 1.58e-16 SMART
TSP1 884 936 2.45e-13 SMART
TSP1 939 986 1.02e-1 SMART
transmembrane domain 1006 1028 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null mutation display defects in neurite arborization of multiple retinal cell types. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,684,491 (GRCm39) D1790V probably damaging Het
Aopep A T 13: 63,338,364 (GRCm39) E579V probably damaging Het
Avl9 T A 6: 56,705,644 (GRCm39) Y175* probably null Het
Bmp2 A T 2: 133,403,202 (GRCm39) D251V probably damaging Het
Camsap2 T A 1: 136,204,943 (GRCm39) K1191N probably damaging Het
Ccdc102a A C 8: 95,632,684 (GRCm39) F431C probably benign Het
Ccdc186 T C 19: 56,798,677 (GRCm39) I270M probably damaging Het
Copb2 A G 9: 98,469,672 (GRCm39) Q851R probably null Het
Cyp11b2 C T 15: 74,728,016 (GRCm39) R22K probably benign Het
Ddx50 A G 10: 62,478,628 (GRCm39) F186S probably damaging Het
Dhx38 T C 8: 110,280,012 (GRCm39) Y926C probably damaging Het
Dmrt2 T C 19: 25,651,300 (GRCm39) M162T possibly damaging Het
Dnah10 G T 5: 124,893,164 (GRCm39) G3309V probably damaging Het
Dnajb2 T C 1: 75,216,242 (GRCm39) F107S probably damaging Het
Dock8 T A 19: 25,107,870 (GRCm39) S867T probably benign Het
Eif2ak1 C A 5: 143,835,887 (GRCm39) T526K probably damaging Het
Gnas T C 2: 174,140,394 (GRCm39) S188P possibly damaging Het
Gpam T C 19: 55,084,671 (GRCm39) D36G probably benign Het
Gucy2e C A 11: 69,127,179 (GRCm39) R98L probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hnrnpu T C 1: 178,161,199 (GRCm39) probably benign Het
Icos A G 1: 61,033,101 (GRCm39) D100G probably damaging Het
Ifi203 A T 1: 173,756,472 (GRCm39) probably benign Het
Ift46 T A 9: 44,695,280 (GRCm39) L92Q probably damaging Het
Kcnip2 C T 19: 45,804,169 (GRCm39) probably null Het
Lgr5 T C 10: 115,288,307 (GRCm39) Y779C probably damaging Het
Ltk G T 2: 119,588,588 (GRCm39) P287Q probably benign Het
Mapk8ip3 A T 17: 25,120,652 (GRCm39) C852* probably null Het
Mmp27 A G 9: 7,579,776 (GRCm39) M443V probably benign Het
Muc6 T C 7: 141,234,184 (GRCm39) D769G probably benign Het
Myo7b T C 18: 32,110,142 (GRCm39) I1107V probably benign Het
Nebl T A 2: 17,355,520 (GRCm39) H211L probably benign Het
Oaz3 T A 3: 94,343,742 (GRCm39) K40N probably damaging Het
Or5as1 T A 2: 86,980,382 (GRCm39) T208S probably benign Het
Or7e169 T A 9: 19,757,848 (GRCm39) E22D probably damaging Het
Osbpl10 G T 9: 115,058,977 (GRCm39) A718S probably benign Het
Ppp3ca T A 3: 136,503,619 (GRCm39) I64K possibly damaging Het
Prlr T C 15: 10,314,266 (GRCm39) probably benign Het
Rab3ip A G 10: 116,746,059 (GRCm39) I424T probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Sec62 G T 3: 30,872,961 (GRCm39) R348L unknown Het
Shank3 T C 15: 89,416,418 (GRCm39) I222T probably damaging Het
Sp1 C T 15: 102,316,964 (GRCm39) T154I possibly damaging Het
Spata31e1 A G 13: 49,940,108 (GRCm39) V534A possibly damaging Het
Srek1 A G 13: 103,888,957 (GRCm39) probably benign Het
Tmem129 A G 5: 33,812,920 (GRCm39) S143P possibly damaging Het
Tmem202 A T 9: 59,426,929 (GRCm39) C194S probably benign Het
Tmprss15 A T 16: 78,884,403 (GRCm39) I93K probably damaging Het
Ttn A G 2: 76,606,653 (GRCm39) Y16340H probably damaging Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Other mutations in Sema5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Sema5b APN 16 35,471,685 (GRCm39) missense probably damaging 1.00
IGL01584:Sema5b APN 16 35,465,793 (GRCm39) missense probably damaging 1.00
IGL01859:Sema5b APN 16 35,467,479 (GRCm39) missense possibly damaging 0.94
IGL02195:Sema5b APN 16 35,480,849 (GRCm39) critical splice acceptor site probably null
IGL02346:Sema5b APN 16 35,470,125 (GRCm39) missense probably damaging 1.00
IGL02850:Sema5b APN 16 35,480,885 (GRCm39) missense probably benign 0.01
IGL03277:Sema5b APN 16 35,471,682 (GRCm39) missense probably damaging 0.96
R0101:Sema5b UTSW 16 35,483,472 (GRCm39) splice site probably benign
R0368:Sema5b UTSW 16 35,448,470 (GRCm39) missense probably damaging 1.00
R0426:Sema5b UTSW 16 35,466,725 (GRCm39) missense probably damaging 1.00
R0675:Sema5b UTSW 16 35,480,703 (GRCm39) missense probably benign 0.00
R0905:Sema5b UTSW 16 35,443,001 (GRCm39) missense probably benign 0.33
R1163:Sema5b UTSW 16 35,448,466 (GRCm39) missense probably benign 0.19
R1195:Sema5b UTSW 16 35,472,030 (GRCm39) missense probably null 0.94
R1195:Sema5b UTSW 16 35,472,030 (GRCm39) missense probably null 0.94
R1666:Sema5b UTSW 16 35,478,852 (GRCm39) missense probably benign 0.03
R1706:Sema5b UTSW 16 35,470,125 (GRCm39) missense probably damaging 0.98
R1733:Sema5b UTSW 16 35,466,737 (GRCm39) missense probably damaging 1.00
R1775:Sema5b UTSW 16 35,480,694 (GRCm39) missense probably benign
R2215:Sema5b UTSW 16 35,480,585 (GRCm39) missense probably damaging 1.00
R2844:Sema5b UTSW 16 35,480,301 (GRCm39) missense probably damaging 0.98
R3086:Sema5b UTSW 16 35,443,093 (GRCm39) missense probably benign
R3613:Sema5b UTSW 16 35,480,520 (GRCm39) missense probably benign
R4774:Sema5b UTSW 16 35,483,552 (GRCm39) missense probably damaging 1.00
R5743:Sema5b UTSW 16 35,478,846 (GRCm39) missense probably damaging 1.00
R5856:Sema5b UTSW 16 35,466,756 (GRCm39) nonsense probably null
R5993:Sema5b UTSW 16 35,466,572 (GRCm39) missense probably damaging 1.00
R6248:Sema5b UTSW 16 35,448,377 (GRCm39) splice site probably null
R6420:Sema5b UTSW 16 35,483,516 (GRCm39) missense probably benign 0.08
R6795:Sema5b UTSW 16 35,478,941 (GRCm39) nonsense probably null
R6825:Sema5b UTSW 16 35,448,377 (GRCm39) splice site probably null
R7066:Sema5b UTSW 16 35,471,682 (GRCm39) missense probably benign 0.26
R7244:Sema5b UTSW 16 35,480,915 (GRCm39) missense probably benign
R7446:Sema5b UTSW 16 35,467,573 (GRCm39) missense probably damaging 1.00
R7497:Sema5b UTSW 16 35,481,700 (GRCm39) missense probably damaging 1.00
R7516:Sema5b UTSW 16 35,471,540 (GRCm39) missense probably benign 0.05
R7878:Sema5b UTSW 16 35,481,996 (GRCm39) missense probably benign 0.00
R7922:Sema5b UTSW 16 35,478,626 (GRCm39) frame shift probably null
R8397:Sema5b UTSW 16 35,471,691 (GRCm39) missense possibly damaging 0.59
R8929:Sema5b UTSW 16 35,467,737 (GRCm39) intron probably benign
R9262:Sema5b UTSW 16 35,453,223 (GRCm39) missense possibly damaging 0.57
R9389:Sema5b UTSW 16 35,466,092 (GRCm39) missense probably damaging 1.00
R9579:Sema5b UTSW 16 35,467,582 (GRCm39) missense probably benign 0.01
R9623:Sema5b UTSW 16 35,443,121 (GRCm39) missense possibly damaging 0.74
Z1088:Sema5b UTSW 16 35,480,960 (GRCm39) missense probably damaging 0.99
Z1176:Sema5b UTSW 16 35,470,234 (GRCm39) missense probably benign 0.01
Z1176:Sema5b UTSW 16 35,466,643 (GRCm39) missense probably benign 0.05
Z1176:Sema5b UTSW 16 35,448,388 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TACTCTACATAGGCACGGGTG -3'
(R):5'- GGCTCTGAAACATGATTGGAGG -3'

Sequencing Primer
(F):5'- ATGGCTTCAAGGCTGCTTTC -3'
(R):5'- ATTGGAGGGATAGCCACCACC -3'
Posted On 2021-01-18